Details of Disease

General Information of Disease (ID: DIS57P0M)

• Disease Name: Tangier disease
• Synonyms: HDLDT1; high density lipoprotein deficiency, Tangier type; familial high density lipoprotein deficiency disease; cholesterol thesaurismosis; A-alphalipoprotein neuropathy; high density lipoprotein deficiency, type 1; tgd; HDL lipoprotein deficiency disease; Analphalipo-proteinemia; Alpha high density lipoprotein deficiency disease; familial Hypoalphalipo-proteinemia; familial high density lipoprotein deficiency; defective adenosine triphosphate-binding cassette transporter A1; ATP-binding cassette transporter A1 deficiency; familial alpha-lipoprotein deficiency; Analphalipoproteinemia; Tangier disease
• Definition: Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.
• Disease Hierarchy:
  DISZFMB5: Hypoalphalipoproteinemia
  DISWXAH4: Hypolipoproteinemia
  DIS57P0M: Tangier disease
• Disease Identifiers:
  MONDO ID: MONDO_0008783
  MESH ID: D013631
  UMLS CUI: C0039292
  OMIM ID: 205400
  MedGen ID: 52644
  Orphanet ID: 31150
  SNOMED CT ID: 723579009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
APOA1	TT5S8DR	Limited	Biomarker	[1]
ABCA4	TTLB52K	Strong	Altered Expression	[2]
ANGPTL3	TT59GO7	Strong	Biomarker	[3]
APOA2	TTGQA9W	Strong	Biomarker	[4]
APOA4	TTNC3WS	Strong	Genetic Variation	[5]
LCAT	TTGZ91P	Strong	Biomarker	[6]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB5	DTKVEXO	Strong	Genetic Variation	[7]
ABCA1	DT61TWI	Definitive	Autosomal recessive	[8]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HEATR6	OTD3MYS0	Limited	Genetic Variation	[9]
NPC2	OTE9UEJC	moderate	Biomarker	[10]
GPLD1	OTUUQOVY	Strong	Biomarker	[11]
GPR162	OTK4LT3K	Strong	Biomarker	[12]
ABCA1	OT94G6BQ	Definitive	Autosomal recessive	[8]

References

• [1] ATP-binding cassette transporter 1 (ABCA1) deficiency decreases platelet reactivity and reduces thromboxane A2 production independently of hematopoietic ABCA1.J Thromb Haemost. 2016 Mar;14(3):585-95. doi: 10.1111/jth.13247. Epub 2016 Feb 17.
• [2] Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease.Biochem Biophys Res Commun. 2001 May 18;283(4):821-30. doi: 10.1006/bbrc.2001.4863.
• [3] ATP-Binding Cassette Transporter A1 Deficiency in Human Induced Pluripotent Stem Cell-Derived Hepatocytes Abrogates HDL Biogenesis and Enhances Triglyceride Secretion.EBioMedicine. 2017 Apr;18:139-145. doi: 10.1016/j.ebiom.2017.03.018. Epub 2017 Mar 14.
• [4] Tangier disease. High density lipoprotein deficiency due to defective metabolism of an abnormal apolipoprotein A-i (ApoA-ITangier).J Clin Invest. 1982 Nov;70(5):934-45. doi: 10.1172/jci110705.
• [5] A method to screen apolipoprotein polymorphisms in whole plasma: description of apolipoprotein A-IV variants in dyslipidemias and a reassessment of apolipoprotein A-I in Tangier disease.Biochim Biophys Acta. 1987 Apr 24;918(3):242-9. doi: 10.1016/0005-2760(87)90227-x.
• [6] Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy.Nat Genet. 1998 Sep;20(1):96-8. doi: 10.1038/1770.
• [7] Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.J Lipid Res. 2002 Oct;43(10):1610-7. doi: 10.1194/jlr.m200223-jlr200.
• [8] Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet. 1999 Aug;22(4):336-45. doi: 10.1038/11905.
• [9] A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.Brain. 2003 Apr;126(Pt 4):920-7. doi: 10.1093/brain/awg074.
• [10] Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.J Inherit Metab Dis. 2020 May;43(3):574-585. doi: 10.1002/jimd.12191. Epub 2019 Dec 5.
• [11] Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts.J Lipid Res. 2001 Feb;42(2):249-57.
• [12] Plasma apolipoprotein concentrations in familial apolipoprotein A-I and A-II deficiency (Tangier disease).Metabolism. 1981 Aug;30(8):805-9. doi: 10.1016/0026-0495(81)90027-5.