Details of Disease

General Information of Disease (ID: DISPOUCA)

Disease Name Spondyloepiphyseal dysplasia with metatarsal shortening
Synonyms
pseudorheumatoid dysplasia progressive, with hypoplastic toes; Czech dysplasia, metatarsal type; spondyloepiphyseal dysplasia with precocious osteoarthritis; pseudorheumatoid dysplasia, progressive, with hypoplastic toes; Czech dysplasia metatarsal type; Czech dysplasia; SED with metatarsal shortening
Definition
A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.
Disease Hierarchy
DIS8WIDY: Type 2 collagenopathy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISPOUCA: Spondyloepiphyseal dysplasia with metatarsal shortening
Disease Identifiers
MONDO ID
MONDO_0012206
MESH ID
C535766
UMLS CUI
C1836683
OMIM ID
609162
MedGen ID
324580
Orphanet ID
137678
SNOMED CT ID
720826006

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 Definitive Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.