| Descriptor English: | Abetalipoproteinemia | ||||||
| Descriptor Spanish: |
Abetalipoproteinemia
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| Descriptor Portuguese: | Abetalipoproteinemia | ||||||
| Descriptor French: | Abêtalipoprotéinémie | ||||||
| Entry term(s): |
Acanthocytoses Acanthocytosis Bassen Kornzweig Disease Bassen Kornzweig Syndrome Bassen-Kornzweig Disease Bassen-Kornzweig Syndrome Betalipoprotein Deficiency Disease Betalipoprotein Deficiency Diseases Deficiency Disease, Betalipoprotein Deficiency Diseases, Betalipoprotein Disease, Betalipoprotein Deficiency Diseases, Betalipoprotein Deficiency Microsomal Triglyceride Transfer Protein Deficiency Microsomal Triglyceride Transfer Protein Deficiency Disease |
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| Tree number(s): |
C16.320.565.398.500.440.500 C18.452.584.500.875.440.500 C18.452.584.563.500.440.500 C18.452.648.398.500.440.500 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D000012 | ||||||
| Scope note: | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 1966 |
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| History Note: | 1966(1964) |
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| DeCS ID: | 12 | ||||||
| Unique ID: | D000012 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1966/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/08 |
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Abetalipoproteinemia
- Preferred
| Concept UI |
M0000012 |
| Scope note | An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. |
| Preferred term | Abetalipoproteinemia |
| Entry term(s) |
Acanthocytoses Acanthocytosis Bassen Kornzweig Disease Bassen Kornzweig Syndrome Bassen-Kornzweig Disease Bassen-Kornzweig Syndrome Betalipoprotein Deficiency Disease Betalipoprotein Deficiency Diseases Deficiency Disease, Betalipoprotein Deficiency Diseases, Betalipoprotein Disease, Betalipoprotein Deficiency Diseases, Betalipoprotein Deficiency Microsomal Triglyceride Transfer Protein Deficiency Microsomal Triglyceride Transfer Protein Deficiency Disease |
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