Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr: 93279
OMIM Id: 604864
ICD-10: Q77.7
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Type 2 collagen-related bone disorder
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001379) Degenerative joint disease 8 / 7739
2
 (HPO:0012313) Heberden's node 2 / 7739
3
 (HPO:0001387) Joint stiffness 322 / 7739
4
 (HPO:0002758) Osteoarthritis 78 / 7739
5
 (HPO:0000926) Platyspondyly 150 / 7739
6
 (HPO:0005086) Knee osteoarthritis 4 / 7739
7
 (HPO:0008843) Hip osteoarthritis 12 / 7739
8
 (HPO:0003301) Irregular vertebral endplates 25 / 7739
9
 (HPO:0004568) Beaking of vertebral bodies 19 / 7739
10
 (HPO:0004322) Short stature 1232 / 7739
11
 (OMIM) Enlarged MCP joints 1 / 7739
12
 (OMIM) Decreased height compared to unaffected siblings 1 / 7739
13
 (HPO:0030041) Schmorl's node 2 / 7739
14
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
 (OMIM) Enlarged PIP and DIP joints 1 / 7739
16
 (OMIM) Schmorl nodes 3 / 7739
17
 (OMIM) Mild platyspondyly 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In a kindred described by Knowlton et al. (1990) with dominantly inherited generalized osteoarthritis associated with a mild chondrodysplasia, Ala-Kokko et al. (1990) identified an arg519-to-cys mutation of the type II collagen gene (120140.0003).