GENOME TEST
Genetické vyšetření na tisíce dědičných onemocnění.
Nejkomplexnější genetický zdravotní test: přečteme celou vaši DNA, nikoli jen seznam vybraných genů, a to pro tisíce onemocnění se známým genetickým podkladem.
- Zprávy o onemocněních
- 761
- Rizikové skóre
- 50
Jeden test. Všechna zde uvedená onemocnění.
Od 449 $Doprava zdarma · Výsledky za 6–8 týdnů
Objednejte si Genome TestZprávy o onemocněních
- CancerZobrazit 43 zpráv o onemocnění
- CardiovascularZobrazit 31 zpráv o onemocnění
- DermatologicalZobrazit 27 zpráv o onemocnění
- EndocrineZobrazit 24 zpráv o onemocnění
- GastrointestinalZobrazit 21 zpráv o onemocnění
- HematologicalZobrazit 33 zpráv o onemocnění
- ImmunologicalZobrazit 42 zpráv o onemocnění
- MetabolicZobrazit 99 zpráv o onemocnění
- MusculoskeletalZobrazit 121 zpráv o onemocnění
- NeurologicalZobrazit 183 zpráv o onemocnění
- NutritionZobrazit 6 zpráv o onemocnění
- OphthalmologicalZobrazit 51 zpráv o onemocnění
- OralZobrazit 9 zpráv o onemocnění
- OtherZobrazit 8 zpráv o onemocnění
- OtolaryngologicalZobrazit 11 zpráv o onemocnění
- PsychiatricZobrazit 4 zpráv o onemocnění
- RespiratoryZobrazit 10 zpráv o onemocnění
- Sexual HealthZobrazit 8 zpráv o onemocnění
- SleepZobrazit 1 zprávu o onemocnění
- ToxicologyZobrazit 4 zpráv o onemocnění
- UrologicalZobrazit 25 zpráv o onemocnění
Rizikové skóre
- Brain & nervous systemZobrazit 2 rizikových skóre
- CancerZobrazit 7 rizikových skóre
- Digestive healthZobrazit 3 rizikových skóre
- Heart & circulationZobrazit 9 rizikových skóre
- Immune & inflammatoryZobrazit 3 rizikových skóre
- Lifestyle & traitsZobrazit 6 rizikových skóre
- Longevity & ageingZobrazit 7 rizikových skóre
- Mental health & wellbeingZobrazit 8 rizikových skóre
- Metabolism & bodyZobrazit 5 rizikových skóre
Jeden test. Všechna zde uvedená onemocnění.
Od 449 $Doprava zdarma · Výsledky za 6–8 týdnů
Objednejte si Genome TestCancer
Diseases characterized by the uncontrolled growth and spread of abnormal cells; also known as oncological conditions.
Zprávy o onemocněních v této kategorii (43)
- BAP1 Tumour Predisposition SyndromeBAP11 condition→
- Birt-Hogg-Dubé SyndromeFLCN2 conditions→
- Bloom SyndromeBLM1 condition→
- Breast and Ovarian Cancer Genes Beyond BRCA1/2ATM, BARD1, BRIP1, CDH1, CHEK2, CTNNA1 +39 conditions→
- CYLD Cutaneous SyndromeCYLD1 condition→
- Colorectal Cancer & PolyposisAPC, AXIN2, MSH3, MUTYH, NTHL1, POLD1 +18 conditions→
- Cowden Syndrome (PTEN hamartoma tumour syndrome)AKT1, PTEN10 conditions→
- DICER1 Tumour PredispositionDICER11 condition→
- DNA Repair DiseaseAPTX, BRCA1, BRCA2, BRIP1, COA7, DCLRE1C +371 condition→
- FANCM-Related Genomic Instability DisorderFANCM1 condition→
- Hereditary Breast and Ovarian Cancer (BRCA1/2)BRCA1, BRCA23 conditions→
- Hereditary Diffuse Gastric CancerCDH1, CTNNA13 conditions→
- Hereditary Gastrointestinal Stromal TumourKIT, PDGFRA, SDHB, SDHC1 condition→
- Hereditary Leiomyomatosis and Renal Cell CancerFH1 condition→
- Hereditary Mixed Polyposis SyndromeBMPR1A, GREM12 conditions→
- Hereditary Pheochromocytoma and ParagangliomaEGLN1, MAX, RET, SDHA, SDHAF2, SDHB +44 conditions→
- Hereditary Prostate CancerHOXB131 condition→
- Hereditary RetinoblastomaRB11 condition→
- Hereditary Wilms TumourREST, WT11 condition→
- Inherited Predisposition to Acute Myeloid LeukaemiaANKRD26, CEBPA, ETV6, GATA2, RUNX1, TERC +11 condition→
- Inherited Predisposition to Myeloid Blood CancersDDX41, GATA2, SAMD9, SAMD9L5 conditions→
- Juvenile Polyposis SyndromeBMPR1A, SMAD42 conditions→
- Li-Fraumeni SyndromeTP531 condition→
- Lung CancerDICER1, EGFR1 condition→
- Lynch SyndromeEPCAM, MLH1, MSH2, MSH6, PMS22 conditions→
- Malignant Endocrine NeoplasmCDC73, CDKN1B, MEN1, RET, SDHA, SDHAF2 +23 conditions→
- MedulloblastomaELP1, GPR161, SUFU2 conditions→
- MelanomaCDK4, CDKN2A, MITF, POT13 conditions→
- Mosaic Variegated Aneuploidy SyndromeBUB1B, CEP57, SLF2, SMC5, TRIP131 condition→
- Myelodysplastic Syndrome (MDS)ERG, GATA2, SAMD91 condition→
- NTHL1 Tumour Predisposition SyndromeNTHL11 condition→
- Neuroblastoma Predisposition (ALK and PHOX2B)ALK, PHOX2B2 conditions→
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromePTCH1, SUFU1 condition→
- PALB2 related diseasesPALB23 conditions→
- PAX5-Related Leukaemia PredispositionPAX51 condition→
- Perlman SyndromeDIS3L21 condition→
- Peutz-Jeghers SyndromeSTK111 condition→
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionSMARCA4, SMARCB1, SMARCE12 conditions→
- Rothmund-Thomson SyndromeANAPC1, CRIPT, RECQL41 condition→
- Serrated Polyposis Syndrome (RNF43)RNF431 condition→
- Thyroid CancerAIRE, ALB, CASR, CDC73, DUOX2, DUOXA2 +2562 conditions→
- Uterine Fibroids2 conditions→
- Von Hippel-Lindau DiseaseVHL1 condition→
Cardiovascular
Conditions involving the heart, blood vessels (arteries, veins), and the body's circulatory system.
Zprávy o onemocněních v této kategorii (31)
- Aortic AneurysmACTA2, ARIH1, FBN1, FOXE3, LOX, MFAP5 +74 conditions→
- Arrhythmogenic CardiomyopathyCDH2, DES, DSC2, DSG2, DSP, JUP +54 conditions→
- Brugada SyndromeSCN5A1 condition→
- Cantú SyndromeABCC9, KCNJ81 condition→
- Cardiac-Urogenital SyndromeMYRF1 condition→
- Catecholaminergic Polymorphic Ventricular TachycardiaCALM1, CALM2, CALM3, CASQ2, RYR2, TECRL +12 conditions→
- Dilated CardiomyopathyABCC9, ACTC1, BAG3, BAG5, DES, DMD +441 condition→
- FLT4-Related Congenital Heart DiseaseFLT41 condition→
- Familial Atrial FibrillationGJA5, KCNJ2, KCNQ1, MYL41 condition→
- Hereditary Arterial CalcificationABCC6, ENPP1, NT5E2 conditions→
- Hereditary Hemorrhagic TelangiectasiaACVRL1, ENG, GDF2, SMAD48 conditions→
- Hereditary Vascular MalformationsEPHB4, GLMN, RASA1, TEK4 conditions→
- Heritable Pulmonary Arterial Hypertension (HPAH)ATP13A3, BMPR2, CAV1, EIF2AK4, KCNK3, SMAD93 conditions→
- Heterotaxy & Laterality DefectsACVR2B, CFAP53, CFC1, CIROP, DAW1, GDF1 +52 conditions→
- Hypertrophic CardiomyopathyACADVL, ACTC1, ALPK3, BRAF, CDKN1C, CSRP3 +561 condition→
- Inherited Congenital Heart DefectsACTC1, ELN, FLNA, GATA4, GATA6, MYH6 +711 conditions→
- Left Ventricular NoncompactionACTC1, LDB3, MIPEP, MYBPC3, MYH7, TNNT2 +12 conditions→
- Loeys-Dietz SyndromeSMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR23 conditions→
- Long QT SyndromeCACNA1C, CALM1, CALM2, CALM3, KCNE1, KCNH2 +41 condition→
- Monogenic Hypertension & Mineralocorticoid DisordersCACNA1D, CACNA1H, CUL3, CYP11B1, CYP11B2, HSD11B2 +97 conditions→
- Moyamoya DiseaseACTA2, GUCY1A1, RNF213, SAMHD11 condition→
- NR2F2-Related Congenital Anomalies SyndromeNR2F21 condition→
- Noonan SyndromeBRAF, CBL, ERF, HRAS, KRAS, LZTR1 +163 conditions→
- PLD1-Related Congenital Heart DiseasePLD11 condition→
- Primary Lymphoedema & Lymphatic MalformationsADAMTS3, ANGPT2, CCBE1, CELSR1, EPHB4, FAT4 +1017 conditions→
- Progressive Cardiac Conduction Disease & Sick Sinus SyndromeCACNA1D, DES, HCN4, LMNA, POPDC2, SCN5A +27 conditions→
- Restrictive CardiomyopathyTNNI3, TNNT25 conditions→
- Short Qt SyndromeKCNH2, KCNJ2, KCNQ1, SLC4A31 condition→
- Syndromic and Metabolic CardiomyopathiesACTN2, AGK, CAMK2D, NKX2-5, PRKAG2, SLC25A47 conditions→
- Tetralogy of FallotKDR, NKX2-5, ZFPM21 condition→
- ThrombophiliaF2, F5, F9, HRG, PROC, PROS1 +32 conditions→
Dermatological
Conditions affecting the skin, hair, nails, and their associated glands.
Zprávy o onemocněních v této kategorii (27)
- Cutis LaxaALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, EFEMP1 +101 condition→
- Darier and Hailey-Hailey DiseaseATP2A2, ATP2C13 conditions→
- Dyschromatosis Symmetrica HereditariaADAR1 condition→
- Dyskeratosis CongenitaACD, CDCA7, CTC1, DCLRE1B, DKC1, DNMT3B +172 conditions→
- Ectodermal DysplasiasCST6, EDA, EDAR, EDARADD, GJB6, HOXC13 +1216 conditions→
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaEVC, EVC2, IFT122, IFT43, IFT52, WDR19 +13 conditions→
- Epidermolysis BullosaCD151, COL17A1, COL7A1, DSP, DST, EXPH5 +138 conditions→
- Familial Hidradenitis SuppurativaNCSTN, PSENEN1 condition→
- Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma)TGFBR11 condition→
- Fibrodysplasia Ossificans ProgressivaACVR1, GNAS2 conditions→
- Focal Dermal Hypoplasia (Goltz Syndrome)PORCN1 condition→
- GAPO SyndromeANTXR11 condition→
- Griscelli SyndromeMLPH, MYO5A, RAB27A1 condition→
- H SyndromeSLC29A31 condition→
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixAPCDD1, C3orf52, CDH3, CDSN, DSG4, HR +107 conditions→
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaAAGAB, AP1B1, AQP5, CTSC, DSG1, DSP +291 condition→
- IFAP Syndrome (MBTPS2)MBTPS21 condition→
- Ichthyosis VulgarisFLG1 condition→
- Inherited IchthyosesABCA12, ALOX12B, ALOXE3, CDSN, CERS3, CLDN1 +189 conditions→
- Lipoid ProteinosisECM11 condition→
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyPLEC1 condition→
- PorokeratosisFDPS, MVD, MVK, PMVK1 condition→
- Prolidase DeficiencyPEPD1 condition→
- Pseudoxanthoma ElasticumABCC6, GGCX2 conditions→
- Restrictive Dermopathy (ZMPSTE24)ZMPSTE241 condition→
- Scalp-Ear-Nipple SyndromeKCTD11 condition→
- Tylosis with Oesophageal CancerRHBDF21 condition→
Endocrine
Disorders of the glands that produce hormones, which regulate metabolism, growth, mood, and development.
Zprávy o onemocněních v této kategorii (24)
- Autoimmune Polyendocrine Syndrome Type 1 (APECED)AIRE1 condition→
- Carney Complex & Hereditary Adrenal Cushing SyndromeARMC5, PDE11A, PDE8B, PRKAR1A3 conditions→
- Congenital Adrenal HyperplasiaCYP11A1, CYP11B1, CYP17A1, CYP21A2, HSD3B2, POR +13 conditions→
- Congenital HypothyroidismDUOX2, DUOXA2, FOXE1, IGSF1, IRS4, IYD +143 conditions→
- Familial Glucocorticoid DeficiencyAAAS, MC2R, MRAP, NDC1, NNT, NR0B1 +24 conditions→
- Familial Isolated Pituitary Adenoma (FIPA / X-LAG)AIP, GPR1012 conditions→
- Graves Disease5 conditions→
- Growth Hormone Insensitivity & IGF-1 Axis DisordersGHR, GHSR, IGF1, IGF1R, IGFALS, STAT5B2 conditions→
- HyperinsulinismABCC8, FOXA2, GCK, GLUD1, HADH, HK1 +56 conditions→
- HyperthyroidismALB, THRB, TSHR1 condition→
- Hypogonadotropic HypogonadismANOS1, ARHGAP35, CHD7, CPE, DCAF17, FEZF1 +452 conditions→
- Inherited Parathyroid & Calcium-Sensing DisordersAP2S1, CASR, CDC73, GATA3, GCM2, GNA11 +16 conditions→
- Maturity-Onset Diabetes Of The YoungABCC8, APPL1, CEL, GCK, HNF1A, HNF1B +61 condition→
- Monogenic Obesity (Leptin-Melanocortin Pathway)CEP19, LEP, LEPR, MC4R, PCSK1, POMC +11 condition→
- Monogenic Precocious PubertyDLK1, LHCGR, MKRN32 conditions→
- Neonatal Diabetes MellitusABCC8, BSCL2, EIF2B1, GATA4, GATA6, GCK +141 condition→
- Non-Acquired Combined Pituitary Hormone DeficiencyCDON, CNOT1, DISP1, FOXA2, GH1, GHRHR +202 conditions→
- PDX1-Related Pancreatic AgenesisPDX11 condition→
- Pendred SyndromeSLC26A42 conditions→
- Polycystic Ovary SyndromeFSHR2 conditions→
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersGNAS, PDE4D, PRKAR1A, STX163 conditions→
- Severe Inherited Insulin ResistanceAKT2, INSR4 conditions→
- Thyroid Hormone Resistance, Transport & Metabolism DefectsSECISBP2, SLC16A2, THRB4 conditions→
- Wolfram Syndrome & WFS1 SpectrumCISD2, WFS12 conditions→
Gastrointestinal
Conditions related to the digestive system, including the oesophagus, stomach, intestines, liver, and pancreas.
Zprávy o onemocněních v této kategorii (21)
- ACOX2 Deficiency (Bile Acid Synthesis Defect 6)ACOX21 condition→
- ARC Syndrome 1 (VPS33B)VPS33B1 condition→
- ARC Syndrome 2 (VIPAS39)VIPAS391 condition→
- Alagille SyndromeJAG1, NOTCH21 condition→
- CHAPLE Disease (CD55 Deficiency)CD551 condition→
- Congenital Bile Acid Synthesis Defect 1 (HSD3B7)HSD3B71 condition→
- Congenital Bile Acid Synthesis Defect 2AKR1D11 condition→
- Congenital Diarrhoeas & EnteropathiesDGAT1, EPCAM, GUCY2C, MYO5B, NEUROG3, PLVAP +73 conditions→
- Congenital Disaccharidase DeficienciesLCT, SI2 conditions→
- Congenital Intestinal Atresia & Short BowelCLMP, TTC7A2 conditions→
- Crohn's Disease1 condition→
- Familial Intrahepatic CholestasisABCB11, ABCB4, ATP8B1, KIF12, MYO5B, NR1H4 +41 condition→
- Hereditary Visceral Myopathy, CIPO & MMIHSACTG2, ERBB3, FLNA, MYH11, MYL9, MYLK4 conditions→
- Hirschsprung Disease & Related Enteric NeurocristopathiesKIFBP, PHOX2B, RET4 conditions→
- Inflammatory Bowel Diseases (IBD)ADAM17, EGFR, IL10, IL10RA, IL10RB, TGFB13 conditions→
- Low phospholipid-associated cholelithiasisABCB45 conditions→
- PancreatitisCPA1, CTRC, PRSS1, SPINK1, TRPV61 condition→
- Polycystic Liver Disease (1 and 2)ALG8, LRP5, PRKCSH, SEC634 conditions→
- Townes-Brocks SyndromeSALL11 condition→
- Ulcer Disease18 conditions→
- Ulcerative Colitis1 condition→
Hematological
Conditions affecting the blood, blood-forming organs (like bone marrow), and blood components such as cells and plasma.
Zprávy o onemocněních v této kategorii (33)
- Congenital AfibrinogenemiaFGA, FGB, FGG1 condition→
- Congenital Dyserythropoietic AnaemiasCDAN1, CDIN1, KLF1, SEC23B1 condition→
- Congenital Factor XII DeficiencyF121 condition→
- Congenital Thrombotic Thrombocytopenic PurpuraADAMTS131 condition→
- Diamond-Blackfan AnemiaGATA1, HEATR3, RPL11, RPL15, RPL26, RPL35A +81 condition→
- Fanconi AnemiaBRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB +121 condition→
- G6PD DeficiencyG6PD1 condition→
- HaemophiliaF11, F8, F91 condition→
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsCYB5A, CYB5R3, HBA1, HBA2, HBB3 conditions→
- Hereditary Sideroblastic AnaemiasABCB7, ALAS2, GLRX5, HSPA9, PUS1, SLC25A38 +21 condition→
- Hereditary SpherocytosisANK1, EPB42, SLC4A1, SLC4A2, SPTA1, SPTB1 condition→
- Hereditary Thrombocythaemia (JAK2)JAK21 condition→
- Hereditary Thrombocythaemia (THPO)THPO1 condition→
- Hereditary Von Willebrand DiseaseGP1BA, VWF1 condition→
- High-Molecular-Weight Kininogen DeficiencyKNG11 condition→
- ITGA2B/ITGB3-Related MacrothrombocytopeniaITGA2B, ITGB31 condition→
- ITGB3-Related MacrothrombocytopeniaITGB31 condition→
- Inherited Fibrinolytic DisordersPLAU, PLG, SERPINE1, SERPINF24 conditions→
- Inherited Iron Metabolism DisordersCP, SLC11A2, TF, TMPRSS64 conditions→
- Inherited Platelet Function DisordersGP1BA, GP1BB, GP6, GP9, ITGA2B, ITGB3 +36 conditions→
- Inherited ThrombocytopeniasACTB, ACTN1, ADAMTS13, ANKRD26, ARPC1B, CDC42 +282 conditions→
- MPL-Related Hereditary ThrombocythaemiaMPL1 condition→
- PolycythemiaEGLN1, EPAS1, EPO, EPOR, HBA1, HBA2 +28 conditions→
- Prekallikrein DeficiencyKLKB11 condition→
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersAK1, GCLC, GPI, GSR, HK1, NT5C3A +28 conditions→
- Rare Inherited Bone Marrow Failure SyndromesADH5, DNAJC21, ERCC6L2, MECOM, MYSM1, SRP722 conditions→
- Rare Inherited Coagulation Factor DeficienciesF10, F13A1, F13B, F2, F5, F7 +45 conditions→
- Rare Inherited Megaloblastic AnaemiasDHFR, UMPS2 conditions→
- Red Blood Cell Membrane DisordersEPB41, KCNN4, PIEZO1, RHAG, RHCE, SLC4A1 +24 conditions→
- Severe Congenital NeutropeniaCLPB, CSF3R, CXCR2, CXCR4, ELANE, G6PC3 +63 conditions→
- Shwachman-Diamond SyndromeEFL1, SBDS1 condition→
- Sickle Cell DiseaseHBB5 conditions→
- ThalassaemiaHBA1, HBA2, HBB, HBG1, HBG22 conditions→
Immunological
Disorders of the immune system, including allergies, autoimmune diseases, and immunodeficiencies.
Zprávy o onemocněních v této kategorii (42)
- Activated PI3K-Delta Syndrome (APDS)PIK3CD, PIK3R11 condition→
- Agammaglobulinaemia (XLA and Autosomal Forms)BLNK, BTK, CD79A, CD79B, IGHM, IGLL1 +44 conditions→
- Ataxia-TelangiectasiaATM1 condition→
- Autoimmune DiseaseAIRE, ATP2C1, C1QA, CASP10, CASP8, CBLB +157 conditions→
- Autoimmune Lymphoproliferative Syndrome (ALPS)CASP10, CASP8, CTLA4, FAS, FASLG, KRAS +11 condition→
- Chediak-Higashi syndromeLYST1 condition→
- Chronic Granulomatous DiseaseCYBA, CYBB, CYBC1, NCF1, NCF2, NCF49 conditions→
- Chronic Mucocutaneous CandidiasisCARD9, IL17RA, IL17RC, STAT1, TRAF3IP22 conditions→
- Common Variable Immunodeficiency (Monogenic CVID)CD19, CR2, ICOS, IKZF1, IRF2BP2, LRBA +41 condition→
- Deficiency of Adenosine Deaminase 2 (DADA2)ADA21 condition→
- EBV-Driven Lymphoproliferation and CARD11 Immune DysregulationCARD11, CD27, IKZF23 conditions→
- Familial Hemophagocytic LymphohistiocytosisPRF1, STX11, STXBP2, UNC13D4 conditions→
- Familial Isolated Congenital AspleniaRPSA1 condition→
- Familial Mediterranean FeverMEFV1 condition→
- Hepatic Veno-Occlusive Disease with Immunodeficiency (VODI)SP1101 condition→
- Hereditary AngioedemaF12, PLG, SERPING12 conditions→
- Hereditary Periodic Fever SyndromesMVK, NLRC4, NLRP12, NLRP3, PLCG2, TNFRSF1A3 conditions→
- Hyper-IgE SyndromeDOCK8, IL6R, IL6ST, SPINK5, STAT3, STAT6 +11 condition→
- Hyper-IgM SyndromesAICDA, CD40, CD40LG, UNG1 condition→
- IPEX Syndrome and Other TregopathiesBACH2, CTLA4, DEF6, FOXP3, IL2RA, IL2RB +17 conditions→
- ITCH DeficiencyITCH1 condition→
- Immuno-Osseous DysplasiasRMRP, RNU4ATAC, SMARCAL12 conditions→
- Inherited Complement and Properdin DeficienciesC1QA, C1QB, C1QC, C1S, C2, C3 +116 conditions→
- JAK1-Related Autoinflammation, Immune Dysregulation and EosinophiliaJAK11 condition→
- Leukocyte Adhesion DeficiencyFERMT3, ITGB2, SLC35C11 condition→
- MTHFD1 DeficiencyMTHFD11 condition→
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)IFNGR1, IFNGR2, IL12B, IL12RB1, IL23R, IRF8 +45 conditions→
- Other Inborn Errors of ImmunityADA, ADAR, AICDA, AK2, AP3B1, ARPC1B +2092 conditions→
- Otofaciocervical Syndrome Type 2 (PAX1)PAX11 condition→
- PIK3R1-Related DisordersPIK3R12 conditions→
- Purine Nucleoside Phosphorylase DeficiencyPNP1 condition→
- Rare Monogenic Autoinflammatory DiseasesACP5, ADA2, ADAR, COPA, DOCK11, ELF4 +2813 conditions→
- SH2B3-Related Immune DysregulationSH2B31 condition→
- STAT1 and STAT3 Gain-of-Function DiseaseSTAT1, STAT32 conditions→
- Severe Combined ImmunodeficiencyADA, AK2, BCL11B, CARD11, CARMIL2, CD247 +262 conditions→
- Sjogren Syndrome1 condition→
- Systemic Lupus ErythematosusC1QA, DNASE1L3, PRKCD, SAT1, TREX1, UNC93B11 condition→
- Type I InterferonopathiesACP5, COPA, IFIH1, POLA1, POMP, PSMB10 +610 conditions→
- WHIM SyndromeCXCR2, CXCR41 condition→
- Wiskott-Aldrich Syndrome SpectrumWAS, WIPF13 conditions→
- X-Linked Lymphoproliferative Disease and XMENMAGT1, SH2D1A, XIAP2 conditions→
- X-linked Autoinflammatory DiseaseIKBKG1 condition→
Metabolic
Conditions impacting the body's chemical processes for converting food into energy, building tissues, and eliminating waste.
Zprávy o onemocněních v této kategorii (99)
- 2-Aminoadipic 2-Oxoadipic AciduriaDHTKD11 condition→
- 2-Methylbutyryl-CoA Dehydrogenase DeficiencyACADSB1 condition→
- 3-Methylglutaconic Aciduria Type 1AUH1 condition→
- 3-Methylglutaconic Aciduria Type 8 (HTRA2)HTRA21 condition→
- 3-Methylglutaconic Aciduria Type 9 (TIMM50)TIMM501 condition→
- ACBD5 DeficiencyACBD51 condition→
- Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Types A and B)SMPD13 conditions→
- AlkaptonuriaHGD1 condition→
- Alpha-Mannosidosis and Other GlycoproteinosesAGA, CTSA, FUCA1, MAN2B1, MANBA, NAGA +17 conditions→
- Aminoacylase 1 DeficiencyACY11 condition→
- BCAT2 Deficiency (Hypervalinaemia and Hyperleucine-Isoleucinaemia)BCAT21 condition→
- BCKDK DeficiencyBCKDK1 condition→
- BH4 Deficiency & Monoamine Neurotransmitter DisordersDBH, DDC, DNAJC12, GCH1, MAOA, PCBD1 +54 conditions→
- Beta-ureidopropionase deficiencyUPB11 condition→
- Biotinidase & Holocarboxylase DeficiencyBTD, HLCS1 condition→
- Cerebral Creatine Deficiency SyndromesGAMT, GATM, SLC6A81 condition→
- CitrullinemiaASS1, SLC25A131 condition→
- Classic Organic AciduriasACAT1, GCDH, HMGCL, IVD, MCCC1, MCCC2 +16 conditions→
- Congenital AnalbuminaemiaALB1 condition→
- Congenital Disorders of GlycosylationA4GALT, ALG1, ALG11, ALG12, ALG13, ALG14 +9314 conditions→
- CystathioninuriaCTH1 condition→
- CystinosisCTNS1 condition→
- DCMA Syndrome (3-Methylglutaconic Aciduria Type 5)DNAJC191 condition→
- Danon DiseaseLAMP21 condition→
- DesmosterolosisDHCR241 condition→
- Diabetes MellitusABCC8, AKT2, APPL1, BSCL2, CEL, EIF2B1 +251 condition→
- Disorder of Copper MetabolismAP1S1, ATP7A, ATP7B1 condition→
- Disorders of Glycine & Serine MetabolismAMT, GCSH, GLDC, PHGDH, PSAT1, PSPH +22 conditions→
- ECHS1 DeficiencyECHS11 condition→
- FLAD1-Related Lipid Storage MyopathyFLAD11 condition→
- Fabry DiseaseGLA1 condition→
- Familial HypercholesterolemiaAPOB, LDLR, LDLRAP1, PCSK91 condition→
- Fatty Acid Oxidation & Carnitine Cycle DisordersACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT2 +104 conditions→
- GM1 Gangliosidosis and Morquio B SyndromeGLB12 conditions→
- GPI Anchor Biosynthesis DefectsGPAA1, PGAP2, PGAP3, PIGA, PIGB, PIGC +146 conditions→
- GalactosemiaGALE, GALK1, GALM, GALT1 condition→
- Gaucher DiseaseGBA11 condition→
- Gilbert SyndromeABCC2, UGT1A13 conditions→
- Glutaminase DeficiencyGLS1 condition→
- Glutathione Synthetase DeficiencyGSS2 conditions→
- Glycerol Kinase DeficiencyGK1 condition→
- Glycogen Storage DiseaseAGL, ENO3, G6PC1, GBE1, GYS1, GYS2 +913 conditions→
- Glycogen Storage Disease IXdPHKA11 condition→
- HIBCH DeficiencyHIBCH1 condition→
- HSD10 Mitochondrial DiseaseHSD17B101 condition→
- Hartnup DiseaseSLC6A191 condition→
- HemochromatosisCYBRD1, HAMP, HFE, HJV, SLC40A1, TFR21 condition→
- Hepatic Porphyria DisordersALAD, ALAS2, CLPX, CPOX, FECH, HMBS +21 condition→
- Hereditary AmyloidosisAPOA1, APOA4, APP, B2M, CST3, FGA +61 condition→
- Hereditary Fructose Intolerance & Gluconeogenesis DefectsALDOB, FBP1, PCK13 conditions→
- Hereditary HypolipoproteinemiasABCA1, ANGPTL3, APOA1, APOB, LCAT, MTTP +12 conditions→
- Hermansky-Pudlak SyndromeAP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1 +51 condition→
- Homocystinuria & Cobalamin DisordersABCD4, AHCY, AMN, CBLIF, CBS, CD320 +145 conditions→
- Hypercalcemia InfantileCYP24A1, SLC34A11 condition→
- HyperlipidemiaABCG5, ABCG8, APOA5, APOB, APOC2, APOE +72 conditions→
- HyperlysinaemiaAASS1 condition→
- Hyperphosphataemic Familial Tumoral Calcinosis (GALNT3)GALNT31 condition→
- Hyperprolinaemia Type 1PRODH1 condition→
- Hyperprolinaemia Type 2ALDH4A11 condition→
- HypertriglyceridemiaAPOA5, CREB3L31 condition→
- HypophosphatasiaALPL1 condition→
- Isobutyryl-CoA Dehydrogenase DeficiencyACAD81 condition→
- LipodystrophyAGPAT2, AKT2, BSCL2, CAV1, CAVIN1, LIPE +69 conditions→
- Lysosomal Acid Lipase Deficiency (Wolman Disease and CESD)LIPA1 condition→
- Lysosomal Storage DiseaseABHD5, AGA, AP5Z1, ARSA, ARSB, ARSK +531 condition→
- MDPL SyndromePOLD11 condition→
- MEND SyndromeEBP1 condition→
- Maple Syrup Urine DiseaseBCKDHA, BCKDHB, DBT, DLD1 condition→
- McArdle's diseasePYGM1 condition→
- Methylmalonic & Propionic AcidemiaABCD4, ACSF3, CD320, HCFC1, LMBRD1, MCEE +82 conditions→
- Mucolipidoses (ML II, ML III and ML IV)GNPTAB, GNPTG, MCOLN13 conditions→
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)IDUA1 condition→
- Mucopolysaccharidosis Type II (Hunter Syndrome)IDS1 condition→
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)GNS, HGSNAT, NAGLU, SGSH1 condition→
- Mucopolysaccharidosis Type IVA (Morquio A Syndrome)GALNS1 condition→
- Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)ARSB1 condition→
- Mucopolysaccharidosis Type VII (Sly Syndrome)GUSB1 condition→
- Mucopolysaccharidosis-Plus SyndromeVPS33A1 condition→
- Myalgic Encephalomyelitis / Chronic Fatigue Syndrome1 condition→
- NGLY1 DeficiencyNGLY11 condition→
- Niemann-Pick Disease Type CNPC1, NPC21 condition→
- P5CS Deficiency (ALDH18A1-Related)ALDH18A11 condition→
- Peroxisomal Enzyme Disorders & Refsum DiseaseACOX1, AGPS, AMACR, GNPAT, HSD17B4, PHYH6 conditions→
- Phenylketonuria (PKU)PAH1 condition→
- Pompe DiseaseGAA1 condition→
- PorphyriaALAD, ALAS2, CLPX, CPOX, FECH, HMBS +31 condition→
- Primary HyperoxaluriaAGXT, GRHPR, HOGA12 conditions→
- Primary Mitochondrial DiseaseAARS2, ACAD9, AFG3L2, AGK, AIFM1, ATP5F1A +1319 conditions→
- Purine & Pyrimidine Metabolism DisordersADSL, APRT, DPYD, DPYS, HPRT1, MOCOS +27 conditions→
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyDLAT, DLD, LIAS, MPC1, PC, PDHA1 +33 conditions→
- Salla Disease and Free Sialic Acid Storage DiseaseSLC17A53 conditions→
- Sandhoff Disease and GM2 Activator DeficiencyGM2A, HEXB2 conditions→
- Succinic Semialdehyde Dehydrogenase DeficiencyALDH5A11 condition→
- Tay-Sachs DiseaseHEXA1 condition→
- TrimethylaminuriaFMO31 condition→
- TyrosinemiaFAH, HPD, TAT2 conditions→
- Urea Cycle DisorderARG1, ASL, ASS1, CA5A, CPS1, GLUD1 +62 conditions→
- Very Long Chain Acyl-Coa Dehydrogenase DeficiencyACADVL1 condition→
- Wilson DiseaseATP7B1 condition→
Musculoskeletal
Disorders involving the bones, joints, ligaments, tendons, and muscles, affecting movement and the body's structure.
Zprávy o onemocněních v této kategorii (121)
- 3MC Syndrome 1 (MASP1)MASP11 condition→
- ACAN-Related Short StatureACAN1 condition→
- ACCES Syndrome (UBA2)UBA21 condition→
- Aarskog-Scott SyndromeFGD11 condition→
- Achondrogenesis panelCOL2A1, GDF5, SLC26A2, TRIP111 condition→
- Acromelic Frontonasal DysostosisZSWIM61 condition→
- Adams-Oliver SyndromeARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ2 conditions→
- Asphyxiating Thoracic Dystrophy 2 (IFT80)IFT801 condition→
- Auriculocondylar Syndrome 2 (PLCB4)PLCB41 condition→
- Bailey-Bloch Congenital MyopathySTAC31 condition→
- Bent Bone Dysplasia Syndrome (FGFR2)FGFR21 condition→
- CHRNG-Related Multiple Pterygium SyndromeCHRNG1 condition→
- Caffey DiseaseCOL1A11 condition→
- Campomelic DysplasiaSOX91 condition→
- Carey-Fineman-Ziter SyndromeMYMK, MYMX1 condition→
- Catel-Manzke SyndromeTGDS1 condition→
- Cenani-Lenz Syndactyly SyndromeLRP41 condition→
- CherubismSH3BP21 condition→
- Cleidocranial DysplasiaCBFB, RUNX22 conditions→
- Congenital Muscular DystrophiesB3GALNT2, B4GAT1, CHKB, COL12A1, COL6A1, COL6A2 +233 conditions→
- Congenital MyopathiesACTA1, BIN1, CFL2, DNM2, KBTBD13, KLHL40 +147 conditions→
- Cornelia de Lange SyndromeBRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC31 condition→
- Craniofrontonasal SyndromeEFNB11 condition→
- Curry-Jones Syndrome (Mosaic SMO Syndrome)SMO1 condition→
- Desbuquois Dysplasia 1CANT11 condition→
- Distal MyopathiesADSS1, ANO5, CRYAB, DNAJB4, DYSF, FLNC +136 conditions→
- Dyssegmental Dysplasia, Silverman-Handmaker TypeHSPG21 condition→
- Dystrophinopathies (Duchenne and Becker Muscular Dystrophy)DMD2 conditions→
- Ehlers-Danlos SyndromeADAMTS2, AEBP1, B3GALT6, B4GALT7, C1R, C1S +153 conditions→
- Elsahy-Waters SyndromeCDH111 condition→
- Enlarged Parietal Foramina (MSX2)ALX4, MSX21 condition→
- Epiphyseal and Spondyloepiphyseal DysplasiasCOL2A1, COL9A1, COL9A2, COL9A3, COMP, FN1 +312 conditions→
- FAM111A-Related Skeletal DysplasiaFAM111A1 condition→
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)FGFR31 condition→
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)FLNB, GZF11 condition→
- Facioscapulohumeral Muscular Dystrophy (FSHD)1 condition→
- Familial Paget Disease of BoneSQSTM1, TNFRSF11A, TNFRSF11B, ZNF6874 conditions→
- Feingold Syndrome Type 1MYCN1 condition→
- Floating-Harbor SyndromeSRCAP1 condition→
- Fontaine Progeroid SyndromeSLC25A24, SLC25A41 condition→
- Frank-Ter Haar SyndromeSH3PXD2B1 condition→
- Frontonasal Dysplasia with Alopecia and Genital Anomaly (ALX4)ALX41 condition→
- FrontorhinyALX31 condition→
- Ghosal Haematodiaphyseal DysplasiaTBXAS11 condition→
- Greig Cephalopolysyndactyly SyndromeGLI31 condition→
- HAAO-Related Congenital NAD DeficiencyHAAO1 condition→
- Hajdu-Cheney SyndromeNOTCH21 condition→
- Hand-Foot-Genital SyndromeHOXA131 condition→
- Hereditary FibromatosesANTXR2, PDGFRB2 conditions→
- Hereditary Multiple OsteochondromasEXT1, EXT21 condition→
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)CYP27B1, CYP2R1, DMP1, ENPP1, FGF23, PHEX +22 conditions→
- INTU-Related Skeletal CiliopathyINTU1 condition→
- Inherited ArthropathiesANKH, PRG42 conditions→
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)DYNC2H11 condition→
- KYNU-Related Congenital NAD DeficiencyKYNU1 condition→
- Kabuki SyndromeKDM6A, KMT2D1 condition→
- Keutel SyndromeMGP1 condition→
- Klippel-Feil Anomaly with Myopathy (MYO18B)MYO18B1 condition→
- LPIN1-Related Recurrent RhabdomyolysisLPIN11 condition→
- Lethal Congenital Contracture Syndrome 11 (GLDN)GLDN1 condition→
- Limb-Girdle Muscular DystrophyANO5, CAPN3, CAV3, COL6A1, COL6A2, COL6A3 +283 conditions→
- MEGF10-Related MyopathyMEGF101 condition→
- MTX2-Related Mandibuloacral DysplasiaMTX21 condition→
- MYH2-Related MyopathyMYH21 condition→
- Mandibulofacial Dysostosis with MicrocephalyEFTUD21 condition→
- Marfan Like SyndromesBGN, FBN1, FBN2, SKI, SMAD2, SMAD3 +46 conditions→
- Marshall-Smith SyndromeNFIX1 condition→
- Meier-Gorlin Syndrome 3 (ORC6)ORC61 condition→
- Meier-Gorlin Syndrome 4CDT11 condition→
- Meier-Gorlin Syndrome 7 (CDC45)CDC451 condition→
- Microcephalic Osteodysplastic Primordial Dwarfism Type IIPCNT1 condition→
- Miller Syndrome (Postaxial Acrofacial Dysostosis)DHODH1 condition→
- Monogenic Early-Onset OsteoporosisCOPB2, PLS3, WNT14 conditions→
- Mulibrey NanismTRIM371 condition→
- Multiple Synostoses Syndrome (FGF9)FGF9, GDF5, GDF6, NOG1 condition→
- Myofibrillar MyopathiesBAG3, CRYAB, DES, FLNC, HSPB8, KY +71 condition→
- NADSYN1-Related Congenital NAD Deficiency (VCRL Syndrome 3)NADSYN11 condition→
- NOG-Related Symphalangism Spectrum DisorderNOG1 condition→
- Nail-Patella SyndromeLMX1B1 condition→
- OpsismodysplasiaINPPL11 condition→
- Osteoarthritis1 condition→
- Osteogenesis ImperfectaANO5, ATP6V0A2, BMP1, COL1A1, COL1A2, CREB3L1 +282 conditions→
- OsteopetrosisAMER1, CA2, CLCN7, CTSK, FERMT3, LRP5 +81 condition→
- Otospondylomegaepiphyseal Dysplasia (OSMED)COL11A2, COL2A11 condition→
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)DNMT3A, EZH2, NFIX, NSD14 conditions→
- Polyglucosan Body Myopathy 1 (RBCK1)RBCK11 condition→
- Polyglucosan Body Myopathy 2 (GYG1)GYG11 condition→
- Progressive Pseudorheumatoid DysplasiaCCN61 condition→
- RNU4ATAC Spectrum DisorderRNU4ATAC1 condition→
- Raine SyndromeFAM20C1 condition→
- Rheumatoid Arthritis1 condition→
- Roberts SyndromeESCO21 condition→
- SCN4A-Related Congenital MyopathySCN4A1 condition→
- SF3B4-Related Acrofacial Dysostosis (Nager Syndrome)SF3B41 condition→
- SHOX Deficiency (Leri-Weill and Langer Dysplasia)SHOX2 conditions→
- SLC10A7-Related Skeletal Dysplasia With Amelogenesis ImperfectaSLC10A71 condition→
- SMAD6-Related DisorderSMAD61 condition→
- Saul-Wilson SyndromeCOG41 condition→
- Schmid Metaphyseal ChondrodysplasiaCOL10A11 condition→
- Schwartz-Jampel Syndrome Type 1HSPG21 condition→
- Sclerosing Bone Dysplasias (High Bone Mass)LRP5, MTAP, SFRP4, SOST, TGFB15 conditions→
- Short-Rib Thoracic Dysplasia 11 (DYNC2I2)DYNC2I21 condition→
- Short-Rib Thoracic Dysplasia 7 (WDR35)WDR351 condition→
- Short-Rib Thoracic Dysplasia 8 (DYNC2I1)DYNC2I11 condition→
- Spondylo-Meta-Epiphyseal Dysplasia, Short Limb-Abnormal Calcification TypeDDR21 condition→
- Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 3EXOC6B1 condition→
- Spondyloepimetaphyseal Dysplasia, Genevieve TypeNANS1 condition→
- Spondyloepiphyseal Dysplasia With Congenital Joint DislocationsCHST31 condition→
- Spondyloepiphyseal Dysplasia, Kondo-Fu TypeMBTPS11 condition→
- Spondylometaphyseal Dysplasia With Cone-Rod DystrophyPCYT1A1 condition→
- Stüve-Wiedemann SyndromeLIFR1 condition→
- Syndromic CraniosynostosisCYP26B1, ERF, FGFR1, FGFR2, FGFR3, IFT122 +171 condition→
- TARP SyndromeRBM101 condition→
- TOR1AIP1-Related Multisystem DisorderTOR1AIP11 condition→
- TOR1AIP1-Related MyopathyTOR1AIP11 condition→
- TRIP11-Related Skeletal DysplasiaMIA3, TRIP111 condition→
- TRPV4-Related Skeletal DysplasiasTRPV41 condition→
- Tubular Aggregate MyopathyORAI1, STIM11 condition→
- Ulnar-Mammary SyndromeTBX31 condition→
- X-Linked Chondrodysplasia Punctata 1ARSL1 condition→
- ZIC1-Related CraniosynostosisZIC11 condition→
Neurological
Conditions affecting the brain, spinal cord, and the network of nerves that control the body.
Zprávy o onemocněních v této kategorii (183)
- ADCY5-Related DyskinesiaADCY51 condition→
- ARFGEF1-Related Neurodevelopmental DisorderARFGEF11 condition→
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaATP1A21 condition→
- Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)CSF1R, LMNB1, TREM2, TYROBP3 conditions→
- Aicardi-Goutieres SyndromeADAR, IFIH1, RNASEH2A, RNASEH2B, RNASEH2C, RNU7-1 +28 conditions→
- Alacrima, Achalasia and Intellectual Disability Syndrome (GMPPA)GMPPA1 condition→
- Alexander DiseaseGFAP1 condition→
- Alkuraya-Kucinskas SyndromeBLTP11 condition→
- Alzahrani-Kuwahara SyndromeSMG81 condition→
- Alzheimer's diseaseAPOE, APP, PSEN1, PSEN2, TREM21 condition→
- Amyotrophic Lateral Sclerosis (ALS)ALS2, ANG, ANXA11, C9orf72, CCNF, CHCHD10 +231 condition→
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)NEK11 condition→
- Angelman SyndromeUBE3A1 condition→
- Asparagine Synthetase DeficiencyASNS1 condition→
- Au-Kline SyndromeHNRNPK1 condition→
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)AFG3L2, ATN1, ATP1A3, ATXN1, ATXN10, ATXN2 +301 condition→
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)AHI1, ANO10, ATCAY, ATG7, ATP8A2, CA8 +511 condition→
- Autosomal Recessive Primary MicrocephalyANKLE2, ASPM, CDK5RAP2, CEP135, CEP152, CIT +114 conditions→
- BRAT1-Related Neurodevelopmental Disorder with Cerebellar AtrophyBRAT11 condition→
- Basal Ganglia CalcificationJAM2, MYORG, NAA60, PDGFB, PDGFRB, SLC20A2 +14 conditions→
- Basilicata-Akhtar SyndromeMSL31 condition→
- Beaulieu-Boycott-Innes Syndrome (THOC6)THOC61 condition→
- Beck-Fahrner SyndromeTET31 condition→
- Brain Abnormalities, Neurodegeneration and Dysosteosclerosis (BANDDOS)CSF1R1 condition→
- Bryant-Li-Bhoj Neurodevelopmental Syndrome (H3-3A)H3-3A1 condition→
- CDH2-Related ACOGSCDH21 condition→
- CEBALID Syndrome (MN1)MN11 condition→
- CLCN7-Related Hypopigmentation, Organomegaly and Delayed Myelination (HOD)CLCN71 condition→
- COL4A1-Related DisorderCOL4A11 condition→
- CTNNB1 SyndromeCTNNB11 condition→
- CYP7B1-Related Spastic Paraplegia and Liver DiseaseCYP7B11 condition→
- Canavan DiseaseASPA1 condition→
- Cerebral Amyloid AngiopathyAPP, CST3, ITM2B1 condition→
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyHTRA1, NOTCH31 condition→
- Cerebral Cavernous MalformationCCM2, KRIT1, MAP3K3, PDCD105 conditions→
- Cerebrotendinous XanthomatosisCYP27A11 condition→
- Charcot-Marie-Tooth DiseaseAARS1, AIFM1, ATP1A1, ATP7A, BSCL2, CADM3 +722 conditions→
- Christianson SyndromeSLC9A61 condition→
- Chung-Jansen Syndrome (PHIP)PHIP1 condition→
- Coffin-Siris SyndromeARID1A, ARID1B, ARID2, BICRA, DPF2, SMARCA4 +61 condition→
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaADGRG1, APC2, CAMSAP1, CTNNA2, DYNC1H1, KIF26A +92 conditions→
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)MYH10, RERE, SOX11, TRRAP2 conditions→
- Complex Neurodevelopmental Disorder With Motor FeaturesADD3, CACNA1A, CACNA1B, ELP2, EMC1, KMT2B +31 condition→
- Congenital Myasthenic SyndromeAGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1 +216 conditions→
- DCC-Related Mirror Movements and Agenesis of the Corpus CallosumDCC1 condition→
- DHX30-Related Neurodevelopmental DisorderDHX301 condition→
- DIAPH1-Related Microcephaly, Seizures and Cortical BlindnessDIAPH11 condition→
- DLL1-Related Neurodevelopmental DisorderDLL11 condition→
- DNMT1-Related Ataxia, Deafness and Narcolepsy (ADCA-DN)DNMT11 condition→
- DOORS SyndromeATP6V1B2, TBC1D241 condition→
- DPH1-Related Developmental Delay with Short StatureDPH11 condition→
- DeSanto-Shinawi SyndromeWAC1 condition→
- Dias-Logan SyndromeBCL11A1 condition→
- Dopamine Transporter Deficiency SyndromeSLC6A31 condition→
- Dravet SyndromeSCN1A1 condition→
- Dystonia, Myotonia, Paroxysmal DyskinesiaACTB, ANO3, ARFGEF3, ATP1A3, BCAP31, CLCN1 +3021 conditions→
- EBF3-Related Neurodevelopmental Disorder (HADDS)EBF31 condition→
- EML1-Related Band HeterotopiaEML11 condition→
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectDNM1L, MFF1 condition→
- Epilepsy (Full Panel)AARS1, ABAT, ACTL6B, ADAM22, ALDH7A1, ALG13 +1865 conditions→
- FAT4-Related Neurodevelopmental DisorderFAT41 condition→
- FDXR-Related Mitochondrial DisorderFDXR1 condition→
- FOXP2-Related Speech and Language DisorderFOXP21 condition→
- Familial Hemiplegic MigraineATP1A2, CACNA1A, SCN1A8 conditions→
- Familial Periodic ParalysisCACNA1S, KCNJ2, SCN4A1 condition→
- Fowler SyndromeFLVCR21 condition→
- Fragile X SyndromeFMR12 conditions→
- Friedreich AtaxiaFXN1 condition→
- Frontotemporal DementiaC9orf72, CCNF, CHCHD10, CHMP2B, CYLD, GRN +72 conditions→
- GEMIN5-Related Neurodevelopmental DisorderGEMIN51 condition→
- GRIA2-Related Neurodevelopmental DisorderGRIA21 condition→
- GTP Cyclohydrolase 1 DeficiencyGCH11 condition→
- Genetic Prion Disease (incl. Fatal Familial Insomnia)PRNP5 conditions→
- HPCA-Related DystoniaHPCA1 condition→
- Hao-Fountain SyndromeUSP71 condition→
- Hereditary Episodic AtaxiasCACNA1A, KCNA1, SCN2A, SLC1A31 condition→
- Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)PMP221 condition→
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)AIFM1, ATL1, ATL3, CLCF1, CRLF1, DNMT1 +151 condition→
- Hereditary Spastic ParaplegiaABCD1, ABHD16A, ALDH18A1, AMFR, AP4B1, AP4E1 +6020 conditions→
- Huntington DiseaseHTT1 condition→
- Hyperekplexia 3 (SLC6A5)SLC6A51 condition→
- Inherited Neurodegenerative DisordersAARS1, AARS2, ABCB7, ABCD1, ABHD16A, ACER3 +3668 conditions→
- Intracranial Berry AneurysmTHSD11 condition→
- JARID2-Related Neurodevelopmental DisorderJARID21 condition→
- Jaberi-Elahi SyndromeGTPBP21 condition→
- Joubert Syndrome And Related DisordersAHI1, ARL13B, ARL3, ARMC9, B9D1, B9D2 +312 conditions→
- KAT6B-Related DisordersKAT6B1 condition→
- KCNH1-Related DisorderKCNH11 condition→
- KCNQ2-Related Neonatal Encephalopathy with Non-Epileptic MyoclonusKCNQ21 condition→
- KDM1A-Related Neurodevelopmental DisorderKDM1A1 condition→
- KIDINS220-Related Ventriculomegaly and ArthrogryposisKIDINS2201 condition→
- KIF5A-Related Amyotrophic Lateral SclerosisKIF5A1 condition→
- Kaufman Oculocerebrofacial SyndromeUBE3B1 condition→
- Kaya-Barakat-Masson SyndromeYIF1B1 condition→
- Kohlschütter-Tönz SyndromeROGDI1 condition→
- Krabbe DiseaseGALC1 condition→
- L1 SyndromeL1CAM1 condition→
- Lamb-Shaffer SyndromeSOX51 condition→
- Leigh SyndromeAIFM1, ATP5MK, BTD, COX10, DLAT, DLD +631 condition→
- Lessel-Kreienkamp SyndromeAGO21 condition→
- Lissencephaly Spectrum DisordersACTB, ACTG1, APC2, ARX, CDK5, CEP85L +175 conditions→
- MAPK8IP3-Related Neurodevelopmental DisorderMAPK8IP31 condition→
- MCM3AP-Related Peripheral NeuropathyMCM3AP1 condition→
- MCPH1-Related Primary MicrocephalyMCPH11 condition→
- MED27-Related Neurodevelopmental DisorderMED271 condition→
- MTOR Pathway Megalencephaly and Overgrowth DisordersAKT3, CCND2, MTOR, PIK3CA, PIK3R22 conditions→
- Meckel SyndromeB9D1, B9D2, KIF14, MKS1, RPGRIP1L, TCTN2 +41 condition→
- Megalencephalic Leukoencephalopathy with Subcortical CystsGPRC5B, HEPACAM, MLC11 condition→
- Metachromatic LeukodystrophyARSA, PSAP1 condition→
- Microcephaly and Chorioretinopathy 1 (TUBGCP6)TUBGCP61 condition→
- Mitchell SyndromeACOX11 condition→
- Mowat-Wilson SyndromeZEB21 condition→
- Multiple Sclerosis1 condition→
- Myotonic DystrophyCNBP, DMPK1 condition→
- NDE1-Related MicrolissencephalyNDE11 condition→
- NFIA-Related Brain MalformationsNFIA1 condition→
- NRROS-Related Early-Onset Seizures with NeurodegenerationNRROS1 condition→
- Neuroacanthocytosis and Huntington Disease PhenocopiesJPH3, VPS13A, XK2 conditions→
- Neurodegeneration with Brain Iron Accumulation (NBIA)ATP13A2, C19orf12, COASY, CP, DCAF17, FTH1 +41 condition→
- NeurofibromatosisLZTR1, NF1, NF2, SMARCB11 condition→
- Neuronal Ceroid LipofuscinosisATP13A2, CLCN6, CLN3, CLN5, CLN6, CLN8 +83 conditions→
- Neurooculocardiogenitourinary Syndrome (WDR37)WDR371 condition→
- Nizon-Isidor SyndromeMED12L1 condition→
- Orofaciodigital Syndrome Type 14C2CD31 condition→
- Other Inherited LeukodystrophiesAARS1, AARS2, ABCD1, ACER3, ADAR, AIMP1 +741 condition→
- PIP5K1C-Related Neurodevelopmental DisorderPIP5K1C1 condition→
- PNPLA6-Related Ataxia, Retinal Dystrophy and HypogonadismPNPLA61 condition→
- POLR1C-Related DisorderPOLR1C1 condition→
- POLR2A-Related Neurodevelopmental DisorderPOLR2A1 condition→
- POLR3A-Related DisorderPOLR3A1 condition→
- POLR3B-Related DisorderPOLR3B1 condition→
- PPP1R21-Related Neurodevelopmental DisorderPPP1R211 condition→
- PRR12-Related Neuroocular SyndromeDAGLA, PRR121 condition→
- Parkinson DiseaseATP13A2, CHCHD2, DNAJC6, FBXO7, GBA1, LRRK2 +92 conditions→
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesAIMP1, AIMP2, ATP11A, CLDN11, DARS1, DEGS1 +1920 conditions→
- Periventricular Nodular HeterotopiaARF1, ARFGEF2, FLNA, MAP1B, NEDD4L3 conditions→
- Poirier-Bienvenu Neurodevelopmental SyndromeCSNK2B1 condition→
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)AMPD2, CHMP1A, CLP1, COASY, EXOSC3, EXOSC8 +151 condition→
- Primary Microcephaly 26 (LMNB1)LMNB11 condition→
- Primrose SyndromeZBTB201 condition→
- RTTN-Related Microcephalic Primordial DwarfismRTTN1 condition→
- Radio-Tartaglia SyndromeSPEN1 condition→
- Rare Hereditary Peripheral NeuropathiesAARS1, ABHD12, AIFM1, APOA1, ARSA, ATL1 +2275 conditions→
- Rett Syndrome and MECP2-Related DisordersMECP23 conditions→
- Riboflavin Transporter DeficiencySLC52A2, SLC52A31 condition→
- SMARCC1-Associated Developmental Dysgenesis SyndromeSMARCC11 condition→
- SPOP-Related Neurodevelopmental Disorder with MacrocephalySPOP1 condition→
- SPTBN1-Related Neurodevelopmental DisorderSPTBN11 condition→
- SPTBN4-Related Neurodevelopmental DisorderSPTBN41 condition→
- SYNCRIP-Related Neurodevelopmental DisorderSYNCRIP1 condition→
- Sandestig-Stefanova SyndromeNUP1881 condition→
- Siddiqi SyndromeFITM21 condition→
- Skraban-Deardorff SyndromeWDR261 condition→
- Snijders Blok-Campeau SyndromeCHD31 condition→
- Spinal Muscular AtrophyASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1 +221 condition→
- Spinal and Bulbar Muscular Atrophy (Kennedy Disease)AR1 condition→
- Stankiewicz-Isidor SyndromePSMD121 condition→
- Syndromic Complex Neurodevelopmental DisorderAFG2A, ANKRD17, AP1S2, ASH1L, BRPF1, MYT1L +172 conditions→
- TANC2-Related Neurodevelopmental DisorderTANC21 condition→
- TCF20-Related Neurodevelopmental DisorderTCF201 condition→
- TMEM94-Related Intellectual Disability with Heart DefectsTMEM941 condition→
- TNR-Related Neurodevelopmental Disorder with SpasticityTNR1 condition→
- TRAPPC4-Related Neurodevelopmental DisorderTRAPPC41 condition→
- TRAPPC6B-Related Neurodevelopmental DisorderTRAPPC6B1 condition→
- TRAPPC9-Related Intellectual DisabilityTRAPPC91 condition→
- TRIM8-Related Neurodevelopmental and Kidney DisorderTRIM81 condition→
- Tuberous SclerosisTSC1, TSC21 condition→
- TubulinopathiesTUBA1A, TUBB, TUBB2A, TUBB32 conditions→
- Turnpenny-Fry SyndromePCGF21 condition→
- UBTF-Related NeuroregressionUBTF1 condition→
- UNC13A-Related Neurodevelopmental DisordersUNC13A2 conditions→
- VARS1-Related Neurodevelopmental DisorderVARS11 condition→
- VPS11-Related LeukodystrophyVPS111 condition→
- Vanishing White Matter DiseaseAARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B51 condition→
- Vascular Dementia Panel1 condition→
- Vici SyndromeEPG51 condition→
- Waardenburg SyndromeEDN3, EDNRB, KITLG, MITF, PAX3, SNAI2 +12 conditions→
- Warsaw Breakage SyndromeDDX111 condition→
- Wiedemann-Steiner SyndromeKMT2A1 condition→
- X-Linked Adrenoleukodystrophy (ABCD1)ABCD11 condition→
- You-Hoover-Fong Syndrome (TELO2)TELO21 condition→
- ZTTK SyndromeSON1 condition→
- Zellweger Spectrum & Peroxisome Biogenesis DisordersPEX1, PEX10, PEX11B, PEX12, PEX13, PEX14 +81 condition→
Nutrition
Issues related to diet, dietary intake, and the body's ability to absorb and utilize nutrients.
Zprávy o onemocněních v této kategorii (6)
- Acrodermatitis EnteropathicaSLC30A2, SLC39A42 conditions→
- Glucose-Galactose MalabsorptionSLC5A11 condition→
- Hereditary Folate MalabsorptionSLC46A11 condition→
- Hereditary Manganese Transporter DisordersSLC30A10, SLC39A141 condition→
- Lactase Non-Persistence (Adult-Type Lactose Intolerance)1 condition→
- Thiamine Transporter and Metabolism DisordersSLC19A2, SLC19A3, SLC25A19, TPK11 condition→
Ophthalmological
Conditions affecting the eyes, vision, and related structures.
Zprávy o onemocněních v této kategorii (51)
- ADAM9-Related Cone-Rod DystrophyADAM91 condition→
- AchromatopsiaATF6, CNGA3, CNGB3, GNAT2, OPN1LW, OPN1MW +26 conditions→
- Age-Related Macular DegenerationCFH, MFSD82 conditions→
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaCPAMD8, ELP4, FOXC1, FOXE3, ITPR1, PAX6 +33 conditions→
- BMP4-Related Microphthalmia and AnophthalmiaBMP41 condition→
- CACNA2D4-Related RetinopathyCACNA2D41 condition→
- CEP290-Related CiliopathyCEP2901 condition→
- CWC27-Related Retinitis Pigmentosa with Skeletal AnomaliesCWC271 condition→
- ChoroideremiaCHM1 condition→
- Colour Vision DeficiencyOPN1LW, OPN1MW, OPN1SW4 conditions→
- Cone-Rod Dystrophy 20 (POC1B)POC1B1 condition→
- Cone-Rod Dystrophy and Hearing Loss 2 (CEP250)CEP2501 condition→
- Congenital Cranial Dysinnervation DisordersCHN1, COL25A1, KIF21A, MAFB, PHOX2A, TUBA1A +12 conditions→
- Congenital Stationary Night BlindnessCABP4, CACNA1F, GNAT1, GNB3, GPR179, GRK1 +132 conditions→
- FHONDA SyndromeSLC38A81 condition→
- Fraser SyndromeFRAS1, FREM2, GRIP12 conditions→
- Frontonasal Dysplasia 3 (ALX1)ALX11 condition→
- GPR143-Related Foveal Hypoplasia (Ocular Albinism Type 1)GPR1431 condition→
- GUCY2D-Related Dominant Cone-Rod DystrophyGUCY2D1 condition→
- GUCY2D-Related Recessive RetinopathyGUCY2D1 condition→
- GlaucomaCYP1B1, EFEMP1, FOXC1, LTBP2, MYOC, OPTN +21 condition→
- Gyrate Atrophy of the Choroid and RetinaOAT1 condition→
- Hereditary Congenital & Juvenile CataractBFSP1, CHMP4B, CRYAB, CRYBA1, CRYBA2, CRYBA4 +172 conditions→
- Hereditary Corneal DystrophiesCHST6, COL17A1, COL8A2, DCN, GRHL2, GSN +131 condition→
- Hereditary Macular DystrophiesBEST1, CYP4V2, EFEMP1, PRDM13, PRPH2, RDH5 +48 conditions→
- Hereditary Optic NeuropathyACO2, AFG3L2, ATP1A3, DNM1L, MT-ND1, MT-ND4 +71 condition→
- Horizontal Gaze Palsy with Progressive ScoliosisROBO31 condition→
- IFT140-Related CiliopathyIFT1401 condition→
- IMPG1-Related Dominant RetinopathyIMPG11 condition→
- IMPG1-Related RetinopathyIMPG11 condition→
- Jalili SyndromeCNNM41 condition→
- Leber Congenital Amaurosis & RPE65-Related RetinopathyAIPL1, CCT2, CEP290, CRB1, CRX, GUCY2D +153 conditions→
- Microcornea-Myopic Chorioretinal AtrophyADAMTS181 condition→
- Microphthalmia, Anophthalmia & ColobomaALDH1A3, BCOR, BMP4, COX7B, ERCC1, ERCC2 +222 conditions→
- Molybdenum Cofactor & Isolated Sulfite Oxidase DeficiencyGPHN, MOCS1, MOCS2, SUOX2 conditions→
- Nance-Horan SyndromeNHS1 condition→
- OPA1-Related Optic AtrophyOPA11 condition→
- OPTN-Related Normal-Tension GlaucomaOPTN1 condition→
- Oculocutaneous AlbinismDCT, GPR143, LRMDA, OCA2, SLC24A5, SLC45A2 +22 conditions→
- PROM1-Related Recessive RetinopathyPROM11 condition→
- RAB28-Related Cone-Rod DystrophyRAB281 condition→
- RDH12-Related Early-Onset Retinal DystrophyRDH121 condition→
- RDH5-Related Retinopathy (Fundus Albipunctatus)PRPH2, RDH5, RLBP11 condition→
- ROSAH SyndromeALPK11 condition→
- Retinal Dystrophy Due to Retinol Transport Defect (RBP4)RBP41 condition→
- Retinitis PigmentosaABCA4, AGBL5, AHR, ARHGEF18, ARL2BP, ARL3 +7426 conditions→
- Smith-Lemli-Opitz SyndromeDHCR71 condition→
- Stargardt DiseaseABCA4, ELOVL4, PROM14 conditions→
- TTLL5-Related RetinopathyTTLL51 condition→
- TUBB4B-Related CiliopathyTUBB4B1 condition→
- VitreoretinopathyATOH7, BEST1, CAPN5, COL11A1, COL18A1, COL2A1 +219 conditions→
Oral
A broader category than dental, including conditions of the entire mouth, such as the tongue, salivary glands, and inner lining (mucosa).
Zprávy o onemocněních v této kategorii (9)
- Amelogenesis ImperfectaACP4, AMBN, AMELX, DLX3, ENAM, FAM20A +111 condition→
- Blepharocheilodontic Syndrome 2 (CTNND1)CTNND11 condition→
- Dentinogenesis ImperfectaDSPP, SMOC22 conditions→
- Hereditary Gingival FibromatosisREST, SOS11 condition→
- Hereditary Orofacial CleftingARHGAP29, BMP4, GRHL3, IRF6, MSX1, TBX226 conditions→
- Hypodontia and AnodontiaEDA, LRP6, MSX1, PAX9, TSPEAR, WNT10A +12 conditions→
- OFD1-Related CiliopathyOFD11 condition→
- Primary Failure of Tooth EruptionPTH1R1 condition→
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)GRHL3, IRF6, RIPK41 condition→
Other
Miscellaneous conditions that do not fit into other classifications.
Zprávy o onemocněních v této kategorii (8)
- 22q11.2 Deletion SyndromeTBX11 condition→
- Bardet-Biedl and Alström SyndromesALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12 +172 conditions→
- CHARGE SyndromeCHD71 condition→
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannCDKN1C, H19, HMGA2, IGF2, MAGEL2, NLRP5 +33 conditions→
- LAMA5-Related Multisystemic SyndromeLAMA51 condition→
- Simpson-Golabi-Behmel SyndromeGPC31 condition→
- Werner SyndromeWRN1 condition→
- X-Linked Opitz G/BBB SyndromeMID11 condition→
Otolaryngological
Conditions related to the ear, nose, and throat.
Zprávy o onemocněních v této kategorii (11)
- Björnstad SyndromeBCS1L1 condition→
- Branchio-Oto-Renal Spectrum DisorderEYA1, SIX1, SIX51 condition→
- Burn-McKeown SyndromeTXNL4A1 condition→
- Chudley-McCullough SyndromeGPSM21 condition→
- Deafness-Dystonia-Optic Neuronopathy SyndromeTIMM8A1 condition→
- Hearing Loss and DeafnessACTG1, AFG2B, AIFM1, ATP11A, ATP2B2, CABP2 +915 conditions→
- High Myopia with Sensorineural DeafnessSLITRK61 condition→
- Johanson-Blizzard SyndromeUBR11 condition→
- Labyrinthine Aplasia, Microtia and Microdontia (LAMM)FGF31 condition→
- Treacher Collins SyndromePOLR1B, POLR1C, POLR1D, TCOF11 condition→
- Usher SyndromeADGRV1, ARSG, CDH23, CLRN1, HARS1, MYO7A +51 condition→
Psychiatric
Disorders affecting mental health, mood, behaviour, and emotional well-being.
Zprávy o onemocněních v této kategorii (4)
Respiratory
Conditions involving the lungs, airways (trachea, bronchi), and the mechanics of breathing.
Zprávy o onemocněních v této kategorii (10)
- Alpha-1 Antitrypsin DeficiencySERPINA11 condition→
- Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsFOXF11 condition→
- Asthma1 condition→
- Congenital Central Hypoventilation SyndromePHOX2B1 condition→
- Congenital Diaphragmatic Hernia (Monogenic)ALDH1A2, PLS3, ZFPM21 condition→
- Cystic FibrosisCFTR1 condition→
- Familial Pulmonary FibrosisNAF1, PARN, POT1, RPA1, RTEL1, SFTPA1 +33 conditions→
- Primary Ciliary DyskinesiaCCDC39, CCDC40, CCNO, CENPF, CFAP20DC, CFAP221 +441 condition→
- Pulmonary Alveolar MicrolithiasisSLC34A21 condition→
- Surfactant Metabolism DysfunctionABCA3, CSF2RA, CSF2RB, MARS1, SFTPB, SFTPC2 conditions→
Sexual Health
Issues related to reproductive health, sexual function, and sexually transmitted infections (STIs).
Zprávy o onemocněních v této kategorii (8)
- 46,XX Differences of Sex DevelopmentNR5A1, RSPO1, SOX3, SRY1 condition→
- 46,XY Differences of Sex Development and Gonadal DysgenesisAMH, AMHR2, AR, ATRX, CYP11A1, DHH +135 conditions→
- Androgen Insensitivity SyndromeAR1 condition→
- Female InfertilityANKRD31, ATM, BMP15, BNC1, BTG4, CDC20 +474 conditions→
- Hereditary HypospadiasMAMLD14 conditions→
- Male InfertilityACTL9, ARMC2, AURKC, BCORL1, CDC14A, CFAP251 +385 conditions→
- Müllerian Aplasia (MRKH Syndrome)TBX6, WNT41 condition→
- Sex Chromosome Aneuploidies5 conditions→
Sleep
Disorders that affect the quality, timing, and amount of sleep, impacting overall health.
Zprávy o onemocněních v této kategorii (1)
Toxicology
Conditions resulting from exposure to poisons, toxins, drugs, or other harmful chemical substances.
Zprávy o onemocněních v této kategorii (4)
Urological
Disorders related to the kidneys and prostate, their function, and the overall urinary system.
Zprávy o onemocněních v této kategorii (25)
- Alport SyndromeCOL4A3, COL4A4, COL4A51 condition→
- Autosomal Dominant Tubulointerstitial Kidney DiseaseHNF1B, MUC1, REN, SEC61A1, UMOD2 conditions→
- Bartter DiseaseBSND, CLCNKB, KCNJ1, MAGED2, SLC12A16 conditions→
- CEP164-Related CiliopathyCEP1641 condition→
- Congenital Anomalies of the Kidney and Urinary TractDSTYK, EYA1, GFRA1, GREB1L, ITGA8, PAX2 +58 conditions→
- CystinuriaSLC3A1, SLC7A91 condition→
- Dent Disease and Lowe SyndromeCLCN5, OCRL2 conditions→
- Familial HypomagnesemiaATP1A1, CLDN10, CLDN16, CLDN19, CNNM2, FXYD2 +53 conditions→
- Fanconi Renotubular Syndrome and Renal GlucosuriaEHHADH, GATM, HNF4A, SLC5A22 conditions→
- Focal Segmental GlomerulosclerosisACTN4, ANLN, APOL1, CD2AP, CRB2, FAT1 +43 conditions→
- Gitelman SyndromeSLC12A31 condition→
- GlomerulosclerosisACTN4, ANLN, CRB2, FAT1, INF2, MYO1E +21 condition→
- Hemolytic Uremic Syndrome, Interstitial NephritisC3, CD46, CFB, CFH, CFHR5, CFI +322 conditions→
- KCNJ16-Related Hypokalaemic TubulopathyKCNJ161 condition→
- Kidney CancerBAP1, ELP4, FLCN, MET, PAX6, SDHB +31 condition→
- NEK8-Related Renal-Hepatic-Pancreatic DysplasiaNEK81 condition→
- Nephrogenic Diabetes InsipidusAQP2, AVPR22 conditions→
- Nephronophthisis and Senior-Løken SyndromeADAMTS9, ANKS6, CEP164, CEP83, DCDC2, GLIS2 +142 conditions→
- Nephrotic SyndromeACTN4, ARHGDIA, COQ6, COQ8B, DAAM2, DGKE +231 condition→
- PBX1-Related Kidney and Urinary Tract AnomaliesPBX11 condition→
- Polycystic Kidney DiseaseALG5, ALG8, ALG9, DNAJB11, DZIP1L, GANAB +51 condition→
- Renal HypouricemiaSLC22A12, SLC2A91 condition→
- Renal Tubular AcidosisATP6V0A4, ATP6V1B1, FOXI1, SLC4A1, SLC4A3, SLC4A42 conditions→
- Renal Tubular DysgenesisACE, AGT, AGTR1, REN1 condition→
- Urinary and Renal System TumourBAP1, ELP4, FLCN, MET, PAX6, RET +61 condition→
Brain & nervous system
Genetic predisposition to neurological conditions such as dementia and migraine.
Rizikové skóre v této kategorii (2)
Cancer
Diseases characterized by the uncontrolled growth and spread of abnormal cells; also known as oncological conditions.
Rizikové skóre v této kategorii (7)
Digestive health
Genetic predisposition to common conditions of the gut, such as acid reflux.
Rizikové skóre v této kategorii (3)
Heart & circulation
Genetic predisposition to heart disease, stroke, blood clots and the blood markers behind them.
Rizikové skóre v této kategorii (9)
Immune & inflammatory
Genetic predisposition to autoimmune, allergic and inflammatory conditions.
Rizikové skóre v této kategorii (3)
Lifestyle & traits
Genetic influences on everyday traits such as sleep, coffee, vitamin D and skin.
Rizikové skóre v této kategorii (6)
Longevity & ageing
Genetic influences on lifespan and on conditions that become more common with age.
Rizikové skóre v této kategorii (7)
Mental health & wellbeing
Genetic predisposition to common mental health conditions and aspects of wellbeing.
Rizikové skóre v této kategorii (8)
Metabolism & body
Genetic influences on blood sugar, body size and metabolic health.
Rizikové skóre v této kategorii (5)
- NEJSTE SI JISTI, S ČÍM ZAČÍT?Pokud máte nevysvětlitelné příznaky a žádnou diagnózu, sekvenování celého genomu může přinést odpovědi tam, kde jiné testy nepomohly.Zjistit více →
- HLEDÁTE GEN?Každý gen, z něhož tyto zprávy vycházejí, od A do Z, u každého s onemocněními, se kterými je spojen.Procházet geny →
Také zahrnuto
Jedno sekvenování odpoví na více než jednu otázku.
Stejná data celého genomu se znovu využijí pro všechny níže uvedené analýzy — žádný druhý vzorek, žádná další sada.
Obě větve, z celého genomu.
Autozomální původ napříč všemi liniemi, od kterých pocházíte, a analýza Y-chromozomu pro přímou otcovskou linii — čtená z vašeho kompletního genomu, nikoli z pouhého zlomku, který vzorkuje genotypizační čip.
Jeden test. Všechna zde uvedená onemocnění.
Celý váš genom je sekvenován v klinické kvalitě s 30x hloubkou. Všechna výše uvedená onemocnění i tisíce dalších jsou analyzována v jediném testu. Výsledky budou dodány jako 810+ zpráv připravených pro lékaře během 6–8 týdnů.
Doprava zdarma · Výsledky za 6–8 týdnů
