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Trait

Distal arthrogryposis

An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.

HPO HP:0005684

Summary

Body system
Abnormality of the musculoskeletal system

29 genes linked to Distal arthrogryposis

Changes in these genes cause rare conditions in which Distal arthrogryposis 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
ADCY6adenylate cyclase 6AlwaysIn 1 condition
ALPK3alpha kinase 3AlwaysIn 1 condition
CHASERRCHD2 adjacent suppressive regulatory RNAAlwaysIn 1 condition
CHST14carbohydrate sulfotransferase 14AlwaysIn 1 condition
CNTNAP1contactin associated protein 1AlwaysIn 1 condition
DSTdystoninAlwaysIn 1 condition
MYBPC1myosin binding protein C1AlwaysIn 2 conditions
MYO9Amyosin IXAAlwaysIn 1 condition
MYOD1myogenic differentiation 1AlwaysIn 1 condition
PIEZO2piezo type mechanosensitive ion channel component 2AlwaysIn 2 conditions
REEP1receptor accessory protein 1AlwaysIn 1 condition
DHCR2424-dehydrocholesterol reductaseVery often (80–99%)In 1 condition
ADGRG1adhesion G protein-coupled receptor G1Often (30–79%)In 1 condition
COQ4coenzyme Q4Often (30–79%)In 1 condition
PI4KAphosphatidylinositol 4-kinase alphaOften (30–79%)In 1 condition
SRPX2sushi repeat containing protein X-linked 2Often (30–79%)In 1 condition
ACADMacyl-CoA dehydrogenase medium chainSometimes (5–29%)In 1 condition
GLDNgliomedinSometimes (5–29%)In 1 condition
LGI4leucine rich repeat LGI family member 4Sometimes (5–29%)In 1 condition
LZTR1leucine zipper like post translational regulator 1Sometimes (5–29%)In 1 condition
NRCAMneuronal cell adhesion moleculeSometimes (5–29%)In 1 condition
YY1YY1 transcription factorSometimes (5–29%)In 2 conditions
GLI3GLI family zinc finger 3Rarely (1–4%)In 1 condition
ATAD1ATPase family AAA domain containing 1Not recordedIn 1 condition
CCDC47coiled-coil domain containing 47Not recordedIn 1 condition
FBN2fibrillin 2Not recordedIn 1 condition
FIG4FIG4 phosphoinositide 5-phosphataseNot recordedIn 1 condition
MYH8myosin heavy chain 8Not recordedIn 2 conditions
TNNI2troponin I2, fast skeletal typeNot 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

Congenital 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 2026.10.16-c6eea6bf.

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