Details of Disease | DrugMAP

General Information of Disease (ID: DIS4M8L1)

Disease Name	Obsolete apolipoprotein A-I deficiency
Synonyms	familial apoA-I deficiency; ApoA-I deficiency; familial hypoalphalipoproteinemia
Definition	OBSOLETE. A rare lipoprotein metabolism disorder characterized biochemically by complete absence of apolipoprotein AI and extremely low plasma high density lipoprotein (HDL) cholesterol, and clinically by corneal opacities and xanthomas complicated with premature coronary heart disease (CHD).
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIS4M8L1: Obsolete apolipoprotein A-I deficiency

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOA1	TT7GN3U	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA1	DT61TWI	Supportive	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCA1	OT94G6BQ	Supportive	Autosomal dominant	[2]
APOA1	OT5THARI	Supportive	Autosomal dominant	[1]
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References

1	Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. Biochem Biophys Res Commun. 1993 Oct 29;196(2):950-5. doi: 10.1006/bbrc.1993.2341.
2	Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. Biochim Biophys Acta. 2004 May 24;1689(1):47-57. doi: 10.1016/j.bbadis.2004.01.007.