Details of Disease

General Information of Disease (ID: DISBHHT1)

Disease Name Congenital disorder of glycosylation type I
Synonyms
RFT1-CDG (CDG-1n); ALG6-CDG; ALG3-CDG; ALG11-CDG; MPDU1-CDG; MPI-CDG (CDG-1b); DPM2-CDG; DPM1-CDG (CDG-1e); DOLK-CDG (CDG-1m); ALG2-CDG; ALG3-CDG (CDG-1d); MPDU1-CDG (CDG-1f); ALG12-CDG (CDG-1g); DPM1-CDG; DPAGT1-CDG (CDG-1j); DOLK-CDG; SRD5A3-CDG; ALG9-CDG (CDG-1l); ALG8-CDG (CDG-1h); ALG2-CDG (CDG-1i); PMM2-CDG; ALG12-CDG; MPI-CDG; PMM2-CDG (CDG-1a); DPM3-CDG; ALG1-CDG (CDG-1k); RFT1-CDG; DPM2-CDG (CDG-1u); ALG8-CDG; ALG1-CDG; ALG9-CDG; DPM3-CDG (CDG-1o); SRD5A3-CDG (CDG-1q); DPAGT1-CDG; ALG11-CDG (CDG-1p); ALG6-CDG (CDG-1c); congenital disorders of glycosylation, type I
Definition A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor.
Disease Hierarchy
DIS400QP: Congenital disorder of glycosylation
DISBHHT1: Congenital disorder of glycosylation type I
Disease Identifiers
MONDO ID
MONDO_0005500
UMLS CUI
C4700504
MedGen ID
1684618

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PMM2 DEBRX3L Definitive Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PMM2 OTBXEB91 Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.