Details of Disease | DrugMAP

General Information of Disease (ID: DISSYZJ0)

Disease Name	Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Synonyms	muscular dystrophy, limb-girdle, type 1D; LGMD1E (Bushby and Beckmann, 2003); limb-girdle muscular dystrophy type 1D; muscular dystrophy limb-girdle type 1E; muscular dystrophy, limb-girdle, type 1E; autosomal dominant limb-girdle muscular dystrophy type 1D; LGMD1E; autosomal dominant limb-girdle muscular dystrophy type 1E; muscular dystrophy limb-girdle type 1D; muscular dystrophy, limb-girdle, type 1D, formerly; LGMD1D (DNAJB6); muscular dystrophy, limb-girdle, autosomal dominant 1; LGMD1D; DNAJB6 autosomal dominant limb-girdle muscular dystrophy; autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6
Definition	Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3.\|Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3
Disease Hierarchy	DISMMHPT: Muscular dystrophy, limb-girdle, autosomal dominant DISSYZJ0: Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Disease Identifiers	MONDO ID MONDO_0021018 UMLS CUI C4721885 OMIM ID 603511 MedGen ID 1648441 Orphanet ID 34516

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
DNAJB6	OTMHIIAN	Strong	Autosomal dominant	[1]
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References

1	Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet. 2012 Feb 26;44(4):450-5, S1-2. doi: 10.1038/ng.1103.