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Disease Browser
Parent Node:
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Infant, Newborn, Diseases (D007232)
Parent Node:
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Mitochondrial Diseases (D028361)
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Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)

       Child Nodes:



 Sister Nodes: 
..expand3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)  LSDB  L: 00105;
..expandAcyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)  LSDB  L: 00419;
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandAtaxia Neuropathy Spectrum (C579922)
..expandBjornstad syndrome (C537633)  LSDB  L: 00084;
..expandCarbamoyl-Phosphate Synthase I Deficiency Disease (D020165)  LSDB  L: 00085;
..expandCarnitine Palmitoyltransferase II Deficiency, Late-Onset (C563461)  LSDB  L: 00486;
..expandCarnitine Palmitoyltransferase II Deficiency, Lethal Neonatal (C563463)  LSDB  L: 00487;
..expandChildhood Myocerebrohepatopathy Spectrum (C579990)
..expandCoenzyme Q10 Deficiency (C564403)  LSDB  L: 00090;
..expandCombined Oxidative Phosphorylation Deficiency 4 (C565690)  LSDB  L: 00098;
..expandCombined Oxidative Phosphorylation Deficiency 5 (C567126)  LSDB  L: 00099;
..expandCowden-Like Syndrome (C567337)
..expandCytochrome-c Oxidase Deficiency (D030401) Child2  LSDB C:2 L: 00012;
..expandDeoxyguanosine Kinase Deficiency (C580039)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandFriedreich Ataxia (D005621) Child6  LSDB C:1
..expandHypermetabolism due to Defect in Mitochondria (C565498)  LSDB  L: 00406;
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandHypotonia-Cystinuria Syndrome (C564710)  LSDB  L: 00416;
..expandKearns-Sayre Syndrome (D007625) Child1  LSDB  L: 00143;
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009)  LSDB  L: 00418;
..expandMedium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..expandMitochondrial complex I deficiency (C537475)  LSDB  L: 00011;
..expandMitochondrial Complex II Deficiency (C565375)  LSDB  L: 00016;
..expandMitochondrial Complex III Deficiency (C565128)  LSDB  L: 00017;
..expandMITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE (OMIM:604273)  LSDB  L: 00023;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) (OMIM:251880)  LSDB  L: 00031;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE) (OMIM:203700)  LSDB  L: 00032;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)  LSDB  L: 00035;
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) (OMIM:245400)  LSDB  L: 00038;
..expandMitochondrial DNA Depletion Syndrome, Myopathic Form (C563698)
..expandMitochondrial Myopathies (D017240) Child33  LSDB C:22 L: 00400;
..expandMitochondrial Phosphate Carrier Deficiency (C563665)  LSDB  L: 00040;
..expandMultiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) Child1  LSDB  L: 00439;
..expandMultiple Mitochondrial Dysfunctions Syndrome (C565304)  LSDB  L: 00043;
..expandMULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (OMIM:605711)  LSDB  L: 00043;
..expandMyopathy with Giant Abnormal Mitochondria (C564971)  LSDB  L: 00409;
..expandMyopathy, Cataract, Hypogonadism Syndrome (C563578)
..expandNavajo neurohepatopathy (C538344) Child1  LSDB C:1
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Autosomal Dominant (D029241)  LSDB  L: 00073;
..expandOptic Atrophy, Hereditary, Leber (D029242) Child1  LSDB  L: 00072; 00492;
..expandParkinson Disease, Mitochondrial (C564015)
..expandPhosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (C564890)  LSDB  L: 00046;
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 (C567768)  LSDB  L: 00049;
..expandProximal Myopathy with Focal Depletion of Mitochondria (C563453)  LSDB  L: 00412;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandSarcosinemia (C537236)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSuccinate-Coa Ligase Deficiency (C580473)
..expandVDAC Deficiency (C565767)
..expandVLCAD deficiency (C536353)  LSDB  L: 00436;
..expandWolfram Syndrome 2 (C565733)  LSDB  L: 00490;
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1784
Name:Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
Definition:
Alternative IDs:OMIM:608836
ParentIDs:MESH:D007232|MESH:D028361
TreeNumbers:C16.614/C563463 |C18.452.660/C563463
Synonyms:Carnitine Palmitoyltransferase II Deficiency, Antenatal |Carnitine Palmitoyltransferase II Deficiency, Neonatal |CPT2 Deficiency, Lethal Neonatal |CPT II Deficiency, Lethal Neonatal
Slim Mappings:Infant-newborn disease|Metabolic disease
Reference: MedGen: C563463
MeSH: C563463
OMIM: 608836;
MSeqDR LSDB: 00487;  
Genes: CPT2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001760Abnormality of the foot
3 HP:0001274Agenesis of corpus callosum
4 HP:0007023Antenatal intracerebral hemorrhage
5 HP:0002104Apnea
6 HP:0011675Arrhythmia
NAMDC:  Cardiac conduction block
hallmark
7 HP:0011675Arrhythmia
NAMDC:  Cardiac conduction block
8 HP:0006799Basal ganglia cysts
9 HP:0000414Bulbous nose
10 HP:0001640Cardiomegaly
11 HP:0001640Cardiomegalyhallmark
12 HP:0000518Cataract
NAMDC:  Cataracts
13 HP:0002514Cerebral calcificationtypical
14 HP:0008315Decreased plasma free carnitine
15 HP:0011936Decreased plasma total carnitine
16 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
17 HP:0002987Elbow flexion contracture
18 HP:0002910Elevated hepatic transaminaseshallmark
19 HP:0002910Elevated hepatic transaminases
20 HP:0045016Elevated serum long-chain fatty acids
21 HP:0000105Enlarged kidneys
22 HP:0008872Feeding difficulties in infancy
23 HP:0006559Hepatic calcification
24 HP:0002240Hepatomegaly
25 HP:0002240Hepatomegalyhallmark
26 HP:0000348High forehead
27 HP:0000218High palate
28 HP:0000126Hydronephrosis
29 HP:0001987Hyperammonemia
30 HP:0001943Hypoglycemiahallmark
31 HP:0001800Hypoplastic toenails
32 HP:0009058Increased muscle lipid content
33 HP:0003573Increased total bilirubin
34 HP:0007229Intracerebral periventricular calcifications
35 HP:0006380Knee flexion contracture
36 HP:0001254Lethargy
37 HP:0006561Lipid accumulation in hepatocytes
38 HP:0010511Long toe
39 HP:0008293Long-chain dicarboxylic aciduria
40 HP:0000369Low-set ears
41 HP:0001403Macrovesicular hepatic steatosis
42 HP:0000252Microcephaly
43 HP:0000003Multicystic kidney dysplasiahallmark
44 HP:0000189Narrow palate
45 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
46 HP:0001958Nonketotic hypoglycemia
47 HP:0001562OligohydramniosOccasional
48 HP:0000396Overfolded helix
49 HP:0000113Polycystic kidney dysplasia
50 HP:0002126Polymicrogyria
51 HP:0000358Posteriorly rotated ears
52 HP:0011220Prominent forehead
53 HP:0000083Renal insufficiencytypical
54 HP:0000083Renal insufficiency
55 HP:0002098Respiratory distress
56 HP:0002878Respiratory failure
57 HP:0001250Seizures
NAMDC:  Seizures
58 HP:0001250Seizures
NAMDC:  Seizures
hallmark
59 HP:0000340Sloping forehead
60 HP:0001182Tapered finger
61 HP:0011309Tapered toe
62 HP:0000073Ureteral duplication
63 HP:0002119Ventriculomegaly
64 HP:0006610Wide intermamillary distance
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_000098.3(CPT2):c.234-1G>A1376CPT2Pathogenic-1RCV000009524; NMedGen:C1833518,OMIM:608836, Orphanet:ORPHA22830815366799453667994OMIM Allelic Variant:600650.0011
NM_000098.2(CPT2):c.338C>T (p.Ser113Leu)1376CPT2Pathogenic74315294RCV000202499; RCV000515252; RCV000576571; RCV000194764; RCV000515252; RCV000009510; RCV000515252; RCV000515252; RCV000624845; RCV000662284; RCV000185836; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; Med15366809953668099HGMD:CM930171,OMIM Allelic Variant:600650.0002,UniProtKB (protein):P23786#VAR_001392C0342790 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.680C>T (p.Pro227Leu)1376CPT2Pathogenic/Likely pathogenic74315298RCV000202466; RCV000576348; RCV000009526; RCV000185840; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:CN51720215367602653676026OMIM Allelic Variant:600650.0013,UniProtKB (protein):P23786#VAR_007967C0342790 Carnitine palmitoyltransferase II deficiency;
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.1055T>G (p.Phe352Cys)1376CPT2Benign/Likely benign2229291RCV000202443; RCV000578014; RCV000578014; RCV000023026; RCV000444353; RCV000078115; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:C3280160,OMIM:614212, Orphanet:ORPHA263524; MedGen:CN517202; MedGen:CN16937415367640153676401HGMD:CM065101,OMIM Allelic Variant:600650.0018,UniProtKB (protein):P23786#VAR_001394C0342790 Carnitine palmitoyltransferase II deficiency;
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.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.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.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.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.1939A>G (p.Met647Val)1376CPT2Benign/Likely benign1799822RCV000202533; RCV000578093; RCV000578093; RCV000078120; NMedGen:C0342790, Orphanet:ORPHA157,SNOMED CT:238002005; MedGen:C1833511,OMIM:600649, Orphanet:ORPHA228305; MedGen:C1833518,OMIM:608836, Orphanet:ORPHA228308; MedGen:CN16937415367922953679229UniProtKB (protein):P23786#VAR_001400C0342790 Carnitine palmitoyltransferase II deficiency;
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000157184 MSeqDR Search EnsemblCPT21123carnitine palmitoyltransferase 2 [Source:HGNC Symbol;Acc:2330]00487

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