CACTD
MCID: CRN041
MIFTS: 48

Carnitine-Acylcarnitine Translocase Deficiency (CACTD)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Carnitine-Acylcarnitine Translocase Deficiency

MalaCards integrated aliases for Carnitine-Acylcarnitine Translocase Deficiency:

Name: Carnitine-Acylcarnitine Translocase Deficiency 57 12 73 20 43 58 72 36 13 44 15 70
Cact Deficiency 57 12 43 58 72
Carnitine Acylcarnitine Translocase Deficiency 43 29 6 39
Cactd 57 12 72
Carnitine-Acylcarnitine Carrier Deficiency 43

Characteristics:

Orphanet epidemiological data:

58
carnitine-acylcarnitine translocase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
carnitine-acylcarnitine translocase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Carnitine-Acylcarnitine Translocase Deficiency

GARD : 20 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 cact deficiency, is related to hypoglycemia and atrial standstill 1, and has symptoms including seizures and lethargy. An important gene associated with Carnitine-Acylcarnitine Translocase Deficiency is SLC25A20 (Solute Carrier Family 25 Member 20), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Fatty Acyl-CoA Biosynthesis. Affiliated tissues include skeletal muscle, liver and heart, and related phenotypes are hypotension and muscle weakness

Disease Ontology : 12 A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has material basis in homozygous or compound heterozygous mutation in SLC25A20 on chromosome 3p21.31.

MedlinePlus Genetics : 43 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).Many infants with CACT deficiency do not survive the newborn period. Some affected individuals have a less severe form of the condition and do not develop signs and symptoms until early childhood. These individuals are at risk for liver failure, nervous system damage, coma, and sudden death.

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) (Updated 20-May-2021)

KEGG : 36 Carnitine-acylcarnitine translocase (CACT) is located in the inner mitochondrial membrane and operates a carnitine-acylcarnitine exchange across this membrane. It is one of the key enzymes for transporting long-chain fatty acids into mitochondria. CACT deficiency is clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 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:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 hypoglycemia 30.9 SLC25A20 HADHA CPT2 CPT1A ACADVL
2 atrial standstill 1 30.3 SLC25A20 HADHA ACADVL
3 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 30.2 CPT2 ACADVL
4 carnitine palmitoyltransferase ii deficiency, infantile 29.3 SLC25A20 HADHA ETFDH CPT2 CPT1A ACADVL
5 carbonic anhydrase va deficiency, hyperammonemia due to 10.7
6 autosomal recessive disease 10.6
7 cardiac arrest 10.6
8 myopathy 10.5
9 sudden infant death syndrome 10.4
10 heart disease 10.4
11 hypotonia 10.4
12 ocular motor apraxia 10.2
13 metabolic acidosis 10.2
14 non-alcoholic fatty liver disease 10.2
15 pre-eclampsia 10.2
16 respiratory failure 10.2
17 nephrocalcinosis 10.2
18 eclampsia 10.2
19 hyperuricemia 10.2
20 liver disease 10.2
21 congestive heart failure 10.2
22 cardiogenic shock 10.2
23 myoglobinuria, recurrent 10.2 CPT2 ACADVL
24 3-hydroxyacyl-coa dehydrogenase deficiency 10.1 HADHA ACADVL
25 isovaleric acidemia 10.1 HADHA ACADVL
26 acyl-coa dehydrogenase deficiency 10.0 ETFDH ACADVL
27 3-methylcrotonyl-coa carboxylase deficiency 10.0 HADHA ACADVL
28 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.0
29 complement component 2 deficiency 10.0 HADHA ACADVL
30 reye syndrome 10.0 ETFDH CPT2
31 propionic acidemia 9.7 TMLHE HADHA CPT2 ACADVL
32 acyl-coa dehydrogenase, short-chain, deficiency of 9.7 HADHA ETFDH CPT2 ACADVL
33 carnitine palmitoyltransferase i deficiency 9.7 TMLHE HADHA CPT2 CPT1A ACADVL
34 acyl-coa dehydrogenase, medium-chain, deficiency of 9.6 SLC25A20 HADHA ETFDH CPT2 ACADVL
35 carnitine deficiency, systemic primary 9.6 SLC25A20 HADHA ETFDH CPT2 ACADVL
36 acyl-coa dehydrogenase, very long-chain, deficiency of 9.6 SLC25A20 HADHA ETFDH CPT2 ACADVL
37 mitochondrial trifunctional protein deficiency 9.6 SLC25A20 HADHA ETFDH CPT2 ACADVL
38 multiple acyl-coa dehydrogenase deficiency 9.6 SLC25A20 HADHA ETFDH CPT2 ACADVL
39 citrullinemia, classic 9.5 TMLHE HADHA ETFDH ACADVL

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

Human phenotypes related to Carnitine-Acylcarnitine Translocase Deficiency:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002615
2 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
3 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
4 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
5 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
6 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
7 irritability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000737
8 hyperammonemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001987
9 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
10 encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001298
11 cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001638
12 ventricular tachycardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004756
13 fasting hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003162
14 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
15 rhabdomyolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003201
16 decreased plasma carnitine 58 31 hallmark (90%) Very frequent (99-80%) HP:0003234
17 elevated creatine kinase after exercise 58 31 hallmark (90%) Very frequent (99-80%) HP:0008331
18 dicarboxylic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003215
19 elevated circulating acylcarnitine concentration 31 hallmark (90%) HP:0045045
20 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
21 hypothermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002045
22 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
23 hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001399
24 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
25 cyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000961
26 oliguria 58 31 occasional (7.5%) Occasional (29-5%) HP:0100520
27 preeclampsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100602
28 sudden episodic apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002882
29 seizure 31 occasional (7.5%) HP:0001250
30 seizures 58 Occasional (29-5%)
31 hypoglycemia 31 HP:0001943
32 elevated serum creatine kinase 31 HP:0003236
33 atrioventricular block 31 HP:0001678
34 arrhythmia 58 Very frequent (99-80%)
35 generalized hypotonia 31 HP:0001290
36 ventricular extrasystoles 31 HP:0006682
37 cardiorespiratory arrest 31 HP:0006543
38 bradycardia 31 HP:0001662
39 ventricular hypertrophy 31 HP:0001714
40 abnormality of skeletal muscles 58 Very frequent (99-80%)
41 elevated plasma acylcarnitine levels 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
irritability
lethargy
coma
hypotonia

Laboratory Abnormalities:
hyperammonemia
dicarboxylic aciduria
increased serum creatine kinase
abnormal liver enzymes
low free carnitine
more
Muscle Soft Tissue:
rhabdomyolysis
skeletal muscle damage

Metabolic Features:
hypoketotic hypoglycemia under fasting conditions

Respiratory:
respiratory insufficiency

Cardiovascular Heart:
cardiomyopathy
arrhythmias

Abdomen Liver:
hepatic dysfunction

Clinical features from OMIM®:

212138 (Updated 20-May-2021)

UMLS symptoms related to Carnitine-Acylcarnitine Translocase Deficiency:


seizures; lethargy

MGI Mouse Phenotypes related to Carnitine-Acylcarnitine Translocase Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.28 ACADVL ATOH7 CASP1 CPT1A CPT2 ETFDH

Drugs & Therapeutics for Carnitine-Acylcarnitine Translocase Deficiency

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

Cochrane evidence based reviews: 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:

40
Skeletal Muscle, Liver, Heart, Breast

Publications for Carnitine-Acylcarnitine Translocase Deficiency

Articles related to Carnitine-Acylcarnitine Translocase Deficiency:

(show top 50) (show all 80)
# Title Authors PMID Year
1
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals. 6 57 61
24088670 2013
2
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. 61 6 57
15365988 2004
3
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. 57 6 61
15057979 2004
4
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. 57 6
9399886 1997
5
Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. 6 57
1598097 1992
6
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. 6 61
25459972 2015
7
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. 61 6
25614308 2015
8
Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis. 61 6
21605995 2011
9
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. 6 61
17277394 2007
10
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. 61 6
16919490 2006
11
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. 57 61
15363639 2004
12
Carnitine-acylcarnitine translocase deficiency: case report and review of the literature. 6 61
12801121 2003
13
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. 6 61
12559850 2003
14
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. 61 6
11592821 2001
15
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. 61 6
11350184 2001
16
Functional analysis of mutant human carnitine acylcarnitine translocases in yeast. 6 61
11162577 2001
17
Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency. 6 61
10697964 2000
18
Carnitine-acylcarnitine translocase deficiency is a treatable disease. 57 61
10384385 1999
19
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. 57 61
9544911 1998
20
Carnitine-acylcarnitine translocase deficiency--a mild phenotype. 57 61
9323572 1997
21
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. 61 57
8739960 1996
22
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. 57 61
7564255 1995
23
Carnitine-acylcarnitine translocase deficiency: implications in human pathology. 57 61
8054358 1994
24
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. 57 61
7807931 1994
25
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. 57 61
8450053 1993
26
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review. 6
32340404 2020
27
SSIEM 2015 Annual Symposium : Lyon, France, August 2015. 6
26238931 2015
28
Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. 6
27066551 2015
29
A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. 6
12859414 2003
30
Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency. 6
10384384 1999
31
Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient. 6
9686371 1998
32
Inherited cardiomyopathies. 57
8114864 1994
33
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders. 61
33085788 2021
34
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches. 61
33634872 2021
35
Use of skimmed breast milk for an infant with a long-chain fatty acid oxidation disorder: A novel therapeutic intervention. 61
32905135 2020
36
A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data. 61
33420018 2020
37
A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data. 61
32337051 2020
38
Late-Onset Carnitine-Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy. 61
33194920 2020
39
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening. 61
31575911 2019
40
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China. 61
31108048 2019
41
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. 61
31241292 2019
42
[Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G]. 61
29996190 2018
43
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency. 61
28689308 2018
44
Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review. 61
29137068 2017
45
Expanded newborn metabolic screening programme in Hong Kong: a three-year journey. 61
28862145 2017
46
Sudden infant death from neonate carnitine palmitoyl transferase II deficiency. 61
28739175 2017
47
A novel method for determining peroxisomal fatty acid β-oxidation. 61
27324171 2016
48
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations. 61
24992243 2014
49
Fatty Acid oxidation disorders in a chinese population in taiwan. 61
23700290 2013
50
PGC-1β regulates mouse carnitine-acylcarnitine translocase through estrogen-related receptor α. 61
22713466 2012

Variations for Carnitine-Acylcarnitine Translocase Deficiency

ClinVar genetic disease variations for Carnitine-Acylcarnitine Translocase Deficiency:

6 (show top 50) (show all 79)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A20 NM_000387.6(SLC25A20):c.200_326+1del Deletion Pathogenic 12133 rs1553686314 GRCh37: 3:48921429-48921556
GRCh38: 3:48883996-48884123
2 SLC25A20 SLC25A20, 110-BP DEL Deletion Pathogenic 12134 GRCh37:
GRCh38:
3 SLC25A20 NM_000387.6(SLC25A20):c.576G>A (p.Trp192Ter) SNV Pathogenic 126507 rs587777286 GRCh37: 3:48897020-48897020
GRCh38: 3:48859587-48859587
4 SLC25A20 NM_000387.6(SLC25A20):c.106-2A>T SNV Pathogenic 126508 rs587777287 GRCh37: 3:48929507-48929507
GRCh38: 3:48892074-48892074
5 SLC25A20 NM_000387.6(SLC25A20):c.292A>T (p.Lys98Ter) SNV Pathogenic 460439 rs1553686321 GRCh37: 3:48921464-48921464
GRCh38: 3:48884031-48884031
6 SLC25A20 NM_000387.6(SLC25A20):c.691G>C (p.Asp231His) SNV Pathogenic 646763 rs577331691 GRCh37: 3:48896552-48896552
GRCh38: 3:48859119-48859119
7 SLC25A20 NM_000387.6(SLC25A20):c.160_163delinsTGGG (p.Gly54_Thr55delinsTrpAla) Indel Pathogenic 969359 GRCh37: 3:48929448-48929451
GRCh38: 3:48892015-48892018
8 SLC25A20 NM_000387.6(SLC25A20):c.505dup (p.Tyr169fs) Duplication Pathogenic 460440 rs1553684897 GRCh37: 3:48900004-48900005
GRCh38: 3:48862571-48862572
9 SLC25A20 NM_000387.6(SLC25A20):c.496C>T (p.Arg166Ter) SNV Pathogenic 12135 rs151340616 GRCh37: 3:48900014-48900014
GRCh38: 3:48862581-48862581
10 SLC25A20 NM_000387.6(SLC25A20):c.84del (p.His29fs) Deletion Pathogenic 12136 rs587776760 GRCh37: 3:48936144-48936144
GRCh38: 3:48898711-48898711
11 SLC25A20 NM_000387.6(SLC25A20):c.199-10T>G SNV Pathogenic 12137 rs541208710 GRCh37: 3:48921567-48921567
GRCh38: 3:48884134-48884134
12 SLC25A20 NM_000387.6(SLC25A20):c.270del (p.Phe91fs) Deletion Pathogenic 830060 rs1575989549 GRCh37: 3:48921486-48921486
GRCh38: 3:48884053-48884053
13 SLC25A20 NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter) SNV Pathogenic 545967 rs778220325 GRCh37: 3:48899978-48899978
GRCh38: 3:48862545-48862545
14 SLC25A20 NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter) SNV Pathogenic 203941 rs756998699 GRCh37: 3:48936218-48936218
GRCh38: 3:48898785-48898785
15 SLC25A20 NM_000387.6(SLC25A20):c.326+1del Deletion Pathogenic 345943 rs757552268 GRCh37: 3:48921429-48921429
GRCh38: 3:48883996-48883996
16 SLC25A20 NM_000387.6(SLC25A20):c.244del (p.Val82fs) Deletion Pathogenic 1028225 GRCh37: 3:48921512-48921512
GRCh38: 3:48884079-48884079
17 SLC25A20 NM_000387.6(SLC25A20):c.897dup (p.Asn300fs) Duplication Pathogenic 12132 rs587776759 GRCh37: 3:48895151-48895152
GRCh38: 3:48857718-48857719
18 SLC25A20 NM_000387.6(SLC25A20):c.713A>G (p.Gln238Arg) SNV Pathogenic 12138 rs28934589 GRCh37: 3:48896530-48896530
GRCh38: 3:48859097-48859097
19 SLC25A20 NM_000387.6(SLC25A20):c.804del (p.Phe269fs) Deletion Pathogenic/Likely pathogenic 639496 rs753414360 GRCh37: 3:48895979-48895979
GRCh38: 3:48858546-48858546
20 SLC25A20 NM_000387.6(SLC25A20):c.536A>G (p.Asp179Gly) SNV Likely pathogenic 596613 rs1205051168 GRCh37: 3:48897060-48897060
GRCh38: 3:48859627-48859627
21 SLC25A20 NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp) SNV Likely pathogenic 932183 GRCh37: 3:48916811-48916811
GRCh38: 3:48879378-48879378
22 SLC25A20 NM_000387.6(SLC25A20):c.198+2T>C SNV Likely pathogenic 936127 GRCh37: 3:48929411-48929411
GRCh38: 3:48891978-48891978
23 SLC25A20 NM_000387.6(SLC25A20):c.535+6C>T SNV Conflicting interpretations of pathogenicity 529871 rs199770033 GRCh37: 3:48899969-48899969
GRCh38: 3:48862536-48862536
24 SLC25A20 NM_000387.6(SLC25A20):c.779_781del (p.Glu260del) Deletion Uncertain significance 345940 rs754871147 GRCh37: 3:48896002-48896004
GRCh38: 3:48858569-48858571
25 SLC25A20 NM_000387.6(SLC25A20):c.364G>A (p.Val122Ile) SNV Uncertain significance 861982 GRCh37: 3:48916844-48916844
GRCh38: 3:48879411-48879411
26 SLC25A20 NM_000387.6(SLC25A20):c.364G>C (p.Val122Leu) SNV Uncertain significance 933674 GRCh37: 3:48916844-48916844
GRCh38: 3:48879411-48879411
27 SLC25A20 NM_000387.6(SLC25A20):c.327-6A>G SNV Uncertain significance 966443 GRCh37: 3:48916887-48916887
GRCh38: 3:48879454-48879454
28 SLC25A20 NM_000387.6(SLC25A20):c.682A>G (p.Ile228Val) SNV Uncertain significance 1035987 GRCh37: 3:48896561-48896561
GRCh38: 3:48859128-48859128
29 SLC25A20 NM_000387.6(SLC25A20):c.88C>T (p.Pro30Ser) SNV Uncertain significance 853592 GRCh37: 3:48936140-48936140
GRCh38: 3:48898707-48898707
30 SLC25A20 NM_000387.6(SLC25A20):c.752A>G (p.Asp251Gly) SNV Uncertain significance 949534 GRCh37: 3:48896031-48896031
GRCh38: 3:48858598-48858598
31 SLC25A20 NM_000387.6(SLC25A20):c.226G>C (p.Ala76Pro) SNV Uncertain significance 651841 rs150516570 GRCh37: 3:48921530-48921530
GRCh38: 3:48884097-48884097
32 SLC25A20 NM_000387.6(SLC25A20):c.721C>A (p.Pro241Thr) SNV Uncertain significance 1001568 GRCh37: 3:48896062-48896062
GRCh38: 3:48858629-48858629
33 SLC25A20 NM_000387.6(SLC25A20):c.658G>A (p.Gly220Arg) SNV Uncertain significance 932184 GRCh37: 3:48896585-48896585
GRCh38: 3:48859152-48859152
34 SLC25A20 NM_000387.6(SLC25A20):c.596C>T (p.Pro199Leu) SNV Uncertain significance 655551 rs775269347 GRCh37: 3:48897000-48897000
GRCh38: 3:48859567-48859567
35 SLC25A20 NM_000387.6(SLC25A20):c.668A>G (p.Asn223Ser) SNV Uncertain significance 656680 rs374770429 GRCh37: 3:48896575-48896575
GRCh38: 3:48859142-48859142
36 SLC25A20 NM_000387.6(SLC25A20):c.198+9A>G SNV Uncertain significance 571525 rs896736499 GRCh37: 3:48929404-48929404
GRCh38: 3:48891971-48891971
37 SLC25A20 NM_000387.6(SLC25A20):c.*359C>T SNV Uncertain significance 345935 rs116681393 GRCh37: 3:48894784-48894784
GRCh38: 3:48857351-48857351
38 SLC25A20 NM_000387.6(SLC25A20):c.88C>G (p.Pro30Ala) SNV Uncertain significance 578404 rs780569251 GRCh37: 3:48936140-48936140
GRCh38: 3:48898707-48898707
39 SLC25A20 NM_000387.5(SLC25A20):c.-195A>C SNV Uncertain significance 345952 rs886058661 GRCh37: 3:48936422-48936422
GRCh38: 3:48898989-48898989
40 SLC25A20 NM_000387.5(SLC25A20):c.-116C>A SNV Uncertain significance 345950 rs566770224 GRCh37: 3:48936343-48936343
GRCh38: 3:48898910-48898910
41 SLC25A20 NM_000387.5(SLC25A20):c.-130C>G SNV Uncertain significance 345951 rs150795620 GRCh37: 3:48936357-48936357
GRCh38: 3:48898924-48898924
42 SLC25A20 NM_000387.6(SLC25A20):c.425C>G (p.Ala142Gly) SNV Uncertain significance 587448 rs759262977 GRCh37: 3:48900085-48900085
GRCh38: 3:48862652-48862652
43 SLC25A20 NM_000387.6(SLC25A20):c.-2C>A SNV Uncertain significance 345944 rs368937335 GRCh37: 3:48936229-48936229
GRCh38: 3:48898796-48898796
44 SLC25A20 NM_000387.6(SLC25A20):c.*782T>C SNV Uncertain significance 345927 rs76087816 GRCh37: 3:48894361-48894361
GRCh38: 3:48856928-48856928
45 SLC25A20 NM_000387.6(SLC25A20):c.-71G>C SNV Uncertain significance 345948 rs886058660 GRCh37: 3:48936298-48936298
GRCh38: 3:48898865-48898865
46 SLC25A20 NM_000387.6(SLC25A20):c.-9G>C SNV Uncertain significance 345945 rs770135555 GRCh37: 3:48936236-48936236
GRCh38: 3:48898803-48898803
47 SLC25A20 NM_000387.6(SLC25A20):c.*476G>T SNV Uncertain significance 345934 rs545212823 GRCh37: 3:48894667-48894667
GRCh38: 3:48857234-48857234
48 SLC25A20 NM_000387.6(SLC25A20):c.*115G>A SNV Uncertain significance 345938 rs886058658 GRCh37: 3:48895028-48895028
GRCh38: 3:48857595-48857595
49 SLC25A20 NM_000387.6(SLC25A20):c.*577dup Duplication Uncertain significance 345932 rs533476473 GRCh37: 3:48894565-48894566
GRCh38: 3:48857132-48857133
50 SLC25A20 NM_000387.6(SLC25A20):c.*577del Deletion Uncertain significance 345933 rs533476473 GRCh37: 3:48894566-48894566
GRCh38: 3:48857133-48857133

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

72
# 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

Expression for Carnitine-Acylcarnitine Translocase Deficiency

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

Pathways for Carnitine-Acylcarnitine Translocase Deficiency

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 mitochondrial matrix GO:0005759 9.46 TMLHE ETFDH ACADVL ABCE1
2 mitochondrial inner membrane GO:0005743 9.35 SLC25A20 HADHA ETFDH CPT2 ACADVL
3 mitochondrion GO:0005739 9.28 TMLHE SLC25A20 HADHA ETFDH CPT2 CPT1A

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

# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.77 TSG101 TRIM5 PPIA NUP153 ABCE1
2 fatty acid metabolic process GO:0006631 9.46 HADHA CPT2 CPT1A ACADVL
3 long-chain fatty acid metabolic process GO:0001676 9.43 CPT2 CPT1A
4 viral life cycle GO:0019058 9.4 TSG101 PPIA
5 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.32 ETFDH ACADVL
6 carnitine metabolic process GO:0009437 9.26 CPT2 CPT1A
7 carnitine shuttle GO:0006853 9.13 SLC25A20 CPT2 CPT1A
8 fatty acid beta-oxidation GO:0006635 8.92 HADHA CPT2 CPT1A ACADVL

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

# Name GO ID Score Top Affiliating Genes
1 fatty-acyl-CoA binding GO:0000062 9.16 HADHA ACADVL
2 virion binding GO:0046790 8.96 TSG101 PPIA
3 carnitine O-palmitoyltransferase activity GO:0004095 8.62 CPT2 CPT1A

Sources for Carnitine-Acylcarnitine Translocase 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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