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Parent Node:
expanddisease of catalytic activity (MONDO:0044976)
..Starting node
..expandcarnitine acetyltransferase deficiency ()

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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:11642
Name:carnitine acetyltransferase deficiency
Definition:A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.
Alternative IDs:606175
ParentIDs:
TreeNumbers:
Synonyms:Acetyl-carnitine deficiency; acetyl-carnitine deficiency; carnitine acetyltransferase deficiency; CrAT
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM: 606175;
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000755.5(CRAT):c.1705G>A (p.Val569Met)1384CRATUncertain significance762425351RCV000766223|RCV001855853; NMONDO:MONDO:0011642,MedGen:C1443228,OMIM:606175|MedGen:CN5172029131857852131857852NC_000009.11:g.131857852C>T-
NM_000755.5(CRAT):c.329A>G (p.Tyr110Cys)1384CRATLikely benign141970897RCV000766224|RCV001413508; NMONDO:MONDO:0011642,MedGen:C1443228,OMIM:606175|MedGen:C36619009131866548131866548NC_000009.11:g.131866548T>C-
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