MCID: CRN041
MIFTS: 43

Carnitine-Acylcarnitine Translocase Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Carnitine-Acylcarnitine Translocase Deficiency

MalaCards integrated aliases for Carnitine-Acylcarnitine Translocase Deficiency:

Name: Carnitine-Acylcarnitine Translocase Deficiency 57 76 53 25 59 75 37 13 73
Carnitine Acylcarnitine Translocase Deficiency 25 29 6 40
Cact Deficiency 57 25 59 75
Cactd 57 75
Carnitine-Acylcarnitine Carrier Deficiency 25

Characteristics:

Orphanet epidemiological data:

59
carnitine-acylcarnitine translocase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in the neonatal period
early death may occur
later onset with a milder phenotype may also occur


HPO:

32
carnitine-acylcarnitine translocase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Carnitine-Acylcarnitine Translocase Deficiency

NIH Rare Diseases : 53 Carnitine-acylcarnitine translocase (CACT) deficiency is a disease that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting). Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter (CACT) that disrupts carnitine's role in processing long-chain fatty acids. There are two forms of carnitine-acylcarnitine translocase deficiency. The most common type is severe and happens in newborns. A milder, less common type happens in older infants and children. Most patients with CACT deficiency have a severe disease presenting within the first 48 hours of life as low blood sugar with ketonic bodies (hypoketotic hypoglycemia), high ammonia (hyperammonemia) levels in the blood, increased heart muscle (cardiomyopathy), and abnormal heart rhythm (arrhythmias), as well as skeletal muscle damage, liver problems, and low temperature (hypothermia). Neurological involvement, seizures, and developmental delay are also present. Rarely, patients present as a sudden infant death. The CACT deficiency is caused by mutations in the SLC25A20 gene. Treatment is done by avoiding fasting and having a low long-chain fat diet with medium chain triglyceride (MCT) supplementation.  Carnitine-acylcarnitine translocase deficiency is a type of fatty acid oxidation disorder. 

MalaCards based summary : Carnitine-Acylcarnitine Translocase Deficiency, also known as carnitine acylcarnitine translocase deficiency, is related to hypoglycemia and cardiac arrest, and has symptoms including lethargy and seizures. An important gene associated with Carnitine-Acylcarnitine Translocase Deficiency is SLC25A20 (Solute Carrier Family 25 Member 20), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). Affiliated tissues include liver, skeletal muscle and heart, and related phenotypes are nystagmus and seizures

OMIM : 57 Carnitine-acylcarnitine translocase deficiency is a rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy and arrhythmias, skeletal muscle damage, and liver dysfunction. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate. However, presentations at a later age with a milder phenotype have been reported (summary by Rubio-Gozalbo et al., 2004). (212138)

UniProtKB/Swiss-Prot : 75 Carnitine-acylcarnitine translocase deficiency: A rare long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate.

Genetics Home Reference : 25 Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia). Affected individuals typically have low blood sugar (hypoglycemia) and a low level of ketones, which are produced during the breakdown of fats and used for energy. Together these signs are called hypoketotic hypoglycemia. People with CACT deficiency also usually have excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a weakened heart muscle (cardiomyopathy).

Wikipedia : 76 Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that... more...

Related Diseases for Carnitine-Acylcarnitine Translocase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 hypoglycemia 28.2 CPT1A CPT2 SLC25A20
2 cardiac arrest 10.2
3 pre-eclampsia 10.2
4 eclampsia 10.2
5 cardiogenic shock 10.2
6 carnitine deficiency, systemic primary 9.5 CPT2 SLC25A20
7 acyl-coa dehydrogenase, very long-chain, deficiency of 9.2 CPT2 SLC25A20
8 carnitine palmitoyltransferase ii deficiency, infantile 8.7 CPT1A CPT2 SLC25A20

Graphical network of the top 20 diseases related to Carnitine-Acylcarnitine Translocase Deficiency:



Diseases related to Carnitine-Acylcarnitine Translocase Deficiency

Symptoms & Phenotypes for Carnitine-Acylcarnitine Translocase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
irritability
coma
lethargy
hypotonia

Cardiovascular Heart:
cardiomyopathy
arrhythmias

Muscle Soft Tissue:
rhabdomyolysis
skeletal muscle damage

Metabolic Features:
hypoketotic hypoglycemia under fasting conditions

Respiratory:
respiratory insufficiency

Laboratory Abnormalities:
hyperammonemia
dicarboxylic aciduria
increased serum creatine kinase
abnormal liver enzymes
low free carnitine
more
Abdomen Liver:
hepatic dysfunction


Clinical features from OMIM:

212138

Human phenotypes related to Carnitine-Acylcarnitine Translocase Deficiency:

59 32 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
4 hypothermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002045
5 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
6 hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002615
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
9 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
10 irritability 59 32 hallmark (90%) Very frequent (99-80%) HP:0000737
11 elevated hepatic transaminases 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
12 cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001638
13 coma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001259
14 hepatic failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001399
15 hyperammonemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001987
16 preeclampsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100602
17 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
18 encephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001298
19 elevated creatine kinase after exercise 59 32 hallmark (90%) Very frequent (99-80%) HP:0008331
20 cyanosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000961
21 oliguria 59 32 occasional (7.5%) Occasional (29-5%) HP:0100520
22 ventricular tachycardia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004756
23 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
24 fasting hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003162
25 abnormality of skeletal muscles 59 32 hallmark (90%) Very frequent (99-80%) HP:0040290
26 rhabdomyolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003201
27 dicarboxylic aciduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0003215
28 decreased plasma carnitine 59 32 hallmark (90%) Very frequent (99-80%) HP:0003234
29 elevated plasma acylcarnitine levels 59 32 hallmark (90%) Very frequent (99-80%) HP:0045045
30 sudden episodic apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002882
31 atrioventricular block 32 HP:0001678
32 elevated serum creatine phosphokinase 32 HP:0003236
33 arrhythmia 59 Very frequent (99-80%)
34 hypoglycemia 32 HP:0001943
35 generalized hypotonia 32 HP:0001290
36 ventricular extrasystoles 32 HP:0006682
37 ventricular hypertrophy 32 HP:0001714
38 cardiorespiratory arrest 32 HP:0006543
39 bradycardia 32 HP:0001662

UMLS symptoms related to Carnitine-Acylcarnitine Translocase Deficiency:


lethargy, seizures

MGI Mouse Phenotypes related to Carnitine-Acylcarnitine Translocase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 8.8 CPT2 SLC25A20 CPT1A

Drugs & Therapeutics for Carnitine-Acylcarnitine Translocase Deficiency

Search Clinical Trials , NIH Clinical Center for Carnitine-Acylcarnitine Translocase Deficiency

Genetic Tests for Carnitine-Acylcarnitine Translocase Deficiency

Genetic tests related to Carnitine-Acylcarnitine Translocase Deficiency:

# Genetic test Affiliating Genes
1 Carnitine Acylcarnitine Translocase Deficiency 29 SLC25A20

Anatomical Context for Carnitine-Acylcarnitine Translocase Deficiency

MalaCards organs/tissues related to Carnitine-Acylcarnitine Translocase Deficiency:

41
Liver, Skeletal Muscle, Heart, Testes

Publications for Carnitine-Acylcarnitine Translocase Deficiency

Articles related to Carnitine-Acylcarnitine Translocase Deficiency:

(show all 33)
# Title Authors Year
1
Carnitine-acylcarnitine translocase deficiency with c.199-10 T&amp;gt;G and novel c.1A&amp;gt;G mutation: Two case reports and brief literature review. ( 29137068 )
2017
2
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency. ( 28689308 )
2017
3
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. ( 25614308 )
2015
4
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. ( 25459972 )
2014
5
Carnitine-acylcarnitine translocase deficiency. Clinical course of 3 Saudi children with a severe phenotype. ( 21301774 )
2011
6
Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype. ( 20714679 )
2010
7
Prospective treatment in carnitine-acylcarnitine translocase deficiency. ( 17508264 )
2007
8
Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency. ( 17578469 )
2007
9
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. ( 17277394 )
2007
10
Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient. ( 15159657 )
2004
11
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. ( 15363639 )
2004
12
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. ( 15365988 )
2004
13
Carnitine-acylcarnitine translocase deficiency: case report and review of the literature. ( 12801121 )
2003
14
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. ( 12559850 )
2003
15
[Carnitine acylcarnitine translocase deficiency]. ( 12013981 )
2002
16
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. ( 11592821 )
2001
17
[Carnitine acylcarnitine translocase deficiency]. ( 11596450 )
2001
18
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. ( 11271379 )
2001
19
Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency. ( 11826365 )
2001
20
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. ( 11350184 )
2001
21
Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. ( 10653336 )
2000
22
Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle. ( 10876004 )
2000
23
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatment. ( 10472533 )
1999
24
Carnitine-acylcarnitine translocase deficiency. ( 10408757 )
1999
25
Carnitine-acylcarnitine translocase deficiency is a treatable disease. ( 10384385 )
1999
26
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. ( 9544911 )
1998
27
Carnitine-acylcarnitine translocase deficiency--a mild phenotype. ( 9323572 )
1997
28
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death. ( 9290607 )
1997
29
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. ( 8739960 )
1996
30
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. ( 7564255 )
1995
31
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. ( 7807931 )
1994
32
Carnitine-acylcarnitine translocase deficiency: implications in human pathology. ( 8054358 )
1994
33
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. ( 8450053 )
1993

Variations for Carnitine-Acylcarnitine Translocase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Carnitine-Acylcarnitine Translocase Deficiency:

75
# Symbol AA change Variation ID SNP ID
1 SLC25A20 p.Arg133Trp VAR_021818 rs748394731
2 SLC25A20 p.Asp231His VAR_021819 rs577331691
3 SLC25A20 p.Gln238Arg VAR_021820 rs28934589

ClinVar genetic disease variations for Carnitine-Acylcarnitine Translocase Deficiency:

6
(show top 50) (show all 69)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A20 NM_000387.5(SLC25A20): c.897dupC (p.Asn300Glnfs) duplication Pathogenic rs587776759 GRCh37 Chromosome 3, 48895152: 48895152
2 SLC25A20 NM_000387.5(SLC25A20): c.897dupC (p.Asn300Glnfs) duplication Pathogenic rs587776759 GRCh38 Chromosome 3, 48857719: 48857719
3 SLC25A20 NM_000387.5(SLC25A20): c.199_326del128 (p.Gly67Leufs) deletion Pathogenic GRCh38 Chromosome 3, 48883997: 48884124
4 SLC25A20 NM_000387.5(SLC25A20): c.199_326del128 (p.Gly67Leufs) deletion Pathogenic GRCh37 Chromosome 3, 48921430: 48921557
5 SLC25A20 SLC25A20, 110-BP DEL deletion Pathogenic
6 SLC25A20 NM_000387.5(SLC25A20): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs151340616 GRCh37 Chromosome 3, 48900014: 48900014
7 SLC25A20 NM_000387.5(SLC25A20): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs151340616 GRCh38 Chromosome 3, 48862581: 48862581
8 SLC25A20 NM_000387.5(SLC25A20): c.84delT (p.His29Thrfs) deletion Pathogenic rs587776760 GRCh37 Chromosome 3, 48936144: 48936144
9 SLC25A20 NM_000387.5(SLC25A20): c.84delT (p.His29Thrfs) deletion Pathogenic rs587776760 GRCh38 Chromosome 3, 48898711: 48898711
10 SLC25A20 NM_000387.5(SLC25A20): c.199-10T> G single nucleotide variant Pathogenic rs541208710 GRCh37 Chromosome 3, 48921567: 48921567
11 SLC25A20 NM_000387.5(SLC25A20): c.199-10T> G single nucleotide variant Pathogenic rs541208710 GRCh38 Chromosome 3, 48884134: 48884134
12 SLC25A20 NM_000387.5(SLC25A20): c.713A> G (p.Gln238Arg) single nucleotide variant Pathogenic rs28934589 GRCh37 Chromosome 3, 48896530: 48896530
13 SLC25A20 NM_000387.5(SLC25A20): c.713A> G (p.Gln238Arg) single nucleotide variant Pathogenic rs28934589 GRCh38 Chromosome 3, 48859097: 48859097
14 SLC25A20 NM_000387.5(SLC25A20): c.576G> A (p.Trp192Ter) single nucleotide variant Pathogenic rs587777286 GRCh37 Chromosome 3, 48897020: 48897020
15 SLC25A20 NM_000387.5(SLC25A20): c.576G> A (p.Trp192Ter) single nucleotide variant Pathogenic rs587777286 GRCh38 Chromosome 3, 48859587: 48859587
16 SLC25A20 NM_000387.5(SLC25A20): c.106-2A> T single nucleotide variant Pathogenic rs587777287 GRCh37 Chromosome 3, 48929507: 48929507
17 SLC25A20 NM_000387.5(SLC25A20): c.106-2A> T single nucleotide variant Pathogenic rs587777287 GRCh38 Chromosome 3, 48892074: 48892074
18 SLC25A20 NM_000387.5(SLC25A20): c.773G> A (p.Arg258Gln) single nucleotide variant Benign/Likely benign rs35989076 GRCh37 Chromosome 3, 48896010: 48896010
19 SLC25A20 NM_000387.5(SLC25A20): c.773G> A (p.Arg258Gln) single nucleotide variant Benign/Likely benign rs35989076 GRCh38 Chromosome 3, 48858577: 48858577
20 SLC25A20 NM_000387.5(SLC25A20): c.*782T> C single nucleotide variant Uncertain significance rs76087816 GRCh38 Chromosome 3, 48856928: 48856928
21 SLC25A20 NM_000387.5(SLC25A20): c.*782T> C single nucleotide variant Uncertain significance rs76087816 GRCh37 Chromosome 3, 48894361: 48894361
22 SLC25A20 NM_000387.5(SLC25A20): c.*577delT deletion Uncertain significance rs533476473 GRCh38 Chromosome 3, 48857133: 48857133
23 SLC25A20 NM_000387.5(SLC25A20): c.*577delT deletion Uncertain significance rs533476473 GRCh37 Chromosome 3, 48894566: 48894566
24 SLC25A20 NM_000387.5(SLC25A20): c.*476G> T single nucleotide variant Uncertain significance rs545212823 GRCh38 Chromosome 3, 48857234: 48857234
25 SLC25A20 NM_000387.5(SLC25A20): c.*476G> T single nucleotide variant Uncertain significance rs545212823 GRCh37 Chromosome 3, 48894667: 48894667
26 SLC25A20 NM_000387.5(SLC25A20): c.779_781delAAG (p.Glu260del) deletion Uncertain significance rs754871147 GRCh38 Chromosome 3, 48858569: 48858571
27 SLC25A20 NM_000387.5(SLC25A20): c.779_781delAAG (p.Glu260del) deletion Uncertain significance rs754871147 GRCh37 Chromosome 3, 48896002: 48896004
28 SLC25A20 NM_000387.5(SLC25A20): c.358T> C (p.Ser120Pro) single nucleotide variant Uncertain significance rs149174359 GRCh38 Chromosome 3, 48879417: 48879417
29 SLC25A20 NM_000387.5(SLC25A20): c.358T> C (p.Ser120Pro) single nucleotide variant Uncertain significance rs149174359 GRCh37 Chromosome 3, 48916850: 48916850
30 SLC25A20 NM_000387.5(SLC25A20): c.-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs542582794 GRCh38 Chromosome 3, 48898806: 48898806
31 SLC25A20 NM_000387.5(SLC25A20): c.-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs542582794 GRCh37 Chromosome 3, 48936239: 48936239
32 SLC25A20 NM_000387.5(SLC25A20): c.-80G> C single nucleotide variant Uncertain significance rs551279923 GRCh38 Chromosome 3, 48898874: 48898874
33 SLC25A20 NM_000387.5(SLC25A20): c.-80G> C single nucleotide variant Uncertain significance rs551279923 GRCh37 Chromosome 3, 48936307: 48936307
34 SLC25A20 NM_000387.5(SLC25A20): c.-130C> G single nucleotide variant Uncertain significance rs150795620 GRCh38 Chromosome 3, 48898924: 48898924
35 SLC25A20 NM_000387.5(SLC25A20): c.-130C> G single nucleotide variant Uncertain significance rs150795620 GRCh37 Chromosome 3, 48936357: 48936357
36 SLC25A20 NM_000387.5(SLC25A20): c.-195A> C single nucleotide variant Uncertain significance rs886058661 GRCh38 Chromosome 3, 48898989: 48898989
37 SLC25A20 NM_000387.5(SLC25A20): c.-195A> C single nucleotide variant Uncertain significance rs886058661 GRCh37 Chromosome 3, 48936422: 48936422
38 SLC25A20 NM_000387.5(SLC25A20): c.*357C> T single nucleotide variant Uncertain significance rs78776342 GRCh38 Chromosome 3, 48857353: 48857353
39 SLC25A20 NM_000387.5(SLC25A20): c.*357C> T single nucleotide variant Uncertain significance rs78776342 GRCh37 Chromosome 3, 48894786: 48894786
40 SLC25A20 NM_000387.5(SLC25A20): c.*274C> T single nucleotide variant Uncertain significance rs553907104 GRCh38 Chromosome 3, 48857436: 48857436
41 SLC25A20 NM_000387.5(SLC25A20): c.*274C> T single nucleotide variant Uncertain significance rs553907104 GRCh37 Chromosome 3, 48894869: 48894869
42 SLC25A20 NM_000387.5(SLC25A20): c.-2C> A single nucleotide variant Uncertain significance rs368937335 GRCh38 Chromosome 3, 48898796: 48898796
43 SLC25A20 NM_000387.5(SLC25A20): c.-2C> A single nucleotide variant Uncertain significance rs368937335 GRCh37 Chromosome 3, 48936229: 48936229
44 SLC25A20 NM_000387.5(SLC25A20): c.-9G> C single nucleotide variant Uncertain significance rs770135555 GRCh38 Chromosome 3, 48898803: 48898803
45 SLC25A20 NM_000387.5(SLC25A20): c.-9G> C single nucleotide variant Uncertain significance rs770135555 GRCh37 Chromosome 3, 48936236: 48936236
46 SLC25A20 NM_000387.5(SLC25A20): c.*359C> T single nucleotide variant Uncertain significance rs116681393 GRCh38 Chromosome 3, 48857351: 48857351
47 SLC25A20 NM_000387.5(SLC25A20): c.*359C> T single nucleotide variant Uncertain significance rs116681393 GRCh37 Chromosome 3, 48894784: 48894784
48 SLC25A20 NM_000387.5(SLC25A20): c.326+1delG deletion Pathogenic/Likely pathogenic rs757552268 GRCh37 Chromosome 3, 48921429: 48921429
49 SLC25A20 NM_000387.5(SLC25A20): c.326+1delG deletion Pathogenic/Likely pathogenic rs757552268 GRCh38 Chromosome 3, 48883996: 48883996
50 SLC25A20 NM_000387.5(SLC25A20): c.-116C> A single nucleotide variant Uncertain significance rs566770224 GRCh38 Chromosome 3, 48898910: 48898910

Expression for Carnitine-Acylcarnitine Translocase Deficiency

Search GEO for disease gene expression data for Carnitine-Acylcarnitine Translocase Deficiency.

Pathways for Carnitine-Acylcarnitine Translocase Deficiency

Pathways related to Carnitine-Acylcarnitine Translocase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 CPT1A CPT2 SLC25A20
2
Show member pathways
12.21 CPT1A CPT2 SLC25A20
3
Show member pathways
11.64 CPT1A CPT2
4
Show member pathways
11.33 CPT1A CPT2
5 11.18 CPT1A CPT2
6
Show member pathways
10.86 CPT1A CPT2 SLC25A20
7 10.57 CPT1A CPT2
8 9.84 CPT1A CPT2 SLC25A20

GO Terms for Carnitine-Acylcarnitine Translocase Deficiency

Cellular components related to Carnitine-Acylcarnitine Translocase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.13 CPT1A CPT2 SLC25A20
2 mitochondrial inner membrane GO:0005743 8.8 CPT1A CPT2 SLC25A20

Biological processes related to Carnitine-Acylcarnitine Translocase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.32 CPT1A CPT2
2 fatty acid metabolic process GO:0006631 9.26 CPT1A CPT2
3 regulation of lipid metabolic process GO:0019216 9.16 CPT1A CPT2
4 fatty acid beta-oxidation GO:0006635 8.96 CPT1A CPT2
5 carnitine shuttle GO:0006853 8.8 CPT1A CPT2 SLC25A20

Molecular functions related to Carnitine-Acylcarnitine Translocase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 8.96 CPT1A CPT2
2 carnitine O-palmitoyltransferase activity GO:0004095 8.62 CPT1A CPT2

Sources for Carnitine-Acylcarnitine Translocase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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