OSTEOARTHRITIS SUSCEPTIBILITY 2
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HAND OSTEOARTHRITIS OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS HOA HEBERDEN NODES, INCLUDED OADIP OS2 DIPOA |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
140600
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0012313) | Heberden's node | 2 / 7739 | ||||
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(HPO:0002758) | Osteoarthritis | 78 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints (Stefansson et al., 2003). Patients with osteoarthritis may have 1, a few, or all of these sites ... |
| Molecular genetics OMIM |
In 76 patients with hand osteoarthritis and 18 control individuals, Stefansson et al. (2003) screened the genomic sequence of the MATN3 gene and found a thr303-to-met mutation in MATN3 (T303M; 602109.0003), which had a frequency of slightly more ... |