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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.149C>A (p.Pro50His)1376CPT2Pathogenic28936375RCV000009512; RCV000009511; RCV000202440; NMedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:C1833511,OMIM:600649,ORPHA:22830515366276453662764NM_000098.2:c.149C>ANP_000089.1:p.Pro50HisNC_000001.10:g.53662764C>AOMIM Allelic Variant:600650.0003C0342790 Carnitine palmitoyltransferase II deficiency; C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.338C>T (p.Ser113Leu)1376CPT2Pathogenic74315294RCV000009510; RCV000194764; RCV000185836; RCV000202499; NMedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:C1833518,OMIM:608836,ORPHA:228308; MedGen:CN22180915366809953668099NM_000098.2:c.338C>TNP_000089.1:p.Ser113LeuNC_000001.10:g.53668099C>THGMD:CM930171,OMIM Allelic Variant:600650.0002C0342790 Carnitine palmitoyltransferase II deficiency; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset; C1833518 608836 Carnitine palmitoyltransferase II deficiency, lethal neonatal; CN221809 not provided
NM_000098.2(CPT2):c.638A>G (p.Asp213Gly)1376CPT2Pathogenic74315300RCV000009529; NMedGen:C1833508,OMIM:255110,ORPHA:22830215367598453675984NM_000098.2:c.638A>GNP_000089.1:p.Asp213GlyNC_000001.10:g.53675984A>GOMIM Allelic Variant:600650.0016C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.886C>T (p.Arg296Ter)1376CPT2Likely pathogenic;Pathogenic727503887RCV000169096; RCV000153105; NMedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:C1833511,OMIM:600649,ORPHA:22830515367623253676232NM_000098.2:c.886C>TNP_000089.1:p.Arg296TerNC_000001.10:g.53676232C>THGMD:CM045609C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.1148T>A (p.Phe383Tyr)1376CPT2Pathogenic74315295RCV000009517; RCV000009518; RCV000202462; NMedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:C1833511,OMIM:600649,ORPHA:22830515367649453676494NM_000098.2:c.1148T>ANP_000089.1:p.Phe383TyrNC_000001.10:g.53676494T>AOMIM Allelic Variant:600650.0007C0342790 Carnitine palmitoyltransferase II deficiency; C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.1239_1240delGA (p.Lys414Thrfs)1376CPT2Pathogenic397509431RCV000009520; RCV000202553; RCV000078117; RCV000185837; RCV000202516; NMedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:CN22180915367658553676586NM_000098.2:c.1239_1240delGANP_000089.1:p.Lys414ThrfsNC_000001.10:g.53676585_53676586delGAHGMD:CD991686C0342790 Carnitine palmitoyltransferase II deficiency; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset; CN221809 not provided
NM_000098.2(CPT2):c.1239_1240delGA (p.Lys414Thrfs)1376CPT2Pathogenic397509431RCV000009520; RCV000202553; RCV000078117; RCV000185837; RCV000202516; NMedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:CN22180915367658553676586NM_000098.2:c.1239_1240delGANP_000089.1:p.Lys414ThrfsNC_000001.10:g.53676585_53676586delGAHGMD:CD991686C0342790 Carnitine palmitoyltransferase II deficiency; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset; CN221809 not provided
NM_000098.2(CPT2):c.1342T>C (p.Phe448Leu)1376CPT2Pathogenic74315297RCV000178040; RCV000202478; RCV000009520; RCV000202553; NMedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:CN22180915367668853676688NM_000098.2:c.1342T>CNP_000089.1:p.Phe448LeuNC_000001.10:g.53676688T>COMIM Allelic Variant:600650.0009C0342790 Carnitine palmitoyltransferase II deficiency; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset; CN221809 not provided
NM_000098.2(CPT2):c.1342T>C (p.Phe448Leu)1376CPT2Pathogenic74315297RCV000178040; RCV000202478; RCV000009520; RCV000202553; NMedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:CN22180915367668853676688NM_000098.2:c.1342T>CNP_000089.1:p.Phe448LeuNC_000001.10:g.53676688T>COMIM Allelic Variant:600650.0009C0342790 Carnitine palmitoyltransferase II deficiency; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset; CN221809 not provided
NM_000098.2(CPT2):c.1360G>T (p.Glu454Ter)1376CPT2Pathogenic74315299RCV000009528; NMedGen:C1833508,OMIM:255110,ORPHA:22830215367670653676706NM_000098.2:c.1360G>TNP_000089.1:p.Glu454TerNC_000001.10:g.53676706G>TOMIM Allelic Variant:600650.0015C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.1657G>A (p.Asp553Asn)1376CPT2Pathogenic28936376RCV000009513; NMedGen:C1833508,OMIM:255110,ORPHA:22830215367894753678947NM_000098.2:c.1657G>ANP_000089.1:p.Asp553AsnNC_000001.10:g.53678947G>AOMIM Allelic Variant:600650.0004C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.1883A>C (p.Tyr628Ser)1376CPT2Pathogenic28936673RCV000009514; RCV000009515; RCV000202449; NMedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:C1833511,OMIM:600649,ORPHA:22830515367917353679173NM_000098.2:c.1883A>CNP_000089.1:p.Tyr628SerNC_000001.10:g.53679173A>COMIM Allelic Variant:600650.0005C0342790 Carnitine palmitoyltransferase II deficiency; C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
NM_000098.2(CPT2):c.1891C>T (p.Arg631Cys)1376CPT2Pathogenic74315293RCV000009508; RCV000009509; RCV000202472; NMedGen:C0342790,ORPHA:157,SNOMED CT:238002005; MedGen:C1833508,OMIM:255110,ORPHA:228302; MedGen:C1833511,OMIM:600649,ORPHA:22830515367918153679181NM_000098.2:c.1891C>TNP_000089.1:p.Arg631CysNC_000001.10:g.53679181C>TOMIM Allelic Variant:600650.0001C0342790 Carnitine palmitoyltransferase II deficiency; C1833511 600649 Carnitine palmitoyltransferase II deficiency, infantile; C1833508 255110 Carnitine palmitoyltransferase II deficiency, late-onset
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000157184 MSeqDR Search EnsemblCPT211011carnitine palmitoyltransferase 2 [Source:HGNC Symbol;Acc:2330]00486

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