MCID: CPT005
MIFTS: 24

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 51 12
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 51 67
Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal 69 26
Carnitine Palmitoyl Transferase Deficiency Type 2, Lethal Systemic Form 53
Carnitine Palmitoyl Transferase Ii Deficiency, Lethal Systemic Form 53
Carnitine Palmitoyl Transferase Deficiency Type 2, Neonatal Form 53
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form 53
 
Lethal Neonatal Cpt-Ii Deficiency 69
Cptii, Lethal Systemic Form 53
Cpt2, Lethal Systemic Form 53
Cptii, Neonatal Form 53
Cpt2, Neonatal Form 53
Cpt2d-Ln 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
cpt ii deficiency, lethal neonatal:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 608836
Orphanet53 ORPHA228308
ICD10 via Orphanet30 E71.3
MedGen36 C1833518

Summaries for Cpt Ii Deficiency, Lethal Neonatal

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UniProtKB/Swiss-Prot:69 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 ii deficiency, lethal neonatal, is related to cpt deficiency, hepatic, type ii, 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:51 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
1cpt deficiency, hepatic, type ii11.5

Symptoms for Cpt Ii Deficiency, Lethal Neonatal

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Symptoms by clinical synopsis from OMIM:

608836

Clinical features from OMIM:

608836

Human phenotypes related to Cpt Ii Deficiency, Lethal Neonatal:

 63 53 (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0000003
2 seizures63 53 hallmark (90%) Very frequent (99-80%) HP:0001250
3 cardiomegaly63 hallmark (90%) HP:0001640
4 hypoglycemia63 hallmark (90%) HP:0001943
5 hepatomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0002240
6 elevated hepatic transaminases63 53 hallmark (90%) Very frequent (99-80%) HP:0002910
7 arrhythmia63 53 hallmark (90%) Very frequent (99-80%) HP:0011675
8 renal insufficiency63 53 typical (50%) Frequent (79-30%) HP:0000083
9 cerebral calcification63 typical (50%) HP:0002514
10 ureteral duplication63 HP:0000073
11 enlarged kidneys63 HP:0000105
12 polycystic kidney dysplasia63 HP:0000113
13 hydronephrosis63 HP:0000126
14 narrow palate63 HP:0000189
15 high palate63 HP:0000218
16 microcephaly63 HP:0000252
17 sloping forehead63 HP:0000340
18 high forehead63 HP:0000348
19 posteriorly rotated ears63 HP:0000358
20 low-set ears63 HP:0000369
21 overfolded helix63 HP:0000396
22 bulbous nose63 HP:0000414
23 cataract63 HP:0000518
24 tapered finger63 HP:0001182
25 lethargy63 HP:0001254
26 agenesis of corpus callosum63 HP:0001274
27 neonatal hypotonia63 HP:0001319
28 macrovesicular hepatic steatosis63 HP:0001403
29 oligohydramnios63 HP:0001562
30 dilated cardiomyopathy63 HP:0001644
31 abnormality of the foot63 HP:0001760
32 hypoplastic toenails63 HP:0001800
33 nonketotic hypoglycemia63 HP:0001958
34 hyperammonemia63 HP:0001987
35 respiratory distress63 HP:0002098
36 apnea63 HP:0002104
37 ventriculomegaly63 HP:0002119
38 polymicrogyria63 HP:0002126
39 respiratory failure63 HP:0002878
40 elbow flexion contracture63 HP:0002987
41 increased total bilirubin63 HP:0003573
42 knee flexion contracture63 HP:0006380
43 hepatic calcification63 53 Frequent (79-30%) HP:0006559
44 lipid accumulation in hepatocytes63 HP:0006561
45 wide intermamillary distance63 HP:0006610
46 basal ganglia cysts63 HP:0006799
47 antenatal intracerebral hemorrhage63 HP:0007023
48 intracerebral periventricular calcifications63 HP:0007229
49 long-chain dicarboxylic aciduria63 HP:0008293
50 decreased plasma free carnitine63 HP:0008315
51 feeding difficulties in infancy63 HP:0008872
52 increased muscle lipid content63 HP:0009058
53 long toe63 HP:0010511
54 prominent forehead63 HP:0011220
55 tapered toe63 HP:0011309
56 decreased plasma total carnitine63 HP:0011936
57 elevated serum long-chain fatty acids63 HP:0045016
58 muscular hypotonia53 Very frequent (99-80%)
59 coma53 Very frequent (99-80%)
60 hepatic failure53 Very frequent (99-80%)
61 cardiomyopathy53 Very frequent (99-80%)
62 hypoketotic hypoglycemia53 Very frequent (99-80%)
63 respiratory insufficiency53 Very frequent (99-80%)
64 fatigue53 Very frequent (99-80%)
65 abnormality of nervous system morphology53 Frequent (79-30%)

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 Neonatal26

Anatomical Context for Cpt Ii Deficiency, Lethal Neonatal

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

35
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 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2NM_000098.2(CPT2): c.370C> T (p.Arg124Ter)SNVLikely pathogenic, Pathogenicrs201065226GRCh37Chr 1, 53675716: 53675716
2CPT2NM_000098.2: c.110_111dupGCduplicationLikely pathogenicChr na, -1: -1
3CPT2NM_000098.2: c.1774_1775delCTdeletionLikely pathogenicChr na, -1: -1
4CPT2NM_000098.2: c.1645+2T> GSNVLikely pathogenicChr na, -1: -1
5CPT2NM_000098.2: c.1545_1548delCTTTdeletionLikely pathogenicChr na, -1: -1
6CPT2NM_000098.2: c.1345C> TSNVLikely pathogenicChr na, -1: -1
7CPT2NM_000098.2: c.75delCdeletionLikely pathogenicChr na, -1: -1
8CPT2NM_000098.2: c.95delGdeletionLikely pathogenicChr na, -1: -1
9CPT2NM_000098.2: c.606T> ASNVLikely pathogenicChr na, -1: -1
10CPT2NM_000098.2: c.1414C> TSNVLikely pathogenicChr na, -1: -1
11CPT2NM_000098.2: c.1359_1362delAGAAdeletionLikely pathogenicChr na, -1: -1
12CPT2NM_000098.2: c.54_72dup19duplicationLikely pathogenicChr na, -1: -1
13CPT2NM_000098.2: c.1046dupAduplicationLikely pathogenicChr na, -1: -1
14CPT2NM_000098.2: c.1614C> ASNVLikely pathogenicChr na, -1: -1
15CPT2NM_000098.2: c.1345delCinsTAindelLikely pathogenicChr na, -1: -1
16CPT2NM_000098.2: c.1053G> ASNVLikely pathogenicChr na, -1: -1
17CPT2NM_000098.2(CPT2): c.338C> T (p.Ser113Leu)SNVPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
18CPT2NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr)SNVLikely pathogenic, Pathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
19CPT2CPT2, 1-BP INS, 534T/25-BP DEL, NT534indelPathogenicChr na, -1: -1
20CPT2CPT2, IVS2AS, G-A, -1SNVPathogenicChr na, -1: -1
21CPT2CPT2, 11-BP DUPduplicationPathogenicChr na, -1: -1
22CPT2NM_000098.2(CPT2): c.680C> T (p.Pro227Leu)SNVPathogenicrs74315298GRCh37Chr 1, 53676026: 53676026
23CPT2CPT2, 3-BP DEL, 109AGC AND 5-BP INS, 109GCAGCindelPathogenicChr na, -1: -1
24CPT2NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys)SNVLikely pathogenic, Pathogenicrs121918528GRCh37Chr 1, 53675705: 53675705

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet