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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Lipid Metabolism, Inborn Errors (D008052)
..Starting node ..Carnitine-Acylcarnitine Translocase Deficiency (C562812)
Child Nodes:
Sister Nodes:
..2,4-Dienoyl-CoA Reductase Deficiency (C565624)
..Acetyl-Coa Carboxylase Deficiency (C562678)
..Alpha-Methylacyl-CoA Racemase Deficiency (C565768)
..Apolipoprotein E, Deficiency or Defect of (C566260)
..Barth Syndrome (D056889) 2
..Carnitine palmitoyl transferase 1A deficiency (C535588)
..Carnitine Palmitoyltransferase II Deficiency, Infantile (C563462)
..Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)
..Carnitine-Acylcarnitine Translocase Deficiency (C562812)
..Cholesteryl Ester Transfer Protein Deficiency (C564591)
..Cytosolic acetoacetyl-CoA thiolase deficiency (C536005)
..Desmosterolosis (C566555)
..Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency (C536080)
..Hyperlipidemia, Familial Combined (D006950) 2
..Hyperlipoproteinemia Type I (D008072) 1
..Hyperlipoproteinemia Type II (D006938) 4
..Hyperlipoproteinemia Type III (D006952)
..Hyperlipoproteinemia Type IV (D006953)
..Hyperlipoproteinemia Type V (D006954)
..Hypolipoproteinemias (D007009) 14
..Lipase deficiency combined (C535904)
..Lipidoses (D008064) 71
..Lipodystrophy, Congenital Generalized (D052497) 3
..Long-chain acyl-CoA dehydrogenase deficiency (C535690)
..Lp(A) Deficiency, Congenital (C563618)
..Medium chain acyl CoA dehydrogenase deficiency (C536038)
..Myopathy with Abnormal Lipid Metabolism (C562935)
..Neutral Lipid Storage Disease with Myopathy (C565192)
..Peroxisomal ACYL-COA oxidase deficiency (C536662)
..Short chain Acyl CoA dehydrogenase deficiency (C537596)
..Sitosterolemia (C537345)
..Smith-Lemli-Opitz Syndrome (D019082) 1
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
..Triglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..Triglyceride Storage Disease, Type I (C566031)
..Triglyceride Storage Disease, Type II (C566030)
..VLCAD deficiency (C536353)
..Xanthomatosis, Cerebrotendinous (D019294)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1779

Name:

Carnitine-Acylcarnitine Translocase Deficiency

Definition:

Alternative IDs:

OMIM:212138

ParentIDs:

MESH:D008052

TreeNumbers:

C16.320.565.398/C562812 |C18.452.584.562/C562812 |C18.452.648.398/C562812

Synonyms:

CACTD |CACT Deficiency |Carnitine-Acylcarnitine Carrier Deficiency |Carnitine Acylcarnitine Translocase Deficiency

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C562812
MeSH: C562812
OMIM: 212138;

Genes: SLC25A20;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001678	Atrioventricular block
3	HP:0001662	Bradycardia
4	HP:0001638	Cardiomyopathy
5	HP:0006543	Cardiorespiratory arrest
6	HP:0001259	Coma
7	HP:0003215	Dicarboxylic aciduria
8	HP:0003236	Elevated circulating creatine kinase concentration
9	HP:0002910	Elevated hepatic transaminase
10	HP:0001290	Generalized hypotonia
11	HP:0002240	Hepatomegaly
12	HP:0001987	Hyperammonemia
13	HP:0001943	Hypoglycemia
14	HP:0002615	Hypotension
15	HP:0000737	Irritability
16	HP:0001254	Lethargy
17	HP:0001324	Muscle weakness
18	HP:0006682	Premature ventricular contraction
19	HP:0003201	Rhabdomyolysis
20	HP:0001250	Seizure
21	HP:0001714	Ventricular hypertrophy
22	HP:0004756	Ventricular tachycardia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000387.5(SLC25A20):c.897dupC (p.Asn300Glnfs)	788	SLC25A20	Pathogenic	587776759	RCV000012915;	N	MedGen:C0342791,OMIM:212138,ORPHA:159,SNOMED CT:238003000	3	48895152	48895152	NM_000387.5:c.897dupC	NP_000378.1:p.Asn300Glnfs		OMIM Allelic Variant:613698.0001	C0342791 212138 Carnitine acylcarnitine translocase deficiency
NM_000387.5(SLC25A20):c.713A>G (p.Gln238Arg)	788	SLC25A20	Pathogenic	28934589	RCV000012921; RCV000153966;	N	MedGen:C0342791,OMIM:212138,ORPHA:159,SNOMED CT:238003000; MedGen:CN221809	3	48896530	48896530	NM_000387.5:c.713A>G	NP_000378.1:p.Gln238Arg	NC_000003.11:g.48896530T>C	HGMD:CM031756,OMIM Allelic Variant:613698.0007	C0342791 212138 Carnitine acylcarnitine translocase deficiency; CN221809 not provided
NM_000387.5(SLC25A20):c.576G>A (p.Trp192Ter)	788	SLC25A20	Pathogenic	587777286	RCV000114402;	N	MedGen:C0342791,OMIM:212138,ORPHA:159,SNOMED CT:238003000	3	48897020	48897020	NM_000387.5:c.576G>A	NP_000378.1:p.Trp192Ter	3:g.48897020C>T	OMIM Allelic Variant:613698.0008	C0342791 212138 Carnitine acylcarnitine translocase deficiency
NM_000387.5(SLC25A20):c.496C>T (p.Arg166Ter)	788	SLC25A20	Pathogenic	151340616	RCV000012918;	N	MedGen:C0342791,OMIM:212138,ORPHA:159,SNOMED CT:238003000	3	48900014	48900014	NM_000387.5:c.496C>T	NP_000378.1:p.Arg166Ter	NC_000003.11:g.48900014G>A	OMIM Allelic Variant:613698.0004	C0342791 212138 Carnitine acylcarnitine translocase deficiency
NM_000387.5(SLC25A20):c.199_326del128 (p.Gly67Leufs)	788	SLC25A20	Pathogenic	-1	RCV000012916;	N	MedGen:C0342791,OMIM:212138,ORPHA:159,SNOMED CT:238003000	3	48921430	48921557	NM_000387.5:c.199_326del128	NP_000378.1:p.Gly67Leufs		OMIM Allelic Variant:613698.0002,dbVar:nssv7487162,dbVar:nsv1197563	C0342791 212138 Carnitine acylcarnitine translocase deficiency
NM_000387.5(SLC25A20):c.199-10T>G	788	SLC25A20	Pathogenic	541208710	RCV000012920;	N	MedGen:C0342791,OMIM:212138,ORPHA:159,SNOMED CT:238003000	3	48921567	48921567	NM_000387.5:c.199-10T>G		NC_000003.11:g.48921567A>C	OMIM Allelic Variant:613698.0006	C0342791 212138 Carnitine acylcarnitine translocase deficiency
NM_000387.5(SLC25A20):c.106-2A>T	788	SLC25A20	Pathogenic	587777287	RCV000114403;	N	MedGen:C0342791,OMIM:212138,ORPHA:159,SNOMED CT:238003000	3	48929507	48929507	NM_000387.5:c.106-2A>T		NC_000003.11:g.48929507T>A	OMIM Allelic Variant:613698.0009	C0342791 212138 Carnitine acylcarnitine translocase deficiency
NM_000387.5(SLC25A20):c.84delT (p.His29Thrfs)	788	SLC25A20	Pathogenic	587776760	RCV000012919; RCV000186166;	N	MedGen:C0342791,OMIM:212138,ORPHA:159,SNOMED CT:238003000; MedGen:CN221809	3	48936144	48936144	NM_000387.5:c.84delT	NP_000378.1:p.His29Thrfs	NC_000003.11:g.48936144delA	OMIM Allelic Variant:613698.0005	C0342791 212138 Carnitine acylcarnitine translocase deficiency; CN221809 not provided