Details of Disease

General Information of Disease (ID: DISF5H4E)

Disease Name Congenital disorder of glycosylation, type IAA
Synonyms congenital disorder of glycosylation, type 1aa; CDG1AA; congenital disorder of glycosylation, type IAA; congenital disorder of glycosylation, type IAA; CDG1AA
Disease Hierarchy
DISBHHT1: Congenital disorder of glycosylation type I
DISF5H4E: Congenital disorder of glycosylation, type IAA
Disease Identifiers
MONDO ID
MONDO_0014904
UMLS CUI
C4310727
OMIM ID
617082
MedGen ID
934694

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
NUS1 OT4DQ82L Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.