Chylomicron retention disease

Preferred Label : Chylomicron retention disease;

Symbol : CMRD;

CISMeF acronym : ANDD; CMRD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lipid transport defect of intestine; Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells; Anderson disease; ANDD;

Description : Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SAR1, S. cerevisiae, homolog B gene (SAR1B, 607690.0001);

Laboratory abnormalities : Hypocholesterolemia; Deficiency of fat-soluble vitamins; Normal serum triglycerides; Absence of chylomicrons in lymph and plasma; Defect in chylomicron secretion; Hypobetalipoproteinemia;

Prefixed ID : #246700;

Details

Origin ID

246700;

UMLS CUI

C0795956;

Automatic exact mappings (from CISMeF team)
- Chylomicron retention disease [ICD-11 More detail]
- Hyperchylomicronemia [ICD-10 Sub-category]
- SAR1B wt Allele [NCIt concept]
CISMeF manual mappings
- Chylomicron retention disease (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Chylomicron retention disease [MeSH concept]
- Chylomicron retention disease [ORDO Disease]
- chylomicron retention disease [DO Concept]
- chylomicron retention disease [MeSH Supplementary Concept]
- chylomicron retention disorder [Disease (Nov.)]
DO Cross reference
- chylomicron retention disease [DO Concept]
Genes related to phenotype
- Secretion-associated ras-related gtpase 1b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased LDL cholesterol concentration [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Growth delay [HPO term]
- Hypoalbuminemia [HPO term]
- Hypocholesterolemia [HPO term]
- Hypotriglyceridemia [HPO term]
- Impaired vibratory sensation [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Malnutrition [HPO term]
- Reduced tendon reflexes [HPO term]
- Steatorrhea [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- Chylomicron retention disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chylomicron retention disease [ORDO Disease]
- Chylomicron retention disease [MeSH concept]
- Chylomicron retention disease (disorder) [SNOMED CT concept]
- chylomicron retention disease [MeSH Supplementary Concept]
- chylomicron retention disease [DO Concept]
- chylomicron retention disorder [Disease (Nov.)]

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