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Trait

Acetabular dysplasia

A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.

HPO HP:0008807

Summary

Also called
Dysplastic acetabulae
Body system
Abnormality of limbsAbnormality of the musculoskeletal system

26 genes linked to Acetabular dysplasia

Changes in these genes cause rare conditions in which Acetabular dysplasia 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
AP3B1adaptor related protein complex 3 subunit beta 1AlwaysIn 1 condition
DONSONDNA replication fork stabilization factor DONSONAlwaysIn 1 condition
SLC35A3solute carrier family 35 member A3AlwaysIn 1 condition
TIMM22translocase of inner mitochondrial membrane 22AlwaysIn 1 condition
B3GALT6beta-1,3-galactosyltransferase 6Very often (80–99%)In 1 condition
CHRNGcholinergic receptor nicotinic gamma subunitOften (30–79%)In 1 condition
EXTL3exostosin like glycosyltransferase 3Often (30–79%)In 1 condition
GUSBglucuronidase betaOften (30–79%)In 1 condition
POLR1ARNA polymerase I subunit AOften (30–79%)In 1 condition
RPS15Aribosomal protein S15aOften (30–79%)In 1 condition
SLC26A2solute carrier family 26 member 2Often (30–79%)In 1 condition
COL25A1collagen type XXV alpha 1 chainSometimes (5–29%)In 1 condition
COMPcartilage oligomeric matrix proteinSometimes (5–29%)In 1 condition
EIF4A3eukaryotic translation initiation factor 4A3Sometimes (5–29%)In 1 condition
ERGIC1endoplasmic reticulum-golgi intermediate compartment 1Sometimes (5–29%)In 1 condition
GLB1galactosidase beta 1Sometimes (5–29%)In 1 condition
NRCAMneuronal cell adhesion moleculeSometimes (5–29%)In 1 condition
SCYL2SCY1 like pseudokinase 2Sometimes (5–29%)In 1 condition
AP4B1adaptor related protein complex 4 subunit beta 1Rarely (1–4%)In 2 conditions
AP4E1adaptor related protein complex 4 subunit epsilon 1Rarely (1–4%)In 1 condition
AP4M1adaptor related protein complex 4 subunit mu 1Rarely (1–4%)In 1 condition
AP4S1adaptor related protein complex 4 subunit sigma 1Rarely (1–4%)In 1 condition
CTCFCCCTC-binding factorRarely (1–4%)In 1 condition
MYO18Bmyosin XVIIIBNot recordedIn 1 condition
PIGBphosphatidylinositol glycan anchor biosynthesis class BNot recordedIn 1 condition
VPS33AVPS33A core subunit of CORVET and HOPS complexesNot 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.

Broader traits

Abnormality of the hipbone socket

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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