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ONTOLOGY REPORT - ANNOTATIONS


Term:abetalipoproteinemia
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Accession:DOID:1386 term browser browse the term
Definition: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.
Synonyms:exact_synonym: ABL;   Acanthocytosis;   Bassen Kornzweig Disease;   Bassen Kornzweig Syndrome;   Betalipoprotein Deficiency Disease;   MTP deficiency;   Microsomal Triglyceride Transfer Protein Deficiency;   acanthocytoses;   betalipoprotein deficiency diseases;   microsomal triglyceride transfer protein deficiency disease
 primary_id: MESH:D000012
 alt_id: OMIM:200100;   RDO:0004607
 xref: GARD:5;   NCI:C84525
For additional species annotation, visit the Alliance of Genome Resources.


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abetalipoproteinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt1 DNA methyltransferase 1 JBrowse link 8 21,922,515 21,968,495 RGD:8554872
G Mttp microsomal triglyceride transfer protein JBrowse link 2 243,366,181 243,407,608 RGD:1581045
RGD:1581044
RGD:1581043
RGD:8554872
RGD:7240710
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) JBrowse link 10 90,296,144 90,312,401 RGD:8554872

Term paths to the root
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Term Annotations click to browse term
  disease 15503
    Nutritional and Metabolic Diseases 4395
      disease of metabolism 4395
        lipid metabolism disorder 751
          hypolipoproteinemia 15
            abetalipoproteinemia 3
              Abetalipoproteinemia Neuropathy 0
              Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          inherited metabolic disorder 1899
            lipid metabolism disorder 751
              Dyslipidemias 283
                hypolipoproteinemia 15
                  hypobetalipoproteinemia 10
                    abetalipoproteinemia 3
                      Abetalipoproteinemia Neuropathy 0
                      Wolman Disease with Hypolipoproteinemia and Acanthocytosis 0
paths to the root

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