MCID: CRN039
MIFTS: 13

Carnitine Acetyltransferase Deficiency

Categories: Rare diseases

Aliases & Classifications for Carnitine Acetyltransferase Deficiency

MalaCards integrated aliases for Carnitine Acetyltransferase Deficiency:

Name: Carnitine Acetyltransferase Deficiency 57 20 71
Deficiency of Carnitine Acetyltransferase 6
Acetyl-Carnitine Deficiency 20

Classifications:



External Ids:

OMIM® 57 606175
MedGen 41 C1443228
UMLS 71 C1443228

Summaries for Carnitine Acetyltransferase Deficiency

MalaCards based summary : Carnitine Acetyltransferase Deficiency, also known as deficiency of carnitine acetyltransferase, is related to encephalopathy and hypotonia, and has symptoms including ataxia An important gene associated with Carnitine Acetyltransferase Deficiency is CRAT (Carnitine O-Acetyltransferase).

More information from OMIM: 606175

Related Diseases for Carnitine Acetyltransferase Deficiency

Diseases related to Carnitine Acetyltransferase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 encephalopathy 10.0
2 hypotonia 10.0
3 peripheral nervous system disease 10.0
4 neuropathy 10.0

Symptoms & Phenotypes for Carnitine Acetyltransferase Deficiency

Clinical features from OMIM®:

606175 (Updated 05-Mar-2021)

UMLS symptoms related to Carnitine Acetyltransferase Deficiency:


ataxia

Drugs & Therapeutics for Carnitine Acetyltransferase Deficiency

Search Clinical Trials , NIH Clinical Center for Carnitine Acetyltransferase Deficiency

Genetic Tests for Carnitine Acetyltransferase Deficiency

Anatomical Context for Carnitine Acetyltransferase Deficiency

Publications for Carnitine Acetyltransferase Deficiency

Articles related to Carnitine Acetyltransferase Deficiency:

# Title Authors PMID Year
1
Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: a functional defect of pyruvate oxidation? 61 57
574220 1979
2
Therapy of mitochondrial disorders. 57
3119936 1987
3
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome. 61
31448845 2020
4
The Acetyl Group Buffering Action of Carnitine Acetyltransferase Offsets Macronutrient-Induced Lysine Acetylation of Mitochondrial Proteins. 61
26748706 2016

Variations for Carnitine Acetyltransferase Deficiency

ClinVar genetic disease variations for Carnitine Acetyltransferase Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CRAT NM_000755.5(CRAT):c.1705G>A (p.Val569Met) SNV Likely pathogenic 617561 rs762425351 9:131857852-131857852 9:129095573-129095573
2 CRAT NM_000755.5(CRAT):c.329A>G (p.Tyr110Cys) SNV Likely pathogenic 617562 rs141970897 9:131866548-131866548 9:129104269-129104269

Expression for Carnitine Acetyltransferase Deficiency

Search GEO for disease gene expression data for Carnitine Acetyltransferase Deficiency.

Pathways for Carnitine Acetyltransferase Deficiency

GO Terms for Carnitine Acetyltransferase Deficiency

Sources for Carnitine Acetyltransferase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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