CACTD
MCID: CRN041
MIFTS: 45

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 75 53 25 59 74 37 13 72
Carnitine Acylcarnitine Translocase Deficiency 25 29 6 40
Cact Deficiency 57 25 59 74
Cactd 57 74
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


External Ids:

OMIM 57 212138
KEGG 37 H01983
MeSH 44 D008052
ICD10 via Orphanet 34 E71.3
UMLS via Orphanet 73 C0342791
Orphanet 59 ORPHA159
MedGen 42 C0342791
UMLS 72 C0342791

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 carnitine palmitoyltransferase ii deficiency, infantile, 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 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). The drug carnitine has been mentioned in the context of this disorder. Affiliated tissues include liver, skeletal muscle and heart, and related phenotypes are muscle weakness and respiratory insufficiency

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). 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)

KEGG : 37
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 : 74 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 : 75 Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that... more...

Related Diseases for Carnitine-Acylcarnitine Translocase Deficiency

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:

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

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

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 8.8 CPT1A CPT2 SLC25A20

Drugs & Therapeutics for Carnitine-Acylcarnitine Translocase Deficiency

Drugs for Carnitine-Acylcarnitine Translocase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 carnitine Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label Long-Term Safety and Efficacy Extension Study in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Previously Enrolled in UX007 or Triheptanoin Studies Enrolling by invitation NCT02214160 Phase 2 UX007

Search 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 top 50) (show all 59)
# Title Authors PMID Year
1
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals. 8 71
24088670 2013
2
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. 8 71
15057979 2004
3
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. 8 71
9399886 1997
4
Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. 8 71
1598097 1992
5
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. 38 8
15363639 2004
6
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. 38 8
15365988 2004
7
Carnitine-acylcarnitine translocase deficiency is a treatable disease. 38 8
10384385 1999
8
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. 38 8
9544911 1998
9
Carnitine-acylcarnitine translocase deficiency--a mild phenotype. 38 8
9323572 1997
10
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. 38 8
8739960 1996
11
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. 38 8
7564255 1995
12
Carnitine-acylcarnitine translocase deficiency: implications in human pathology. 38 8
8054358 1994
13
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. 38 8
7807931 1994
14
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. 38 8
8450053 1993
15
A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. 71
12859414 2003
16
Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency. 71
10697964 2000
17
Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency. 71
10384384 1999
18
Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient. 71
9686371 1998
19
Inherited cardiomyopathies. 8
8114864 1994
20
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China. 38
31108048 2019
21
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. 38
31241292 2019
22
[Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G]. 38
29996190 2018
23
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency. 38
28689308 2018
24
Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review. 38
29137068 2017
25
Expanded newborn metabolic screening programme in Hong Kong: a three-year journey. 38
28862145 2017
26
Sudden infant death from neonate carnitine palmitoyl transferase II deficiency. 38
28739175 2017
27
A novel method for determining peroxisomal fatty acid β-oxidation. 38
27324171 2016
28
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. 38
25459972 2015
29
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. 38
25614308 2015
30
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations. 38
24992243 2014
31
Fatty Acid oxidation disorders in a chinese population in taiwan. 38
23700290 2013
32
Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009. 38
22282276 2012
33
Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong. 38
21542954 2011
34
Carnitine-acylcarnitine translocase deficiency. Clinical course of 3 Saudi children with a severe phenotype. 38
21301774 2011
35
Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype. 38
20714679 2010
36
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening. 38
18925671 2008
37
Prospective treatment in carnitine-acylcarnitine translocase deficiency. 38
17508264 2007
38
Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency. 38
17578469 2007
39
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. 38
17277394 2007
40
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. 38
16297647 2006
41
Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient. 38
15159657 2004
42
Carnitine-acylcarnitine translocase deficiency: case report and review of the literature. 38
12801121 2003
43
Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. 38
12559850 2003
44
Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism. 38
12507404 2002
45
Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases. 38
12403251 2002
46
[Carnitine acylcarnitine translocase deficiency]. 38
12013981 2002
47
Lethal cardiac tachyarrhythmia in a patient with neonatal carnitine-acylcarnitine translocase deficiency. 38
11826365 2001
48
Aberrant mRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency. 38
11592821 2001
49
Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): successful prenatal and postmortem diagnosis associated with a novel mutation in a single family. 38
11350184 2001
50
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. 38
11271379 2001

Variations for Carnitine-Acylcarnitine Translocase Deficiency

ClinVar genetic disease variations for Carnitine-Acylcarnitine Translocase Deficiency:

6 (show all 48)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A20 NM_000387.6(SLC25A20): c.532C> T (p.Arg178Ter) single nucleotide variant Pathogenic rs778220325 3:48899978-48899978 3:48862545-48862545
2 SLC25A20 NM_000387.6(SLC25A20): c.897dup (p.Asn300fs) duplication Pathogenic rs587776759 3:48895152-48895152 3:48857719-48857719
3 SLC25A20 NM_000387.5(SLC25A20): c.199_326del128 (p.Gly67Leufs) deletion Pathogenic rs1553686314 3:48921430-48921557 3:48883997-48884124
4 SLC25A20 SLC25A20, 110-BP DEL deletion Pathogenic
5 SLC25A20 NM_000387.6(SLC25A20): c.496C> T (p.Arg166Ter) single nucleotide variant Pathogenic rs151340616 3:48900014-48900014 3:48862581-48862581
6 SLC25A20 NM_000387.6(SLC25A20): c.84del (p.His29fs) deletion Pathogenic rs587776760 3:48936144-48936144 3:48898711-48898711
7 SLC25A20 NM_000387.6(SLC25A20): c.199-10T> G single nucleotide variant Pathogenic rs541208710 3:48921567-48921567 3:48884134-48884134
8 SLC25A20 NM_000387.6(SLC25A20): c.713A> G (p.Gln238Arg) single nucleotide variant Pathogenic rs28934589 3:48896530-48896530 3:48859097-48859097
9 SLC25A20 NM_000387.6(SLC25A20): c.576G> A (p.Trp192Ter) single nucleotide variant Pathogenic rs587777286 3:48897020-48897020 3:48859587-48859587
10 SLC25A20 NM_000387.6(SLC25A20): c.106-2A> T single nucleotide variant Pathogenic rs587777287 3:48929507-48929507 3:48892074-48892074
11 SLC25A20 NM_000387.6(SLC25A20): c.10C> T (p.Gln4Ter) single nucleotide variant Pathogenic rs756998699 3:48936218-48936218 3:48898785-48898785
12 SLC25A20 NM_000387.6(SLC25A20): c.505dup (p.Tyr169fs) duplication Pathogenic rs1553684897 3:48900005-48900005 3:48862572-48862572
13 SLC25A20 NM_000387.6(SLC25A20): c.292A> T (p.Lys98Ter) single nucleotide variant Pathogenic rs1553686321 3:48921464-48921464 3:48884031-48884031
14 SLC25A20 NM_000387.5(SLC25A20): c.326+1delG deletion Pathogenic rs757552268 3:48921429-48921429 3:48883996-48883996
15 SLC25A20 NM_000387.6(SLC25A20): c.691G> C (p.Asp231His) single nucleotide variant Pathogenic 3:48896552-48896552 3:48859119-48859119
16 SLC25A20 NM_000387.6(SLC25A20): c.804del (p.Phe269fs) deletion Likely pathogenic 3:48895979-48895979 3:48858548-48858548
17 SLC25A20 NM_000387.6(SLC25A20): c.-12G> A single nucleotide variant Conflicting interpretations of pathogenicity rs542582794 3:48936239-48936239 3:48898806-48898806
18 SLC25A20 NM_000387.6(SLC25A20): c.-80G> C single nucleotide variant Uncertain significance rs551279923 3:48936307-48936307 3:48898874-48898874
19 SLC25A20 NM_000387.5(SLC25A20): c.-130C> G single nucleotide variant Uncertain significance rs150795620 3:48936357-48936357 3:48898924-48898924
20 SLC25A20 NM_000387.5(SLC25A20): c.-195A> C single nucleotide variant Uncertain significance rs886058661 3:48936422-48936422 3:48898989-48898989
21 SLC25A20 NM_000387.6(SLC25A20): c.*357C> T single nucleotide variant Uncertain significance rs78776342 3:48894786-48894786 3:48857353-48857353
22 SLC25A20 NM_000387.6(SLC25A20): c.*274C> T single nucleotide variant Uncertain significance rs553907104 3:48894869-48894869 3:48857436-48857436
23 SLC25A20 NM_000387.6(SLC25A20): c.-2C> A single nucleotide variant Uncertain significance rs368937335 3:48936229-48936229 3:48898796-48898796
24 SLC25A20 NM_000387.6(SLC25A20): c.-9G> C single nucleotide variant Uncertain significance rs770135555 3:48936236-48936236 3:48898803-48898803
25 SLC25A20 NM_000387.6(SLC25A20): c.*359C> T single nucleotide variant Uncertain significance rs116681393 3:48894784-48894784 3:48857351-48857351
26 SLC25A20 NM_000387.5(SLC25A20): c.-116C> A single nucleotide variant Uncertain significance rs566770224 3:48936343-48936343 3:48898910-48898910
27 SLC25A20 NM_000387.6(SLC25A20): c.*782T> C single nucleotide variant Uncertain significance rs76087816 3:48894361-48894361 3:48856928-48856928
28 SLC25A20 NM_000387.6(SLC25A20): c.*577del deletion Uncertain significance rs533476473 3:48894566-48894566 3:48857133-48857133
29 SLC25A20 NM_000387.6(SLC25A20): c.*476G> T single nucleotide variant Uncertain significance rs545212823 3:48894667-48894667 3:48857234-48857234
30 SLC25A20 NM_000387.6(SLC25A20): c.779_781del (p.Glu260del) deletion Uncertain significance rs754871147 3:48896002-48896004 3:48858569-48858571
31 SLC25A20 NM_000387.6(SLC25A20): c.358T> C (p.Ser120Pro) single nucleotide variant Uncertain significance rs149174359 3:48916850-48916850 3:48879417-48879417
32 SLC25A20 NM_000387.6(SLC25A20): c.*577dup duplication Uncertain significance rs533476473 3:48894566-48894566 3:48857133-48857133
33 SLC25A20 NM_000387.6(SLC25A20): c.*115G> A single nucleotide variant Uncertain significance rs886058658 3:48895028-48895028 3:48857595-48857595
34 SLC25A20 NM_000387.5(SLC25A20): c.105+7_105+10dupGAGG duplication Uncertain significance rs775942451 3:48936113-48936116 3:48898680-48898683
35 SLC25A20 NM_000387.6(SLC25A20): c.-66T> C single nucleotide variant Uncertain significance rs886058659 3:48936293-48936293 3:48898860-48898860
36 SLC25A20 NM_000387.6(SLC25A20): c.-71G> C single nucleotide variant Uncertain significance rs886058660 3:48936298-48936298 3:48898865-48898865
37 SLC25A20 NM_000387.6(SLC25A20): c.88C> G (p.Pro30Ala) single nucleotide variant Uncertain significance 3:48936140-48936140 3:48898707-48898707
38 SLC25A20 NM_000387.6(SLC25A20): c.198+9A> G single nucleotide variant Uncertain significance 3:48929404-48929404 3:48891971-48891971
39 SLC25A20 NM_000387.6(SLC25A20): c.425C> G (p.Ala142Gly) single nucleotide variant Uncertain significance 3:48900085-48900085 3:48862652-48862652
40 SLC25A20 NM_000387.6(SLC25A20): c.715A> C (p.Thr239Pro) single nucleotide variant Uncertain significance 3:48896528-48896528 3:48859095-48859095
41 SLC25A20 NM_000387.6(SLC25A20): c.803G> T (p.Gly268Val) single nucleotide variant Uncertain significance 3:48895980-48895980 3:48858547-48858547
42 SLC25A20 NM_000387.6(SLC25A20): c.689C> T (p.Pro230Leu) single nucleotide variant Uncertain significance 3:48896554-48896554 3:48859121-48859121
43 SLC25A20 NM_000387.6(SLC25A20): c.668A> G (p.Asn223Ser) single nucleotide variant Uncertain significance 3:48896575-48896575 3:48859142-48859142
44 SLC25A20 NM_000387.6(SLC25A20): c.596C> T (p.Pro199Leu) single nucleotide variant Uncertain significance 3:48897000-48897000 3:48859567-48859567
45 SLC25A20 NM_000387.6(SLC25A20): c.226G> C (p.Ala76Pro) single nucleotide variant Uncertain significance 3:48921530-48921530 3:48884097-48884097
46 SLC25A20 NM_000387.6(SLC25A20): c.*698G> A single nucleotide variant Likely benign rs14828 3:48894445-48894445 3:48857012-48857012
47 SLC25A20 NM_000387.6(SLC25A20): c.535+6C> T single nucleotide variant Likely benign rs199770033 3:48899969-48899969 3:48862536-48862536
48 SLC25A20 NM_000387.6(SLC25A20): c.773G> A (p.Arg258Gln) single nucleotide variant Benign/Likely benign rs35989076 3:48896010-48896010 3:48858577-48858577

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

74
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 SLC25A20 CPT2 CPT1A
2
Show member pathways
12.21 SLC25A20 CPT2 CPT1A
3
Show member pathways
11.6 CPT2 CPT1A
4 11.2 CPT2 CPT1A
5
Show member pathways
10.86 SLC25A20 CPT2 CPT1A
6 10.57 CPT2 CPT1A
7 9.84 SLC25A20 CPT2 CPT1A

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 inner membrane GO:0005743 8.96 SLC25A20 CPT2
2 mitochondrion GO:0005739 8.8 SLC25A20 CPT2 CPT1A

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 CPT2 CPT1A
2 fatty acid metabolic process GO:0006631 9.26 CPT2 CPT1A
3 regulation of lipid metabolic process GO:0019216 9.16 CPT2 CPT1A
4 fatty acid beta-oxidation GO:0006635 8.96 CPT2 CPT1A
5 carnitine shuttle GO:0006853 8.8 SLC25A20 CPT2 CPT1A

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 CPT2 CPT1A
2 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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