MCID: CPT003
MIFTS: 42

Cpt Deficiency, Hepatic, Type Ia

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

Aliases & Classifications for Cpt Deficiency, Hepatic, Type Ia

MalaCards integrated aliases for Cpt Deficiency, Hepatic, Type Ia:

Name: Cpt Deficiency, Hepatic, Type Ia 54 13
Cpt1a Deficiency 12 23 50 24 56 71
Carnitine Palmitoyltransferase I Deficiency 12 25 71 29 52
Hepatic Carnitine Palmitoyl Transferase 1 Deficiency 12 50 56
Hepatic Carnitine Palmitoyl Transferase I Deficiency 12 50 56
Hepatic Carnitine Palmitoyltransferase 1 Deficiency 23 50 24
Carnitine Palmitoyl Transferase 1a Deficiency 12 56 69
Carnitine Palmitoyl Transferase Ia Deficiency 12 50 56
Carnitine Palmitoyltransferase 1a Deficiency 23 50 71
L-Cpt1 Deficiency 12 50 56
Carnitine Palmitoyl Transferase 1 Deficiency 50 29
Carnitine Palmitoyltransferase Ia Deficiency 24 25
L-Cpt 1 Deficiency 50 24
L-Cpti Deficiency 50 56
Cpt 1a Deficiency 24 25
Cpt I Deficiency 12 25
Hepatic Cpt1 50 24
Liver Form of Carnitine Palmitoyltransferase Deficiency 25
Carnitine Palmitoyltransferase I, Liver 13
Cpt Deficiency, Hepatic, Type I 25
Hepatic Cpt Deficiency Type I 12
Cpt-I Deficiency 71
Cpt1ad 71

Characteristics:

Orphanet epidemiological data:

56
carnitine palmitoyl transferase 1a deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

32
cpt deficiency, hepatic, type ia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Inborn errors of metabolism


Summaries for Cpt Deficiency, Hepatic, Type Ia

NIH Rare Diseases : 50 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. last updated: 11/11/2016

MalaCards based summary : Cpt Deficiency, Hepatic, Type Ia, also known as cpt1a deficiency, is related to carnitine palmitoyltransferase i deficiency , muscle and hepatitis, and has symptoms including hepatomegaly, seizures and lethargy. An important gene associated with Cpt Deficiency, Hepatic, Type Ia is CPT1A (Carnitine Palmitoyltransferase 1A), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and AMP-activated Protein Kinase (AMPK) Signaling. Affiliated tissues include liver, kidney and skeletal muscle.

UniProtKB/Swiss-Prot : 71 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.

Genetics Home Reference : 25 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 : 54
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)

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.

Wikipedia : 72 Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from... more...

GeneReviews: NBK1527

Related Diseases for Cpt Deficiency, Hepatic, Type Ia

Diseases related to Cpt Deficiency, Hepatic, Type Ia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 carnitine palmitoyltransferase i deficiency , muscle 12.2
2 hepatitis 10.3
3 renal tubular acidosis 9.9
4 warburg micro syndrome 9.5 CPT1A CPT1B
5 vitamin b12-responsive methylmalonic acidemia 9.4 CPT1A CPT1B
6 cutis laxa, autosomal recessive, type ib 9.2 CPT1A CPT1B

Graphical network of the top 20 diseases related to Cpt Deficiency, Hepatic, Type Ia:



Diseases related to Cpt Deficiency, Hepatic, Type Ia

Symptoms & Phenotypes for Cpt Deficiency, Hepatic, Type Ia

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
seizures
lethargy
coma
encephalopathy, recurrent

Abdomen- Liver:
hepatomegaly

Metabolic Features:
hypoketotic hypoglycemia
renal tubular acidosis

Muscle Soft Tissue:
muscle weakness is not a feature

Abdomen- Gastroin testinal:
diarrhea
poor feeding

Cardiovascular- Heart:
cardiomegaly
cardiac rhythm disturbances

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


Clinical features from OMIM:

255120

Human phenotypes related to Cpt Deficiency, Hepatic, Type Ia:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002240
2 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 lethargy 56 32 frequent (33%) Frequent (79-30%) HP:0001254
4 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
5 hypertrophic cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001639
6 coma 56 32 frequent (33%) Frequent (79-30%) HP:0001259
7 hypoglycemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001943
8 renal tubular acidosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001947
9 arrhythmia 56 32 Occasional (29-5%) HP:0011675
10 sudden cardiac death 56 32 occasional (7.5%) Occasional (29-5%) HP:0001645
11 hepatic failure 56 32 hallmark (90%) Very frequent (99-80%) HP:0001399
12 muscular hypotonia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001252
13 transient hyperlipidemia 56 32 frequent (33%) Frequent (79-30%) HP:0008279
14 elevated hepatic transaminases 56 32 hallmark (90%) Very frequent (99-80%) HP:0002910
15 neurological speech impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0002167
16 behavioral abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0000708
17 skeletal muscle atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0003202
18 hemiplegia/hemiparesis 56 32 frequent (33%) Frequent (79-30%) HP:0004374
19 reduced tendon reflexes 56 32 hallmark (90%) Very frequent (99-80%) HP:0001315
20 loss of consciousness 56 32 frequent (33%) Frequent (79-30%) HP:0007185
21 diarrhea 32 HP:0002014
22 cardiomegaly 32 HP:0001640
23 hypoketotic hypoglycemia 32 HP:0001985
24 hyperammonemia 32 HP:0001987
25 hepatic steatosis 32 HP:0001397
26 feeding difficulties in infancy 32 HP:0008872
27 abnormality of metabolism/homeostasis 56 Very frequent (99-80%)
28 elevated serum creatine phosphokinase 32 HP:0003236
29 prenatal maternal abnormality 32 HP:0002686
30 recurrent encephalopathy 32 HP:0007335

UMLS symptoms related to Cpt Deficiency, Hepatic, Type Ia:


diarrhea, lethargy, seizures

Drugs & Therapeutics for Cpt Deficiency, Hepatic, Type Ia

Search Clinical Trials , NIH Clinical Center for Cpt Deficiency, Hepatic, Type Ia

Genetic Tests for Cpt Deficiency, Hepatic, Type Ia

Genetic tests related to Cpt Deficiency, Hepatic, Type Ia:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase I Deficiency 29
2 Carnitine Palmitoyl Transferase 1 Deficiency 29
3 Carnitine Palmitoyltransferase Ia Deficiency 24 CPT1A

Anatomical Context for Cpt Deficiency, Hepatic, Type Ia

MalaCards organs/tissues related to Cpt Deficiency, Hepatic, Type Ia:

39
Liver, Kidney, Skeletal Muscle

Publications for Cpt Deficiency, Hepatic, Type Ia

Variations for Cpt Deficiency, Hepatic, Type Ia

UniProtKB/Swiss-Prot genetic disease variations for Cpt Deficiency, Hepatic, Type Ia:

71 (show all 15)
id 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 rs28936372
6 CPT1A p.Ala414Val VAR_020553 rs28936373
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 Cpt Deficiency, Hepatic, Type Ia:

6 (show all 49)
id Gene Variation Type Significance SNP ID Assembly Location
1 CPT1A NM_001876.3(CPT1A): c.1361A> G (p.Asp454Gly) single nucleotide variant Pathogenic rs80356778 GRCh37 Chromosome 11, 68548205: 68548205
2 CPT1A NM_001876.3(CPT1A): c.1079A> G (p.Glu360Gly) single nucleotide variant Pathogenic rs80356787 GRCh37 Chromosome 11, 68552367: 68552367
3 CPT1A NM_001876.3(CPT1A): c.298C> T (p.Gln100Ter) single nucleotide variant Pathogenic rs80356774 GRCh37 Chromosome 11, 68575090: 68575090
4 CPT1A NG_011801.1: g.72149_72150delTT deletion Pathogenic GRCh38 Chromosome 11, 68774782: 68774783
5 CPT1A NM_001876.3(CPT1A): c.1241C> T (p.Ala414Val) single nucleotide variant Pathogenic rs80356790 GRCh37 Chromosome 11, 68549350: 68549350
6 CPT1A NM_001876.3(CPT1A): c.1493A> G (p.Tyr498Cys) single nucleotide variant Pathogenic rs80356791 GRCh37 Chromosome 11, 68542866: 68542866
7 CPT1A NM_001876.3(CPT1A): c.1876-1G> A (p.Val626_Glu676del) single nucleotide variant Pathogenic/Likely pathogenic rs80356798 GRCh38 Chromosome 11, 68761688: 68761688
8 CPT1A NM_001876.3(CPT1A): c.(?_1744)_2107del (p.(?)) deletion Pathogenic GRCh37 Chromosome 11, 68527728: 68536100
9 CPT1A NM_001876.3(CPT1A): c.2126G> A (p.Gly709Glu) single nucleotide variant Pathogenic rs28936374 GRCh37 Chromosome 11, 68527709: 68527709
10 CPT1A NM_001031847.2(CPT1A): c.948delG (p.Ile317Serfs) deletion Pathogenic rs80356800 GRCh37 Chromosome 11, 68560802: 68560802
11 CPT1A NM_001876.3(CPT1A): c.2129G> A (p.Gly710Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80356780 GRCh37 Chromosome 11, 68527706: 68527706
12 NG_011801.1: g.73667+?_86672del deletion Pathogenic
13 CPT1A NM_001876.3(CPT1A): c.1027T> G (p.Phe343Val) single nucleotide variant Pathogenic rs80356783 GRCh37 Chromosome 11, 68552419: 68552419
14 CPT1A NM_001876.3(CPT1A): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs80356777 GRCh37 Chromosome 11, 68552377: 68552377
15 CPT1A NM_001876.3(CPT1A): c.1339C> T (p.Arg447Ter) single nucleotide variant Pathogenic rs397515543 GRCh37 Chromosome 11, 68549252: 68549252
16 CPT1A NM_001876.3(CPT1A): c.1393G> T (p.Gly465Trp) single nucleotide variant Pathogenic rs80356784 GRCh37 Chromosome 11, 68548173: 68548173
17 CPT1A NM_001876.3(CPT1A): c.1425G> A (p.Trp475Ter) single nucleotide variant Pathogenic rs80356794 GRCh37 Chromosome 11, 68548141: 68548141
18 CPT1A NM_001876.3(CPT1A): c.1436C> T (p.Pro479Leu) single nucleotide variant Pathogenic rs80356779 GRCh37 Chromosome 11, 68548130: 68548130
19 CPT1A NM_001876.3(CPT1A): c.1451T> C (p.Leu484Pro) single nucleotide variant Pathogenic rs80356793 GRCh37 Chromosome 11, 68548115: 68548115
20 CPT1A NM_001876.3(CPT1A): c.1494T> A (p.Tyr498Ter) single nucleotide variant Pathogenic rs80356795 GRCh37 Chromosome 11, 68542865: 68542865
21 CPT1A NM_001876.3(CPT1A): c.1494T> G (p.Tyr498Ter) single nucleotide variant Pathogenic rs80356795 GRCh37 Chromosome 11, 68542865: 68542865
22 CPT1A NM_001876.3(CPT1A): c.1600delC (p.Leu534Terfs) deletion Pathogenic rs80356801 GRCh37 Chromosome 11, 68540873: 68540873
23 CPT1A NM_001876.3(CPT1A): c.1737C> A (p.Tyr579Ter) single nucleotide variant Pathogenic rs80356785 GRCh37 Chromosome 11, 68540736: 68540736
24 CPT1A NM_001876.3(CPT1A): c.2027_2028+2delAAGT deletion Pathogenic rs80356799 GRCh37 Chromosome 11, 68529001: 68529004
25 CPT1A NM_001876.3(CPT1A): c.2156G> A (p.Gly719Asp) single nucleotide variant Pathogenic rs397515544 GRCh37 Chromosome 11, 68527116: 68527116
26 CPT1A NM_001876.3(CPT1A): c.478C> T (p.Arg160Ter) single nucleotide variant Pathogenic rs80356782 GRCh37 Chromosome 11, 68571545: 68571545
27 CPT1A NM_001876.3(CPT1A): c.912C> G (p.Cys304Trp) single nucleotide variant Pathogenic rs80356789 GRCh37 Chromosome 11, 68560838: 68560838
28 CPT1A NM_001876.3(CPT1A): c.941C> T (p.Thr314Ile) single nucleotide variant Pathogenic rs80356776 GRCh37 Chromosome 11, 68560809: 68560809
29 CPT1A NM_001876.3: c.946C> G? undetermined variant Pathogenic
30 CPT1A NM_001876.3(CPT1A): c.96T> G (p.Tyr32Ter) single nucleotide variant Pathogenic rs80356786 GRCh37 Chromosome 11, 68582847: 68582847
31 CPT1A NM_001876.3: c.986C> T single nucleotide variant Pathogenic
32 CPT1A NM_001031847.2(CPT1A): c.222C> A (p.Tyr74Ter) single nucleotide variant Pathogenic rs398123654 GRCh37 Chromosome 11, 68579964: 68579964
33 CPT1A NM_001031847.2(CPT1A): c.281+1G> A single nucleotide variant Pathogenic rs191107774 GRCh37 Chromosome 11, 68579904: 68579904
34 CPT1A NM_001876.3(CPT1A): c.1364A> C (p.Lys455Thr) single nucleotide variant Likely pathogenic rs189174414 GRCh38 Chromosome 11, 68780734: 68780734
35 CPT1A NM_001031847.2(CPT1A): c.548_549delTG (p.Val183Glufs) deletion Pathogenic rs886042250 GRCh37 Chromosome 11, 68571474: 68571475
36 CPT1A NM_001876.3(CPT1A): c.2071C> T (p.Gln691Ter) single nucleotide variant Likely pathogenic rs765161206 GRCh38 Chromosome 11, 68760296: 68760296
37 CPT1A NM_001876.3(CPT1A): c.1997_1998insAAAA (p.Tyr666Terfs) insertion Likely pathogenic rs1057516800 GRCh37 Chromosome 11, 68529033: 68529034
38 CPT1A NM_001876.3(CPT1A): c.1711C> T (p.Gln571Ter) single nucleotide variant Likely pathogenic rs1057516586 GRCh37 Chromosome 11, 68540762: 68540762
39 CPT1A NM_001876.3(CPT1A): c.1459-1G> A single nucleotide variant Likely pathogenic rs1057517046 GRCh37 Chromosome 11, 68542901: 68542901
40 CPT1A NM_001876.3(CPT1A): c.1386delC (p.Phe462Leufs) deletion Likely pathogenic rs753776604 GRCh37 Chromosome 11, 68548180: 68548180
41 CPT1A NM_001876.3(CPT1A): c.1298delA (p.Asp433Valfs) deletion Likely pathogenic rs1057516304 GRCh38 Chromosome 11, 68781825: 68781825
42 CPT1A NM_001876.3(CPT1A): c.1163+1G> A single nucleotide variant Likely pathogenic rs148059333 GRCh37 Chromosome 11, 68552282: 68552282
43 CPT1A NM_001876.3(CPT1A): c.967+1G> A single nucleotide variant Likely pathogenic rs112498048 GRCh38 Chromosome 11, 68793314: 68793314
44 CPT1A NM_001876.3(CPT1A): c.919C> T (p.Gln307Ter) single nucleotide variant Likely pathogenic rs1057516396 GRCh37 Chromosome 11, 68560831: 68560831
45 CPT1A NM_001876.3(CPT1A): c.772-2A> G single nucleotide variant Likely pathogenic rs1057517245 GRCh38 Chromosome 11, 68794913: 68794913
46 CPT1A NM_001876.3(CPT1A): c.727C> T (p.Arg243Ter) single nucleotide variant Likely pathogenic rs779893091 GRCh38 Chromosome 11, 68796900: 68796900
47 CPT1A NM_001876.3(CPT1A): c.693+1G> C single nucleotide variant Likely pathogenic rs1055176086 GRCh37 Chromosome 11, 68566685: 68566685
48 CPT1A NM_001876.3(CPT1A): c.282-1G> A single nucleotide variant Likely pathogenic rs1057517188 GRCh38 Chromosome 11, 68807639: 68807639
49 CPT1A NM_001876.3(CPT1A): c.186G> A (p.Trp62Ter) single nucleotide variant Likely pathogenic rs1057516434 GRCh38 Chromosome 11, 68812532: 68812532

Expression for Cpt Deficiency, Hepatic, Type Ia

Search GEO for disease gene expression data for Cpt Deficiency, Hepatic, Type Ia.

Pathways for Cpt Deficiency, Hepatic, Type Ia

Pathways related to Cpt Deficiency, Hepatic, Type Ia according to GeneCards Suite gene sharing:

(show all 13)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 CPT1A CPT1B
2
Show member pathways
11.93 CPT1A CPT1B
3
Show member pathways
11.73 CPT1A CPT1B
4
Show member pathways
11.51 CPT1A CPT1B
5 11.47 CPT1A CPT1B
6
Show member pathways
11.4 CPT1A CPT1B
7 11.26 CPT1A CPT1B
8 11.21 CPT1A CPT1B
9
Show member pathways
11.14 CPT1A CPT1B
10
Show member pathways
10.98 CPT1A CPT1B
11 10.87 CPT1A CPT1B
12 10.6 CPT1A CPT1B
13 9.66 CPT1A CPT1B

GO Terms for Cpt Deficiency, Hepatic, Type Ia

Cellular components related to Cpt Deficiency, Hepatic, Type Ia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 8.96 CPT1A CPT1B
2 mitochondrial outer membrane GO:0005741 8.62 CPT1A CPT1B

Biological processes related to Cpt Deficiency, Hepatic, Type Ia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.26 CPT1A CPT1B
2 fatty acid metabolic process GO:0006631 9.16 CPT1A CPT1B
3 fatty acid beta-oxidation GO:0006635 8.96 CPT1A CPT1B
4 carnitine shuttle GO:0006853 8.62 CPT1A CPT1B

Molecular functions related to Cpt Deficiency, Hepatic, Type Ia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring acyl groups GO:0016746 8.96 CPT1A CPT1B
2 carnitine O-palmitoyltransferase activity GO:0004095 8.62 CPT1A CPT1B

Sources for Cpt Deficiency, Hepatic, Type Ia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
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55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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