Osteoarthritis Susceptibility 1; Os1

Description

Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to OsteoarthritisSusceptibility to osteoarthritis has been associated with variation in other genes: OS2 (OMIM ) with variation in the MATN3 gene (OMIM ) on chromosome 2p24; OS3 (OMIM ) with variation in the ASPN gene (OMIM ) on chromosome 9q22; and OS5 (OMIM ) with variation in the GDF5 gene (OMIM ) on chromosome 20q11.Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4 ) and 3p24 (OS6 ).

Clinical Features

Phenotypes and symptoms related to Osteoarthritis Susceptibility 1; Os1

  • Pain
  • Joint stiffness
  • Osteoarthritis
  • Abnormality of pelvic girdle bone morphology
  • Hip osteoarthritis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Osteoarthritis Susceptibility 1; Os1 Is also known as oa, osteoarthrosis, osteoarthritis of hip, female-specific, susceptibility to.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Osteoarthritis Susceptibility 1; Os1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FRZB.

By Fulgent Genetics Fulgent Genetics (United States).

FRZB
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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