Details of Disease | DrugMAP

General Information of Disease (ID: DISMMHPT)

Disease Name	Muscular dystrophy, limb-girdle, autosomal dominant
Synonyms	muscular dystrophy, limb-girdle, autosomal dominant; limb-girdle muscular dystrophy, autosomal dominant; autosomal dominant limb-girdle muscular dystrophy
Definition	Autosomal dominant form of limb-girdle muscular dystrophy.
Disease Hierarchy	DISI9Y1Z: Limb-girdle muscular dystrophy DIS3HIWD: Autosomal dominant disease DISMMHPT: Muscular dystrophy, limb-girdle, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0015151 UMLS CUI C5675009 MedGen ID 1826162 Orphanet ID 102014

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CAPN3	OTCHG3YK	Limited	Autosomal dominant	[1]
HNRNPDL	OTB3BFCV	Moderate	Autosomal dominant	[1]
DNAJB6	OTMHIIAN	Definitive	Autosomal dominant	[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.