|
OSCDP
MCID: OST062
MIFTS: 30
|
Osteoarthritis with Mild Chondrodysplasia (OSCDP)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Osteoarthritis with Mild Chondrodysplasia:
Characteristics:Orphanet epidemiological data:59
mild spondyloepiphyseal dysplasia due to col2a1 mutation with early-onset osteoarthritis
Inheritance: Autosomal dominant; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset of osteoarthritis in teens to early adulthood HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases
ICD10:
34
|
|
UniProtKB/Swiss-Prot
:
75
Osteoarthritis with mild chondrodysplasia: Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage.
MalaCards based summary : Osteoarthritis with Mild Chondrodysplasia, also known as namaqualand hip dysplasia, is related to polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy and epiphyseal dysplasia, multiple, with myopia and conductive deafness, and has symptoms including tremor, angina pectoris and back pain. An important gene associated with Osteoarthritis with Mild Chondrodysplasia is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are joint stiffness and beaking of vertebral bodies
Description from OMIM:
604864
|
Diseases related to Osteoarthritis with Mild Chondrodysplasia via text searches within MalaCards or GeneCards Suite gene sharing:
Comorbidity relations with Osteoarthritis with Mild Chondrodysplasia via Phenotypic Disease Network (PDN):
Graphical network of the top 20 diseases related to Osteoarthritis with Mild Chondrodysplasia:
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:604864Human phenotypes related to Osteoarthritis with Mild Chondrodysplasia:32 (show all 9)
UMLS symptoms related to Osteoarthritis with Mild Chondrodysplasia:tremor, angina pectoris, back pain, sciatica, equilibration disorder, muscle cramp |
|
Inferred drug relations via UMLS 73 / NDF-RT 51 : |
MalaCards organs/tissues related to Osteoarthritis with Mild Chondrodysplasia:41
Bone
|
Genes related to Osteoarthritis with Mild Chondrodysplasia (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Osteoarthritis with Mild Chondrodysplasia:75
ClinVar genetic disease variations for Osteoarthritis with Mild Chondrodysplasia:6
|
|
Search
GEO
for disease gene expression data for Osteoarthritis with Mild Chondrodysplasia.
|
|
|
|