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Details
Link-It Detail - Disease - Abetalipoproteinemia
Debug Stats
  • ### Total Build Time: 242 ms 25.597 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 569 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=14 ms Completed: 14 ms rowSize= 560 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=48 ms Completed: 48 ms rowSize= 2.847 KB
  • CONCEPT_RELATIONSHIPS gt=155 ms Completed: 155 ms rowSize= 9.332 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 10.612 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Abetalipoproteinemia C0000744
Definition (1)
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.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Hypobetalipoproteinemias C0020597
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501237img Hypobetalipoproteinemias C0020597
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Hypobetalipoproteinemias C0020597
Relationships (20)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 14
diso_​to_​phen : 2


Relationships:
none : 6
associated_​with : 2
entry_​version_​of : 1
manifestation_​of : 9
mapped_​to : 1
use : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN15img genetic aspects C0017399
DISO_to_CHEM12img Carrier Protein C0007292
DISO_to_PHEN10img genetic aspects C0017399
DISO_to_ANAT5img In Blood C0005768
DISO_to_CHEM5img Apolipoproteins B C0003593
DISO_to_DISO5img Complication Aspects C1171258
DISO_to_CHEMassociated_withimg Lipoproteins, LDL C0023823
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOentry_version_ofimg Abetalipoproteinemia C0000744
DISO_to_DISOmanifestation_ofimg Abetalipoproteinemia (lab finding) C1963709
DISO_to_DISOmapped_toimg Abetalipoproteinemia neuropathy C2931925
DISO_to_DISOmanifestation_ofimg Acanthocytosis C0687751
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg Burr cell C0221279
DISO_to_DISOmanifestation_ofimg DEMYELINATION C0011304
DISO_to_DISOmanifestation_ofimg Due to mutations in the apolipoprotein B gene (APOB, 107730.0013) C1860226
DISO_to_DISOmanifestation_ofimg Due to mutations in the microsomal triglyceride transfer protein gene (MTP, 157147.0001) C1860225
DISO_to_DISOmanifestation_ofimg Fat malabsorption C0554103
DISO_to_DISOuseimg Hypo beta Lipoproteinemia C0020597
DISO_to_DISOmanifestation_ofimg Retinal Diseases C0035309
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanCPT1C126129carnitine palmitoyltransferase 1C
img GENERIF, Score=983, Pubmed Id: 18385088, UMLKSK CUI: C0000744
HumanSAR1B51128SAR1 homolog B (S. cerevisiae)
img OMIM, Score=833, UMLKSK CUI: C0000744
HumanMTTP4547microsomal triglyceride transfer protein
img OMIM, Score=1000, UMLKSK CUI: C0000744
img OMIM, Score=1000, UMLKSK CUI: C0000744
img GENERIF, Score=1000, Pubmed Id: 18027103, UMLKSK CUI: C0000744
HumanAPOB338apolipoprotein B
img GENERIF, Score=1000, Pubmed Id: 17158591, UMLKSK CUI: C0000744
img GENERIF, Score=1000, Pubmed Id: 12872264, UMLKSK CUI: C0000744
img GENERIF, Score=1000, Pubmed Id: 18027103, UMLKSK CUI: C0000744
img GENERIF, Score=901, Pubmed Id: 18492086, UMLKSK CUI: C0000744
img GENERIF, Score=734, Pubmed Id: 12124991, UMLKSK CUI: C0000744
img GENERIF, Score=861, Pubmed Id: 14967820, UMLKSK CUI: C0000744
img GENERIF, Score=1000, Pubmed Id: 12551903, UMLKSK CUI: C0000744
img GAD, Score=1000, Pubmed Id: 3473077, UMLKSK CUI: C0000744
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0000744Abetalipoproteinemia0self