CPT2D
MCID: CRN294
MIFTS: 28

Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced (CPT2D)

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

Aliases & Classifications for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

MalaCards integrated aliases for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced:

Name: Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 58 30 6
Carnitine Palmitoyltransferase Ii Deficiency, Adult-Onset 58 76
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic 58 76
Cpt Ii Deficiency, Myopathic 58 76
Cpt2 Deficiency, Late-Onset 58 76
Carnitine Palmitoyltransferase 2 Deficiency, Myopathic, Stress-Induced 76
Carnitine Palmitoyl Transferase Deficiency Type 2, Adult-Onset Form 60
Carnitine Palmitoyl Transferase Deficiency Type 2, Myopathic Form 60
Carnitine Palmitoyl Transferase Ii Deficiency, Adult-Onset Form 60
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form 60
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset 41
Carnitine Palmitoyltransferase 2 Deficiency, Late-Onset 76
Cpt Ii Deficiency, Myopathic, Stress-Induced 58
Cptii, Adult-Onset Form 60
Cpt2, Adult-Onset Form 60
Cptii, Myopathic Form 60
Cpt2, Myopathic Form 60
Cpt2d 76

Characteristics:

Orphanet epidemiological data:

60
carnitine palmitoyl transferase ii deficiency, myopathic form
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
onset in adolescence or adulthood
triggered by exercise, fasting, or other metabolic stresses
some heterozygous cpt2 mutation carriers may be symptomatic
see also the lethal neonatal and infantile forms


HPO:

33
carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 255110
MeSH 45 D008661
ICD10 via Orphanet 35 E71.3
UMLS via Orphanet 75 C1833508
Orphanet 60 ORPHA228302
MedGen 43 C1833508

Summaries for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

OMIM : 58 Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The myopathic form presents most frequently in children or young adults with muscle pain with or, in most cases, without myoglobinuria with elevation of serum creatine kinase precipitated by strenuous exercise, cold, fever, or prolonged fasting. Severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death (summary by Deschauer et al., 2005 and Longo et al., 2006). See also the lethal neonatal (608836) and infantile (600649) forms of the disorder, which are also caused by mutation in the CPT2 gene. (255110)

MalaCards based summary : Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced, also known as carnitine palmitoyltransferase ii deficiency, adult-onset, is related to carnitine palmitoyltransferase ii deficiency, infantile, and has symptoms including myalgia, muscle cramp and muscular stiffness. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include kidney, and related phenotypes are muscle weakness and myopathy

UniProtKB/Swiss-Prot : 76 Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced: An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death.

Related Diseases for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

Diseases related to Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 carnitine palmitoyltransferase ii deficiency, infantile 11.8

Symptoms & Phenotypes for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

Human phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001324
2 myopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003198
3 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
4 myalgia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003326
5 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
6 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
7 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
8 muscle stiffness 33 HP:0003552
9 abnormality of the musculature 60 Very frequent (99-80%)
10 myoglobinuria 33 HP:0002913
11 rhabdomyolysis 33 HP:0003201
12 muscle spasm 33 HP:0003394

Symptoms via clinical synopsis from OMIM:

58
Muscle Soft Tissue:
muscle stiffness
muscle cramps
rhabdomyolysis
muscle pain
muscle weakness following prolonged exercise

Laboratory Abnormalities:
exercise myoglobinuria
carnitine palmitoyltransferase ii deficiency (25% of controls)
creatine kinase normal between episodes
normal plasma and tissue carnitine
impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise

Genitourinary Kidneys:
renal failure

Clinical features from OMIM:

255110

UMLS symptoms related to Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced:


myalgia, muscle cramp, muscular stiffness

Drugs & Therapeutics for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

Search Clinical Trials , NIH Clinical Center for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced

Genetic Tests for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

Genetic tests related to Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced:

# Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 30 CPT2

Anatomical Context for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

MalaCards organs/tissues related to Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced:

42
Kidney

Publications for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

Articles related to Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced:

(show all 16)
# Title Authors Year
1
Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency. ( 23184072 )
2012
2
A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. ( 17709715 )
2007
3
Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. ( 15622536 )
2005
4
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. ( 12410208 )
2002
5
Antenatal presentation of carnitine palmitoyltransferase II deficiency. ( 11477613 )
2001
6
A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. ( 10873395 )
2000
7
Novel mutations associated with carnitine palmitoyltransferase II deficiency. ( 10090476 )
1999
8
Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency. ( 10398215 )
1999
9
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. ( 8651281 )
1996
10
Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency. ( 8682496 )
1996
11
Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency. ( 8786066 )
1996
12
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. ( 7711730 )
1995
13
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. ( 8358442 )
1993
14
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. ( 1528846 )
1992
15
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. ( 1999498 )
1991
16
Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts. ( 736528 )
1978

Variations for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

UniProtKB/Swiss-Prot genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced:

76 (show all 18)
# Symbol AA change Variation ID SNP ID
1 CPT2 p.Pro50His VAR_001391 rs28936375
2 CPT2 p.Ser113Leu VAR_001392 rs74315294
3 CPT2 p.Glu174Lys VAR_001393 rs28936674
4 CPT2 p.Phe383Tyr VAR_001396 rs74315295
5 CPT2 p.Asp553Asn VAR_001397 rs28936376
6 CPT2 p.Met214Thr VAR_007966 rs515726174
7 CPT2 p.Pro227Leu VAR_007967 rs74315298
8 CPT2 p.Phe448Leu VAR_007968 rs74315297
9 CPT2 p.Tyr479Phe VAR_007969 rs749895856
10 CPT2 p.Arg503Cys VAR_007970 rs74315296
11 CPT2 p.Gly549Asp VAR_007971 rs186044004
12 CPT2 p.Arg151Gln VAR_020540 rs515726177
13 CPT2 p.Tyr210Asp VAR_020541
14 CPT2 p.Arg296Gln VAR_020542 rs764849762
15 CPT2 p.Gln550Arg VAR_020543
16 CPT2 p.Gly600Arg VAR_020544
17 CPT2 p.Pro604Ser VAR_020545
18 CPT2 p.Asp213Gly VAR_037976 rs74315300

ClinVar genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 CPT2 NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys) single nucleotide variant Pathogenic rs74315293 GRCh37 Chromosome 1, 53679181: 53679181
2 CPT2 NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys) single nucleotide variant Pathogenic rs74315293 GRCh38 Chromosome 1, 53213509: 53213509
3 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh37 Chromosome 1, 53668099: 53668099
4 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh38 Chromosome 1, 53202427: 53202427
5 CPT2 NM_000098.2(CPT2): c.149C> A (p.Pro50His) single nucleotide variant Pathogenic rs28936375 GRCh37 Chromosome 1, 53662764: 53662764
6 CPT2 NM_000098.2(CPT2): c.149C> A (p.Pro50His) single nucleotide variant Pathogenic rs28936375 GRCh38 Chromosome 1, 53197092: 53197092
7 CPT2 NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn) single nucleotide variant Uncertain significance rs28936376 GRCh37 Chromosome 1, 53678947: 53678947
8 CPT2 NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn) single nucleotide variant Uncertain significance rs28936376 GRCh38 Chromosome 1, 53213275: 53213275
9 CPT2 NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser) single nucleotide variant Likely pathogenic rs28936673 GRCh37 Chromosome 1, 53679173: 53679173
10 CPT2 NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser) single nucleotide variant Likely pathogenic rs28936673 GRCh38 Chromosome 1, 53213501: 53213501
11 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74315295 GRCh37 Chromosome 1, 53676494: 53676494
12 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74315295 GRCh38 Chromosome 1, 53210822: 53210822
13 CPT2 NM_000098.2(CPT2): c.1507C> T (p.Arg503Cys) single nucleotide variant Likely pathogenic rs74315296 GRCh37 Chromosome 1, 53676853: 53676853
14 CPT2 NM_000098.2(CPT2): c.1507C> T (p.Arg503Cys) single nucleotide variant Likely pathogenic rs74315296 GRCh38 Chromosome 1, 53211181: 53211181
15 CPT2 NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu) single nucleotide variant Conflicting interpretations of pathogenicity, other rs74315297 GRCh37 Chromosome 1, 53676688: 53676688
16 CPT2 NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu) single nucleotide variant Conflicting interpretations of pathogenicity, other rs74315297 GRCh38 Chromosome 1, 53211016: 53211016
17 CPT2 NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter) single nucleotide variant Pathogenic rs74315299 GRCh37 Chromosome 1, 53676706: 53676706
18 CPT2 NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter) single nucleotide variant Pathogenic rs74315299 GRCh38 Chromosome 1, 53211034: 53211034
19 CPT2 NM_000098.2(CPT2): c.638A> G (p.Asp213Gly) single nucleotide variant Pathogenic rs74315300 GRCh37 Chromosome 1, 53675984: 53675984
20 CPT2 NM_000098.2(CPT2): c.638A> G (p.Asp213Gly) single nucleotide variant Pathogenic rs74315300 GRCh38 Chromosome 1, 53210312: 53210312
21 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 GRCh37 Chromosome 1, 53675705: 53675705
22 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 GRCh38 Chromosome 1, 53210033: 53210033
23 CPT2 NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs) deletion Pathogenic rs397509431 GRCh37 Chromosome 1, 53676585: 53676586
24 CPT2 NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs) deletion Pathogenic rs397509431 GRCh38 Chromosome 1, 53210913: 53210914
25 CPT2 NM_000098.2(CPT2): c.1369A> T (p.Lys457Ter) single nucleotide variant Pathogenic/Likely pathogenic rs756931329 GRCh38 Chromosome 1, 53211043: 53211043
26 CPT2 NM_000098.2(CPT2): c.1369A> T (p.Lys457Ter) single nucleotide variant Pathogenic/Likely pathogenic rs756931329 GRCh37 Chromosome 1, 53676715: 53676715
27 CPT2 NM_000098.2(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 GRCh37 Chromosome 1, 53675716: 53675716
28 CPT2 NM_000098.2(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 GRCh38 Chromosome 1, 53210044: 53210044
29 CPT2 NM_000098.2(CPT2): c.54_72dup19 (p.Leu25Glyfs) duplication Likely pathogenic rs1057517510 GRCh38 Chromosome 1, 53196997: 53197015
30 CPT2 NM_000098.2(CPT2): c.54_72dup19 (p.Leu25Glyfs) duplication Likely pathogenic rs1057517510 GRCh37 Chromosome 1, 53662669: 53662687
31 CPT2 NM_000098.2(CPT2): c.75delC (p.Ser26Alafs) deletion Likely pathogenic rs1057517493 GRCh38 Chromosome 1, 53197018: 53197018
32 CPT2 NM_000098.2(CPT2): c.75delC (p.Ser26Alafs) deletion Likely pathogenic rs1057517493 GRCh37 Chromosome 1, 53662690: 53662690
33 CPT2 NM_000098.2(CPT2): c.95delG (p.Gly32Alafs) deletion Likely pathogenic rs1057517494 GRCh38 Chromosome 1, 53197038: 53197038
34 CPT2 NM_000098.2(CPT2): c.95delG (p.Gly32Alafs) deletion Likely pathogenic rs1057517494 GRCh37 Chromosome 1, 53662710: 53662710
35 CPT2 NM_000098.2(CPT2): c.110_111dupGC (p.Ser38Alafs) duplication Likely pathogenic rs754363068 GRCh38 Chromosome 1, 53197053: 53197054
36 CPT2 NM_000098.2(CPT2): c.110_111dupGC (p.Ser38Alafs) duplication Likely pathogenic rs754363068 GRCh37 Chromosome 1, 53662725: 53662726
37 CPT2 NM_000098.2(CPT2): c.606T> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs755830520 GRCh38 Chromosome 1, 53210280: 53210280
38 CPT2 NM_000098.2(CPT2): c.606T> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs755830520 GRCh37 Chromosome 1, 53675952: 53675952
39 CPT2 NM_000098.2(CPT2): c.1046dupA (p.Asn349Lysfs) duplication Likely pathogenic rs1057517515 GRCh38 Chromosome 1, 53210720: 53210720
40 CPT2 NM_000098.2(CPT2): c.1046dupA (p.Asn349Lysfs) duplication Likely pathogenic rs1057517515 GRCh37 Chromosome 1, 53676392: 53676392
41 CPT2 NM_000098.2(CPT2): c.1053G> A (p.Trp351Ter) single nucleotide variant Likely pathogenic rs761438840 GRCh38 Chromosome 1, 53210727: 53210727
42 CPT2 NM_000098.2(CPT2): c.1053G> A (p.Trp351Ter) single nucleotide variant Likely pathogenic rs761438840 GRCh37 Chromosome 1, 53676399: 53676399
43 CPT2 NM_000098.2(CPT2): c.1345C> T (p.Gln449Ter) single nucleotide variant Likely pathogenic rs1057517492 GRCh38 Chromosome 1, 53211019: 53211019
44 CPT2 NM_000098.2(CPT2): c.1345C> T (p.Gln449Ter) single nucleotide variant Likely pathogenic rs1057517492 GRCh37 Chromosome 1, 53676691: 53676691
45 CPT2 NM_000098.2(CPT2): c.1345delCinsTA (p.Gln449Terfs) indel Likely pathogenic rs1057517525 GRCh38 Chromosome 1, 53211019: 53211019
46 CPT2 NM_000098.2(CPT2): c.1345delCinsTA (p.Gln449Terfs) indel Likely pathogenic rs1057517525 GRCh37 Chromosome 1, 53676691: 53676691
47 CPT2 NM_000098.2(CPT2): c.1359_1362delAGAA (p.Lys453Asnfs) deletion Likely pathogenic rs1057517507 GRCh38 Chromosome 1, 53211033: 53211036
48 CPT2 NM_000098.2(CPT2): c.1359_1362delAGAA (p.Lys453Asnfs) deletion Likely pathogenic rs1057517507 GRCh37 Chromosome 1, 53676705: 53676708
49 CPT2 NM_000098.2(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 GRCh37 Chromosome 1, 53676760: 53676760
50 CPT2 NM_000098.2(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 GRCh38 Chromosome 1, 53211088: 53211088

Expression for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

Search GEO for disease gene expression data for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced.

Pathways for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

GO Terms for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

Sources for Carnitine Palmitoyltransferase Ii Deficiency, Myopathic,...

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