CACTD
MCID: CRN041
MIFTS: 46

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 56 12 74 52 25 58 73 36 13 43 71
Cact Deficiency 56 12 25 58 73
Carnitine Acylcarnitine Translocase Deficiency 25 29 6 39
Cactd 56 12 73
Carnitine-Acylcarnitine Carrier Deficiency 25

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:

56
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

NIH Rare Diseases : 52 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 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 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.

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 : 56 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 : 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 : 73 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 : 74 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:

58 31 (show all 39)
# 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 irritability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000737
7 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
8 cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001638
9 hyperammonemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001987
10 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
11 encephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001298
12 elevated creatine kinase after exercise 58 31 hallmark (90%) Very frequent (99-80%) HP:0008331
13 fasting hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003162
14 ventricular tachycardia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004756
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 hypoketotic hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001985
18 dicarboxylic aciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0003215
19 elevated plasma acylcarnitine levels 58 31 hallmark (90%) Very frequent (99-80%) HP:0045045
20 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
21 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
22 hypothermia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002045
23 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
24 hepatic failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001399
25 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
26 preeclampsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100602
27 cyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000961
28 oliguria 58 31 occasional (7.5%) Occasional (29-5%) HP:0100520
29 sudden episodic apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002882
30 atrioventricular block 31 HP:0001678
31 arrhythmia 58 Very frequent (99-80%)
32 hypoglycemia 31 HP:0001943
33 generalized hypotonia 31 HP:0001290
34 abnormality of skeletal muscles 58 Very frequent (99-80%)
35 ventricular extrasystoles 31 HP:0006682
36 bradycardia 31 HP:0001662
37 ventricular hypertrophy 31 HP:0001714
38 cardiorespiratory arrest 31 HP:0006543
39 elevated serum creatine kinase 31 HP:0003236

Symptoms via clinical synopsis from OMIM:

56
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

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

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
Liver, Skeletal Muscle, Heart, Testes

Publications for Carnitine-Acylcarnitine Translocase Deficiency

Articles related to Carnitine-Acylcarnitine Translocase Deficiency:

(show top 50) (show all 71)
# Title Authors PMID Year
1
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals. 61 56 6
24088670 2013
2
Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. 61 56 6
15057979 2004
3
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. 56 6
9399886 1997
4
Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. 56 6
1598097 1992
5
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. 61 56
15365988 2004
6
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. 61 56
15363639 2004
7
Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency. 61 6
10697964 2000
8
Carnitine-acylcarnitine translocase deficiency is a treatable disease. 61 56
10384385 1999
9
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. 61 56
9544911 1998
10
Carnitine-acylcarnitine translocase deficiency--a mild phenotype. 61 56
9323572 1997
11
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. 61 56
8739960 1996
12
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. 61 56
7564255 1995
13
Carnitine-acylcarnitine translocase deficiency: implications in human pathology. 61 56
8054358 1994
14
Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis. 61 56
7807931 1994
15
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. 61 56
8450053 1993
16
A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient. 6
12859414 2003
17
Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency. 6
10384384 1999
18
Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient. 6
9686371 1998
19
Inherited cardiomyopathies. 56
8114864 1994
20
Diagnostic contribution of metabolic workup for neonatal inherited metabolic disorders in the absence of expanded newborn screening. 61
31575911 2019
21
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China. 61
31108048 2019
22
Epidemiology of rare diseases detected by newborn screening in the Czech Republic. 61
31241292 2019
23
[Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G]. 61
29996190 2018
24
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase Deficiency. 61
28689308 2018
25
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
26
Expanded newborn metabolic screening programme in Hong Kong: a three-year journey. 61
28862145 2017
27
Sudden infant death from neonate carnitine palmitoyl transferase II deficiency. 61
28739175 2017
28
A novel method for determining peroxisomal fatty acid β-oxidation. 61
27324171 2016
29
Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. 61
25459972 2015
30
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature. 61
25614308 2015
31
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations. 61
24992243 2014
32
Fatty Acid oxidation disorders in a chinese population in taiwan. 61
23700290 2013
33
PGC-1β regulates mouse carnitine-acylcarnitine translocase through estrogen-related receptor α. 61
22713466 2012
34
Ablation of steroid receptor coactivator-3 resembles the human CACT metabolic myopathy. 61
22560224 2012
35
Diagnosis of disorders of intermediary metabolism in New Zealand before and after expanded newborn screening: 2004-2009. 61
22282276 2012
36
Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis. 61
21605995 2011
37
Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong. 61
21542954 2011
38
Carnitine-acylcarnitine translocase deficiency. Clinical course of 3 Saudi children with a severe phenotype. 61
21301774 2011
39
Carnitine-acylcarnitine translocase deficiency. Clinical course of three Saudi children with a severe phenotype. 61
20714679 2010
40
Multiple splice defects in ABCA1 cause low HDL-C in a family with hypoalphalipoproteinemia and premature coronary disease. 61
19133158 2009
41
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening. 61
18925671 2008
42
Baicalein 5,6,7-trimethyl ether activates peroxisomal but not mitochondrial fatty acid beta-oxidation. 61
18470630 2008
43
Prospective treatment in carnitine-acylcarnitine translocase deficiency. 61
17508264 2007
44
Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency. 61
17578469 2007
45
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest. 61
17277394 2007
46
Suppression of the acuH13 and acuH31 nonsense mutations in the carnitine/acylcarnitine translocase (acuH) gene of Aspergillus nidulans by the G265S substitution in the domain 2 of the release factor eRF1. 61
16971148 2007
47
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. 61
16919490 2006
48
Disorders of carnitine transport and the carnitine cycle. 61
16602102 2006
49
Differentiation of long-chain fatty acid oxidation disorders using alternative precursors and acylcarnitine profiling in fibroblasts. 61
16297647 2006
50
Carnitine-acylcarnitine translocase deficiency: identification of a novel molecular defect in a Bedouin patient. 61
15159657 2004

Variations for Carnitine-Acylcarnitine Translocase Deficiency

ClinVar genetic disease variations for Carnitine-Acylcarnitine Translocase Deficiency:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC25A20 NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter)SNV Pathogenic 203941 rs756998699 3:48936218-48936218 3:48898785-48898785
2 SLC25A20 NM_000387.6(SLC25A20):c.897dup (p.Asn300fs)duplication Pathogenic 12132 rs587776759 3:48895151-48895152 3:48857718-48857719
3 SLC25A20 NM_000387.6(SLC25A20):c.200_326+1deldeletion Pathogenic 12133 rs1553686314 3:48921429-48921556 3:48883996-48884123
4 SLC25A20 SLC25A20, 110-BP DELdeletion Pathogenic 12134
5 SLC25A20 NM_000387.6(SLC25A20):c.496C>T (p.Arg166Ter)SNV Pathogenic 12135 rs151340616 3:48900014-48900014 3:48862581-48862581
6 SLC25A20 NM_000387.6(SLC25A20):c.84del (p.His29fs)deletion Pathogenic 12136 rs587776760 3:48936144-48936144 3:48898711-48898711
7 SLC25A20 NM_000387.6(SLC25A20):c.199-10T>GSNV Pathogenic 12137 rs541208710 3:48921567-48921567 3:48884134-48884134
8 SLC25A20 NM_000387.6(SLC25A20):c.713A>G (p.Gln238Arg)SNV Pathogenic 12138 rs28934589 3:48896530-48896530 3:48859097-48859097
9 SLC25A20 NM_000387.6(SLC25A20):c.576G>A (p.Trp192Ter)SNV Pathogenic 126507 rs587777286 3:48897020-48897020 3:48859587-48859587
10 SLC25A20 NM_000387.6(SLC25A20):c.106-2A>TSNV Pathogenic 126508 rs587777287 3:48929507-48929507 3:48892074-48892074
11 SLC25A20 NM_000387.6(SLC25A20):c.505dup (p.Tyr169fs)duplication Pathogenic 460440 rs1553684897 3:48900004-48900005 3:48862571-48862572
12 SLC25A20 NM_000387.6(SLC25A20):c.292A>T (p.Lys98Ter)SNV Pathogenic 460439 rs1553686321 3:48921464-48921464 3:48884031-48884031
13 SLC25A20 NM_000387.6(SLC25A20):c.532C>T (p.Arg178Ter)SNV Pathogenic 545967 rs778220325 3:48899978-48899978 3:48862545-48862545
14 SLC25A20 NM_000387.6(SLC25A20):c.326+1deldeletion Pathogenic 345943 rs757552268 3:48921429-48921429 3:48883996-48883996
15 SLC25A20 NM_000387.6(SLC25A20):c.691G>C (p.Asp231His)SNV Pathogenic 646763 3:48896552-48896552 3:48859119-48859119
16 SLC25A20 NM_000387.6(SLC25A20):c.804del (p.Phe269fs)deletion Likely pathogenic 639496 3:48895979-48895979 3:48858546-48858546
17 SLC25A20 NM_000387.6(SLC25A20):c.-12G>ASNV Conflicting interpretations of pathogenicity 345946 rs542582794 3:48936239-48936239 3:48898806-48898806
18 SLC25A20 NM_000387.6(SLC25A20):c.-80G>CSNV Uncertain significance 345949 rs551279923 3:48936307-48936307 3:48898874-48898874
19 SLC25A20 NM_000387.5(SLC25A20):c.-130C>GSNV Uncertain significance 345951 rs150795620 3:48936357-48936357 3:48898924-48898924
20 SLC25A20 NM_000387.5(SLC25A20):c.-195A>CSNV Uncertain significance 345952 rs886058661 3:48936422-48936422 3:48898989-48898989
21 SLC25A20 NM_000387.6(SLC25A20):c.*357C>TSNV Uncertain significance 345936 rs78776342 3:48894786-48894786 3:48857353-48857353
22 SLC25A20 NM_000387.6(SLC25A20):c.*274C>TSNV Uncertain significance 345937 rs553907104 3:48894869-48894869 3:48857436-48857436
23 SLC25A20 NM_000387.6(SLC25A20):c.-2C>ASNV Uncertain significance 345944 rs368937335 3:48936229-48936229 3:48898796-48898796
24 SLC25A20 NM_000387.6(SLC25A20):c.-9G>CSNV Uncertain significance 345945 rs770135555 3:48936236-48936236 3:48898803-48898803
25 SLC25A20 NM_000387.6(SLC25A20):c.*359C>TSNV Uncertain significance 345935 rs116681393 3:48894784-48894784 3:48857351-48857351
26 SLC25A20 NM_000387.6(SLC25A20):c.*782T>CSNV Uncertain significance 345927 rs76087816 3:48894361-48894361 3:48856928-48856928
27 SLC25A20 NM_000387.6(SLC25A20):c.*577deldeletion Uncertain significance 345933 rs533476473 3:48894566-48894566 3:48857133-48857133
28 SLC25A20 NM_000387.6(SLC25A20):c.*476G>TSNV Uncertain significance 345934 rs545212823 3:48894667-48894667 3:48857234-48857234
29 SLC25A20 NM_000387.6(SLC25A20):c.779_781del (p.Glu260del)deletion Uncertain significance 345940 rs754871147 3:48896002-48896004 3:48858569-48858571
30 SLC25A20 NM_000387.6(SLC25A20):c.358T>C (p.Ser120Pro)SNV Uncertain significance 345941 rs149174359 3:48916850-48916850 3:48879417-48879417
31 SLC25A20 NM_000387.6(SLC25A20):c.803G>T (p.Gly268Val)SNV Uncertain significance 639497 3:48895980-48895980 3:48858547-48858547
32 SLC25A20 NM_000387.5(SLC25A20):c.-116C>ASNV Uncertain significance 345950 rs566770224 3:48936343-48936343 3:48898910-48898910
33 SLC25A20 NM_000387.6(SLC25A20):c.689C>T (p.Pro230Leu)SNV Uncertain significance 646646 3:48896554-48896554 3:48859121-48859121
34 SLC25A20 NM_000387.6(SLC25A20):c.668A>G (p.Asn223Ser)SNV Uncertain significance 656680 3:48896575-48896575 3:48859142-48859142
35 SLC25A20 NM_000387.6(SLC25A20):c.596C>T (p.Pro199Leu)SNV Uncertain significance 655551 3:48897000-48897000 3:48859567-48859567
36 SLC25A20 NM_000387.6(SLC25A20):c.226G>C (p.Ala76Pro)SNV Uncertain significance 651841 3:48921530-48921530 3:48884097-48884097
37 SLC25A20 NM_000387.6(SLC25A20):c.88C>G (p.Pro30Ala)SNV Uncertain significance 578404 rs780569251 3:48936140-48936140 3:48898707-48898707
38 SLC25A20 NM_000387.6(SLC25A20):c.198+9A>GSNV Uncertain significance 571525 rs896736499 3:48929404-48929404 3:48891971-48891971
39 SLC25A20 NM_000387.6(SLC25A20):c.425C>G (p.Ala142Gly)SNV Uncertain significance 587448 rs759262977 3:48900085-48900085 3:48862652-48862652
40 SLC25A20 NM_000387.6(SLC25A20):c.715A>C (p.Thr239Pro)SNV Uncertain significance 635295 3:48896528-48896528 3:48859095-48859095
41 SLC25A20 NM_000387.6(SLC25A20):c.*577dupduplication Uncertain significance 345932 rs533476473 3:48894565-48894566 3:48857132-48857133
42 SLC25A20 NM_000387.6(SLC25A20):c.*115G>ASNV Uncertain significance 345938 rs886058658 3:48895028-48895028 3:48857595-48857595
43 SLC25A20 NM_000387.6(SLC25A20):c.105+7_105+10dupduplication Uncertain significance 345942 rs775942451 3:48936112-48936113 3:48898679-48898680
44 SLC25A20 NM_000387.6(SLC25A20):c.-66T>CSNV Uncertain significance 345947 rs886058659 3:48936293-48936293 3:48898860-48898860
45 SLC25A20 NM_000387.6(SLC25A20):c.-71G>CSNV Uncertain significance 345948 rs886058660 3:48936298-48936298 3:48898865-48898865
46 SLC25A20 NM_000387.6(SLC25A20):c.*698G>ASNV Likely benign 345931 rs14828 3:48894445-48894445 3:48857012-48857012

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

73
# 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
11.89 CPT2 CPT1A
4
Show member pathways
11.6 CPT2 CPT1A
5 11.2 CPT2 CPT1A
6
Show member pathways
10.86 SLC25A20 CPT2 CPT1A
7 10.57 CPT2 CPT1A
8 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 in utero embryonic development GO:0001701 9.32 SLC25A20 CPT2
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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