AtlasKenmerk
Limb contractures
Klinische naam: Limb joint contracture
A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs.
Samenvatting
- Lichaamssysteem
- Abnormality of the musculoskeletal system
AtlasDeze pagina als gegevens
Voeg .json toe aan het adres van de pagina, of vraag application/json aan, om haar als JSON te lezen.
library(jsonlite)
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page$trait$nameLees de genen die aan Limb contractures gekoppeld zijn, en de rest van uw genoom, met één test.
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Mijn Genome Test bestellen34 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.
- Inherited IchthyosesReads 9 of these genesABCA12ALOX12BALOXE3CYP4F22LIPNNIPAL4About this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- Restrictive Dermopathy (ZMPSTE24)Reads 1 of these genesZMPSTE24About this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
Show 30 more reports
- TRPV4-Related Skeletal DysplasiasReads 1 of these genesTRPV4About this report →
- Hereditary Manganese Transporter DisordersReads 1 of these genesSLC39A14About this report →
- Sandhoff Disease and GM2 Activator DeficiencyReads 1 of these genesHEXBAbout this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- HaemophiliaReads 1 of these genesF8About this report →
- Epidermolysis BullosaReads 2 of these genesCOL17A1ITGB4About this report →
- Lissencephaly Spectrum DisordersReads 2 of these genesPSAT1ARXAbout this report →
- Epilepsy (Full Panel)Reads 5 of these genesGRIN1PIGAOTUD6BSLC35A2ARXAbout this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesPSAT1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesSCN4AMECRAbout this report →
- Inherited Neurodegenerative DisordersReads 6 of these genesMED11ERLIN2ALS2HEXBMECRSEPSECSAbout this report →
- LipodystrophyReads 1 of these genesZMPSTE24About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesCOL17A1About this report →
- Congenital MyopathiesReads 1 of these genesTPM3About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesSEPSECSAbout this report →
- Congenital Disorders of GlycosylationReads 2 of these genesPIGASLC35A2About this report →
- Rare Hereditary Peripheral NeuropathiesReads 3 of these genesHEXBMECRTRPV4About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 1 of these genesRBM28About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesSCN4AAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesSEPSECSAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesALS2About this report →
- Congenital Muscular DystrophiesReads 1 of these genesSNUPNAbout this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesSNUPNAbout this report →
- Hypogonadotropic HypogonadismReads 1 of these genesRBM28About this report →
- Intellectual DisabilityReads 2 of these genesGRIN1OTUD6BAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesHEXBAbout this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesERLIN2About this report →
- Leigh SyndromeReads 1 of these genesMECRAbout this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesTRPV4About this report →
Lees de genen die aan Limb contractures gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen36 genen gekoppeld aan Limb contractures
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Limb contractures 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 |
|---|---|---|
| CAMLGcalcium modulating ligand | Altijd | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altijd | In 1 aandoening |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Altijd | In 1 aandoening |
| MED11mediator complex subunit 11 | Altijd | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altijd | In 1 aandoening |
| ZMPSTE24zinc metallopeptidase STE24 | Altijd | In 1 aandoening |
| ERLIN2ER lipid raft associated 2 | Heel vaak (80–99%) | In 1 aandoening |
| RBM28RNA binding motif protein 28 | Heel vaak (80–99%) | In 1 aandoening |
| ABCA12ATP binding cassette subfamily A member 12 | Vaak (30–79%) | In 1 aandoening |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Vaak (30–79%) | In 1 aandoening |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Vaak (30–79%) | In 1 aandoening |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Vaak (30–79%) | In 1 aandoening |
| ASPRV1aspartic peptidase retroviral like 1 | Vaak (30–79%) | In 1 aandoening |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Vaak (30–79%) | In 1 aandoening |
| LIPNlipase family member N | Vaak (30–79%) | In 1 aandoening |
| NIPAL4NIPA like domain containing 4 | Vaak (30–79%) | In 1 aandoening |
| OTUD6BOTU deubiquitinase 6B | Vaak (30–79%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Vaak (30–79%) | In 1 aandoening |
| SDR9C7short chain dehydrogenase/reductase family 9C member 7 | Vaak (30–79%) | In 1 aandoening |
| SLC39A14solute carrier family 39 member 14 | Vaak (30–79%) | In 1 aandoening |
| SNUPNsnurportin 1 | Vaak (30–79%) | In 1 aandoening |
| SULT2B1sulfotransferase family 2B member 1 | Vaak (30–79%) | In 1 aandoening |
| TGM1transglutaminase 1 | Vaak (30–79%) | In 1 aandoening |
| F8coagulation factor VIII | Soms (5–29%) | In 1 aandoening |
| HEXBhexosaminidase subunit beta | Soms (5–29%) | In 1 aandoening |
| MECRmitochondrial trans-2-enoyl-CoA reductase | Soms (5–29%) | In 1 aandoening |
| NGLY1N-glycanase 1 | Soms (5–29%) | In 1 aandoening |
| PSAT1phosphoserine aminotransferase 1 | Soms (5–29%) | In 1 aandoening |
| SLC35A2solute carrier family 35 member A2 | Soms (5–29%) | In 1 aandoening |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Soms (5–29%) | In 1 aandoening |
| COL17A1collagen type XVII alpha 1 chain | Zelden (1–4%) | In 1 aandoening |
| ITGB4integrin subunit beta 4 | Zelden (1–4%) | In 1 aandoening |
| ARXaristaless related homeobox | Niet vastgelegd | In 1 aandoening |
| CNTNAP1contactin associated protein 1 | Niet vastgelegd | In 1 aandoening |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Niet vastgelegd | In 1 aandoening |
| TPM3tropomyosin 3 | 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.
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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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