Details of Disease

General Information of Disease (ID: DISVQ08J)

Disease Name Multiple epiphyseal dysplasia, Beighton type
Synonyms epiphyseal dysplasia, multiple, with myopia and conductive deafness; EDMMD; epiphyseal dysplasia, multiple, with myopia and deafness; multiple epiphyseal dysplasia-myopia-deafness syndrome
Definition
Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.
Disease Hierarchy
DIS8WIDY: Type 2 collagenopathy
DIS5FZLR: Multiple epiphyseal dysplasia
DISVQ08J: Multiple epiphyseal dysplasia, Beighton type
Disease Identifiers
MONDO ID
MONDO_0007562
MESH ID
C565046
UMLS CUI
C1851536
OMIM ID
132450
MedGen ID
377049
Orphanet ID
166011

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 Supportive Autosomal dominant [1]
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References

1 Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene. Am J Med Genet. 1998 Oct 30;80(1):6-11. doi: 10.1002/(sici)1096-8628(19981102)80:1<6::aid-ajmg2>3.0.co;2-0.