CPT2D
MCID: CRN294
MIFTS: 29

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 57 29 6
Carnitine Palmitoyltransferase Ii Deficiency, Adult-Onset 57 74
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic 57 74
Cpt Ii Deficiency, Myopathic 57 74
Cpt2 Deficiency, Late-Onset 57 74
Carnitine Palmitoyltransferase 2 Deficiency, Myopathic, Stress-Induced 74
Carnitine Palmitoyl Transferase Deficiency Type 2, Adult-Onset Form 59
Carnitine Palmitoyl Transferase Deficiency Type 2, Myopathic Form 59
Carnitine Palmitoyl Transferase Ii Deficiency, Adult-Onset Form 59
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form 59
Carnitine Palmitoyltransferase 2 Deficiency, Late-Onset 74
Cpt Ii Deficiency, Myopathic, Stress-Induced 57
Cptii, Adult-Onset Form 59
Cpt2, Adult-Onset Form 59
Cptii, Myopathic Form 59
Cpt2, Myopathic Form 59
Cpt2d 74

Characteristics:

Orphanet epidemiological data:

59
carnitine palmitoyl transferase ii deficiency, myopathic form
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
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:

32
carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 255110
MeSH 44 D008661
ICD10 via Orphanet 34 E71.3
UMLS via Orphanet 73 C1833508
Orphanet 59 ORPHA228302
MedGen 42 C1833508

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

OMIM : 57 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, is also known as carnitine palmitoyltransferase ii deficiency, adult-onset, 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 skeletal muscle, and related phenotypes are muscle weakness and myopathy

UniProtKB/Swiss-Prot : 74 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,...

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

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

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
2 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
3 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
4 myalgia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003326
5 elevated serum creatine kinase 32 hallmark (90%) HP:0003236
6 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
7 elevated serum creatine phosphokinase 59 Very frequent (99-80%)
8 muscle stiffness 32 HP:0003552
9 abnormality of the musculature 59 Very frequent (99-80%)
10 myoglobinuria 32 HP:0002913
11 rhabdomyolysis 32 HP:0003201
12 muscle spasm 32 HP:0003394

Symptoms via clinical synopsis from OMIM:

57
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 29 CPT2

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

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

41
Kidney, Skeletal Muscle

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

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

(show all 43)
# Title Authors PMID Year
1
Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. 8 71
15622536 2005
2
Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency. 8 71
8786066 1996
3
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. 8 71
8358442 1993
4
Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts. 8 71
736528 1978
5
Clinically symptomatic heterozygous carnitine palmitoyltransferase II (CPT II) deficiency. 71
23184072 2012
6
Bezafibrate for an inborn mitochondrial beta-oxidation defect. 8
19228633 2009
7
A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. 71
17709715 2007
8
Disorders of carnitine transport and the carnitine cycle. 8
16602102 2006
9
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. 8
15642848 2005
10
Carnitine Palmitoyltransferase II Deficiency 71
20301431 2004
11
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. 8
12673791 2003
12
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. 8
14605500 2003
13
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. 71
12410208 2002
14
Metabolic characterization of a woman homozygous for the Ser113Leu missense mutation in carnitine palmitoyl transferase II. 8
11994355 2002
15
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. 8
11999976 2002
16
Antenatal presentation of carnitine palmitoyltransferase II deficiency. 71
11477613 2001
17
A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. 71
10873395 2000
18
Molecular analysis in Spanish patients with muscle carnitine palmitoyltransferase deficiency. 71
10398215 1999
19
Novel mutations associated with carnitine palmitoyltransferase II deficiency. 71
10090476 1999
20
Two novel gene mutations (Glu174-->Lys, Phe383-->Tyr) causing the "hepatic" form of carnitine palmitoyltransferase II deficiency. 71
8682496 1996
21
Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. 71
8651281 1996
22
Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. 71
7711730 1995
23
Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis. 8
8201482 1994
24
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. 71
1528846 1992
25
Myoglobinuria and carnitine palmityl transferase deficiency in father and son. 8
1940982 1991
26
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. 71
1999498 1991
27
Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmityl transferase deficiency. 8
2748260 1989
28
Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme. 8
2712755 1989
29
Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets. 8
3430194 1987
30
Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II. 8
6538275 1984
31
Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance. 8
7195512 1981
32
Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure. 8
7189025 1980
33
Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes. 8
762593 1979
34
Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency. 8
646243 1978
35
Partial deficiency of muscle carnitine palmitoyltransferase with normal ketone production. 8
272487 1978
36
Recurrent myoglobinuria and muscle carnitine palmityltransferase deficiency. 8
874682 1977
37
Carnitine-palmityl-transferase deficiency. 8
187736 1976
38
A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase. 8
123038 1975
39
Muscle carnitine palmityltransferase deficiency and myoglobinuria. 8
4745596 1973
40
A skeletal-muscle disorder associated with intermittent symptoms and a possible defect of lipid metabolism. 8
5416202 1970
41
Carnitine and the twins. 8
5416207 1970
42
A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency. 38
31199774 2019
43
Muscle MRI in patients with long-chain fatty acid oxidation disorders. 38
24305961 2014

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

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

6 (show all 36)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CPT2 NM_000098.3(CPT2): c.1891C> T (p.Arg631Cys) single nucleotide variant Pathogenic rs74315293 1:53679181-53679181 1:53213509-53213509
2 CPT2 NM_000098.3(CPT2): c.149C> A (p.Pro50His) single nucleotide variant Pathogenic rs28936375 1:53662764-53662764 1:53197092-53197092
3 CPT2 NM_000098.3(CPT2): c.1360G> T (p.Glu454Ter) single nucleotide variant Pathogenic rs74315299 1:53676706-53676706 1:53211034-53211034
4 CPT2 NM_000098.3(CPT2): c.638A> G (p.Asp213Gly) single nucleotide variant Pathogenic rs74315300 1:53675984-53675984 1:53210312-53210312
5 CPT2 NM_000098.3(CPT2): c.1239_1240del (p.Lys414fs) deletion Pathogenic rs397509431 1:53676585-53676586 1:53210913-53210914
6 CPT2 NM_000098.3(CPT2): c.1369A> T (p.Lys457Ter) single nucleotide variant Pathogenic/Likely pathogenic rs756931329 1:53676715-53676715 1:53211043-53211043
7 CPT2 NM_000098.3(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 1:53675716-53675716 1:53210044-53210044
8 CPT2 NM_000098.3(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74315295 1:53676494-53676494 1:53210822-53210822
9 CPT2 NM_000098.3(CPT2): c.1345delinsTA (p.Gln449Ter) indel Pathogenic/Likely pathogenic rs1057517525 1:53676691-53676691 1:53211019-53211019
10 CPT2 NM_000098.3(CPT2): c.1359_1362del (p.Lys453fs) deletion Likely pathogenic rs1057517507 1:53676705-53676708 1:53211033-53211036
11 CPT2 NM_000098.3(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 1:53676760-53676760 1:53211088-53211088
12 CPT2 NM_000098.3(CPT2): c.1545_1548del (p.Phe516fs) deletion Likely pathogenic rs1057517477 1:53676891-53676894 1:53211219-53211222
13 CPT2 NM_000098.3(CPT2): c.1614C> A (p.Tyr538Ter) single nucleotide variant Likely pathogenic rs1057517517 1:53676960-53676960 1:53211288-53211288
14 CPT2 NM_000098.3(CPT2): c.1645+2T> G single nucleotide variant Likely pathogenic rs1057517473 1:53676993-53676993 1:53211321-53211321
15 CPT2 NM_000098.3(CPT2): c.1774_1775del (p.Leu592fs) deletion Likely pathogenic rs767004984 1:53679064-53679065 1:53213392-53213393
16 CPT2 NM_000098.3(CPT2): c.54_72dup (p.Leu25fs) duplication Likely pathogenic rs1057517510 1:53662669-53662687 1:53196997-53197015
17 CPT2 NM_000098.3(CPT2): c.75del (p.Ser26fs) deletion Likely pathogenic rs1057517493 1:53662690-53662690 1:53197018-53197018
18 CPT2 NM_000098.3(CPT2): c.95del (p.Gly32fs) deletion Likely pathogenic rs1057517494 1:53662710-53662710 1:53197038-53197038
19 CPT2 NM_000098.3(CPT2): c.108_109GC[3] (p.Ser38fs) short repeat Likely pathogenic rs754363068 1:53662725-53662726 1:53197053-53197054
20 CPT2 NM_000098.3(CPT2): c.606T> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs755830520 1:53675952-53675952 1:53210280-53210280
21 CPT2 NM_000098.3(CPT2): c.1046dup (p.Asn349fs) duplication Likely pathogenic rs1057517515 1:53676392-53676392 1:53210720-53210720
22 CPT2 NM_000098.3(CPT2): c.1053G> A (p.Trp351Ter) single nucleotide variant Likely pathogenic rs761438840 1:53676399-53676399 1:53210727-53210727
23 CPT2 NM_000098.3(CPT2): c.1345C> T (p.Gln449Ter) single nucleotide variant Likely pathogenic rs1057517492 1:53676691-53676691 1:53211019-53211019
24 CPT2 NM_000098.3(CPT2): c.1507C> T (p.Arg503Cys) single nucleotide variant Likely pathogenic rs74315296 1:53676853-53676853 1:53211181-53211181
25 CPT2 NM_000098.3(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 1:53675705-53675705 1:53210033-53210033
26 CPT2 NM_000098.3(CPT2): c.1323_1326del (p.Thr442fs) deletion Likely pathogenic 1:53676667-53676670 1:53210995-53210998
27 CPT2 NM_000098.3(CPT2): c.1883A> C (p.Tyr628Ser) single nucleotide variant Likely pathogenic rs28936673 1:53679173-53679173 1:53213501-53213501
28 CPT2 NM_000098.3(CPT2): c.1342T> C (p.Phe448Leu) single nucleotide variant Conflicting interpretations of pathogenicity, other rs74315297 1:53676688-53676688 1:53211016-53211016
29 CPT2 NM_000098.3(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs74315294 1:53668099-53668099 1:53202427-53202427
30 CPT2 NM_000098.3(CPT2): c.1657G> A (p.Asp553Asn) single nucleotide variant Uncertain significance rs28936376 1:53678947-53678947 1:53213275-53213275
31 CPT2 NM_000098.3(CPT2): c.1025T> C (p.Met342Thr) single nucleotide variant Uncertain significance rs144658100 1:53676371-53676371 1:53210699-53210699
32 CPT2 NM_000098.3(CPT2): c.1438G> A (p.Gly480Arg) single nucleotide variant Uncertain significance rs201508063 1:53676784-53676784 1:53211112-53211112
33 CPT2 NM_000098.3(CPT2): c.1679G> A (p.Arg560Gln) single nucleotide variant Uncertain significance rs199996641 1:53678969-53678969 1:53213297-53213297
34 CPT2 NM_000098.3(CPT2): c.500G> A (p.Arg167Gln) single nucleotide variant Uncertain significance rs144760921 1:53675846-53675846 1:53210174-53210174
35 CPT2 NM_000098.3(CPT2): c.1448T> C (p.Val483Ala) single nucleotide variant Uncertain significance rs1324631593 1:53676794-53676794 1:53211122-53211122
36 CPT2 NM_000098.3(CPT2): c.1477G> A (p.Ala493Thr) single nucleotide variant Uncertain significance rs61731996 1:53676823-53676823 1:53211151-53211151

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

74 (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

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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69 SNOMED-CT via HPO
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