MCID: CRN294
MIFTS: 24

Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced

Categories: Genetic diseases, Neuronal diseases, Metabolic 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 75
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic 57 75
Cpt Ii Deficiency, Myopathic 57 75
Cpt2 Deficiency, Late-Onset 57 75
Carnitine Palmitoyltransferase 2 Deficiency, Myopathic, Stress-Induced 75
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 Ii Deficiency, Late-Onset 40
Carnitine Palmitoyltransferase 2 Deficiency, Late-Onset 75
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 75

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 recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 255110
Orphanet 59 ORPHA228302
ICD10 via Orphanet 34 E71.3
UMLS via Orphanet 74 C1833508
MedGen 42 C1833508
MeSH 44 D008661

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, also known as carnitine palmitoyltransferase ii deficiency, adult-onset, is related to carnitine palmitoyltransferase ii deficiency, infantile, and has symptoms including muscle cramp, muscular stiffness and myalgia. 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 renal insufficiency and muscle weakness

UniProtKB/Swiss-Prot : 75 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 11.6

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

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle cramps
muscle stiffness
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

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

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

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


muscle cramp, muscular stiffness, myalgia

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

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

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

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

75 (show all 18)
# Symbol AA change Variation ID SNP ID
1 CPT2 p.Pro50His VAR_001391 rs28936674
2 CPT2 p.Ser113Leu VAR_001392 rs74315294
3 CPT2 p.Glu174Lys VAR_001393 rs28936674
4 CPT2 p.Phe383Tyr VAR_001396 rs28936673
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 56)
# 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 Pathogenic rs28936376 GRCh37 Chromosome 1, 53678947: 53678947
8 CPT2 NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn) single nucleotide variant Pathogenic rs28936376 GRCh38 Chromosome 1, 53213275: 53213275
9 CPT2 NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser) single nucleotide variant Pathogenic rs28936673 GRCh37 Chromosome 1, 53679173: 53679173
10 CPT2 NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser) single nucleotide variant Pathogenic rs28936673 GRCh38 Chromosome 1, 53213501: 53213501
11 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Likely pathogenic rs74315295 GRCh37 Chromosome 1, 53676494: 53676494
12 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Likely pathogenic rs74315295 GRCh38 Chromosome 1, 53210822: 53210822
13 CPT2 NM_000098.2(CPT2): c.1507C> T (p.Arg503Cys) single nucleotide variant Pathogenic rs74315296 GRCh37 Chromosome 1, 53676853: 53676853
14 CPT2 NM_000098.2(CPT2): c.1507C> T (p.Arg503Cys) single nucleotide variant Pathogenic rs74315296 GRCh38 Chromosome 1, 53211181: 53211181
15 CPT2 NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter) single nucleotide variant Pathogenic rs74315299 GRCh37 Chromosome 1, 53676706: 53676706
16 CPT2 NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter) single nucleotide variant Pathogenic rs74315299 GRCh38 Chromosome 1, 53211034: 53211034
17 CPT2 NM_000098.2(CPT2): c.638A> G (p.Asp213Gly) single nucleotide variant Pathogenic rs74315300 GRCh37 Chromosome 1, 53675984: 53675984
18 CPT2 NM_000098.2(CPT2): c.638A> G (p.Asp213Gly) single nucleotide variant Pathogenic rs74315300 GRCh38 Chromosome 1, 53210312: 53210312
19 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 GRCh37 Chromosome 1, 53675705: 53675705
20 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 GRCh38 Chromosome 1, 53210033: 53210033
21 CPT2 NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs) deletion Pathogenic rs397509431 GRCh37 Chromosome 1, 53676585: 53676586
22 CPT2 NM_000098.2(CPT2): c.1239_1240delGA (p.Lys414Thrfs) deletion Pathogenic rs397509431 GRCh38 Chromosome 1, 53210913: 53210914
23 CPT2 NM_000098.2(CPT2): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503887 GRCh37 Chromosome 1, 53676232: 53676232
24 CPT2 NM_000098.2(CPT2): c.886C> T (p.Arg296Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727503887 GRCh38 Chromosome 1, 53210560: 53210560
25 CPT2 NM_000098.2(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 GRCh37 Chromosome 1, 53675716: 53675716
26 CPT2 NM_000098.2(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 GRCh38 Chromosome 1, 53210044: 53210044
27 CPT2 NM_000098.2(CPT2): c.54_72dup19 (p.Leu25Glyfs) duplication Likely pathogenic rs1057517510 GRCh38 Chromosome 1, 53196997: 53197015
28 CPT2 NM_000098.2(CPT2): c.54_72dup19 (p.Leu25Glyfs) duplication Likely pathogenic rs1057517510 GRCh37 Chromosome 1, 53662669: 53662687
29 CPT2 NM_000098.2(CPT2): c.75delC (p.Ser26Alafs) deletion Likely pathogenic rs1057517493 GRCh38 Chromosome 1, 53197018: 53197018
30 CPT2 NM_000098.2(CPT2): c.75delC (p.Ser26Alafs) deletion Likely pathogenic rs1057517493 GRCh37 Chromosome 1, 53662690: 53662690
31 CPT2 NM_000098.2(CPT2): c.95delG (p.Gly32Alafs) deletion Likely pathogenic rs1057517494 GRCh38 Chromosome 1, 53197038: 53197038
32 CPT2 NM_000098.2(CPT2): c.95delG (p.Gly32Alafs) deletion Likely pathogenic rs1057517494 GRCh37 Chromosome 1, 53662710: 53662710
33 CPT2 NM_000098.2(CPT2): c.110_111dupGC (p.Ser38Alafs) duplication Likely pathogenic rs1057517466 GRCh38 Chromosome 1, 53197053: 53197054
34 CPT2 NM_000098.2(CPT2): c.110_111dupGC (p.Ser38Alafs) duplication Likely pathogenic rs1057517466 GRCh37 Chromosome 1, 53662725: 53662726
35 CPT2 NM_000098.2(CPT2): c.606T> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs755830520 GRCh38 Chromosome 1, 53210280: 53210280
36 CPT2 NM_000098.2(CPT2): c.606T> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs755830520 GRCh37 Chromosome 1, 53675952: 53675952
37 CPT2 NM_000098.2(CPT2): c.1046dupA (p.Asn349Lysfs) duplication Likely pathogenic rs1057517515 GRCh38 Chromosome 1, 53210720: 53210720
38 CPT2 NM_000098.2(CPT2): c.1046dupA (p.Asn349Lysfs) duplication Likely pathogenic rs1057517515 GRCh37 Chromosome 1, 53676392: 53676392
39 CPT2 NM_000098.2(CPT2): c.1053G> A (p.Trp351Ter) single nucleotide variant Likely pathogenic rs761438840 GRCh38 Chromosome 1, 53210727: 53210727
40 CPT2 NM_000098.2(CPT2): c.1053G> A (p.Trp351Ter) single nucleotide variant Likely pathogenic rs761438840 GRCh37 Chromosome 1, 53676399: 53676399
41 CPT2 NM_000098.2(CPT2): c.1345C> T (p.Gln449Ter) single nucleotide variant Likely pathogenic rs1057517492 GRCh38 Chromosome 1, 53211019: 53211019
42 CPT2 NM_000098.2(CPT2): c.1345C> T (p.Gln449Ter) single nucleotide variant Likely pathogenic rs1057517492 GRCh37 Chromosome 1, 53676691: 53676691
43 CPT2 NM_000098.2(CPT2): c.1345delCinsTA (p.Gln449Terfs) indel Likely pathogenic rs1057517525 GRCh37 Chromosome 1, 53676691: 53676691
44 CPT2 NM_000098.2(CPT2): c.1345delCinsTA (p.Gln449Terfs) indel Likely pathogenic rs1057517525 GRCh38 Chromosome 1, 53211019: 53211019
45 CPT2 NM_000098.2(CPT2): c.1359_1362delAGAA (p.Lys453Asnfs) deletion Likely pathogenic rs1057517507 GRCh38 Chromosome 1, 53211033: 53211036
46 CPT2 NM_000098.2(CPT2): c.1359_1362delAGAA (p.Lys453Asnfs) deletion Likely pathogenic rs1057517507 GRCh37 Chromosome 1, 53676705: 53676708
47 CPT2 NM_000098.2(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 GRCh37 Chromosome 1, 53676760: 53676760
48 CPT2 NM_000098.2(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 GRCh38 Chromosome 1, 53211088: 53211088
49 CPT2 NM_000098.2(CPT2): c.1545_1548delCTTT (p.Phe516Serfs) deletion Likely pathogenic rs1057517477 GRCh38 Chromosome 1, 53211219: 53211222
50 CPT2 NM_000098.2(CPT2): c.1545_1548delCTTT (p.Phe516Serfs) deletion Likely pathogenic rs1057517477 GRCh37 Chromosome 1, 53676891: 53676894

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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