Details of Disease

General Information of Disease (ID: DIS63XZV)

Disease Name Autosomal recessive limb-girdle muscular dystrophy type 2U
Synonyms
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7; muscular dystrophy, limb-girdle, type 2U; ISPD autosomal recessive limb-girdle muscular dystrophy; LGMD2U; MDDGC7; autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD; muscular dystrophy limb-girdle type 2U; muscular dystrophy-dystroglycanopathy (limb-girdle) type C7; autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
Definition Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.
Disease Hierarchy
DISX6ABY: Myopathy caused by variation in CRPPA
DISTSKL0: Muscular dystrophy-dystroglycanopathy, type C
DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
DIS63XZV: Autosomal recessive limb-girdle muscular dystrophy type 2U
Disease Identifiers
MONDO ID
MONDO_0014474
UMLS CUI
C5190987
OMIM ID
616052
MedGen ID
1683417
Orphanet ID
352479
SNOMED CT ID
783554002

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
CRPPA OTC85K8Q Supportive Autosomal recessive [1]
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References

1 ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3.