Kenmerk
Firm lump under the skin
Klinische naam: Subcutaneous nodule
Slightly elevated lesions on or in the skin with a diameter of over 5 mm.
Samenvatting
- Ook bekend als
- Growth of abnormal tissue under the skin, Nodule below the skin
- Lichaamssysteem
- Abnormality of the integument
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page$trait$nameLees de genen die aan Firm lump under the skin gekoppeld zijn, en de rest van uw genoom, met één test.
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Mijn Genome Test bestellen72 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 2 of these genesAKT1PTENAbout this report →
- Fibrodysplasia Ossificans ProgressivaReads 2 of these genesACVR1GNASAbout this report →
- Hereditary FibromatosesReads 2 of these genesANTXR2PDGFRBAbout this report →
- Neuroblastoma Predisposition (ALK and PHOX2B)Reads 2 of these genesALKPHOX2BAbout this report →
Show 68 more reports
- Tuberous SclerosisReads 2 of these genesTSC1TSC2About this report →
- Hereditary Arterial CalcificationReads 2 of these genesABCC6ENPP1About this report →
- Noonan SyndromeReads 5 of these genesBRAFKRASNRASPTPN11RAF1About this report →
- Familial Paget Disease of BoneReads 2 of these genesTNFRSF11ATNFRSF11BAbout this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- Caffey DiseaseReads 1 of these genesCOL1A1About this report →
- Congenital Central Hypoventilation SyndromeReads 1 of these genesPHOX2BAbout this report →
- CTNNB1 SyndromeReads 1 of these genesCTNNB1About this report →
- CYLD Cutaneous SyndromeReads 1 of these genesCYLDAbout this report →
- Fabry DiseaseReads 1 of these genesGLAAbout this report →
- Familial Mediterranean FeverReads 1 of these genesMEFVAbout this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- Glutaminase DeficiencyReads 1 of these genesGLSAbout this report →
- Lamb-Shaffer SyndromeReads 1 of these genesSOX5About this report →
- Lipoid ProteinosisReads 1 of these genesECM1About this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Townes-Brocks SyndromeReads 1 of these genesSALL1About this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 2 of these genesFASKRASAbout this report →
- Basal Ganglia CalcificationReads 2 of these genesPDGFBPDGFRBAbout this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Dent Disease and Lowe SyndromeReads 1 of these genesOCRLAbout this report →
- Pseudoxanthoma ElasticumReads 1 of these genesABCC6About this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- Hypertrophic CardiomyopathyReads 5 of these genesBRAFKRASNRASPTPN11RAF1About this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 2 of these genesIFNGR1IL23RAbout this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesPHOX2BAbout this report →
- Leukocyte Adhesion DeficiencyReads 1 of these genesFERMT3About this report →
- OsteopetrosisReads 2 of these genesTNFRSF11AFERMT3About this report →
- Hereditary Vascular MalformationsReads 1 of these genesTEKAbout this report →
- MelanomaReads 1 of these genesCDK4About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 1 of these genesGNASAbout this report →
- Autoimmune DiseaseReads 2 of these genesFASKRASAbout this report →
- Syndromic CraniosynostosisReads 2 of these genesFGFR1FGFR2About this report →
- Other Inborn Errors of ImmunityReads 6 of these genesC4AFASIL10IL23RKRASB2MAbout this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesIL10About this report →
- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesMYSM1About this report →
- Lysosomal Storage DiseaseReads 3 of these genesASAH1GLANAGAAbout this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesNAGAAbout this report →
- Colorectal Cancer & PolyposisReads 1 of these genesAPCAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 2 of these genesCYLDFUSAbout this report →
- GlaucomaReads 1 of these genesTEKAbout this report →
- Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)Reads 1 of these genesENPP1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesHMGA2About this report →
- Marfan Like SyndromesReads 1 of these genesFBN1About this report →
- HyperinsulinismReads 1 of these genesINSRAbout this report →
- Hereditary AmyloidosisReads 1 of these genesB2MAbout this report →
- Type I InterferonopathiesReads 1 of these genesPOMPAbout this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Frontotemporal DementiaReads 1 of these genesCYLDAbout this report →
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixReads 1 of these genesLSSAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesKIF11About this report →
- Inherited Complement and Properdin DeficienciesReads 1 of these genesC4AAbout this report →
- Epidermolysis BullosaReads 1 of these genesCOL7A1About this report →
- Ehlers-Danlos SyndromeReads 1 of these genesCOL1A1About this report →
- Epilepsy (Full Panel)Reads 3 of these genesGLSHACE1ZEB2About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesLSSAbout this report →
- Inherited Neurodegenerative DisordersReads 4 of these genesASAH1CYLDFUSHACE1About this report →
- VitreoretinopathyReads 1 of these genesCTNNB1About this report →
- Spinal Muscular AtrophyReads 1 of these genesASAH1About this report →
- Thyroid CancerReads 1 of these genesGNASAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesCOL1A1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesPOMPAbout this report →
- Dilated CardiomyopathyReads 1 of these genesRAF1About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesFGFR1About this report →
- Intellectual DisabilityReads 2 of these genesCTNNB1ZEB2About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesHACE1About this report →
Lees de genen die aan Firm lump under the skin gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen81 genen gekoppeld aan Firm lump under the skin
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Firm lump under the skin voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ASAH1N-acylsphingosine amidohydrolase 1 | Altijd | In 1 aandoening |
| GLSglutaminase | Altijd | In 1 aandoening |
| POMPproteasome maturation protein | Altijd | In 1 aandoening |
| ACVR1activin A receptor type 1 | Heel vaak (80–99%) | In 1 aandoening |
| AKT1AKT serine/threonine kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ANTXR2ANTXR cell adhesion molecule 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| APCAPC regulator of Wnt signaling pathway | Heel vaak (80–99%) | In 1 aandoening |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Heel vaak (80–99%) | In 3 aandoeningen |
| C4Acomplement C4A (Chido/Rodgers blood group) | Heel vaak (80–99%) | In 1 aandoening |
| CCR1C-C motif chemokine receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| CDK4cyclin dependent kinase 4 | Heel vaak (80–99%) | In 1 aandoening |
| COL1A1collagen type I alpha 1 chain | Heel vaak (80–99%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CYLDCYLD lysine 63 deubiquitinase | Heel vaak (80–99%) | In 2 aandoeningen |
| DDIT3DNA damage inducible transcript 3 | Heel vaak (80–99%) | In 1 aandoening |
| ECM1extracellular matrix protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| FASFas cell surface death receptor | Heel vaak (80–99%) | In 1 aandoening |
| FGFR1fibroblast growth factor receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Heel vaak (80–99%) | In 1 aandoening |
| FUSFUS RNA binding protein | Heel vaak (80–99%) | In 1 aandoening |
| GLAgalactosidase alpha | Heel vaak (80–99%) | In 1 aandoening |
| GNASGNAS complex locus | Heel vaak (80–99%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Heel vaak (80–99%) | In 1 aandoening |
| HMGA2high mobility group AT-hook 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| IFNGR1interferon gamma receptor 1 | Heel vaak (80–99%) | In 1 aandoening |
| IL10interleukin 10 | Heel vaak (80–99%) | In 1 aandoening |
| IL12Ainterleukin 12A | Heel vaak (80–99%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Heel vaak (80–99%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | Heel vaak (80–99%) | In 1 aandoening |
| INSRinsulin receptor | Heel vaak (80–99%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Heel vaak (80–99%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| LSSlanosterol synthase | Heel vaak (80–99%) | In 1 aandoening |
| MDM2MDM2 proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Heel vaak (80–99%) | In 1 aandoening |
| NAGAalpha-N-acetylgalactosaminidase | Heel vaak (80–99%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Heel vaak (80–99%) | In 1 aandoening |
| PDGFBplatelet derived growth factor subunit B | Heel vaak (80–99%) | In 1 aandoening |
| PDGFRBplatelet derived growth factor receptor beta | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 41 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| PTENphosphatase and tensin homolog | Heel vaak (80–99%) | In 3 aandoeningen |
| STAT4signal transducer and activator of transcription 4 | Heel vaak (80–99%) | In 1 aandoening |
| TLR4toll like receptor 4 | Heel vaak (80–99%) | In 1 aandoening |
| UBAC2UBA domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| B2Mbeta-2-microglobulin | Vaak (30–79%) | In 1 aandoening |
| DACT1dishevelled binding antagonist of beta catenin 1 | Vaak (30–79%) | In 1 aandoening |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Vaak (30–79%) | In 2 aandoeningen |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Vaak (30–79%) | In 2 aandoeningen |
| MMP14matrix metallopeptidase 14 | Vaak (30–79%) | In 1 aandoening |
| MMP2matrix metallopeptidase 2 | Vaak (30–79%) | In 2 aandoeningen |
| PORCNporcupine O-acyltransferase | Vaak (30–79%) | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Vaak (30–79%) | In 1 aandoening |
| SALL1spalt like transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| TEKTEK receptor tyrosine kinase | Vaak (30–79%) | In 1 aandoening |
| ABCC6ATP binding cassette subfamily C member 6 | Soms (5–29%) | In 1 aandoening |
| ALKALK receptor tyrosine kinase | Soms (5–29%) | In 2 aandoeningen |
| BTNL2butyrophilin like 2 | Soms (5–29%) | In 1 aandoening |
| COL7A1collagen type VII alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Soms (5–29%) | In 1 aandoening |
| FBN1fibrillin 1 | Soms (5–29%) | In 1 aandoening |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 1 aandoening |
| LEMD3LEM domain containing 3 | Soms (5–29%) | In 2 aandoeningen |
| LIN28Blin-28 RNA binding posttranscriptional regulator B | Soms (5–29%) | In 1 aandoening |
| LMO1LIM domain only 1 | Soms (5–29%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Soms (5–29%) | In 1 aandoening |
| MYSM1Myb like, SWIRM and MPN domains 1 | Soms (5–29%) | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| PHOX2Bpaired like homeobox 2B | Soms (5–29%) | In 1 aandoening |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Soms (5–29%) | In 1 aandoening |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Soms (5–29%) | In 2 aandoeningen |
| SOX5SRY-box transcription factor 5 | Soms (5–29%) | In 1 aandoening |
| TNFRSF11ATNF receptor superfamily member 11a | Soms (5–29%) | In 1 aandoening |
| TNFRSF11BTNF receptor superfamily member 11b | Soms (5–29%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Soms (5–29%) | In 1 aandoening |
| FERMT3FERM domain containing kindlin 3 | Niet vastgelegd | In 1 aandoening |
| IFNGinterferon gamma | Niet vastgelegd | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Niet vastgelegd | In 1 aandoening |
| TSC1TSC complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| TSC2TSC complex subunit 2 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.19-9814e911.
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