Details of Disease

General Information of Disease (ID: DIS70JW1)

Disease Name Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Synonyms
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; MDDGA12; Walker-Warburg syndrome or muscle-eye-brain disease, POMK-related; muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; POMK muscular dystrophy-dystroglycanopathy, type A
Definition Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the POMK gene.
Disease Hierarchy
DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
DIS70JW1: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
Disease Identifiers
MONDO ID
MONDO_0014101
UMLS CUI
C3808964
OMIM ID
615249
MedGen ID
815294

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
POMK OT36HLDO Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.