Details of Disease

General Information of Disease (ID: DISOG6KW)

Disease Name Hyperlipoproteinemia, type 1D
Synonyms hyperlipoproteinemia, type ID; familial hyperlipidemia caused by mutation in GPIHBP1; hyperlipoproteinemia, type 1D; GPIHBP1 familial hyperlipidemia
Definition Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.
Disease Hierarchy
DISPGGVL: Syndromic dyslipidemia
DISCPWH9: Autosomal recessive disease
DIS4R2OG: Hyperlipidaemia
DISFZN9R: Familial chylomicronemia syndrome
DISOG6KW: Hyperlipoproteinemia, type 1D
Disease Identifiers
MONDO ID
MONDO_0014412
UMLS CUI
C4014767
OMIM ID
615947
MedGen ID
863204
Orphanet ID
535458

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
GPIHBP1 OTDF8R2M Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.