Details of Disease

General Information of Disease (ID: DISREAME)

Disease Name Omodysplasia
Definition
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DISREAME: Omodysplasia
Disease Identifiers
MONDO ID
MONDO_0017136
UMLS CUI
C4510897
MedGen ID
1388973
Orphanet ID
2733
SNOMED CT ID
725164008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FZD2 OT952ML1 Limited Genetic Variation [1]
GPC6 OTNJBESF Strong Genetic Variation [2]
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References

1 Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes.Am J Med Genet A. 2018 Mar;176(3):739-742. doi: 10.1002/ajmg.a.38623. Epub 2018 Jan 31.
2 Boning up on glypicans--opportunities for new insights into bone biology.Cell Biochem Funct. 2013 Mar;31(2):91-114. doi: 10.1002/cbf.2939. Epub 2013 Jan 7.