Details of Disease | DrugMAP

General Information of Disease (ID: DIS9ENQR)

Disease Name	Hypoalphalipoproteinemia, primary, 1
Synonyms	HDL cholesterol, Low serum; familial HDL deficiency; FHD; HDLD; hypoalphalipoproteinemia, primary; high density lipoprotein deficiency; FHA; HDL deficiency, familial, 1; hypoalphalipoproteinemia, familial
Definition	Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene.
Disease Hierarchy	DISO5FAY: Inborn error of metabolism DISZFMB5: Hypoalphalipoproteinemia DIS9ENQR: Hypoalphalipoproteinemia, primary, 1
Disease Identifiers	MONDO ID MONDO_0011393 UMLS CUI C5231558 OMIM ID 604091 MedGen ID 1684828

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA1	DT61TWI	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCA1	OT94G6BQ	Definitive	Autosomal dominant	[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.