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Lipid Metabolism, Inborn Errors (D008052)
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Mitochondrial Diseases (D028361)
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Muscular Diseases (D009135)
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Carnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)

       Child Nodes:



 Sister Nodes: 
..expandAlpha-B Crystallinopathy (C563848)
..expandAnal Sphincter Myopathy, Internal (C566287)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandArthrogryposis (D001176) Child55
..expandCamptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia (C537974)
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCompartment Syndromes (D003161) Child3
..expandContracture (D003286) Child41
..expandCraniomandibular Disorders (D017271) Child4
..expandDimauro disease (C536176)
..expandEncephalopathy, Axonal, with Necrotizing Myopathy, Cardiomyopathy, and Cataracts (C565596)
..expandEosinophilia-Myalgia Syndrome (D016603)
..expandEpiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..expandErythrocyte Amp Deaminase Deficiency (C567878)
..expandErythrocyte Lactate Transporter Defect (C565449)
..expandFatigue Syndrome, Chronic (D015673)
..expandFibromyalgia (D005356)
..expandFingerprint Body Myopathy (C564425)
..expandHereditary Myopathy with Early Respiratory Failure (C566343)
..expandHypertrophia Musculorum Vera (C564152)
..expandIsaacs Syndrome (D020386)
..expandKocher-Debre-Semelaigne syndrome (C537211)
..expandMarinesco-Sjogren-like syndrome (MSLS) (C535913)
..expandMedial Tibial Stress Syndrome (D058923)
..expandMesoectodermal dysplasia (C538472)
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMuscle Cramp (D009120) Child3
..expandMuscle Neoplasms (D019042)
..expandMuscle Rigidity (D009127) Child3
..expandMuscle Spasticity (D009128) Child17
..expandMuscle Weakness (D018908) Child5  LSDB C:2
..expandMuscular Disorders, Atrophic (D020966) Child120  LSDB C:1
..expandMuscular Hypoplasia, Congenital Universal, of Krabbe (C563553)
..expandMusculoskeletal Pain (D059352) Child2
..expandMyalgia (D063806)
..expandMyofascial Pain Syndromes (D009209) Child1
..expandMyopathic carnitine deficiency (C536100)
..expandMyopathies, Structural, Congenital (D020914) Child34
..expandMyopathy due to Malate-Aspartate Shuttle Defect (C564973)
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy with Lactic Acidosis, Hereditary (C564972)  LSDB  L: 00476;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandMyopathy, congenital nonprogressive with Moebius and Robin sequences (C536102)
..expandMyopathy, Congenital, With Excess Of Muscle Spindles (C566896)
..expandMyopathy, Early-Onset, with Fatal Cardiomyopathy (C567129)
..expandMyopathy, Granulovacuolar Lobular, with Electrical Myotonia (C564974)
..expandMyopathy, Hyaline Body, Autosomal Recessive (C564970)
..expandMYOPATHY, MYOFIBRILLAR, 1 (OMIM:601419)
..expandMYOPATHY, MYOFIBRILLAR, 4 (OMIM:609452)
..expandMYOPATHY, MYOFIBRILLAR, 6 (OMIM:612954)
..expandMyopathy, Myosin Storage (C564253)
..expandMyopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..expandMyopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..expandMyopathy, X-Linked, with Excessive Autophagy (C564093)
..expandMyositis (D009220) Child16
..expandMyostatin-related muscle hypertrophy (C536106)
..expandMyotonic Disorders (D020967) Child10
..expandNeutral Lipid Storage Disease with Myopathy (C565192)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandParalyses, Familial Periodic (D010245) Child7
..expandPectoralis Muscle, Absence of (C566793)
..expandPolymyalgia Rheumatica (D011111)
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandRhabdomyolysis (D012206) Child6  LSDB C:2
..expandRippling muscle disease, 1 (C535686)
..expandSalih Myopathy (C580430)
..expandSecretory Diarrhea, Myopathy, and Deafness (C564382)
..expandSingleton Merten syndrome (C537343)
..expandSystemic carnitine deficiency (C536778)  LSDB  L: 00473;
..expandTel Hashomer camptodactyly syndrome (C536953)
..expandTendinopathy (D052256) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandTriglyceride storage disease with impaired long-chain fatty acid oxidation (C536560)
..expandUruguay Faciocardiomusculoskeletal Syndrome (C564544)
..expandVacuolar myopathy (C536522)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1783
Name:Carnitine Palmitoyltransferase II Deficiency, Late-Onset
Definition:
Alternative IDs:OMIM:255110
ParentIDs:MESH:D008052|MESH:D009135|MESH:D028361
TreeNumbers:C05.651/C563461 |C10.668.491/C563461 |C16.320.565.398/C563461 |C18.452.584.562/C563461 |C18.452.648.398/C563461 |C18.452.660/C563461
Synonyms:Carnitine Palmitoyltransferase II Deficiency, Adult-Onset |Carnitine Palmitoyltransferase II Deficiency, Myopathic |CPT2 Deficiency, Late-Onset |CPT II Deficiency, Myopathic
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C563461
MeSH: C563461
OMIM: 255110;
MSeqDR LSDB: 00486;  
Genes: CPT2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003394Muscle cramps
3 HP:0003552Muscle stiffness
4 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
hallmark
5 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
6 HP:0003326Myalgiahallmark
7 HP:0003326Myalgia
8 HP:0002913Myoglobinuria
NAMDC:  Myoglobinuria
9 HP:0003198Myopathy
NAMDC:  Myopathy
hallmark
10 HP:0000083Renal insufficiencytypical
11 HP:0000083Renal insufficiency
12 HP:0003201Rhabdomyolysis
NAMDC:  Rhabdomyolysis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000098.2(CPT2):c.54_72dup19 (p.Leu25Glyfs)1376CPT2Likely pathogenic1057517510RCV000411079; RCV000412110; RCV000409552; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215366266953662687-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.75delC (p.Ser26Alafs)1376CPT2Likely pathogenic1057517493RCV000409757; RCV000410873; RCV000412215; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215366269053662690-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.95delG (p.Gly32Alafs)1376CPT2Likely pathogenic1057517494RCV000411223; RCV000409193; RCV000410121; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215366271053662710-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.110_111dupGC (p.Ser38Alafs)1376CPT2Likely pathogenic754363068RCV000410888; RCV000411956; RCV000409793; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215366272553662726-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.149C>A (p.Pro50His)1376CPT2Pathogenic28936375RCV000735345; RCV000202440; RCV000009512; RCV000009511; RCV000735345; RCV000735345; RCV000735345; RCV000735345; RCV000735345; RCV000735345; RCV000735345; RCV000440440; NHuman Phenotype Ontology:HP:0001369,MedGen:C0003864; MedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302; Human Phenotype Ontology:HP:0012532,MedGen:C0150015366276453662764OMIM Allelic Variant:600650.0003,UniProtKB (protein):P23786#VAR_001391C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.2(CPT2):c.359A>G (p.Tyr120Cys)1376CPT2Likely pathogenic121918528RCV000202546; RCV000009530; RCV000408956; RCV000409888; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367570553675705OMIM Allelic Variant:600650.0017C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.2(CPT2):c.370C>T (p.Arg124Ter)1376CPT2Pathogenic/Likely pathogenic201065226RCV000707179; RCV000409811; RCV000410924; RCV000411770; RCV000185829; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302; MedGen:CN51720215367571653675716-C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.2(CPT2):c.606T>A (p.Tyr202Ter)1376CPT2Likely pathogenic755830520RCV000411376; RCV000408985; RCV000410328; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367595253675952-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.638A>G (p.Asp213Gly)1376CPT2Pathogenic74315300RCV000009529; NMedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367598453675984OMIM Allelic Variant:600650.0016,UniProtKB (protein):P23786#VAR_037976C1833508 255110 Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;
NM_000098.2(CPT2):c.1046dupA (p.Asn349Lysfs)1376CPT2Likely pathogenic1057517515RCV000410982; RCV000412442; RCV000409430; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367639253676392-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.1053G>A (p.Trp351Ter)1376CPT2Likely pathogenic761438840RCV000411515; RCV000409099; RCV000409968; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367639953676399-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.1148T>A (p.Phe383Tyr)1376CPT2Likely pathogenic74315295RCV000202462; RCV000009517; RCV000411002; RCV000009518; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367649453676494OMIM Allelic Variant:600650.0007,UniProtKB (protein):P23786#VAR_001396C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.2(CPT2):c.1239_1240delGA (p.Lys414Thrfs)1376CPT2Pathogenic397509431RCV000202516; RCV000202553; RCV000576522; RCV000009520; RCV000185837; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302; MedGen:CN51720215367658553676586HGMD:CD991686,OMIM Allelic Variant:600650.0009C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.2(CPT2):c.1342T>C (p.Phe448Leu)1376CPT2Conflicting interpretations of pathogenicity, other74315297RCV000202478; RCV000202553; RCV000009520; RCV000178040; RCV000430397; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA228302; MedGen:CN517202; MedGen:CN16937415367668853676688OMIM Allelic Variant:600650.0009,UniProtKB (protein):P23786#VAR_007968C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.2(CPT2):c.1345C>T (p.Gln449Ter)1376CPT2Likely pathogenic1057517492RCV000409596; RCV000411103; RCV000411620; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367669153676691-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.1345delCinsTA (p.Gln449Terfs)1376CPT2Likely pathogenic1057517525RCV000410775; RCV000412327; RCV000409771; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367669153676691-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.1359_1362delAGAA (p.Lys453Asnfs)1376CPT2Likely pathogenic1057517507RCV000409126; RCV000410673; RCV000411622; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367670553676708-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.1360G>T (p.Glu454Ter)1376CPT2Pathogenic74315299RCV000009528; NMedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367670653676706OMIM Allelic Variant:600650.0015C1833508 255110 Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;
NM_000098.2(CPT2):c.1414C>T (p.Gln472Ter)1376CPT2Likely pathogenic754386565RCV000411774; RCV000409790; RCV000410758; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367676053676760-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.1507C>T (p.Arg503Cys)1376CPT2Likely pathogenic74315296RCV000202513; RCV000009519; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367685353676853OMIM Allelic Variant:600650.0008,UniProtKB (protein):P23786#VAR_007970C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.2(CPT2):c.1545_1548delCTTT (p.Phe516Serfs)1376CPT2Likely pathogenic1057517477RCV000411439; RCV000409024; RCV000409947; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367689153676894-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.1614C>A (p.Tyr538Ter)1376CPT2Likely pathogenic1057517517RCV000409314; RCV000410441; RCV000411274; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367696053676960-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.1645+2T>G1376CPT2Likely pathogenic1057517473RCV000409646; RCV000410325; RCV000411662; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367699353676993-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.1657G>A (p.Asp553Asn)1376CPT2Uncertain significance28936376RCV000675130; RCV000009513; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367894753678947OMIM Allelic Variant:600650.0004,UniProtKB (protein):P23786#VAR_001397C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.1774_1775delCT (p.Leu592Glufs)1376CPT2Likely pathogenic767004984RCV000410414; RCV000411459; RCV000409282; NMedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367906453679065-C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile;
NM_000098.2(CPT2):c.1883A>C (p.Tyr628Ser)1376CPT2Likely pathogenic28936673RCV000202449; RCV000009514; RCV000415611; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367917353679173OMIM Allelic Variant:600650.0005,UniProtKB (protein):P23786#VAR_001398C0342790 Carnitine palmitoyltransferase II deficiency;
NM_000098.2(CPT2):c.1891C>T (p.Arg631Cys)1376CPT2Pathogenic74315293RCV000202472; RCV000009508; RCV000415574; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833508,OMIM:255110, Orphanet:ORPHA22830215367918153679181OMIM Allelic Variant:600650.0001,UniProtKB (protein):P23786#VAR_001399C0342790 Carnitine palmitoyltransferase II deficiency;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000157184 MSeqDR Search EnsemblCPT211027carnitine palmitoyltransferase 2 [Source:HGNC Symbol;Acc:2330]00486

*Click on gene and variants to check details. Or view all variants in new page