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Trait

Limb contractures

Clinical name: 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.

HPO HP:0003121

Summary

Body system
Abnormality of the musculoskeletal system

36 genes linked to Limb contractures

Changes in these genes cause rare conditions in which Limb 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.

GeneHow often it is seenConditions
CAMLGcalcium modulating ligandAlwaysIn 1 condition
ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1AlwaysIn 1 condition
GRIN1glutamate ionotropic receptor NMDA type subunit 1AlwaysIn 1 condition
MED11mediator complex subunit 11AlwaysIn 1 condition
PIGAphosphatidylinositol glycan anchor biosynthesis class AAlwaysIn 1 condition
ZMPSTE24zinc metallopeptidase STE24AlwaysIn 1 condition
ERLIN2ER lipid raft associated 2Very often (80–99%)In 1 condition
RBM28RNA binding motif protein 28Very often (80–99%)In 1 condition
ABCA12ATP binding cassette subfamily A member 12Often (30–79%)In 1 condition
ALOX12Barachidonate 12-lipoxygenase, 12R typeOften (30–79%)In 1 condition
ALOXE3arachidonate epidermal lipoxygenase 3Often (30–79%)In 1 condition
ALS2alsin Rho guanine nucleotide exchange factor ALS2Often (30–79%)In 1 condition
ASPRV1aspartic peptidase retroviral like 1Often (30–79%)In 1 condition
CYP4F22cytochrome P450 family 4 subfamily F member 22Often (30–79%)In 1 condition
LIPNlipase family member NOften (30–79%)In 1 condition
NIPAL4NIPA like domain containing 4Often (30–79%)In 1 condition
OTUD6BOTU deubiquitinase 6BOften (30–79%)In 1 condition
SCN4Asodium voltage-gated channel alpha subunit 4Often (30–79%)In 1 condition
SDR9C7short chain dehydrogenase/reductase family 9C member 7Often (30–79%)In 1 condition
SLC39A14solute carrier family 39 member 14Often (30–79%)In 1 condition
SNUPNsnurportin 1Often (30–79%)In 1 condition
SULT2B1sulfotransferase family 2B member 1Often (30–79%)In 1 condition
TGM1transglutaminase 1Often (30–79%)In 1 condition
F8coagulation factor VIIISometimes (5–29%)In 1 condition
HEXBhexosaminidase subunit betaSometimes (5–29%)In 1 condition
MECRmitochondrial trans-2-enoyl-CoA reductaseSometimes (5–29%)In 1 condition
NGLY1N-glycanase 1Sometimes (5–29%)In 1 condition
PSAT1phosphoserine aminotransferase 1Sometimes (5–29%)In 1 condition
SLC35A2solute carrier family 35 member A2Sometimes (5–29%)In 1 condition
TRPV4transient receptor potential cation channel subfamily V member 4Sometimes (5–29%)In 1 condition
COL17A1collagen type XVII alpha 1 chainRarely (1–4%)In 1 condition
ITGB4integrin subunit beta 4Rarely (1–4%)In 1 condition
ARXaristaless related homeoboxNot recordedIn 1 condition
CNTNAP1contactin associated protein 1Not recordedIn 1 condition
SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthaseNot recordedIn 1 condition
TPM3tropomyosin 3Not recordedIn 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.

Narrower traits

Broader traits

Joint contracture

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 2026.10.17-8666dff2.

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