Tangier disease

Preferred Label : Tangier disease;

Symbol : TGD;

CISMeF acronym : HDLDT1; TGD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : High density lipoprotein deficiency, tangier type; HDLDT1; ANALPHALIPOPROTEINEMIA; High density lipoprotein deficiency, type 1;

Description : Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density lipoproteins (HDL) resulting in tissue accumulation of cholesterol esters. Clinical features include very large, yellow-orange tonsils, enlarged liver, spleen and lymph nodes, hypocholesterolemia, and abnormal chylomicron remnants (Brooks-Wilson et al., 1999).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATP-binding cassette, subfamily A, member 1 gene (ABCA1, 600046.0001);

Laboratory abnormalities : Decreased or absent apolipoprotein A-I; Decreased serum HDL cholesterol; Accumulation of cholesterol esters in various tissues; Deficient efflux of intracellular cholesterol;

Prefixed ID : #205400;

Details

Origin ID

205400;

UMLS CUI

C0039292;

Automatic exact mappings (from CISMeF team)
- ABCA1 wt Allele [NCIt concept]
- ATP binding cassette subfamily A member 1 [ORDO Gene]
- ATP binding cassette subfamily A member 1 [HGNC gene]
- Analphalipoproteinaemia [ICD-11 More detail]
- Hypoalphalipoproteinemia [PASCAL descriptor]
- Lipoprotein deficiency [ICD-10 Sub-category]
- Lipoprotein deficiency [ICD-10 Sub-category (who)]
- Total Gut Decontamination [NCIt concept]
Currated CISMeF NLP mapping
- Familial hypoalphalipoproteinemia (disorder) [SNOMED CT concept]
- Tangier Disease [NCIt concept]
- Tangier disease [Disease (Nov.)]
- Tangier disease [DO Concept]
- Tangier disease [MedDRA Preferred Term]
- Tangier disease [ORDO Disease]
- Tangier disease (disorder) [SNOMED CT concept]
- familial hypoalphalipoproteinemia [SNOMED Notion]
- hypoalphalipoproteinemia, familial [MeSH concept]
- tangier disease [MeSH Descriptor]
- tangier disease [MeSH concept]
DO Cross reference
- Tangier disease [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily a, member 1 [OMIM gene]
HPO term(s)
- Atherosclerosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axonal peripheral neuropathy [HPO term]
- Cicatricial ectropion [HPO term]
- Corneal opacity [HPO term]
- Coronary artery atherosclerosis [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Demyelination [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Dry skin [HPO term]
- Ectropion [HPO term]
- Facial diplegia [HPO term]
- Hepatomegaly [HPO term]
- Hyporeflexia [HPO term]
- Impaired pain sensation [HPO term]
- Impaired temperature sensation [HPO term]
- Left ventricular hypertrophy [HPO term]
- Myocardial infarction [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Opacification of the corneal stroma [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Peripheral demyelination [HPO term]
- Splenomegaly [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Tangier disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tangier Disease [NCIt concept]
- Tangier disease [ORDO Disease]
- Tangier disease [MedDRA Preferred Term]
- Tangier disease [DO Concept]
- Tangier disease (disorder) [SNOMED CT concept]
- tangier disease [MeSH Descriptor]
- tangier disease [MeSH concept]

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