CPT2
MCID: CPT005
MIFTS: 28

Cpt Ii Deficiency, Lethal Neonatal (CPT2) malady

Neuronal diseases, Metabolic diseases, Rare diseases categories
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Summaries for Cpt Ii Deficiency, Lethal Neonatal

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MalaCards based summary: Cpt Ii Deficiency, Lethal Neonatal, also known as carnitine palmitoyltransferase deficiency type 2, is related to carnitine palmitoyltransferase ii deficiency and encephalopathy, acute, infection-induced, 4, and has symptoms including hepatomegaly/liver enlargement (excluding storage disease), abnormal hepatic enzymes/transaminases and cardiomyopathy/hypertrophic/dilated. An important gene associated with Cpt Ii Deficiency, Lethal Neonatal is CPT2 (carnitine palmitoyltransferase 2). Affiliated tissues include kidney and liver.

Descriptions from OMIM:46 608836,255110,600649

Aliases & Classifications for Cpt Ii Deficiency, Lethal Neonatal

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Sources:
46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Cpt Ii Deficiency, Lethal Neonatal, Aliases & Descriptions:

Name: Cpt Ii Deficiency, Lethal Neonatal 46
Carnitine Palmitoyltransferase Deficiency Type 2 48 62
Carnitine Palmitoyl Transferase Deficiency Type 2, Lethal Systemic Form 48
Carnitine Palmitoyl Transferase Ii Deficiency, Lethal Systemic Form 48
Carnitine Palmitoyl Transferase Deficiency Type 2, Neonatal Form 48
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form 48
Carnitine Palmitoyltransferase Ii Deficiency 48
 
Cptii, Lethal Systemic Form 48
Cpt2, Lethal Systemic Form 48
Cptii, Neonatal Form 48
Cpt2, Neonatal Form 48
Cptii 48
Cpt2 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
carnitine palmitoyltransferase deficiency type 2:
Inheritance: Autosomal recessive; Age of onset: Variable
carnitine palmitoyl transferase deficiency type 2, lethal systemic form:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

MESH via Orphanet35 C535589
ICD10 via Orphanet26 E71.3
UMLS via Orphanet63 C0342790

Related Diseases for Cpt Ii Deficiency, Lethal Neonatal

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Graphical network of diseases related to Cpt Ii Deficiency, Lethal Neonatal:



Diseases related to cpt ii deficiency, lethal neonatal

Symptoms for Cpt Ii Deficiency, Lethal Neonatal

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Symptoms by clinical synopsis from OMIM:

608836

Clinical features from OMIM:

608836,255110,600649

Symptoms:

48 (show all 22)
  • hepatomegaly/liver enlargement (excluding storage disease)
  • abnormal hepatic enzymes/transaminases
  • cardiomyopathy/hypertrophic/dilated
  • renal/kidney anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • myopathy
  • muscle weakness/flaccidity
  • myalgia/muscular pain
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • autosomal recessive inheritance
  • cardiac rhythm disorder/arrhythmia
  • multicystic kidney/renal dysplasia
  • renal failure
  • structural anomalies of the nervous system
  • intracranial/cerebral calcifications
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • hypoglycemia
  • encephalitis
  • obnubilation/coma/lethargia/desorientation
  • early death/lethality
  • cardiomegaly
  • asthenia/fatigue/weakness

HPO human phenotypes related to Cpt Ii Deficiency, Lethal Neonatal:

(show all 78)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 muscle weakness hallmark (90%) HP:0001324
3 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
4 hepatomegaly hallmark (90%) HP:0002240
5 elevated hepatic transaminases hallmark (90%) HP:0002910
6 myopathy hallmark (90%) HP:0003198
7 myalgia hallmark (90%) HP:0003326
8 multicystic kidney dysplasia hallmark (90%) HP:0000003
9 seizures hallmark (90%) HP:0001250
10 cardiomegaly hallmark (90%) HP:0001640
11 hypoglycemia hallmark (90%) HP:0001943
12 hepatomegaly hallmark (90%) HP:0002240
13 elevated hepatic transaminases hallmark (90%) HP:0002910
14 arrhythmia hallmark (90%) HP:0011675
15 multicystic kidney dysplasia typical (50%) HP:0000003
16 renal insufficiency typical (50%) HP:0000083
17 cerebral calcification typical (50%) HP:0002514
18 renal insufficiency typical (50%) HP:0000083
19 cerebral calcification typical (50%) HP:0002514
20 sudden cardiac death occasional (7.5%) HP:0001645
21 hypoglycemia occasional (7.5%) HP:0001943
22 encephalitis occasional (7.5%) HP:0002383
23 reduced consciousness/confusion occasional (7.5%) HP:0004372
24 autosomal recessive inheritance HP:0000007
25 ureteral duplication HP:0000073
26 renal insufficiency HP:0000083
27 enlarged kidneys HP:0000105
28 polycystic kidney dysplasia HP:0000113
29 hydronephrosis HP:0000126
30 narrow palate HP:0000189
31 high palate HP:0000218
32 microcephaly HP:0000252
33 sloping forehead HP:0000340
34 high forehead HP:0000348
35 posteriorly rotated ears HP:0000358
36 low-set ears HP:0000369
37 overfolded helix HP:0000396
38 bulbous nose HP:0000414
39 cataract HP:0000518
40 tapered finger HP:0001182
41 seizures HP:0001250
42 lethargy HP:0001254
43 agenesis of corpus callosum HP:0001274
44 neonatal hypotonia HP:0001319
45 macrovesicular hepatic steatosis HP:0001403
46 oligohydramnios HP:0001562
47 cardiomegaly HP:0001640
48 dilated cardiomyopathy HP:0001644
49 abnormality of the foot HP:0001760
50 hypoplastic toenails HP:0001800
51 nonketotic hypoglycemia HP:0001958
52 hyperammonemia HP:0001987
53 respiratory distress HP:0002098
54 apnea HP:0002104
55 ventriculomegaly HP:0002119
56 polymicrogyria HP:0002126
57 hepatomegaly HP:0002240
58 respiratory failure HP:0002878
59 elevated hepatic transaminases HP:0002910
60 elbow flexion contracture HP:0002987
61 elevated long chain fatty acids HP:0003455
62 increased total bilirubin HP:0003573
63 knee flexion contracture HP:0006380
64 hepatic calcification HP:0006559
65 lipid accumulation in hepatocytes HP:0006561
66 wide intermamillary distance HP:0006610
67 basal ganglia cysts HP:0006799
68 antenatal intracerebral hemorrhage HP:0007023
69 intracerebral periventricular calcifications HP:0007229
70 long-chain dicarboxylic aciduria HP:0008293
71 decreased plasma free carnitine HP:0008315
72 feeding difficulties in infancy HP:0008872
73 increased muscle lipid content HP:0009058
74 long toe HP:0010511
75 prominent forehead HP:0011220
76 tapered toe HP:0011309
77 arrhythmia HP:0011675
78 decreased plasma total carnitine HP:0011936

Drugs & Therapeutics for Cpt Ii Deficiency, Lethal Neonatal

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Drug clinical trials:

Search ClinicalTrials for Cpt Ii Deficiency, Lethal Neonatal

Search NIH Clinical Center for Cpt Ii Deficiency, Lethal Neonatal

Genetic Tests for Cpt Ii Deficiency, Lethal Neonatal

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Anatomical Context for Cpt Ii Deficiency, Lethal Neonatal

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MalaCards organs/tissues related to Cpt Ii Deficiency, Lethal Neonatal:

32
Kidney, Liver

Animal Models for Cpt Ii Deficiency, Lethal Neonatal or affiliated genes

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Publications for Cpt Ii Deficiency, Lethal Neonatal

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Variations for Cpt Ii Deficiency, Lethal Neonatal

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Clinvar genetic disease variations for Cpt Ii Deficiency, Lethal Neonatal:

6 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.1342T> C (p.Phe448Leu)single nucleotide variantPathogenicrs74315297GRCh37Chr 1, 53676688: 53676688
2CPT2NM_000098.2(CPT2): c.1891C> T (p.Arg631Cys)single nucleotide variantPathogenicrs74315293GRCh37Chr 1, 53679181: 53679181
3CPT2NM_000098.2(CPT2): c.338C> T (p.Ser113Leu)single nucleotide variantPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
4CPT2NM_000098.2(CPT2): c.149C> A (p.Pro50His)single nucleotide variantPathogenicrs28936375GRCh37Chr 1, 53662764: 53662764
5CPT2NM_000098.2(CPT2): c.1657G> A (p.Asp553Asn)single nucleotide variantPathogenicrs28936376GRCh37Chr 1, 53678947: 53678947
6CPT2NM_000098.2(CPT2): c.1883A> C (p.Tyr628Ser)single nucleotide variantPathogenicrs28936673GRCh37Chr 1, 53679173: 53679173
7CPT2NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr)single nucleotide variantPathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
8CPT2CPT2, 1-BP INS, 534T/25-BP DEL, NT534indelPathogenic
9CPT2CPT2, IVS2AS, G-A, -1single nucleotide variantPathogenic
10CPT2CPT2, 11-BP DUPduplicationPathogenic
11CPT2NM_000098.2(CPT2): c.680C> T (p.Pro227Leu)single nucleotide variantPathogenicrs74315298GRCh37Chr 1, 53676026: 53676026
12CPT2CPT2, 3-BP DEL, 109AGC AND 5-BP INS, 109GCAGCindelPathogenic
13CPT2NM_000098.2(CPT2): c.1360G> T (p.Glu454Ter)single nucleotide variantPathogenicrs74315299GRCh37Chr 1, 53676706: 53676706
14CPT2NM_000098.2(CPT2): c.638A> G (p.Asp213Gly)single nucleotide variantPathogenicrs74315300GRCh37Chr 1, 53675984: 53675984

Expression for genes affiliated with Cpt Ii Deficiency, Lethal Neonatal

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Expression patterns in normal tissues for genes affiliated with Cpt Ii Deficiency, Lethal Neonatal

Search GEO for disease gene expression data for Cpt Ii Deficiency, Lethal Neonatal.

Pathways for genes affiliated with Cpt Ii Deficiency, Lethal Neonatal

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Compounds for genes affiliated with Cpt Ii Deficiency, Lethal Neonatal

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GO Terms for genes affiliated with Cpt Ii Deficiency, Lethal Neonatal

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Products for genes affiliated with Cpt Ii Deficiency, Lethal Neonatal

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cpt Ii Deficiency, Lethal Neonatal

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet