mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Findings
No curated finding names mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.
Definition from the Mondo Disease Ontology (MONDO:0011496), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArthralgiaHPOHP:0002829
- 10 of 10 reported patients
- Beaking of vertebral bodiesHPOHP:0004568
- 10 of 10 reported patients
- Heberden nodeHPOHP:0012313
- 10 of 10 reported patients
- Hip osteoarthritisHPOHP:0008843
- 10 of 10 reported patients
- Irregular vertebral endplatesHPOHP:0003301
- 10 of 10 reported patients
- Joint stiffnessHPOHP:0001387
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL2A1HGNC:2200
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021