Details of Disease

General Information of Disease (ID: DIS2GJDS)

Disease Name Congenital muscular dystrophy with intellectual disability and severe epilepsy
Synonyms
congenital disorder of glycosylation, type Iu; CDG Iu; CDG1U; DPM2-CDG; congenital disorder of glycosylation type Iu; CMD with intellectual disability and severe epilepsy; congenital disorder of glycosylation type 1u; carbohydrate deficient glycoprotein syndrome type Iu; CDG-Iu; CDG syndrome type Iu
Disease Hierarchy
DISO85MT: Disorder of multiple glycosylation
DISBHHT1: Congenital disorder of glycosylation type I
DISFT3J3: Muscular dystrophy-dystroglycanopathy
DIS2GJDS: Congenital muscular dystrophy with intellectual disability and severe epilepsy
Disease Identifiers
MONDO ID
MONDO_0014023
UMLS CUI
C5190603
OMIM ID
615042
MedGen ID
1682844
Orphanet ID
329178
SNOMED CT ID
782772000

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
DPM2 OTDERBWM Strong Autosomal recessive [1]
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References

1 DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632.