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Details
Link-It Detail - Disease - Lecithin Acyltransferase Deficiency
Debug Stats
  • ### Total Build Time: 175 ms 20.415 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 368 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 579 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= 561 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=23 ms Completed: 23 ms rowSize= 2.849 KB
  • CONCEPT_RELATIONSHIPS gt=117 ms Completed: 117 ms rowSize= 10.256 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 4.450 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.169 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Lecithin Acyltransferase Deficiency C0023195
Definition (1)
An autosomal recessively inherited disorder caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE that facilitates the esterification of lipoprotein cholesterol and subsequent removal from peripheral tissues to the liver. This defect results in low HDL-cholesterol level in blood and accumulation of free cholesterol in tissue leading to a triad of CORNEAL OPACITY, hemolytic anemia (ANEMIA, HEMOLYTIC), and PROTEINURIA.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Hypoalphalipoproteinemias C0473527
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255177img Hypoalphalipoproteinemias C0473527
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501237img Hypoalphalipoproteinemias C0473527
Relationships (23)

Relation Types:
diso_​to_​chem : 3
diso_​to_​diso : 18
diso_​to_​phen : 2


Relationships:
none : 4
associated_​with : 2
isa : 1
manifestation_​of : 15
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_CHEM16img Phosphatidylcholine-Sterol O-Acyltransferase C0023194
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_CHEM12img Phosphatidylcholine-Sterol O-Acyltransferase C0023194
DISO_to_CHEMassociated_withimg 3 Keto ACP Synthase C0000435
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ANAEMIA HAEMOLYTIC C0002878
DISO_to_DISOmanifestation_ofimg Caused by mutations in the lecithin:cholesterol acyltransferase gene (LCAT, 606967.0001). C1855531
DISO_to_DISOmanifestation_ofimg Corneal Opacity C0010038
DISO_to_DISOmanifestation_ofimg Corneal lipid deposits C1504546
DISO_to_DISOmanifestation_ofimg Decreased apoA-I and apoA-II C1855525
DISO_to_DISOmanifestation_ofimg Decreased lecithin:cholesterol acyltransferase mass and activity C1855529
DISO_to_DISOmanifestation_ofimg Decreased plasma HDL (<1/10 of normal levels) C1855526
DISO_to_DISOmanifestation_ofimg Decreased plasma esterified cholesterol C1855524
DISO_to_DISOisaimg Fish-Eye Disease C0342895
DISO_to_DISOmanifestation_ofimg Foam cells in bone marrow and renal glomeruli C1855530
DISO_to_DISOmanifestation_ofimg Increased plasma free cholesterol C1855527
DISO_to_DISOmanifestation_ofimg Increased plasma phospholipids C1855528
DISO_to_DISOmanifestation_ofimg Increased plasma triglycerides C0858041
DISO_to_DISOmanifestation_ofimg Kidney Failure C0035078
DISO_to_DISOpermuted_term_ofimg Lecithin Acyltransferase Deficiency C0023195
DISO_to_DISOmanifestation_ofimg Normochromic anemia C0235983
DISO_to_DISOmanifestation_ofimg Proteinuria C0033687
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanLCAT3931lecithin-cholesterol acyltransferase
img GENERIF, Score=1000, Pubmed Id: 15994445, UMLKSK CUI: C0023195
img GENERIF, Score=901, Pubmed Id: 16051254, UMLKSK CUI: C0023195
img GENERIF, Score=1000, Pubmed Id: 12957688, UMLKSK CUI: C0023195
img GENERIF, Score=673, Pubmed Id: 17526537, UMLKSK CUI: C0023195
img GENERIF, Score=1000, Pubmed Id: 16216249, UMLKSK CUI: C0023195
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023195Lecithin Acyltransferase Deficiency0self