Details of Disease

General Information of Disease (ID: DISDEM11)

Disease Name Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Synonyms OSCDP; osteoarthritis with mild chondrodysplasia; Namaqualand hip dysplasia
Definition
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.
Disease Hierarchy
DIS8WIDY: Type 2 collagenopathy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISDEM11: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Disease Identifiers
MONDO ID
MONDO_0011496
MESH ID
C565740
UMLS CUI
C0432214
OMIM ID
604864
MedGen ID
609409
Orphanet ID
93279
SNOMED CT ID
254064009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL2A1 OT5E59C8 Strong Autosomal dominant [1]
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References

1 Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1). Mol Genet Metab. 2001 Nov;74(3):338-41. doi: 10.1006/mgme.2001.3250.