Reference genomeGRCh38hg38
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Read the genes linked to Multiple joint contractures, and the rest of your genome, with one test.
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Get my Genome Test76 genes linked to Multiple joint contractures
Changes in these genes cause rare conditions in which Multiple joint contractures is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| BICD2BICD cargo adaptor 2 | Always | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| KYkyphoscoliosis peptidase | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Very often (80–99%) | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Very often (80–99%) | In 1 condition |
| DOK7docking protein 7 | Very often (80–99%) | In 1 condition |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Very often (80–99%) | In 1 condition |
| GLDNgliomedin | Very often (80–99%) | In 1 condition |
| GPKOWG-patch domain and KOW motifs | Very often (80–99%) | In 1 condition |
| KIF21Akinesin family member 21A | Very often (80–99%) | In 1 condition |
| KLC2kinesin light chain 2 | Very often (80–99%) | In 1 condition |
| LMNAlamin A/C | Very often (80–99%) | In 1 condition |
| MAGEL2MAGE family member L2 | Very often (80–99%) | In 1 condition |
| MUSKmuscle associated receptor tyrosine kinase | Very often (80–99%) | In 1 condition |
| MYOD1myogenic differentiation 1 | Very often (80–99%) | In 1 condition |
| NUP88nucleoporin 88 | Very often (80–99%) | In 1 condition |
| RAPSNreceptor associated protein of the synapse | Very often (80–99%) | In 1 condition |
| SLC18A3solute carrier family 18 member A3 | Very often (80–99%) | In 1 condition |
| TUBA1Atubulin alpha 1a | Very often (80–99%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Very often (80–99%) | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Often (30–79%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Often (30–79%) | In 2 conditions |
| COL6A1collagen type VI alpha 1 chain | Often (30–79%) | In 1 condition |
| COL6A2collagen type VI alpha 2 chain | Often (30–79%) | In 1 condition |
| COL6A3collagen type VI alpha 3 chain | Often (30–79%) | In 1 condition |
| DNA2DNA replication helicase/nuclease 2 | Often (30–79%) | In 1 condition |
| EXOSC9exosome component 9 | Often (30–79%) | In 1 condition |
| FKRPfukutin related protein | Often (30–79%) | In 1 condition |
| GMPPBGDP-mannose pyrophosphorylase B | Often (30–79%) | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Often (30–79%) | In 1 condition |
| MYH7myosin heavy chain 7 | Often (30–79%) | In 1 condition |
| MYOTmyotilin | Often (30–79%) | In 1 condition |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Often (30–79%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Often (30–79%) | In 1 condition |
| RBM28RNA binding motif protein 28 | Often (30–79%) | In 1 condition |
| RFC1replication factor C subunit 1 | Often (30–79%) | In 1 condition |
| RTTNrotatin | Often (30–79%) | In 1 condition |
| RYR1ryanodine receptor 1 | Often (30–79%) | In 2 conditions |
Show 36 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SELENONselenoprotein N | Often (30–79%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Often (30–79%) | In 1 condition |
| TTNtitin | Often (30–79%) | In 1 condition |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Often (30–79%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| ADARadenosine deaminase RNA specific | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| DBR1debranching RNA lariats 1 | Sometimes (5–29%) | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Sometimes (5–29%) | In 1 condition |
| GTF2E2general transcription factor IIE subunit 2 | Sometimes (5–29%) | In 1 condition |
| GTF2H5general transcription factor IIH subunit 5 | Sometimes (5–29%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Sometimes (5–29%) | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Sometimes (5–29%) | In 1 condition |
| LSM11LSM11, U7 small nuclear RNA associated | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Sometimes (5–29%) | In 1 condition |
| PMM2phosphomannomutase 2 | Sometimes (5–29%) | In 1 condition |
| RNASEH2Aribonuclease H2 subunit A | Sometimes (5–29%) | In 1 condition |
| RNASEH2Bribonuclease H2 subunit B | Sometimes (5–29%) | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Sometimes (5–29%) | In 1 condition |
| RNF113Aring finger protein 113A | Sometimes (5–29%) | In 1 condition |
| RNU7-1RNA, U7 small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Sometimes (5–29%) | In 1 condition |
| SLC1A4solute carrier family 1 member 4 | Sometimes (5–29%) | In 1 condition |
| TARS1threonyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| TGM1transglutaminase 1 | Sometimes (5–29%) | In 1 condition |
| TREX1three prime repair exonuclease 1 | Sometimes (5–29%) | In 1 condition |
| TRIP4thyroid hormone receptor interactor 4 | Sometimes (5–29%) | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| MED12mediator complex subunit 12 | Not recorded | In 1 condition |
| MYBPC1myosin binding protein C1 | Not recorded | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Not recorded | In 1 condition |
| PIP5K1Cphosphatidylinositol-4-phosphate 5-kinase type 1 gamma | Not recorded | In 1 condition |
| UBA1ubiquitin like modifier activating enzyme 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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