Details of Disease

General Information of Disease (ID: DISLXI1U)

Disease Name Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Synonyms MDDGA5; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related; muscle-eye-brain-FKRP related
Disease Hierarchy
DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
DISRZVV9: Qualitative or quantitative defects of FKRP
DISJUOQB: Muscle-eye-brain disease
DISZKUF8: Myopathy caused by variation in FKRP
DISLXI1U: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Disease Identifiers
MONDO ID
MONDO_0013157
UMLS CUI
C3150413
OMIM ID
613153
MedGen ID
461763

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
FKRP OTMUZ7GH Definitive Autosomal recessive [1]
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References

1 Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?. Neuropediatrics. 2000 Aug;31(4):186-9. doi: 10.1055/s-2000-7460.