CPT1AD
MCID: CRN295
MIFTS: 55

Carnitine Palmitoyltransferase I Deficiency (CPT1AD)

Categories: Blood diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Carnitine Palmitoyltransferase I Deficiency

MalaCards integrated aliases for Carnitine Palmitoyltransferase I Deficiency:

Name: Carnitine Palmitoyltransferase I Deficiency 57 12 73 43 72 36 54 15 39
Carnitine Palmitoyltransferase 1a Deficiency 25 20 72 29 6
Cpt1a Deficiency 12 25 20 58 72
Carnitine Palmitoyl Transferase 1a Deficiency 12 20 58 70
Hepatic Carnitine Palmitoyl Transferase 1 Deficiency 12 20 58
Hepatic Carnitine Palmitoyl Transferase I Deficiency 12 20 58
Carnitine Palmitoyl Transferase Ia Deficiency 12 20 58
L-Cpt1 Deficiency 12 20 58
Cpt I Deficiency 57 12 43
Hepatic Carnitine Palmitoyltransferase 1 Deficiency 25 20
Carnitine Palmitoyltransferase Ia Deficiency 57 43
Cpt Deficiency, Hepatic, Type Ia 57 13
Cpt Deficiency, Hepatic, Type I 57 43
L-Cpti Deficiency 20 58
Liver Form of Carnitine Palmitoyltransferase Deficiency 43
Hepatic Cpt Deficiency Type I 12
L-Cpt 1 Deficiency 20
Cpt 1a Deficiency 43
Cpt-I Deficiency 72
Hepatic Cpt1 20
Cpt1ad 72

Characteristics:

Orphanet epidemiological data:

58
carnitine palmitoyl transferase 1a deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM®:

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

Miscellaneous:
onset <30 months
precipitated by infection, fasting, or intercurrent illness


HPO:

31
carnitine palmitoyltransferase i deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Carnitine Palmitoyltransferase I Deficiency

MedlinePlus Genetics : 43 Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals.Signs and symptoms of CPT I deficiency often appear during early childhood. Affected individuals usually 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 CPT I deficiency can also have an enlarged liver (hepatomegaly), liver malfunction, and elevated levels of carnitine in the blood. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. Individuals with CPT I deficiency are at risk for nervous system damage, liver failure, seizures, coma, and sudden death.Problems related to CPT I deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.

MalaCards based summary : Carnitine Palmitoyltransferase I Deficiency, also known as carnitine palmitoyltransferase 1a deficiency, is related to reye syndrome and fatty liver disease, and has symptoms including seizures, lethargy and diarrhea. An important gene associated with Carnitine Palmitoyltransferase I Deficiency is CPT1A (Carnitine Palmitoyltransferase 1A), and among its related pathways/superpathways are Fatty acid degradation and Fatty acid metabolism. Affiliated tissues include liver, skeletal muscle and brain, and related phenotypes are neurological speech impairment and behavioral abnormality

Disease Ontology : 12 A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13.

GARD : 20 Carnitine palmitoyltransferase I deficiency (CPT1A deficiency) is an inherited metabolic condition that prevents the body from converting certain fats (long-chain fatty acids) into energy, particularly during periods without food. Carnitine, a natural substance acquired mostly through the diet, is required by cells to process fats and produce energy. Symptoms of this condition often appear early in life and include low blood sugar (hypoglycemia) and low levels of ketones, which are produced when the body breaks down fat for energy (hypoketotic hypoglycemia). This can lead to a greater risk for loss of consciousness or seizures. People with this disorder typically also have an enlarged liver (hepatomegaly), muscle weakness, nervous system damage, and elevated levels of carnitine in the blood. CPT1A deficiency is caused by mutations in the CPT1A gene and is inherited in an autosomal recessive manner. Although there is no cure for CPT1A deficiency, symptoms can be managed using several strategies, such dietary changes and use of fat supplements.

OMIM® : 57 CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981) (255120) (Updated 20-May-2021)

KEGG : 36 Carnitine palmitoyltransferase 1 (CPT1) deficiency is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation. CPT1 controls the import of long-chain fatty acids into the mitochondria. Defects in the liver isoform of CPT1 (CPT1A) present with recurrent attacks of fasting hypoketotic hypoglycemia.

UniProtKB/Swiss-Prot : 72 Carnitine palmitoyltransferase 1A deficiency: Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood.

Wikipedia : 73 Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from... more...

GeneReviews: NBK1527

Related Diseases for Carnitine Palmitoyltransferase I Deficiency

Diseases related to Carnitine Palmitoyltransferase I Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 reye syndrome 30.3 CPT2 ACADM
2 fatty liver disease 29.9 HADHA CPT1A ACADM
3 organic acidemia 29.9 BLOC1S1 ACADS ACADM
4 hypoglycemia 29.7 HADHB HADHA CPT2 CPT1A ACADVL ACADM
5 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 29.6 HADHB HADHA ACADVL ACADM
6 hepatitis 10.3
7 visceral steatosis 10.2 CPT1B CPT1A
8 cholestasis 10.2
9 craniosynostosis 10.2
10 encephalopathy 10.2
11 myoglobinuria, recurrent 10.1 CPT2 ACADVL
12 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1 CPT2 ACADVL
13 ocular motor apraxia 10.1
14 metabolic acidosis 10.1
15 non-alcoholic fatty liver disease 10.1
16 hepatic coma 10.1
17 hepatic encephalopathy 10.1
18 renal tubular acidosis 10.1
19 gastroenteritis 10.1
20 liver disease 10.1
21 distal renal tubular acidosis 10.1
22 glycogen storage disease v 10.1 CPT2 BLOC1S1
23 acyl-coa dehydrogenase deficiency 10.1 ACADVL ACADM
24 complement component 2 deficiency 10.1 HADHA ACADVL
25 spinocerebellar ataxia, autosomal recessive 3 10.1 BLOC1S1 ACADS
26 body mass index quantitative trait locus 11 10.0
27 body mass index quantitative trait locus 9 10.0
28 body mass index quantitative trait locus 8 10.0
29 body mass index quantitative trait locus 4 10.0
30 body mass index quantitative trait locus 10 10.0
31 body mass index quantitative trait locus 7 10.0
32 body mass index quantitative trait locus 12 10.0
33 body mass index quantitative trait locus 14 10.0
34 fatty liver disease, nonalcoholic 1 10.0
35 body mass index quantitative trait locus 18 10.0
36 body mass index quantitative trait locus 19 10.0
37 multiple carboxylase deficiency 9.9 HADHA ACADM
38 autosomal recessive disease 9.9
39 argininemia 9.9 HADHA ACADM
40 abetalipoproteinemia 9.9 HADHB HADHA CPT2
41 3-hydroxyacyl-coa dehydrogenase deficiency 9.9 HADHA ACADVL ACADM
42 isovaleric acidemia 9.9 HADHA ACADVL ACADS
43 3-methylcrotonyl-coa carboxylase deficiency 9.9 HADHA ACADVL ACADS
44 citrullinemia, classic 9.8 TMLHE HADHA ACADVL
45 sudden infant death syndrome 9.7 HADHA CPT1A ACADM
46 respiratory failure 9.6 HADHA CPT2 ACADVL
47 carnitine-acylcarnitine translocase deficiency 9.5 TMLHE HADHA CPT2 CPT1A ACADVL
48 propionic acidemia 9.5 TMLHE HADHA CPT2 BLOC1S1 ACADVL
49 acyl-coa dehydrogenase, short-chain, deficiency of 9.4 HADHA CPT2 ACADVL ACADS ACADM
50 acyl-coa dehydrogenase, medium-chain, deficiency of 9.3 HADHA CPT2 CPT1B ACADVL ACADS ACADM

Graphical network of the top 20 diseases related to Carnitine Palmitoyltransferase I Deficiency:



Diseases related to Carnitine Palmitoyltransferase I Deficiency

Symptoms & Phenotypes for Carnitine Palmitoyltransferase I Deficiency

Human phenotypes related to Carnitine Palmitoyltransferase I Deficiency:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 behavioral abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000708
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001943
5 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
6 elevated hepatic transaminase 58 31 hallmark (90%) Very frequent (99-80%) HP:0002910
7 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
8 hepatic failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001399
9 seizure 31 hallmark (90%) HP:0001250
10 hypotonia 31 hallmark (90%) HP:0001252
11 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
12 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
13 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
14 coma 58 31 frequent (33%) Frequent (79-30%) HP:0001259
15 loss of consciousness 58 31 frequent (33%) Frequent (79-30%) HP:0007185
16 transient hyperlipidemia 58 31 frequent (33%) Frequent (79-30%) HP:0008279
17 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
18 hypertrophic cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001639
19 renal tubular acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001947
20 arrhythmia 58 31 Occasional (29-5%) HP:0011675
21 seizures 58 Very frequent (99-80%)
22 muscular hypotonia 58 Very frequent (99-80%)
23 feeding difficulties in infancy 31 HP:0008872
24 cardiomegaly 31 HP:0001640
25 hepatic steatosis 31 HP:0001397
26 elevated serum creatine kinase 31 HP:0003236
27 hyperammonemia 31 HP:0001987
28 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)
29 diarrhea 31 HP:0002014
30 generalized hypotonia 31 HP:0001290
31 prenatal maternal abnormality 31 HP:0002686
32 hypoketotic hypoglycemia 31 HP:0001985
33 recurrent encephalopathy 31 HP:0007335

Symptoms via clinical synopsis from OMIM®:

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

Cardiovascular Heart:
cardiomegaly
cardiac rhythm disturbances

Metabolic Features:
renal tubular acidosis
hypoketotic hypoglycemia

Muscle Soft Tissue:
muscle weakness is not a feature

Abdomen Liver:
hepatomegaly

Abdomen Gastrointestinal:
diarrhea
poor feeding

Laboratory Abnormalities:
transient hyperlipidemia
elevated transaminases
no dicarboxylic aciduria
elevated creatine kinase
mild to moderate hyperammonemia
more
Prenatal Manifestations Maternal:
acute fatty liver in pregnancy (fetus with carnitine palmitoyltransferase i (cpt1) deficiency)
hellp syndrome

Clinical features from OMIM®:

255120 (Updated 20-May-2021)

UMLS symptoms related to Carnitine Palmitoyltransferase I Deficiency:


seizures; lethargy; diarrhea

MGI Mouse Phenotypes related to Carnitine Palmitoyltransferase I Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ACADM ACADS ACADVL BLOC1S1 CPT1A CPT1B
2 cardiovascular system MP:0005385 9.92 ACADM ACADVL CPT1A CPT1C CPT2 CRAT
3 mortality/aging MP:0010768 9.65 ACADM ACADS ACADVL BLOC1S1 CPT1A CPT1B
4 liver/biliary system MP:0005370 9.63 ACADM ACADS ACADVL CPT1C HADHA HADHB
5 muscle MP:0005369 9.17 ACADM ACADS ACADVL CPT1C CRAT HADHA

Drugs & Therapeutics for Carnitine Palmitoyltransferase I Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Metabolic Consequences of CPT1A Deficiency in Alaska Native Children Completed NCT00653666

Search NIH Clinical Center for Carnitine Palmitoyltransferase I Deficiency

Genetic Tests for Carnitine Palmitoyltransferase I Deficiency

Genetic tests related to Carnitine Palmitoyltransferase I Deficiency:

# Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase 1a Deficiency 29 CPT1A

Anatomical Context for Carnitine Palmitoyltransferase I Deficiency

MalaCards organs/tissues related to Carnitine Palmitoyltransferase I Deficiency:

40
Liver, Skeletal Muscle, Brain

Publications for Carnitine Palmitoyltransferase I Deficiency

Articles related to Carnitine Palmitoyltransferase I Deficiency:

(show top 50) (show all 62)
# Title Authors PMID Year
1
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. 25 57 6 61
12189492 2002
2
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. 54 61 57 6
9691089 1998
3
Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile. 61 54 25 57
11286383 2001
4
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. 57 25 54 61
10625081 2000
5
Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut. 25 61 6
20696606 2010
6
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. 61 6 25
16146704 2005
7
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. 61 54 6
15110323 2004
8
Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme. 25 6
11441142 2001
9
Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): evidence for a founder effect and results of a pilot study on a DNA-based newborn screening program. 6 25
11350183 2001
10
Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency. 61 6
27066452 2016
11
Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland. 61 6
21962599 2012
12
Carnitine Palmitoyltransferase 1A Deficiency 61 6
20301700 2005
13
Functional and structural basis of carnitine palmitoyltransferase 1A deficiency. 61 6
14517221 2003
14
Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community. 61 6
11350182 2001
15
Features of carnitine palmitoyltransferase type I deficiency. 54 57
11286380 2001
16
Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family. 54 57
1403388 1992
17
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 6
28468868 2017
18
Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant. 61 25
21763168 2011
19
Carnitine palmitoyltransferase IA polymorphism P479L is common in Greenland Inuit and is associated with elevated plasma apolipoprotein A-I. 61 25
19181627 2009
20
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations. 6
19217814 2009
21
Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiency. 57
17060594 2006
22
Molecular assay for detection of the common carnitine palmitoyltransferase 1A 1436(C>T) mutation. 61 25
16958601 2006
23
Homozygous carnitine palmitoyltransferase 1a (liver isoform) deficiency is lethal in the mouse. 6
16169268 2005
24
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation. 61 25
15669684 2004
25
Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency. 6
12111367 2002
26
Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. 25 61
11568084 2001
27
Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy. 6
9048718 1997
28
Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency. 57
1598098 1992
29
Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency. 57
1434517 1992
30
Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities. 57
3211616 1988
31
Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. 57
7014807 1981
32
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. 25
25751282 2015
33
A Selective Sweep on a Deleterious Mutation in CPT1A in Arctic Populations. 25
25449608 2014
34
Evidence for an association between infant mortality and a carnitine palmitoyltransferase 1A genetic variant. 25
20937660 2010
35
Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency. 61 54
17160614 2007
36
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. 25
15363638 2004
37
Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination. 54 61
12828998 2003
38
[Carnitine palmitoyltransferase I deficiency]. 61 54
12013979 2002
39
Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency. 61 54
11757589 2001
40
Postoperative coma in a child with carnitine palmitoyltransferase I deficiency. 61 54
11226093 2001
41
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique. 54 61
9266222 1997
42
The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis. 25
9063439 1997
43
Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. 54 61
7877875 1994
44
Repeat MRI in acute rhabdomyolysis: correlation with clinicopathological findings. 54 61
8370836 1993
45
[Analysis of a child with carnitine palmitoyl transferase 1A deficiency due to variant of CPT1A gene]. 61
33565078 2021
46
A patient with atypical presentation of chronic hepatosteatosis harboring a novel variant in the CPT1A gene. 61
32781271 2021
47
Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids. 61
30881520 2019
48
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. 61
29519241 2018
49
Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency. 61
28748224 2017
50
[Clinical features and genetic analysis of a case with carnitine palmitoyltransferase 1A deficiency]. 61
28397225 2017

Variations for Carnitine Palmitoyltransferase I Deficiency

ClinVar genetic disease variations for Carnitine Palmitoyltransferase I Deficiency:

6 (show top 50) (show all 218)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPT1A NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val) SNV Pathogenic 65639 rs80356783 GRCh37: 11:68552419-68552419
GRCh38: 11:68784951-68784951
2 CPT1A NM_001876.4(CPT1A):c.1069C>T (p.Arg357Trp) SNV Pathogenic 65640 rs80356777 GRCh37: 11:68552377-68552377
GRCh38: 11:68784909-68784909
3 CPT1A NM_001876.4(CPT1A):c.1339C>T (p.Arg447Ter) SNV Pathogenic 65641 rs397515543 GRCh37: 11:68549252-68549252
GRCh38: 11:68781784-68781784
4 CPT1A NM_001876.4(CPT1A):c.1393G>T (p.Gly465Trp) SNV Pathogenic 65642 rs80356784 GRCh37: 11:68548173-68548173
GRCh38: 11:68780705-68780705
5 CPT1A NM_001876.4(CPT1A):c.1425G>A (p.Trp475Ter) SNV Pathogenic 65643 rs80356794 GRCh37: 11:68548141-68548141
GRCh38: 11:68780673-68780673
6 CPT1A NM_001876.4(CPT1A):c.1451T>C (p.Leu484Pro) SNV Pathogenic 65645 rs80356793 GRCh37: 11:68548115-68548115
GRCh38: 11:68780647-68780647
7 CPT1A NM_001876.4(CPT1A):c.1494T>A (p.Tyr498Ter) SNV Pathogenic 65646 rs80356795 GRCh37: 11:68542865-68542865
GRCh38: 11:68775397-68775397
8 CPT1A NM_001876.4(CPT1A):c.1494T>G (p.Tyr498Ter) SNV Pathogenic 65647 rs80356795 GRCh37: 11:68542865-68542865
GRCh38: 11:68775397-68775397
9 CPT1A NM_001876.4(CPT1A):c.1600del (p.Ser533_Leu534insTer) Deletion Pathogenic 65648 rs80356801 GRCh37: 11:68540873-68540873
GRCh38: 11:68773405-68773405
10 CPT1A NM_001876.4(CPT1A):c.1737C>A (p.Tyr579Ter) SNV Pathogenic 65649 rs80356785 GRCh37: 11:68540736-68540736
GRCh38: 11:68773268-68773268
11 CPT1A NM_001876.4(CPT1A):c.2028+3_2028+6del Microsatellite Pathogenic 65651 rs80356799 GRCh37: 11:68528997-68529000
GRCh38: 11:68761529-68761532
12 CPT1A NM_001876.4(CPT1A):c.2156G>A (p.Gly719Asp) SNV Pathogenic 65652 rs397515544 GRCh37: 11:68527116-68527116
GRCh38: 11:68759648-68759648
13 CPT1A NM_001876.4(CPT1A):c.912C>G (p.Cys304Trp) SNV Pathogenic 65656 rs80356789 GRCh37: 11:68560838-68560838
GRCh38: 11:68793370-68793370
14 CPT1A NM_001876.4(CPT1A):c.941C>T (p.Thr314Ile) SNV Pathogenic 65657 rs80356776 GRCh37: 11:68560809-68560809
GRCh38: 11:68793341-68793341
15 CPT1A NM_001876.3:c.946C>G? Variation Pathogenic 65658 GRCh37:
GRCh38:
16 CPT1A NM_001876.4(CPT1A):c.96T>G (p.Tyr32Ter) SNV Pathogenic 65661 rs80356786 GRCh37: 11:68582847-68582847
GRCh38: 11:68815379-68815379
17 CPT1A NM_001876.3:c.986C>T SNV Pathogenic 65662 GRCh37:
GRCh38:
18 CPT1A NM_001876.4(CPT1A):c.1361A>G (p.Asp454Gly) SNV Pathogenic 9061 rs80356778 GRCh37: 11:68548205-68548205
GRCh38: 11:68780737-68780737
19 CPT1A NM_001876.4(CPT1A):c.1079A>G (p.Glu360Gly) SNV Pathogenic 9062 rs80356787 GRCh37: 11:68552367-68552367
GRCh38: 11:68784899-68784899
20 CPT1A NM_001876.4(CPT1A):c.1575+533_1575+534del Deletion Pathogenic 9064 rs1169875761 GRCh37: 11:68542250-68542251
GRCh38: 11:68774782-68774783
21 CPT1A NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val) SNV Pathogenic 9065 rs80356790 GRCh37: 11:68549350-68549350
GRCh38: 11:68781882-68781882
22 CPT1A NM_001031847.2(CPT1A):c.(?_1744)_2107del (p.Met582Glnfs) Deletion Pathogenic 9068 GRCh37: 11:68527728-68536100
GRCh38: 11:68760260-68768632
23 CPT1A NM_001876.4(CPT1A):c.2126G>A (p.Gly709Glu) SNV Pathogenic 9069 rs28936374 GRCh37: 11:68527709-68527709
GRCh38: 11:68760241-68760241
24 CPT1A NM_001031847.2(CPT1A):c.948delG (p.Ile317Serfs) Deletion Pathogenic 9070 rs80356800 GRCh37: 11:68560802-68560802
GRCh38: 11:68793334-68793334
25 CPT1A NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter) SNV Pathogenic 65654 rs80356782 GRCh37: 11:68571545-68571545
GRCh38: 11:68804077-68804077
26 CPT1A NM_001876.4(CPT1A):c.1216C>T (p.Gln406Ter) SNV Pathogenic 645430 rs1594334937 GRCh37: 11:68549375-68549375
GRCh38: 11:68781907-68781907
27 CPT1A NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter) SNV Pathogenic 657820 rs773153659 GRCh37: 11:68530178-68530178
GRCh38: 11:68762710-68762710
28 CPT1A NM_001876.4(CPT1A):c.122del (p.Lys41fs) Deletion Pathogenic 837468 GRCh37: 11:68582821-68582821
GRCh38: 11:68815353-68815353
29 CPT1A NM_001876.4(CPT1A):c.465del (p.Ile156fs) Deletion Pathogenic 844743 GRCh37: 11:68571558-68571558
GRCh38: 11:68804090-68804090
30 CPT1A NM_001876.4(CPT1A):c.539_540del (p.Lys180fs) Deletion Pathogenic 934646 GRCh37: 11:68571483-68571484
GRCh38: 11:68804015-68804016
31 CPT1A NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter) SNV Pathogenic 972353 GRCh37: 11:68564362-68564362
GRCh38: 11:68796894-68796894
32 CPT1A NM_001876.4(CPT1A):c.2226C>A (p.Cys742Ter) SNV Pathogenic 1029388 GRCh37: 11:68527046-68527046
GRCh38: 11:68759578-68759578
33 CPT1A NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys) SNV Pathogenic 65653 rs80356775 GRCh37: 11:68575021-68575021
GRCh38: 11:68807553-68807553
34 CPT1A NM_001876.4(CPT1A):c.1163+1G>A SNV Pathogenic 371246 rs148059333 GRCh37: 11:68552282-68552282
GRCh38: 11:68784814-68784814
35 CPT1A NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu) SNV Pathogenic 65644 rs80356779 GRCh37: 11:68548130-68548130
GRCh38: 11:68780662-68780662
36 CPT1A NM_001876.4(CPT1A):c.222C>A (p.Tyr74Ter) SNV Pathogenic/Likely pathogenic 93972 rs398123654 GRCh37: 11:68579964-68579964
GRCh38: 11:68812496-68812496
37 CPT1A NM_001876.4(CPT1A):c.1459-1G>A SNV Likely pathogenic 371151 rs1057517046 GRCh37: 11:68542901-68542901
GRCh38: 11:68775433-68775433
38 CPT1A NM_001876.4(CPT1A):c.2259_2261dup (p.Leu754dup) Duplication Likely pathogenic 802697 rs1594313040 GRCh37: 11:68525172-68525173
GRCh38: 11:68757704-68757705
39 CPT1A NM_001876.4(CPT1A):c.693+1G>A SNV Likely pathogenic 946554 GRCh37: 11:68566685-68566685
GRCh38: 11:68799217-68799217
40 CPT1A NM_001876.4(CPT1A):c.694-2A>G SNV Likely pathogenic 555179 rs1555230518 GRCh37: 11:68564403-68564403
GRCh38: 11:68796935-68796935
41 CPT1A NM_001876.4(CPT1A):c.772-1G>A SNV Likely pathogenic 555600 rs1555230326 GRCh37: 11:68562380-68562380
GRCh38: 11:68794912-68794912
42 CPT1A NM_001876.4(CPT1A):c.1876-1G>C SNV Likely pathogenic 556048 rs80356798 GRCh37: 11:68529156-68529156
GRCh38: 11:68761688-68761688
43 CPT1A NM_001876.4(CPT1A):c.967+2T>C SNV Likely pathogenic 556700 rs1224226554 GRCh37: 11:68560781-68560781
GRCh38: 11:68793313-68793313
44 CPT1A NM_001876.4(CPT1A):c.1576-2A>G SNV Likely pathogenic 558009 rs1555227607 GRCh37: 11:68540899-68540899
GRCh38: 11:68773431-68773431
45 CPT1A NM_001876.4(CPT1A):c.1348_1352+4del Deletion Likely pathogenic 550291 rs1555228640 GRCh37: 11:68549235-68549243
GRCh38: 11:68781767-68781775
46 CPT1A NM_001876.4(CPT1A):c.771+1G>C SNV Likely pathogenic 551055 rs1555230494 GRCh37: 11:68564323-68564323
GRCh38: 11:68796855-68796855
47 CPT1A NM_001876.4(CPT1A):c.1575+1G>A SNV Likely pathogenic 551355 rs1282293820 GRCh37: 11:68542783-68542783
GRCh38: 11:68775315-68775315
48 CPT1A NM_001876.4(CPT1A):c.2028+2T>G SNV Likely pathogenic 553067 rs1555226417 GRCh37: 11:68529001-68529001
GRCh38: 11:68761533-68761533
49 CPT1A NM_001876.4(CPT1A):c.1458+1G>A SNV Likely pathogenic 553735 rs1555228470 GRCh37: 11:68548107-68548107
GRCh38: 11:68780639-68780639
50 CPT1A NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu) SNV Likely pathogenic 9071 rs80356780 GRCh37: 11:68527706-68527706
GRCh38: 11:68760238-68760238

UniProtKB/Swiss-Prot genetic disease variations for Carnitine Palmitoyltransferase I Deficiency:

72 (show all 15)
# Symbol AA change Variation ID SNP ID
1 CPT1A p.Arg123Cys VAR_020546 rs80356775
2 CPT1A p.Cys304Trp VAR_020548 rs80356789
3 CPT1A p.Thr314Ile VAR_020549 rs80356776
4 CPT1A p.Arg357Trp VAR_020550 rs80356777
5 CPT1A p.Glu360Gly VAR_020551 rs80356787
6 CPT1A p.Ala414Val VAR_020553 rs80356790
7 CPT1A p.Asp454Gly VAR_020554 rs80356778
8 CPT1A p.Pro479Leu VAR_020555 rs80356779
9 CPT1A p.Leu484Pro VAR_020556 rs80356793
10 CPT1A p.Tyr498Cys VAR_020557 rs80356791
11 CPT1A p.Gly709Glu VAR_020558 rs28936374
12 CPT1A p.Gly710Glu VAR_020559 rs80356780
13 CPT1A p.Arg316Gly VAR_046767 rs80356796
14 CPT1A p.Phe343Val VAR_046768 rs80356783
15 CPT1A p.Gly465Trp VAR_046769 rs80356784

Expression for Carnitine Palmitoyltransferase I Deficiency

Search GEO for disease gene expression data for Carnitine Palmitoyltransferase I Deficiency.

Pathways for Carnitine Palmitoyltransferase I Deficiency

Pathways related to Carnitine Palmitoyltransferase I Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Fatty acid degradation hsa00071
2 Fatty acid metabolism hsa01212

Pathways related to Carnitine Palmitoyltransferase I Deficiency according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 TMLHE HADHB HADHA CRAT CPT2 CPT1B
2
Show member pathways
12.63 HADHB HADHA CPT2 CPT1B CPT1A ACADVL
3
Show member pathways
12.07 CRAT CPT2 CPT1C CPT1B CPT1A
4
Show member pathways
12.06 HADHB HADHA CPT2 CPT1C CPT1B CPT1A
5 12.02 HADHB HADHA CPT1A ACADM
6
Show member pathways
11.87 TMLHE HADHB HADHA ACADS ACADM
7 11.75 CPT1C CPT1B CPT1A
8 11.65 CPT2 CPT1C CPT1B CPT1A ACADM
9 11.55 CPT1C CPT1B CPT1A
10
Show member pathways
11.54 HADHB HADHA ACADVL ACADS ACADM
11 11.31 CPT1B CPT1A
12 11.2 CPT1C CPT1B CPT1A ACADVL ACADM
13
Show member pathways
11.16 HADHA ACADS
14 11.11 HADHA ACADS
15
Show member pathways
11.09 HADHA ACADS
16 11.09 CPT2 CPT1A ACADM
17
Show member pathways
11 HADHB HADHA CRAT CPT2 CPT1B CPT1A
18
Show member pathways
10.86 HADHB HADHA
19 10.69 CPT2 CPT1B CPT1A
20
Show member pathways
10.63 HADHB HADHA ACADM

GO Terms for Carnitine Palmitoyltransferase I Deficiency

Cellular components related to Carnitine Palmitoyltransferase I Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.72 HADHB HADHA CRAT CPT2 ACADVL
2 mitochondrial outer membrane GO:0005741 9.56 HADHB CPT1C CPT1B CPT1A
3 mitochondrion GO:0005739 9.4 TMLHE HADHB HADHA CRAT CPT2 CPT1C
4 mitochondrial matrix GO:0005759 9.35 TMLHE BLOC1S1 ACADVL ACADS ACADM
5 mitochondrial nucleoid GO:0042645 9.33 HADHB HADHA ACADVL

Biological processes related to Carnitine Palmitoyltransferase I Deficiency according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.96 HADHB HADHA CRAT CPT2 CPT1C CPT1B
2 oxidation-reduction process GO:0055114 9.91 TMLHE HADHA ACADVL ACADS ACADM
3 regulation of lipid metabolic process GO:0019216 9.67 CPT2 CPT1A ACADM
4 fatty acid beta-oxidation GO:0006635 9.61 HADHB HADHA CPT2 CPT1C CPT1B CPT1A
5 carnitine metabolic process GO:0009437 9.55 CPT2 CPT1C CPT1B CPT1A ACADM
6 response to cold GO:0009409 9.54 ACADVL ACADM
7 carnitine shuttle GO:0006853 9.54 CPT2 CPT1B CPT1A
8 long-chain fatty acid metabolic process GO:0001676 9.52 CPT2 CPT1A
9 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.5 ACADVL ACADS ACADM
10 cardiolipin acyl-chain remodeling GO:0035965 9.48 HADHB HADHA
11 medium-chain fatty acid metabolic process GO:0051791 9.46 CRAT ACADM
12 carnitine biosynthetic process GO:0045329 9.43 TMLHE ACADM
13 carnitine metabolic process, CoA-linked GO:0019254 9.4 CRAT ACADM
14 fatty acid metabolic process GO:0006631 9.32 HADHB HADHA CRAT CPT2 CPT1C CPT1B

Molecular functions related to Carnitine Palmitoyltransferase I Deficiency according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 10 HADHB HADHA CRAT CPT2 CPT1C CPT1B
2 oxidoreductase activity GO:0016491 9.83 TMLHE HADHA ACADVL ACADS ACADM
3 flavin adenine dinucleotide binding GO:0050660 9.54 ACADVL ACADS ACADM
4 fatty-acyl-CoA binding GO:0000062 9.49 HADHA ACADVL
5 enoyl-CoA hydratase activity GO:0004300 9.48 HADHB HADHA
6 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.43 ACADVL ACADS ACADM
7 transferase activity, transferring acyl groups GO:0016746 9.43 HADHB CRAT CPT2 CPT1C CPT1B CPT1A
8 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.4 HADHB HADHA
9 acyl-CoA dehydrogenase activity GO:0003995 9.33 ACADVL ACADS ACADM
10 acetyl-CoA C-acyltransferase activity GO:0003988 9.32 HADHB HADHA
11 carnitine O-palmitoyltransferase activity GO:0004095 8.92 CPT2 CPT1C CPT1B CPT1A

Sources for Carnitine Palmitoyltransferase I 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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