Details of Disease

General Information of Disease (ID: DISH7DO5)

Disease Name Muscular dystrophy-dystroglycanopathy type B5
Synonyms
muscular dystrophy, congenital, 1C; muscular dystrophy, congenital, FKRP-related; congenital muscular dystrophy-FKRP related; MDC1C; muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5; congenital muscular dystrophy 1C; MDDGB5; FKRP-related congenital muscular dystrophy; muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Definition
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.
Disease Hierarchy
DISO11D5: Muscular dystrophy-dystroglycanopathy, type B
DISZKUF8: Myopathy caused by variation in FKRP
DISH7DO5: Muscular dystrophy-dystroglycanopathy type B5
Disease Identifiers
MONDO ID
MONDO_0011688
UMLS CUI
C1847759
OMIM ID
606612
MedGen ID
335764
Orphanet ID
52428

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 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.