Abetalipoproteinemia

Preferred Label : Abetalipoproteinemia;

Symbol : ABL;

CISMeF acronym : ABL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mtp deficiency; Bassen-kornzweig syndrome; Microsomal triglyceride transfer protein deficiency; ACANTHOCYTOSIS;

Description : Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the microsomal triglyceride transfer protein gene (MTP, 157147.0001);

Laboratory abnormalities : Abetalipoproteinemia;

Prefixed ID : #200100;

Details

Origin ID

200100;

UMLS CUI

C0000744;

Automatic exact mappings (from CISMeF team)
- ABL1 Gene [NCIt concept]
- ABL1 wt Allele [NCIt concept]
- Lipoprotein deficiency [ICD-10 Sub-category]
- Lipoprotein deficiency [ICD-10 Sub-category (who)]
- MTTP wt Allele [NCIt concept]
- Oncogene ABL1 [NCIt concept]
- genes, abl [MeSH Descriptor]
- genes, abl [MeSH concept]
- hypobetalipoproteinemia, familial, apolipoprotein B [MeSH Descriptor]
- hypobetalipoproteinemia, familial, apolipoprotein B [MeSH concept]
- microsomal triglyceride transfer protein [ORDO Gene]
- microsomal triglyceride transfer protein [HGNC gene]
Currated CISMeF NLP mapping
- Abetalipoproteinaemia [ICD-11 More detail]
- Abetalipoproteinaemia [MedDRA Preferred Term]
- Abetalipoproteinemia [PASCAL descriptor]
- Abetalipoproteinemia [MedDRA LLT]
- Abetalipoproteinemia [HPO term]
- Abetalipoproteinemia [NCIt concept]
- Abetalipoproteinemia [ORDO Disease]
- Abetalipoproteinemia (disorder) [SNOMED CT concept]
- Acanthocytosis [PASCAL descriptor]
- Acanthocytosis [HPO term]
- Acanthocytosis [MedDRA LLT]
- Acanthocytosis (finding) [SNOMED CT concept]
- Constitutional hemolytic anemia due to acanthocytosis [ORDO Disease]
- abetalipoproteinemia [DO Concept]
- abetalipoproteinemia [Disease (Nov.)]
- abetalipoproteinemia [MeSH Descriptor]
- abetalipoproteinemia [MeSH concept]
- abetalipoproteinemia [SNOMED Notion]
- acanthocytosis [Disease (Nov.)]
DO Cross reference
- abetalipoproteinemia [DO Concept]
Genes related to phenotype
- Microsomal triglyceride transfer protein [OMIM gene]
HPO term(s)
- Abetalipoproteinemia [HPO term]
- Acanthocytosis [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- CNS demyelination [HPO term]
- Demyelination [HPO term]
- Fat malabsorption [HPO term]
- Peripheral demyelination [HPO term]
- Retinal degeneration [HPO term]
- Retinopathy [HPO term]
ORDO concept(s)
- Abetalipoproteinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Abetalipoproteinaemia [ICD-11 More detail]
- Abetalipoproteinaemia [MedDRA Preferred Term]
- Abetalipoproteinemia [ORDO Disease]
- Abetalipoproteinemia [NCIt concept]
- Abetalipoproteinemia [HPO term]
- Abetalipoproteinemia [MedDRA LLT]
- Abetalipoproteinemia (disorder) [SNOMED CT concept]
- abetalipoproteinemia [SNOMED Notion]
- abetalipoproteinemia [MeSH Descriptor]
- abetalipoproteinemia [MeSH concept]
- abetalipoproteinemia [DO Concept]
- abetalipoproteinemia [Disease (Nov.)]
Validated automatic mappings to NTBT
- Acanthocytosis [ICD-11 More detail]

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