Details of Disease

General Information of Disease (ID: DIS9T7C6)

Disease Name Ullrich congenital muscular dystrophy 2
Synonyms
UCMD2; Ullrich congenital muscular dystrophy type 2; Ullrich congenital muscular dystrophy 2; COL12A1 Ullrich congenital muscular dystrophy; Ullrich congenital muscular dystrophy caused by mutation in COL12A1
Definition Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene.
Disease Hierarchy
DISJWD0V: Ullrich congenital muscular dystrophy
DIS9T7C6: Ullrich congenital muscular dystrophy 2
Disease Identifiers
MONDO ID
MONDO_0014654
UMLS CUI
C4225314
OMIM ID
616470
MedGen ID
899150

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
COL12A1 OTHLTV53 Strong Autosomal recessive [1]
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References

1 Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum Mol Genet. 2014 May 1;23(9):2339-52. doi: 10.1093/hmg/ddt627. Epub 2013 Dec 11.