MCID: CPT005
MIFTS: 25

Cpt Ii Deficiency, Lethal Neonatal malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Cpt Ii Deficiency, Lethal Neonatal

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Aliases & Descriptions for Cpt Ii Deficiency, Lethal Neonatal:

Name: Cpt Ii Deficiency, Lethal Neonatal 50 12
Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal 68 25
Carnitine Palmitoyl Transferase Deficiency Type 2, Lethal Systemic Form 52
Carnitine Palmitoyl Transferase Ii Deficiency, Lethal Systemic Form 52
Carnitine Palmitoyl Transferase Deficiency Type 2, Neonatal Form 52
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 50
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form 52
 
Lethal Neonatal Cpt-Ii Deficiency 68
Cptii, Lethal Systemic Form 52
Cpt2, Lethal Systemic Form 52
Cptii, Neonatal Form 52
Cpt2, Neonatal Form 52
Cpt2d-Ln 68

Characteristics:

Orphanet epidemiological data:

52
carnitine palmitoyl transferase deficiency type 2, lethal systemic form:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood

HPO:

62
cpt ii deficiency, lethal neonatal:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 608836
Orphanet52 ORPHA228308
ICD10 via Orphanet29 E71.3
MedGen35 C1833518

Summaries for Cpt Ii Deficiency, Lethal Neonatal

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UniProtKB/Swiss-Prot:68 Carnitine palmitoyltransferase 2 deficiency lethal neonatal: Lethal neonatal form of CPT2D. This rarely presentation is antenatal with cerebral periventricular cysts and cystic dysplastic kidneys. The clinical variability of the disease is likely attributed to the variable residual enzymatic activity.

MalaCards based summary: Cpt Ii Deficiency, Lethal Neonatal, also known as carnitine palmitoyltransferase 2 deficiency lethal neonatal, is related to carnitine palmitoyltransferase ii deficiency, and has symptoms including multicystic kidney dysplasia, seizures and cardiomegaly. An important gene associated with Cpt Ii Deficiency, Lethal Neonatal is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include kidney.

Description from OMIM:50 608836

Related Diseases for Cpt Ii Deficiency, Lethal Neonatal

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Diseases related to Cpt Ii Deficiency, Lethal Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1carnitine palmitoyltransferase ii deficiency11.9

Symptoms for Cpt Ii Deficiency, Lethal Neonatal

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Symptoms by clinical synopsis from OMIM:

608836

Clinical features from OMIM:

608836

Symptoms:

 52 (show all 15)
  • multicystic kidney dysplasia
  • renal insufficiency
  • seizures
  • muscular hypotonia
  • coma
  • hepatic failure
  • cardiomyopathy
  • hypoketotic hypoglycemia
  • respiratory insufficiency
  • hepatomegaly
  • elevated hepatic transaminases
  • hepatic calcification
  • arrhythmia
  • fatigue
  • abnormality of nervous system morphology

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

(show all 63)
id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia hallmark (90%) HP:0000003
2 seizures hallmark (90%) HP:0001250
3 cardiomegaly hallmark (90%) HP:0001640
4 hypoglycemia hallmark (90%) HP:0001943
5 hepatomegaly hallmark (90%) HP:0002240
6 elevated hepatic transaminases hallmark (90%) HP:0002910
7 arrhythmia hallmark (90%) HP:0011675
8 renal insufficiency typical (50%) HP:0000083
9 cerebral calcification typical (50%) HP:0002514
10 ureteral duplication HP:0000073
11 renal insufficiency HP:0000083
12 enlarged kidneys HP:0000105
13 polycystic kidney dysplasia HP:0000113
14 hydronephrosis HP:0000126
15 narrow palate HP:0000189
16 high palate HP:0000218
17 microcephaly HP:0000252
18 sloping forehead HP:0000340
19 high forehead HP:0000348
20 posteriorly rotated ears HP:0000358
21 low-set ears HP:0000369
22 overfolded helix HP:0000396
23 bulbous nose HP:0000414
24 cataract HP:0000518
25 tapered finger HP:0001182
26 seizures HP:0001250
27 lethargy HP:0001254
28 agenesis of corpus callosum HP:0001274
29 neonatal hypotonia HP:0001319
30 macrovesicular hepatic steatosis HP:0001403
31 oligohydramnios HP:0001562
32 cardiomegaly HP:0001640
33 dilated cardiomyopathy HP:0001644
34 abnormality of the foot HP:0001760
35 hypoplastic toenails HP:0001800
36 nonketotic hypoglycemia HP:0001958
37 hyperammonemia HP:0001987
38 respiratory distress HP:0002098
39 apnea HP:0002104
40 ventriculomegaly HP:0002119
41 polymicrogyria HP:0002126
42 hepatomegaly HP:0002240
43 respiratory failure HP:0002878
44 elevated hepatic transaminases HP:0002910
45 elbow flexion contracture HP:0002987
46 increased total bilirubin HP:0003573
47 knee flexion contracture HP:0006380
48 hepatic calcification HP:0006559
49 lipid accumulation in hepatocytes HP:0006561
50 wide intermamillary distance HP:0006610
51 basal ganglia cysts HP:0006799
52 antenatal intracerebral hemorrhage HP:0007023
53 intracerebral periventricular calcifications HP:0007229
54 long-chain dicarboxylic aciduria HP:0008293
55 decreased plasma free carnitine HP:0008315
56 feeding difficulties in infancy HP:0008872
57 increased muscle lipid content HP:0009058
58 long toe HP:0010511
59 prominent forehead HP:0011220
60 tapered toe HP:0011309
61 arrhythmia HP:0011675
62 decreased plasma total carnitine HP:0011936
63 elevated serum long-chain fatty acids HP:0045016

UMLS symptoms related to Cpt Ii Deficiency, Lethal Neonatal:


hepatomegaly, lethargy, seizures, respiratory distress

Drugs & Therapeutics for Cpt Ii Deficiency, Lethal Neonatal

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cpt Ii Deficiency, Lethal Neonatal

Genetic Tests for Cpt Ii Deficiency, Lethal Neonatal

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Genetic tests related to Cpt Ii Deficiency, Lethal Neonatal:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal25

Anatomical Context for Cpt Ii Deficiency, Lethal Neonatal

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

34
Kidney

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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.338C> T (p.Ser113Leu)single nucleotide variantPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
2CPT2CPT2, 1-BP INS, 534T/25-BP DEL, NT534indelPathogenic
3CPT2CPT2, IVS2AS, G-A, -1single nucleotide variantPathogenic
4CPT2CPT2, 11-BP DUPduplicationPathogenic
5CPT2NM_000098.2(CPT2): c.680C> T (p.Pro227Leu)single nucleotide variantPathogenicrs74315298GRCh37Chr 1, 53676026: 53676026
6CPT2CPT2, 3-BP DEL, 109AGC AND 5-BP INS, 109GCAGCindelPathogenic

Expression for genes affiliated with Cpt Ii Deficiency, Lethal Neonatal

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

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Sources for Cpt Ii Deficiency, Lethal Neonatal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet