OSTEOARTHRITIS SUSCEPTIBILITY 3

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEOARTHRITIS OF KNEE/HIP
OS3
Number of Symptoms 8
OrphanetNr:
OMIM Id: 607850
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0006233) Osteoarthritis of the distal interphalangeal joint 1 / 7739
2
(HPO:0006226) Osteoarthritis of the first carpometacarpal joint 1 / 7739
3
(HPO:0001387) Joint stiffness 322 / 7739
4
(HPO:0002829) Arthralgia 79 / 7739
5
(OMIM) Osteophytes of the DIP (Heberden nodes) 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Disorganization of articular cartilage 1 / 7739
8
(OMIM) Decreased volume of articular cartilage 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Kizawa et al. (2005) found a significant association between osteoarthritis of the knee and hip and a polymorphism in the aspartic acid repeat in the N-terminal region of the ASPN protein (608135.0001). The aspartic acid repeat polymorphism inhibits ...