Details of Disease

General Information of Disease (ID: DISCCM7R)

Disease Name DPM3-congenital disorder of glycosylation
Synonyms
Cdg1(Dpm3); congenital disorder of glycosylation, type Io; DG1O; CDGIo; DPM3-CDG (CDG-Io); CDG Io; congenital disorder of glycosylation type 1o; CDG1O; DPM3-congenital disorder of glycosylation; CDG-Io; DPM3-CDG; muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15; carbohydrate deficient glycoprotein syndrome type Io; CDG syndrome type Io; congenital disorder of glycosylation type Io
Definition DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy.
Disease Hierarchy
DISO85MT: Disorder of multiple glycosylation
DISBHHT1: Congenital disorder of glycosylation type I
DISFT3J3: Muscular dystrophy-dystroglycanopathy
DISCCM7R: DPM3-congenital disorder of glycosylation
Disease Identifiers
MONDO ID
MONDO_0013049
MESH ID
C567857
UMLS CUI
C2752007
OMIM ID
612937
MedGen ID
414534
Orphanet ID
263494
SNOMED CT ID
725044000

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
DPM3 OTSB4XO0 Strong Autosomal recessive [1]
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References

1 A recurrent homozygous missense DPM3 variant leads to muscle and brain disease. Clin Genet. 2022 Dec;102(6):530-536. doi: 10.1111/cge.14208. Epub 2022 Aug 19.