Details of Disease | DrugMAP

General Information of Disease (ID: DISGQOKX)

Disease Name	Familial apolipoprotein C-II deficiency
Synonyms	hyperlipoproteinemia, type 1B; apolipoprotein C-II deficiency; Apoc2 deficiency; C-II Anapolipoproteinemia; familial apoC-II deficiency; hyperlipoproteinemia, type IB; familial apolipoprotein C-II deficiency
Disease Hierarchy	DISPGGVL: Syndromic dyslipidemia DIS4R2OG: Hyperlipidaemia DISFZN9R: Familial chylomicronemia syndrome DISGQOKX: Familial apolipoprotein C-II deficiency
Disease Identifiers	MONDO ID MONDO_0008810 MESH ID D008072 UMLS CUI C1720779 OMIM ID 207750 MedGen ID 328375 Orphanet ID 309020

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
APOC2	OTLINYIQ	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.