Details of Disease

General Information of Disease (ID: DISOYA4X)

Disease Name Autosomal recessive limb-girdle muscular dystrophy type 2O
Synonyms
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-related; muscular dystrophy, limb-girdle, type 2O; limb-girdle muscular dystrophy type 2O; POMGNT1 autosomal recessive limb-girdle muscular dystrophy; LGMD2O; LGMD-POMGNT1 related; muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related; MDDGC3; muscular dystrophy-dystroglycanopathy (limb-girdle) type C3; autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1
Definition
Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia.|The ClinGen working group (https://clinicalgenome.org/affiliation/40151/) noted that 'autosomal recessive limb-girdle muscular dystrophy type 2O' does not have significant associations with POMGNT1. A publication is in preparation.
Disease Hierarchy
DIS0B8FY: Myopathy caused by variation in POMGNT1
DISTSKL0: Muscular dystrophy-dystroglycanopathy, type C
DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
DISOYA4X: Autosomal recessive limb-girdle muscular dystrophy type 2O
Disease Identifiers
MONDO ID
MONDO_0013161
UMLS CUI
C3150417
OMIM ID
613157
MedGen ID
461767
Orphanet ID
206564
SNOMED CT ID
725043006

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
POMGNT1 OTBNOUZC Definitive Autosomal recessive [1]
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References

1 Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. Eur J Hum Genet. 2012 Sep;20(9):945-52. doi: 10.1038/ejhg.2012.40. Epub 2012 Mar 14.