Details of Disease | DrugMAP

General Information of Disease (ID: DIS5DALU)

Disease Name	Autosomal dominant limb-girdle muscular dystrophy type 1G
Synonyms	limb-girdle muscular dystrophy, type 1G; limb-girdle muscular dystrophy type 1G; muscular dystrophy, limb-girdle, autosomal dominant 3; HNRNPDL autosomal dominant limb-girdle muscular dystrophy; autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL; muscular dystrophy limb-girdle type 1G; LGMD1G
Definition	Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed.
Disease Hierarchy	DISMMHPT: Muscular dystrophy, limb-girdle, autosomal dominant DIS5DALU: Autosomal dominant limb-girdle muscular dystrophy type 1G
Disease Identifiers	MONDO ID MONDO_0012193 MESH ID C563794 UMLS CUI C1836765 OMIM ID 609115 MedGen ID 322993 Orphanet ID 55596 SNOMED CT ID 719990003

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
HNRNPDL	OTB3BFCV	Strong	Autosomal dominant	[1]
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References

1	A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet. 2014 Aug 1;23(15):4103-10. doi: 10.1093/hmg/ddu127. Epub 2014 Mar 18.