MCID: CPT005
MIFTS: 23

Cpt Ii Deficiency, Lethal Neonatal malady

Genetic diseases (common) category

Summaries for Cpt Ii Deficiency, Lethal Neonatal

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MalaCards based summary: Cpt Ii Deficiency, Lethal Neonatal, also known as carnitine palmitoyltransferase ii deficiency, lethal neonatal, is related to carnitine palmitoyltransferase ii deficiency, and has symptoms including autosomal recessive inheritance, ureteral duplication and renal insufficiency. An important gene associated with Cpt Ii Deficiency, Lethal Neonatal is CPT2 (carnitine palmitoyltransferase 2). Affiliated tissues include kidney.

Description from OMIM:47 608836

Aliases & Classifications for Cpt Ii Deficiency, Lethal Neonatal

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Cpt Ii Deficiency, Lethal Neonatal, Aliases & Descriptions:

Name: Cpt Ii Deficiency, Lethal Neonatal 47 11
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 47
 
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency 24
Carnitine Palmitoyltransferase Deficiency Type 2 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM47 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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1carnitine palmitoyltransferase ii deficiency10.5

Symptoms for Cpt Ii Deficiency, Lethal Neonatal

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Symptoms by clinical synopsis from OMIM:

608836

Clinical features from OMIM:

608836

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

(show all 55)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 ureteral duplication HP:0000073
3 renal insufficiency HP:0000083
4 enlarged kidneys HP:0000105
5 polycystic kidney dysplasia HP:0000113
6 hydronephrosis HP:0000126
7 narrow palate HP:0000189
8 high palate HP:0000218
9 microcephaly HP:0000252
10 sloping forehead HP:0000340
11 high forehead HP:0000348
12 posteriorly rotated ears HP:0000358
13 low-set ears HP:0000369
14 overfolded helix HP:0000396
15 bulbous nose HP:0000414
16 cataract HP:0000518
17 tapered finger HP:0001182
18 seizures HP:0001250
19 lethargy HP:0001254
20 agenesis of corpus callosum HP:0001274
21 neonatal hypotonia HP:0001319
22 macrovesicular hepatic steatosis HP:0001403
23 oligohydramnios HP:0001562
24 cardiomegaly HP:0001640
25 dilated cardiomyopathy HP:0001644
26 abnormality of the foot HP:0001760
27 hypoplastic toenails HP:0001800
28 nonketotic hypoglycemia HP:0001958
29 hyperammonemia HP:0001987
30 respiratory distress HP:0002098
31 apnea HP:0002104
32 ventriculomegaly HP:0002119
33 polymicrogyria HP:0002126
34 hepatomegaly HP:0002240
35 respiratory failure HP:0002878
36 elevated hepatic transaminases HP:0002910
37 elbow flexion contracture HP:0002987
38 elevated long chain fatty acids HP:0003455
39 increased total bilirubin HP:0003573
40 knee flexion contracture HP:0006380
41 hepatic calcification HP:0006559
42 lipid accumulation in hepatocytes HP:0006561
43 wide intermamillary distance HP:0006610
44 basal ganglia cysts HP:0006799
45 antenatal intracerebral hemorrhage HP:0007023
46 intracerebral periventricular calcifications HP:0007229
47 long-chain dicarboxylic aciduria HP:0008293
48 decreased plasma free carnitine HP:0008315
49 feeding difficulties in infancy HP:0008872
50 increased muscle lipid content HP:0009058
51 long toe HP:0010511
52 prominent forehead HP:0011220
53 tapered toe HP:0011309
54 arrhythmia HP:0011675
55 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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Genetic tests related to Cpt Ii Deficiency, Lethal Neonatal:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal24

Anatomical Context for Cpt Ii Deficiency, Lethal Neonatal

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

33
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:

7
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2CPT2, 1-BP INS, 534T/25-BP DEL, NT534indelPathogenic
2CPT2CPT2, IVS2AS, G-A, -1single nucleotide variantPathogenic
3CPT2CPT2, 11-BP DUPduplicationPathogenic
4CPT2NM_000098.2(CPT2): c.680C> T (p.Pro227Leu)single nucleotide variantPathogenicrs74315298GRCh37Chr 1, 53676026: 53676026
5CPT2CPT2, 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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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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cpt Ii Deficiency, Lethal Neonatal

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet