MCID: CPT005
MIFTS: 16

Cpt Ii Deficiency, Lethal Neonatal malady

Genetic diseases (common) category

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 49 11
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 65
Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal 67
 
Lethal Neonatal Cpt-Ii Deficiency 67
Cpt2d-Ln 67


Classifications:



External Ids:

OMIM49 608836
MedGen34 C1833518

Summaries for Cpt Ii Deficiency, Lethal Neonatal

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UniProtKB/Swiss-Prot:67 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, is also known as carnitine palmitoyltransferase ii deficiency, lethal neonatal, 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:49 608836

Related Diseases for Cpt Ii Deficiency, Lethal Neonatal

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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 64)
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 autosomal recessive inheritance HP:0000007
11 ureteral duplication HP:0000073
12 renal insufficiency HP:0000083
13 enlarged kidneys HP:0000105
14 polycystic kidney dysplasia HP:0000113
15 hydronephrosis HP:0000126
16 narrow palate HP:0000189
17 high palate HP:0000218
18 microcephaly HP:0000252
19 sloping forehead HP:0000340
20 high forehead HP:0000348
21 posteriorly rotated ears HP:0000358
22 low-set ears HP:0000369
23 overfolded helix HP:0000396
24 bulbous nose HP:0000414
25 cataract HP:0000518
26 tapered finger HP:0001182
27 seizures HP:0001250
28 lethargy HP:0001254
29 agenesis of corpus callosum HP:0001274
30 neonatal hypotonia HP:0001319
31 macrovesicular hepatic steatosis HP:0001403
32 oligohydramnios HP:0001562
33 cardiomegaly HP:0001640
34 dilated cardiomyopathy HP:0001644
35 abnormality of the foot HP:0001760
36 hypoplastic toenails HP:0001800
37 nonketotic hypoglycemia HP:0001958
38 hyperammonemia HP:0001987
39 respiratory distress HP:0002098
40 apnea HP:0002104
41 ventriculomegaly HP:0002119
42 polymicrogyria HP:0002126
43 hepatomegaly HP:0002240
44 respiratory failure HP:0002878
45 elevated hepatic transaminases HP:0002910
46 elbow flexion contracture HP:0002987
47 increased total bilirubin HP:0003573
48 knee flexion contracture HP:0006380
49 hepatic calcification HP:0006559
50 lipid accumulation in hepatocytes HP:0006561
51 wide intermamillary distance HP:0006610
52 basal ganglia cysts HP:0006799
53 antenatal intracerebral hemorrhage HP:0007023
54 intracerebral periventricular calcifications HP:0007229
55 long-chain dicarboxylic aciduria HP:0008293
56 decreased plasma free carnitine HP:0008315
57 feeding difficulties in infancy HP:0008872
58 increased muscle lipid content HP:0009058
59 long toe HP:0010511
60 prominent forehead HP:0011220
61 tapered toe HP:0011309
62 arrhythmia HP:0011675
63 decreased plasma total carnitine HP:0011936
64 elevated serum long-chain fatty acids HP:0045016

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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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:

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet