tangier disease

Preferred Label : tangier disease;

MeSH definition : An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.;

MeSH synonym : analphalipoproteinemia; high-density lipoprotein deficiency, tangier type; High Density Lipoprotein Deficiency, Type 1; high-density lipoprotein deficiency, type i; high density lipoprotein deficiency, type i; Analphalipoproteinemias; HDLDT1; alpha high density lipoprotein deficiency disease; cholesterol thesaurismosis; cholesterol thesaurismoses; thesaurismoses, cholesterol; thesaurismosis, cholesterol; high density lipoprotein deficiency, tangier type;

CISMeF synonym : Tangier; neuropathy, tangier disease; hereditary neuropathy, tangier; neuropathies, tangier disease; tangier disease neuropathies; tangier's disease;

MeSH hyponym : a alphalipoprotein neuropathy; tangier disease neuropathy; Neuropathy of Tangier Disease; Tangier Hereditary Neuropathy; A-alphalipoprotein Neuropathy; A-alphalipoprotein Neuropathies; Neuropathies, A-alphalipoprotein; Neuropathy, A-alphalipoprotein;

Wikipedia link : https://en.wikipedia.org/wiki/Analphalipoproteinemia;

Details

Origin ID

D013631;

UMLS CUI

C0039292;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- ABCA1 wt Allele [NCIt concept]
- ATP binding cassette subfamily A member 1 [HGNC gene]
- ATP binding cassette subfamily A member 1 [ORDO Gene]
- Analphalipoproteinaemia [ICD-11 More detail]
- Hypoalphalipoproteinemia [PASCAL descriptor]
- Lipoprotein deficiency [ICD-10 Sub-category]
- Lipoprotein deficiency [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Familial hypoalphalipoproteinemia (disorder) [SNOMED CT concept]
- Hypoalphalipoproteinemia, primary, 1 [OMIM Phenotype]
- Tangier Disease [NCIt concept]
- Tangier disease [Disease (Nov.)]
- Tangier disease [DO Concept]
- Tangier disease [MedDRA Preferred Term]
- Tangier disease [OMIM Phenotype]
- Tangier disease [ORDO Disease]
- Tangier disease (disorder) [SNOMED CT concept]
- familial hypoalphalipoproteinemia [SNOMED Notion]
DO Cross reference
- Tangier disease [DO Concept]
Indexing information
- apolipoprotein A-I tangier [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Metabolic disease with corneal opacity [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Rare hereditary systemic disease with peripheral neuropathy [ORDO Disease]
- Rare hypolipidemia [ORDO Disease]
ORDO relation(s)
- Tangier disease [ORDO Disease]
Record concept(s)
- tangier disease [MeSH concept]
- tangier disease neuropathy [MeSH concept]
See also
- ATP binding cassette transporter 1 [MeSH Descriptor]
- lipoproteins, hdl [MeSH Descriptor]
- retinitis pigmentosa [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tangier Disease [NCIt concept]
- Tangier disease [OMIM Phenotype]
- Tangier disease [ORDO Disease]
- Tangier disease [MedDRA Preferred Term]
- Tangier disease [DO Concept]
- Tangier disease (disorder) [SNOMED CT concept]

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