Details of Disease

General Information of Disease (ID: DIS99VM0)

Disease Name LAMA2-related muscular dystrophy
Synonyms LAMA2-related muscular dystrophy
Definition Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene.
Disease Hierarchy
DIS4550J: Muscle wasting disease
DIS99VM0: LAMA2-related muscular dystrophy
Disease Identifiers
MONDO ID
MONDO_0100228
UMLS CUI
C5679788
MedGen ID
1826054

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
LAMA2 OTFROQWE 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.