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Details
Link-It Detail - Disease - CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
Debug Stats
  • ### Total Build Time: 27 ms 16.234 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 384 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 533 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_RELATIONSHIPS gt=15 ms Completed: 15 ms rowSize= 12.145 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 1.947 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.177 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY C0342789
Definition (1)
A rare autosomal recessive inherited disorder caused by mutations in the CPT1A gene. It is characterized by the presence of defective carnitine palmitoyltransferase 1A which is involved in fatty acid oxidation. Signs and symptoms may be exacerbated during fasting and include hypoketotic hypoglycemia, increased levels of carnitine in the blood, hepatomegaly, seizures, and coma.
Relationships (30)

Relation Types:
diso_​to_​diso : 30


Relationships:
alias_​of : 1
manifestation_​of : 29
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Acidosis, Renal Tubular C0001126
DISO_to_DISOmanifestation_ofimg Acute fatty liver in pregnancy (fetus with carnitine palmitoyltransferase I (CPT1) deficiency) C1850720
DISO_to_DISOmanifestation_ofimg Arrhythmias, Cardiac C0003811
DISO_to_DISOalias_ofimg CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY C0342789
DISO_to_DISOmanifestation_ofimg Cardiomegaly C0018800
DISO_to_DISOmanifestation_ofimg Carnitine palmitoyltransferase I deficiency (fibroblast, liver, leukocytes) C1850727
DISO_to_DISOmanifestation_ofimg Caused by mutation in the carnitine palmitoyltransferase IA gene (CPT1A, 600528.0001) C1850730
DISO_to_DISOmanifestation_ofimg Coma C0009421
DISO_to_DISOmanifestation_ofimg Decreased CPT1 activity C1850728
DISO_to_DISOmanifestation_ofimg Decreased long-chain fatty acid oxidation C1850729
DISO_to_DISOmanifestation_ofimg Diarrhea C0011991
DISO_to_DISOmanifestation_ofimg Elevated creatine kinase C1846818
DISO_to_DISOmanifestation_ofimg Elevated free carnitine C1850726
DISO_to_DISOmanifestation_ofimg Elevated transaminases C0438717
DISO_to_DISOmanifestation_ofimg Encephalopathy, recurrent C1850719
DISO_to_DISOmanifestation_ofimg Enlarged Liver C0019209
DISO_to_DISOmanifestation_ofimg Feeding poor C0576456
DISO_to_DISOmanifestation_ofimg HELLP C0162739
DISO_to_DISOmanifestation_ofimg Hypoglycemia, hypoketotic C1856438
DISO_to_DISOmanifestation_ofimg LETHARGIC C0023380
DISO_to_DISOmanifestation_ofimg Mild to moderate hyperammonemia C1854694
DISO_to_DISOmanifestation_ofimg Muscle Hypotonia C0026827
DISO_to_DISOmanifestation_ofimg Muscle weakness is not a feature C1850721
DISO_to_DISOmanifestation_ofimg No dicarboxylic aciduria C1850723
DISO_to_DISOmanifestation_ofimg No ketonuria C1850724
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanCPT1A1374carnitine palmitoyltransferase 1A (liver)
img OMIM, Score=1000, UMLKSK CUI: C0342789
img OMIM, Score=1000, UMLKSK CUI: C0342789
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0342789CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY0self