Details of Disease

General Information of Disease (ID: DISBQX3C)

Disease Name Glycosylphosphatidylinositol biosynthesis defect 17
Synonyms GPIBD17; glycosylphosphatidylinositol biosynthesis defect 17
Disease Hierarchy
DISLZR99: Disorder of GPI anchor biosynthesis
DISEOA7S: Lipid metabolism disorder
DIS400QP: Congenital disorder of glycosylation
DISBQX3C: Glycosylphosphatidylinositol biosynthesis defect 17
Disease Identifiers
MONDO ID
MONDO_0060724
UMLS CUI
C4747891
OMIM ID
618010
MedGen ID
1648437

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
PIGH OTMCFF0K Strong Autosomal recessive [1]
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References

1 PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. Clin Genet. 2021 Feb;99(2):313-317. doi: 10.1111/cge.13877. Epub 2020 Nov 27.