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Merkmal
Decreased muscle tone in infant
Klinische Bezeichnung: Floppy infant
Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape).
Zusammenfassung
- Auch genannt
- Hypotonia early, Hypotonia in infancy, Hypotonia, early, Infantile hypotonia, Infantile muscular hypotonia
- Körpersystem
- Abnormality of the musculoskeletal system
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Lesen Sie die Gene aus, die mit Decreased muscle tone in infant zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
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Meinen Genome Test bestellen96 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.
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- Epilepsy (Full Panel)Reads 34 of these genesMECP2PIGQATP6V1ANACC1SLC35A2ARXAbout this report →
- Intellectual DisabilityReads 32 of these genesKDM6BMECP2ASXL3MAN1B1NACC1PIGLAbout this report →
Show 92 more reports
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- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 3 of these genesSMARCA4SMARCB1SMARCE1About this report →
- Leigh SyndromeReads 12 of these genesSUCLG1GTPBP3MT-ATP6MT-ND1MT-ND3MT-ND4About this report →
- DOORS SyndromeReads 2 of these genesATP6V1B2TBC1D24About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 4 of these genesMAGEL2SNRPNH19IGF2About this report →
- Congenital Muscular DystrophiesReads 6 of these genesFKRPGMPPBLARGE1POMT1POMT2DAG1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 17 of these genesDSTSUCLG1IARS2GTPBP3MT-ATP6MT-ND1About this report →
- Hereditary Optic NeuropathyReads 4 of these genesMT-ND1MT-ND4MT-ND5MT-ND6About this report →
- Hereditary Episodic AtaxiasReads 2 of these genesKCNA1SCN2AAbout this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Angelman SyndromeReads 1 of these genesUBE3AAbout this report →
- DLL1-Related Neurodevelopmental DisorderReads 1 of these genesDLL1About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- GM1 Gangliosidosis and Morquio B SyndromeReads 1 of these genesGLB1About this report →
- HyperlysinaemiaReads 1 of these genesAASSAbout this report →
- ITCH DeficiencyReads 1 of these genesITCHAbout this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Pompe DiseaseReads 1 of these genesGAAAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- UBTF-Related NeuroregressionReads 1 of these genesUBTFAbout this report →
- Very Long Chain Acyl-Coa Dehydrogenase DeficiencyReads 1 of these genesACADVLAbout this report →
- You-Hoover-Fong Syndrome (TELO2)Reads 1 of these genesTELO2About this report →
- ZTTK SyndromeReads 1 of these genesSONAbout this report →
- Cutis LaxaReads 3 of these genesATP6V0A2ATP6V1AATP6V1E1About this report →
- Gilbert SyndromeReads 1 of these genesUGT1A1About this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 1 of these genesPTCH1About this report →
- Hypogonadotropic HypogonadismReads 5 of these genesMAGEL2CPEFGF8FGFR1SNRPNAbout this report →
- Limb-Girdle Muscular DystrophyReads 4 of these genesFKRPGMPPBDAG1TRAPPC11About this report →
- Ehlers-Danlos SyndromeReads 3 of these genesPRDM5ZNF469COL5A1About this report →
- Inherited Neurodegenerative DisordersReads 12 of these genesADARASAH1CWF19L1MT-ND1MT-ND4MT-ND5About this report →
- Urea Cycle DisorderReads 2 of these genesNAGSSLC7A7About this report →
- Cerebral Creatine Deficiency SyndromesReads 1 of these genesGAMTAbout this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Lysosomal Storage DiseaseReads 4 of these genesGAAGLB1ASAH1NEU1About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 2 of these genesADGRG1TUBB2BAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 2 of these genesACADSACADVLAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesSOX11About this report →
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- NeurofibromatosisReads 1 of these genesSMARCB1About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesDNMT3AAbout this report →
- Polycystic Liver Disease (1 and 2)Reads 1 of these genesLRP5About this report →
- Thiamine Transporter and Metabolism DisordersReads 1 of these genesSLC19A3About this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesLRP5About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 2 of these genesDSTSCN9AAbout this report →
- Syndromic Complex Neurodevelopmental DisorderReads 2 of these genesAFG2AMYT1LAbout this report →
- Syndromic CraniosynostosisReads 2 of these genesFGFR1FGFR3About this report →
- Cornelia de Lange SyndromeReads 1 of these genesSMC1AAbout this report →
- Congenital Myasthenic SyndromeReads 2 of these genesGMPPBDPAGT1About this report →
- Hypertrophic CardiomyopathyReads 3 of these genesH19IGF2ACADVLAbout this report →
- Spinal Muscular AtrophyReads 2 of these genesASAH1UBA1About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesNEU1About this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesSIM1About this report →
- Diabetes MellitusReads 2 of these genesMT-TL1KCNJ11About this report →
- Aicardi-Goutieres SyndromeReads 1 of these genesADARAbout this report →
- Oculocutaneous AlbinismReads 1 of these genesOCA2About this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesDPYDAbout this report →
- Osteogenesis ImperfectaReads 2 of these genesATP6V0A2LRP5About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesWARS2PNKPAbout this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesNODALAbout this report →
- HyperinsulinismReads 1 of these genesKCNJ11About this report →
- Maturity-Onset Diabetes Of The YoungReads 1 of these genesKCNJ11About this report →
- OsteopetrosisReads 1 of these genesLRP5About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 1 of these genesPEX13About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesCWF19L1PNKPAbout this report →
- Primary Mitochondrial DiseaseReads 3 of these genesSUCLG1GTPBP3MTRFRAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesFAT4About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesSTILAbout this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesATRXAbout this report →
- Epidermolysis BullosaReads 1 of these genesDSTAbout this report →
- Other Inherited LeukodystrophiesReads 2 of these genesADARPEX13About this report →
- Congenital HypothyroidismReads 1 of these genesNKX2-1About this report →
- Congenital MyopathiesReads 1 of these genesTNNT1About this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesAHCYAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesKCNJ11About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesMAFAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesARXAbout this report →
- VitreoretinopathyReads 1 of these genesLRP5About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesSHHAbout this report →
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- Dilated CardiomyopathyReads 1 of these genesDOLKAbout this report →
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Lesen Sie die Gene aus, die mit Decreased muscle tone in infant zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen205 Gene mit Decreased muscle tone in infant verknüpft
Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen Decreased muscle tone in infant auftritt. Die meisten Menschen mit diesem Merkmal haben keine dieser Erkrankungen, und ein Gen auf dieser Liste sagt nichts über das eigene Genom einer Person aus.
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| COG8component of oligomeric golgi complex 8 | Immer | In 2 Erkrankungen |
| DSTdystonin | Immer | In 1 Erkrankung |
| KDM6Blysine demethylase 6B | Immer | In 1 Erkrankung |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Immer | In 1 Erkrankung |
| MECP2methyl-CpG binding protein 2 | Immer | In 2 Erkrankungen |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Immer | In 2 Erkrankungen |
| SIAH1siah E3 ubiquitin protein ligase 1 | Immer | In 1 Erkrankung |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Immer | In 2 Erkrankungen |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ASXL3ASXL transcriptional regulator 3 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| ATP6V1AATPase H+ transporting V1 subunit A | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| B4GALT1beta-1,4-galactosyltransferase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| COG5component of oligomeric golgi complex 5 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| DCHS1dachsous cadherin-related 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ERMARDER membrane associated RNA degradation | Sehr häufig (80–99 %) | In 1 Erkrankung |
| FAT4FAT atypical cadherin 4 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| FKRPfukutin related protein | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GAAalpha glucosidase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GLB1galactosidase beta 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GMPPBGDP-mannose pyrophosphorylase B | Sehr häufig (80–99 %) | In 1 Erkrankung |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sehr häufig (80–99 %) | In 1 Erkrankung |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MAGEL2MAGE family member L2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MAN1B1mannosidase alpha class 1B member 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NACC1nucleus accumbens associated 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NTNG2netrin G2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PGAP2post-GPI attachment to proteins 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Sehr häufig (80–99 %) | In 1 Erkrankung |
| POMT1protein O-mannosyltransferase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| POMT2protein O-mannosyltransferase 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PRMT7protein arginine methyltransferase 7 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RAI1retinoic acid induced 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
165 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| SIM1SIM bHLH transcription factor 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SLC35A2solute carrier family 35 member A2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SYT1synaptotagmin 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sehr häufig (80–99 %) | In 1 Erkrankung |
| AASSaminoadipate-semialdehyde synthase | Häufig (30–79 %) | In 1 Erkrankung |
| ACADSacyl-CoA dehydrogenase short chain | Häufig (30–79 %) | In 1 Erkrankung |
| ADARadenosine deaminase RNA specific | Häufig (30–79 %) | In 1 Erkrankung |
| ADAT3adenosine deaminase tRNA specific 3 | Häufig (30–79 %) | In 1 Erkrankung |
| ADGRG1adhesion G protein-coupled receptor G1 | Häufig (30–79 %) | In 1 Erkrankung |
| ADNPactivity dependent neuroprotector homeobox | Häufig (30–79 %) | In 1 Erkrankung |
| AFG2AAAA ATPase AFG2A | Häufig (30–79 %) | In 1 Erkrankung |
| AHCYadenosylhomocysteinase | Häufig (30–79 %) | In 1 Erkrankung |
| ARID1AAT-rich interaction domain 1A | Häufig (30–79 %) | In 1 Erkrankung |
| ARID1BAT-rich interaction domain 1B | Häufig (30–79 %) | In 1 Erkrankung |
| ARID2AT-rich interaction domain 2 | Häufig (30–79 %) | In 1 Erkrankung |
| ARXaristaless related homeobox | Häufig (30–79 %) | In 1 Erkrankung |
| ASAH1N-acylsphingosine amidohydrolase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| ATP10AATPase phospholipid transporting 10A (putative) | Häufig (30–79 %) | In 1 Erkrankung |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Häufig (30–79 %) | In 2 Erkrankungen |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Häufig (30–79 %) | In 1 Erkrankung |
| CASKcalcium/calmodulin dependent serine protein kinase | Häufig (30–79 %) | In 2 Erkrankungen |
| CDKL5cyclin dependent kinase like 5 | Häufig (30–79 %) | In 1 Erkrankung |
| CDONcell adhesion associated, oncogene regulated | Häufig (30–79 %) | In 4 Erkrankungen |
| CPEcarboxypeptidase E | Häufig (30–79 %) | In 1 Erkrankung |
| CRIPTOcripto, EGF-CFC family member | Häufig (30–79 %) | In 4 Erkrankungen |
| CWF19L1CWF19 like cell cycle control factor 1 | Häufig (30–79 %) | In 1 Erkrankung |
| DAG1dystroglycan 1 | Häufig (30–79 %) | In 1 Erkrankung |
| DEAF1DEAF1 transcription factor | Häufig (30–79 %) | In 1 Erkrankung |
| DISP1dispatched RND transporter family member 1 | Häufig (30–79 %) | In 4 Erkrankungen |
| DLL1delta like canonical Notch ligand 1 | Häufig (30–79 %) | In 4 Erkrankungen |
| DMXL2Dmx like 2 | Häufig (30–79 %) | In 1 Erkrankung |
| DNMT3ADNA methyltransferase 3 alpha | Häufig (30–79 %) | In 1 Erkrankung |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| DPF2double PHD fingers 2 | Häufig (30–79 %) | In 1 Erkrankung |
| DPYDdihydropyrimidine dehydrogenase | Häufig (30–79 %) | In 1 Erkrankung |
| EBF3EBF transcription factor 3 | Häufig (30–79 %) | In 2 Erkrankungen |
| FGF8fibroblast growth factor 8 | Häufig (30–79 %) | In 4 Erkrankungen |
| FGFR1fibroblast growth factor receptor 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| FGFR3fibroblast growth factor receptor 3 | Häufig (30–79 %) | In 2 Erkrankungen |
| FOXH1forkhead box H1 | Häufig (30–79 %) | In 4 Erkrankungen |
| GAS1growth arrest specific 1 | Häufig (30–79 %) | In 4 Erkrankungen |
| GATAD2BGATA zinc finger domain containing 2B | Häufig (30–79 %) | In 1 Erkrankung |
| GLI2GLI family zinc finger 2 | Häufig (30–79 %) | In 4 Erkrankungen |
| GLYCTKglycerate kinase | Häufig (30–79 %) | In 1 Erkrankung |
| GNAO1G protein subunit alpha o1 | Häufig (30–79 %) | In 1 Erkrankung |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Häufig (30–79 %) | In 1 Erkrankung |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Häufig (30–79 %) | In 1 Erkrankung |
| GRM7glutamate metabotropic receptor 7 | Häufig (30–79 %) | In 1 Erkrankung |
| GTPBP3GTP binding protein 3, mitochondrial | Häufig (30–79 %) | In 1 Erkrankung |
| ITCHitchy E3 ubiquitin protein ligase | Häufig (30–79 %) | In 1 Erkrankung |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Häufig (30–79 %) | In 1 Erkrankung |
| KDM6Alysine demethylase 6A | Häufig (30–79 %) | In 1 Erkrankung |
| KMT2Dlysine methyltransferase 2D | Häufig (30–79 %) | In 1 Erkrankung |
| LGI1leucine rich glioma inactivated 1 | Häufig (30–79 %) | In 1 Erkrankung |
| LRP5LDL receptor related protein 5 | Häufig (30–79 %) | In 1 Erkrankung |
| MAFMAF bZIP transcription factor | Häufig (30–79 %) | In 1 Erkrankung |
| MED12mediator complex subunit 12 | Häufig (30–79 %) | In 1 Erkrankung |
| MOGSmannosyl-oligosaccharide glucosidase | Häufig (30–79 %) | In 1 Erkrankung |
| MPDU1mannose-P-dolichol utilization defect 1 | Häufig (30–79 %) | In 1 Erkrankung |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Häufig (30–79 %) | In 2 Erkrankungen |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Häufig (30–79 %) | In 1 Erkrankung |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Häufig (30–79 %) | In 1 Erkrankung |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Häufig (30–79 %) | In 1 Erkrankung |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Häufig (30–79 %) | In 1 Erkrankung |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Häufig (30–79 %) | In 1 Erkrankung |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Häufig (30–79 %) | In 1 Erkrankung |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Häufig (30–79 %) | In 1 Erkrankung |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Häufig (30–79 %) | In 1 Erkrankung |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Häufig (30–79 %) | In 1 Erkrankung |
| MYT1Lmyelin transcription factor 1 like | Häufig (30–79 %) | In 1 Erkrankung |
| NAGSN-acetylglutamate synthase | Häufig (30–79 %) | In 1 Erkrankung |
| NEU1neuraminidase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| NEUROD2neuronal differentiation 2 | Häufig (30–79 %) | In 1 Erkrankung |
| NKX2-1NK2 homeobox 1 | Häufig (30–79 %) | In 1 Erkrankung |
| NODALnodal growth differentiation factor | Häufig (30–79 %) | In 4 Erkrankungen |
| NUP54nucleoporin 54 | Häufig (30–79 %) | In 1 Erkrankung |
| NUP62nucleoporin 62 | Häufig (30–79 %) | In 1 Erkrankung |
| OCA2OCA2 melanosomal transmembrane protein | Häufig (30–79 %) | In 1 Erkrankung |
| PACS1phosphofurin acidic cluster sorting protein 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PI4KAphosphatidylinositol 4-kinase alpha | Häufig (30–79 %) | In 1 Erkrankung |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Häufig (30–79 %) | In 1 Erkrankung |
| PLCH1phospholipase C eta 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PNKPpolynucleotide kinase 3'-phosphatase | Häufig (30–79 %) | In 1 Erkrankung |
| POGZpogo transposable element derived with ZNF domain | Häufig (30–79 %) | In 1 Erkrankung |
| PTCH1patched 1 | Häufig (30–79 %) | In 4 Erkrankungen |
| RAC1Rac family small GTPase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| RHOBTB2Rho related BTB domain containing 2 | Häufig (30–79 %) | In 1 Erkrankung |
| RPL10ribosomal protein L10 | Häufig (30–79 %) | In 1 Erkrankung |
| SATB2SATB homeobox 2 | Häufig (30–79 %) | In 1 Erkrankung |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| SHHsonic hedgehog signaling molecule | Häufig (30–79 %) | In 4 Erkrankungen |
| SIK1salt inducible kinase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| SIX3SIX homeobox 3 | Häufig (30–79 %) | In 4 Erkrankungen |
| SLC25A22solute carrier family 25 member 22 | Häufig (30–79 %) | In 1 Erkrankung |
| SLC32A1solute carrier family 32 member 1 | Häufig (30–79 %) | In 1 Erkrankung |
| SLC7A7solute carrier family 7 member 7 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Häufig (30–79 %) | In 1 Erkrankung |
| SMC1Astructural maintenance of chromosomes 1A | Häufig (30–79 %) | In 1 Erkrankung |
| SMSspermine synthase | Häufig (30–79 %) | In 1 Erkrankung |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Häufig (30–79 %) | In 1 Erkrankung |
| SONSON DNA and RNA binding protein | Häufig (30–79 %) | In 1 Erkrankung |
| SOX11SRY-box transcription factor 11 | Häufig (30–79 %) | In 1 Erkrankung |
| SOX4SRY-box transcription factor 4 | Häufig (30–79 %) | In 1 Erkrankung |
| SRD5A3steroid 5 alpha-reductase 3 | Häufig (30–79 %) | In 1 Erkrankung |
| SRPX2sushi repeat containing protein X-linked 2 | Häufig (30–79 %) | In 1 Erkrankung |
| STAG2STAG2 cohesin complex component | Häufig (30–79 %) | In 2 Erkrankungen |
| STILSTIL centriolar assembly protein | Häufig (30–79 %) | In 4 Erkrankungen |
| TBC1D24TBC1 domain family member 24 | Häufig (30–79 %) | In 1 Erkrankung |
| TBCDtubulin folding cofactor D | Häufig (30–79 %) | In 1 Erkrankung |
| TELO2telomere maintenance 2 | Häufig (30–79 %) | In 1 Erkrankung |
| TGIF1TGFB induced factor homeobox 1 | Häufig (30–79 %) | In 4 Erkrankungen |
| TNNT1troponin T1, slow skeletal type | Häufig (30–79 %) | In 1 Erkrankung |
| TRIM8tripartite motif containing 8 | Häufig (30–79 %) | In 1 Erkrankung |
| UBA1ubiquitin like modifier activating enzyme 1 | Häufig (30–79 %) | In 1 Erkrankung |
| UBE3Aubiquitin protein ligase E3A | Häufig (30–79 %) | In 4 Erkrankungen |
| USP9Xubiquitin specific peptidase 9 X-linked | Häufig (30–79 %) | In 1 Erkrankung |
| ZEB2zinc finger E-box binding homeobox 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| ZIC2Zic family zinc finger 2 | Häufig (30–79 %) | In 4 Erkrankungen |
| CDC42cell division cycle 42 | Manchmal (5–29 %) | In 1 Erkrankung |
| CLCN4Cl-/H+ antiporter 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| CLTCL1clathrin heavy chain like 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DLK1delta like non-canonical Notch ligand 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DOLKdolichol kinase | Manchmal (5–29 %) | In 1 Erkrankung |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GNB1G protein subunit beta 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| H19H19 imprinted maternally expressed transcript | Manchmal (5–29 %) | In 1 Erkrankung |
| H4C5H4 clustered histone 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| IGF2insulin like growth factor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| KIF15kinesin family member 15 | Manchmal (5–29 %) | In 1 Erkrankung |
| MEG3maternally expressed 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| MTRFRmitochondrial translation release factor in rescue | Manchmal (5–29 %) | In 1 Erkrankung |
| NEK1NIMA related kinase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| OPLAH5-oxoprolinase, ATP-hydrolysing | Manchmal (5–29 %) | In 1 Erkrankung |
| PCDH19protocadherin 19 | Manchmal (5–29 %) | In 1 Erkrankung |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Manchmal (5–29 %) | In 1 Erkrankung |
| PRDM5PR/SET domain 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| RTL1retrotransposon Gag like 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SARDHsarcosine dehydrogenase | Manchmal (5–29 %) | In 1 Erkrankung |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC19A3solute carrier family 19 member 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| TRAPPC11trafficking protein particle complex subunit 11 | Manchmal (5–29 %) | In 2 Erkrankungen |
| TUBB2Btubulin beta 2B class IIb | Manchmal (5–29 %) | In 1 Erkrankung |
| UBTFupstream binding transcription factor | Manchmal (5–29 %) | In 1 Erkrankung |
| WDR83OSWD repeat domain 83 opposite strand | Manchmal (5–29 %) | In 1 Erkrankung |
| ZNF469zinc finger protein 469 | Manchmal (5–29 %) | In 1 Erkrankung |
| ACADVLacyl-CoA dehydrogenase very long chain | Selten (1–4 %) | In 1 Erkrankung |
| BMP2bone morphogenetic protein 2 | Selten (1–4 %) | In 1 Erkrankung |
| ATRXATRX chromatin remodeler | Nicht erfasst | In 2 Erkrankungen |
| COL5A1collagen type V alpha 1 chain | Nicht erfasst | In 1 Erkrankung |
| GAMTguanidinoacetate N-methyltransferase | Nicht erfasst | In 1 Erkrankung |
| PEX13peroxisomal biogenesis factor 13 | Nicht erfasst | In 1 Erkrankung |
| SUOXsulfite oxidase | Nicht erfasst | In 1 Erkrankung |
| TRPS1transcriptional repressor GATA binding 1 | Nicht erfasst | In 1 Erkrankung |
Wie häufig dieses Merkmal bei Menschen mit einer der Erkrankungen auftritt, die mit dem Gen in Verbindung stehen, und zwar der höchste Wert unter ihnen, so wie ihn die Human Phenotype Ontology erfasst. Diese Seiten beschreiben Merkmale und die dazugehörige Forschung; sie stellen keine Diagnose dar. Fragen zu Symptomen richten Sie bitte an Ihre Ärztin, Ihren Arzt oder eine genetische Beratung.
Übergeordnete Merkmale
Woher diese Angaben stammen
- Die Human Phenotype Ontology, Version 2026-09-01: das Merkmal, seine Bezeichnungen, seine Definition und die damit verknüpften Gene. Weitere Informationen finden Sie unter hpo.jax.org.
- Datenstand 2026.10.19-9814e911.
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