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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:chylomicron retention disease
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Accession:DOID:0060357 term browser browse the term
Definition:A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. (DO)
Synonyms:exact_synonym: ANDD;   Anderson Disease;   Anderson Syndrome;   CMRD;   Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein In Intestinal Cells;   Lipid transport defect of intestine
 primary_id: MESH:C535460
 alt_id: OMIM:246700
 xref: GARD:9683;   ORDO:71
For additional species annotation, visit the Alliance of Genome Resources.

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chylomicron retention disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitpna phosphatidylinositol transfer protein, alpha ISS OMIM:246700 MouseDO NCBI chr10:63,731,767...63,772,049
Ensembl chr10:63,731,767...63,772,049
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G Sar1b secretion associated, Ras related GTPase 1B ISO ClinVar Annotator: match by OMIM:246700
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Chylomicron retention disease
PMID:10665502, PMID:12692552, PMID:17309654, PMID:17945526, PMID:19285442, PMID:24033266 NCBI chr10:37,215,989...37,245,603
Ensembl chr10:37,215,937...37,245,658
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Malabsorption Syndromes 118
        chylomicron retention disease 2
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              Dyslipidemias 291
                hypolipoproteinemia 14
                  hypobetalipoproteinemia 9
                    chylomicron retention disease 2
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.