CPT1AD
MCID: CRN295
MIFTS: 54

Carnitine Palmitoyltransferase I Deficiency (CPT1AD)

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

Aliases & Classifications for Carnitine Palmitoyltransferase I Deficiency

MalaCards integrated aliases for Carnitine Palmitoyltransferase I Deficiency:

Name: Carnitine Palmitoyltransferase I Deficiency 58 12 77 26 76 38 30 56 6 15 41
Cpt1a Deficiency 12 25 54 60 76
Hepatic Carnitine Palmitoyl Transferase 1 Deficiency 12 54 60
Hepatic Carnitine Palmitoyl Transferase I Deficiency 12 54 60
Carnitine Palmitoyl Transferase 1a Deficiency 12 60 74
Carnitine Palmitoyl Transferase Ia Deficiency 12 54 60
Carnitine Palmitoyltransferase 1a Deficiency 25 54 76
Carnitine Palmitoyl Transferase 1 Deficiency 54 30 6
L-Cpt1 Deficiency 12 54 60
Cpt I Deficiency 58 12 26
Hepatic Carnitine Palmitoyltransferase 1 Deficiency 25 54
Carnitine Palmitoyltransferase Ia Deficiency 58 26
Cpt Deficiency, Hepatic, Type Ia 58 13
Cpt Deficiency, Hepatic, Type I 58 26
L-Cpti Deficiency 54 60
Liver Form of Carnitine Palmitoyltransferase Deficiency 26
Carnitine Palmitoyltransferase I, Liver 13
Hepatic Cpt Deficiency Type I 12
L-Cpt 1 Deficiency 54
Cpt 1a Deficiency 26
Cpt-I Deficiency 76
Hepatic Cpt1 54
Cpt1ad 76

Characteristics:

Orphanet epidemiological data:

60
carnitine palmitoyl transferase 1a deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
carnitine palmitoyltransferase i deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Carnitine Palmitoyltransferase I Deficiency

NIH Rare Diseases : 54 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.

MalaCards based summary : Carnitine Palmitoyltransferase I Deficiency, also known as cpt1a deficiency, is related to reye syndrome and visceral steatosis, and has symptoms including seizures, diarrhea and lethargy. 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, kidney and skeletal muscle, and related phenotypes are seizures and muscular hypotonia

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

Genetics Home Reference : 26 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.

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 Carnitine palmitoyltransferase I deficiency (CPT-I, CPT1) is a rare metabolic disorder that prevents the... more...

GeneReviews: NBK1527

Related Diseases for Carnitine Palmitoyltransferase I Deficiency

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:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
3 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
4 behavioral abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000708
5 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
6 hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001943
7 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
8 reduced tendon reflexes 60 33 hallmark (90%) Very frequent (99-80%) HP:0001315
9 hepatic failure 60 33 hallmark (90%) Very frequent (99-80%) HP:0001399
10 elevated hepatic transaminase 33 hallmark (90%) HP:0002910
11 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
12 hemiplegia/hemiparesis 60 33 frequent (33%) Frequent (79-30%) HP:0004374
13 coma 60 33 frequent (33%) Frequent (79-30%) HP:0001259
14 lethargy 60 33 frequent (33%) Frequent (79-30%) HP:0001254
15 loss of consciousness 60 33 frequent (33%) Frequent (79-30%) HP:0007185
16 transient hyperlipidemia 60 33 frequent (33%) Frequent (79-30%) HP:0008279
17 sudden cardiac death 60 33 occasional (7.5%) Occasional (29-5%) HP:0001645
18 hypertrophic cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001639
19 renal tubular acidosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001947
20 arrhythmia 60 33 Occasional (29-5%) HP:0011675
21 feeding difficulties in infancy 33 HP:0008872
22 cardiomegaly 33 HP:0001640
23 abnormality of metabolism/homeostasis 60 Very frequent (99-80%)
24 hepatic steatosis 33 HP:0001397
25 elevated hepatic transaminases 60 Very frequent (99-80%)
26 diarrhea 33 HP:0002014
27 hyperammonemia 33 HP:0001987
28 generalized hypotonia 33 HP:0001290
29 hypoketotic hypoglycemia 33 HP:0001985
30 prenatal maternal abnormality 33 HP:0002686
31 elevated serum creatine kinase 33 HP:0003236
32 recurrent encephalopathy 33 HP:0007335

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
coma
lethargy
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

UMLS symptoms related to Carnitine Palmitoyltransferase I Deficiency:


seizures, diarrhea, lethargy

MGI Mouse Phenotypes related to Carnitine Palmitoyltransferase I Deficiency:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.03 ACADM ACADVL CPT1A CPT1B CPT1C CPT2
2 cellular MP:0005384 10.02 ACADVL CPT1A CPT1C CRAT DNMT3A HADH
3 cardiovascular system MP:0005385 10.01 ACADM ACADVL CPT1A CPT2 CRAT HADHA
4 growth/size/body region MP:0005378 9.97 ACADVL CPT1C CRAT DNMT3A HADH HADHA
5 mortality/aging MP:0010768 9.65 ACADM ACADVL CPT1A CPT1B CPT2 DNMT3A
6 liver/biliary system MP:0005370 9.63 ACADM ACADVL CPT1C HADHA MAPK1 MAPK14
7 muscle MP:0005369 9.23 ACADM ACADVL CPT1C CRAT DNMT3A HADHA

Drugs & Therapeutics for Carnitine Palmitoyltransferase I Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Metabolic Consequences of CPT-1 Deficiency Completed NCT00653666 Not Applicable

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 I Deficiency 30 CPT1A
2 Carnitine Palmitoyl Transferase 1 Deficiency 30

Anatomical Context for Carnitine Palmitoyltransferase I Deficiency

MalaCards organs/tissues related to Carnitine Palmitoyltransferase I Deficiency:

42
Liver, Kidney, Skeletal Muscle

Publications for Carnitine Palmitoyltransferase I Deficiency

Articles related to Carnitine Palmitoyltransferase I Deficiency:

(show all 12)
# Title Authors Year
1
Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency. ( 17160614 )
2007
2
Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency. ( 16146704 )
2005
3
Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency. ( 15110323 )
2004
4
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutation. ( 15669684 )
2004
5
[Carnitine palmitoyltransferase I deficiency]. ( 12013979 )
2002
6
Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency. ( 11757589 )
2001
7
Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. ( 11568084 )
2001
8
Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile. ( 11286383 )
2001
9
Postoperative coma in a child with carnitine palmitoyltransferase I deficiency. ( 11226093 )
2001
10
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. ( 10625081 )
2000
11
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. ( 9691089 )
1998
12
Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. ( 7877875 )
1994

Variations for Carnitine Palmitoyltransferase I Deficiency

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

76 (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

ClinVar genetic disease variations for Carnitine Palmitoyltransferase I Deficiency:

6 (show top 50) (show all 179)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPT1A NM_001876.3(CPT1A): c.1364A> C (p.Lys455Thr) single nucleotide variant Likely pathogenic rs189174414 GRCh38 Chromosome 11, 68780734: 68780734
2 CPT1A NM_001876.3(CPT1A): c.1364A> C (p.Lys455Thr) single nucleotide variant Likely pathogenic rs189174414 GRCh37 Chromosome 11, 68548202: 68548202
3 CPT1A NM_001876.3(CPT1A): c.2004T> C (p.Ala668=) single nucleotide variant Benign rs2228503 GRCh38 Chromosome 11, 68761559: 68761559
4 CPT1A NM_001876.3(CPT1A): c.2004T> C (p.Ala668=) single nucleotide variant Benign rs2228503 GRCh37 Chromosome 11, 68529027: 68529027
5 CPT1A NM_001876.3(CPT1A): c.1941C> G (p.Ala647=) single nucleotide variant Benign rs115731492 GRCh37 Chromosome 11, 68529090: 68529090
6 CPT1A NM_001876.3(CPT1A): c.1941C> G (p.Ala647=) single nucleotide variant Benign rs115731492 GRCh38 Chromosome 11, 68761622: 68761622
7 CPT1A NM_001876.3(CPT1A): c.863G> A (p.Arg288Gln) single nucleotide variant Benign rs140958507 GRCh37 Chromosome 11, 68562288: 68562288
8 CPT1A NM_001876.3(CPT1A): c.863G> A (p.Arg288Gln) single nucleotide variant Benign rs140958507 GRCh38 Chromosome 11, 68794820: 68794820
9 CPT1A NM_001876.3(CPT1A): c.240G> A (p.Ser80=) single nucleotide variant Benign rs61731904 GRCh38 Chromosome 11, 68812478: 68812478
10 CPT1A NM_001876.3(CPT1A): c.240G> A (p.Ser80=) single nucleotide variant Benign rs61731904 GRCh37 Chromosome 11, 68579946: 68579946
11 CPT1A NM_001876.3(CPT1A): c.1361A> G (p.Asp454Gly) single nucleotide variant Pathogenic rs80356778 GRCh37 Chromosome 11, 68548205: 68548205
12 CPT1A NM_001876.3(CPT1A): c.1361A> G (p.Asp454Gly) single nucleotide variant Pathogenic rs80356778 GRCh38 Chromosome 11, 68780737: 68780737
13 CPT1A NM_001876.3(CPT1A): c.1079A> G (p.Glu360Gly) single nucleotide variant Pathogenic rs80356787 GRCh37 Chromosome 11, 68552367: 68552367
14 CPT1A NM_001876.3(CPT1A): c.1079A> G (p.Glu360Gly) single nucleotide variant Pathogenic rs80356787 GRCh38 Chromosome 11, 68784899: 68784899
15 CPT1A NM_001876.3(CPT1A): c.298C> T (p.Gln100Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80356774 GRCh37 Chromosome 11, 68575090: 68575090
16 CPT1A NM_001876.3(CPT1A): c.298C> T (p.Gln100Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80356774 GRCh38 Chromosome 11, 68807622: 68807622
17 CPT1A NG_011801.1: g.72149_72150delTT deletion Pathogenic rs1169875761 GRCh38 Chromosome 11, 68774782: 68774783
18 CPT1A NG_011801.1: g.72149_72150delTT deletion Pathogenic rs1169875761 GRCh37 Chromosome 11, 68542250: 68542251
19 CPT1A NM_001876.3(CPT1A): c.1241C> T (p.Ala414Val) single nucleotide variant Pathogenic rs80356790 GRCh37 Chromosome 11, 68549350: 68549350
20 CPT1A NM_001876.3(CPT1A): c.1241C> T (p.Ala414Val) single nucleotide variant Pathogenic rs80356790 GRCh38 Chromosome 11, 68781882: 68781882
21 CPT1A NM_001876.3(CPT1A): c.1493A> G (p.Tyr498Cys) single nucleotide variant Uncertain significance rs80356791 GRCh37 Chromosome 11, 68542866: 68542866
22 CPT1A NM_001876.3(CPT1A): c.1493A> G (p.Tyr498Cys) single nucleotide variant Uncertain significance rs80356791 GRCh38 Chromosome 11, 68775398: 68775398
23 CPT1A NM_001876.3(CPT1A): c.1876-1G> A (p.Val626_Glu676del) single nucleotide variant Likely pathogenic rs80356798 GRCh38 Chromosome 11, 68761688: 68761688
24 CPT1A NM_001876.3(CPT1A): c.1876-1G> A (p.Val626_Glu676del) single nucleotide variant Likely pathogenic rs80356798 GRCh37 Chromosome 11, 68529156: 68529156
25 CPT1A NM_001876.3(CPT1A): c.(?_1744)_2107del (p.(?)) deletion Pathogenic GRCh37 Chromosome 11, 68527728: 68536100
26 CPT1A NM_001876.3(CPT1A): c.(?_1744)_2107del (p.(?)) deletion Pathogenic GRCh38 Chromosome 11, 68760260: 68768632
27 CPT1A NM_001876.3(CPT1A): c.2126G> A (p.Gly709Glu) single nucleotide variant Pathogenic rs28936374 GRCh37 Chromosome 11, 68527709: 68527709
28 CPT1A NM_001876.3(CPT1A): c.2126G> A (p.Gly709Glu) single nucleotide variant Pathogenic rs28936374 GRCh38 Chromosome 11, 68760241: 68760241
29 CPT1A NM_001031847.2(CPT1A): c.948delG (p.Ile317Serfs) deletion Pathogenic rs80356800 GRCh37 Chromosome 11, 68560802: 68560802
30 CPT1A NM_001031847.2(CPT1A): c.948delG (p.Ile317Serfs) deletion Pathogenic rs80356800 GRCh38 Chromosome 11, 68793334: 68793334
31 CPT1A NM_001876.3(CPT1A): c.2129G> A (p.Gly710Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80356780 GRCh37 Chromosome 11, 68527706: 68527706
32 CPT1A NM_001876.3(CPT1A): c.2129G> A (p.Gly710Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80356780 GRCh38 Chromosome 11, 68760238: 68760238
33 NG_011801.1: g.73667+?_86672del deletion Pathogenic
34 CPT1A NM_001876.3(CPT1A): c.1027T> G (p.Phe343Val) single nucleotide variant Pathogenic rs80356783 GRCh37 Chromosome 11, 68552419: 68552419
35 CPT1A NM_001876.3(CPT1A): c.1027T> G (p.Phe343Val) single nucleotide variant Pathogenic rs80356783 GRCh38 Chromosome 11, 68784951: 68784951
36 CPT1A NM_001876.3(CPT1A): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs80356777 GRCh37 Chromosome 11, 68552377: 68552377
37 CPT1A NM_001876.3(CPT1A): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs80356777 GRCh38 Chromosome 11, 68784909: 68784909
38 CPT1A NM_001876.3(CPT1A): c.1339C> T (p.Arg447Ter) single nucleotide variant Pathogenic rs397515543 GRCh37 Chromosome 11, 68549252: 68549252
39 CPT1A NM_001876.3(CPT1A): c.1339C> T (p.Arg447Ter) single nucleotide variant Pathogenic rs397515543 GRCh38 Chromosome 11, 68781784: 68781784
40 CPT1A NM_001876.3(CPT1A): c.1393G> T (p.Gly465Trp) single nucleotide variant Pathogenic rs80356784 GRCh37 Chromosome 11, 68548173: 68548173
41 CPT1A NM_001876.3(CPT1A): c.1393G> T (p.Gly465Trp) single nucleotide variant Pathogenic rs80356784 GRCh38 Chromosome 11, 68780705: 68780705
42 CPT1A NM_001876.3(CPT1A): c.1425G> A (p.Trp475Ter) single nucleotide variant Pathogenic rs80356794 GRCh37 Chromosome 11, 68548141: 68548141
43 CPT1A NM_001876.3(CPT1A): c.1425G> A (p.Trp475Ter) single nucleotide variant Pathogenic rs80356794 GRCh38 Chromosome 11, 68780673: 68780673
44 CPT1A NM_001876.3(CPT1A): c.1436C> T (p.Pro479Leu) single nucleotide variant Pathogenic rs80356779 GRCh37 Chromosome 11, 68548130: 68548130
45 CPT1A NM_001876.3(CPT1A): c.1436C> T (p.Pro479Leu) single nucleotide variant Pathogenic rs80356779 GRCh38 Chromosome 11, 68780662: 68780662
46 CPT1A NM_001876.3(CPT1A): c.1451T> C (p.Leu484Pro) single nucleotide variant Pathogenic rs80356793 GRCh37 Chromosome 11, 68548115: 68548115
47 CPT1A NM_001876.3(CPT1A): c.1451T> C (p.Leu484Pro) single nucleotide variant Pathogenic rs80356793 GRCh38 Chromosome 11, 68780647: 68780647
48 CPT1A NM_001876.3(CPT1A): c.1494T> A (p.Tyr498Ter) single nucleotide variant Pathogenic rs80356795 GRCh37 Chromosome 11, 68542865: 68542865
49 CPT1A NM_001876.3(CPT1A): c.1494T> A (p.Tyr498Ter) single nucleotide variant Pathogenic rs80356795 GRCh38 Chromosome 11, 68775397: 68775397
50 CPT1A NM_001876.3(CPT1A): c.1494T> G (p.Tyr498Ter) single nucleotide variant Pathogenic rs80356795 GRCh37 Chromosome 11, 68542865: 68542865

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:

38
# 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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 ACADM ACADVL CPT1A CPT1B CPT2 CRAT
2
Show member pathways
12.68 ACADM ACADVL CPT1A CPT1B CPT2 HADH
3
Show member pathways
12.21 CPT1A CPT1B CPT1C MAPK1
4 11.98 ACADM CPT1A HADHA
5
Show member pathways
11.97 CPT1A CPT1B CPT1C CPT2 CRAT MAPK14
6
Show member pathways
11.78 ACADM HADH HADHA
7 11.7 CPT1A CPT1B CPT1C
8 11.59 ACADM CPT1A CPT1B CPT1C CPT2
9
Show member pathways
11.55 ACADM ACADVL HADH HADHA
10
Show member pathways
11.54 ACADM ACADVL CPT1A CPT1B CPT1C CPT2
11 11.49 CPT1A CPT1B CPT1C
12 11.28 ACADM ACADVL CPT1A CPT1B CPT1C HADH
13 11.13 ACADM HADHA
14
Show member pathways
11.11 MAPK1 MAPK14
15 11.06 MAPK1 MAPK14
16 11.05 ACADM CPT1A CPT2
17 11.04 MAPK1 MAPK14
18 11.04 MAPK1 MAPK14
19 10.98 MAPK1 MAPK14
20 10.97 MAPK1 MAPK14
21 10.97 MAPK1 MAPK14
22
Show member pathways
10.95 ACADM ACADVL CPT1A CPT1B CPT2 CRAT
23 10.94 MAPK1 MAPK14
24 10.91 MAPK1 MAPK14
25 10.9 MAPK1 MAPK14
26 10.62 CPT1A CPT1B CPT2

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 mitochondrion GO:0005739 9.36 ACADM ACADVL CPT1A CPT1B CPT1C CPT2
2 mitochondrial outer membrane GO:0005741 9.33 CPT1A CPT1B CPT1C
3 mitochondrial inner membrane GO:0005743 9.26 ACADVL CPT2 CRAT HADHA

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.81 ACADM ACADVL CPT1A CPT1B CPT1C CPT2
2 response to drug GO:0042493 9.76 CPT1A DNMT3A HADH HADHA
3 regulation of lipid metabolic process GO:0019216 9.61 ACADM CPT1A CPT2
4 fatty acid metabolic process GO:0006631 9.61 ACADM ACADVL CPT1A CPT1B CPT1C CPT2
5 carnitine metabolic process GO:0009437 9.56 ACADM CPT1A CPT1B CPT1C
6 carnitine shuttle GO:0006853 9.5 CPT1A CPT1B CPT2
7 long-chain fatty acid transport GO:0015909 9.49 CPT1B CPT1C
8 regulation of ossification GO:0030278 9.48 MAPK1 MAPK14
9 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.4 ACADM ACADVL
10 carnitine metabolic process, CoA-linked GO:0019254 9.37 ACADM CRAT
11 fatty acid beta-oxidation GO:0006635 9.23 ACADM ACADVL CPT1A CPT1B CPT1C CPT2

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.76 CPT1A CPT1B CPT1C CPT2 CRAT DNMT3A
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.46 ACADM ACADVL
3 fatty-acyl-CoA binding GO:0000062 9.43 ACADVL HADHA
4 MAP kinase kinase activity GO:0004708 9.4 MAPK1 MAPK14
5 MAP kinase activity GO:0004707 9.37 MAPK1 MAPK14
6 transferase activity, transferring acyl groups GO:0016746 9.35 CPT1A CPT1B CPT1C CPT2 CRAT
7 acyl-CoA dehydrogenase activity GO:0003995 9.32 ACADM ACADVL
8 3-hydroxyacyl-CoA dehydrogenase activity GO:0003857 9.26 HADH HADHA
9 carnitine O-palmitoyltransferase activity GO:0004095 8.92 CPT1A CPT1B CPT1C CPT2

Sources for Carnitine Palmitoyltransferase I Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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