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 52 12
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 52 68
Carnitine Palmitoyltransferase 2 Deficiency Lethal Neonatal 70 27
Carnitine Palmitoyl Transferase Deficiency Type 2, Lethal Systemic Form 54
Carnitine Palmitoyl Transferase Ii Deficiency, Lethal Systemic Form 54
Carnitine Palmitoyl Transferase Deficiency Type 2, Neonatal Form 54
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form 54
 
Lethal Neonatal Cpt-Ii Deficiency 70
Cptii, Lethal Systemic Form 54
Cpt2, Lethal Systemic Form 54
Cptii, Neonatal Form 54
Cpt2, Neonatal Form 54
Cpt2d-Ln 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
cpt ii deficiency, lethal neonatal:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 608836
Orphanet54 ORPHA228308
ICD10 via Orphanet31 E71.3
MedGen37 C1833518

Summaries for Cpt Ii Deficiency, Lethal Neonatal

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 64 54 (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0000003
2 seizures64 54 hallmark (90%) Very frequent (99-80%) HP:0001250
3 cardiomegaly64 hallmark (90%) HP:0001640
4 hypoglycemia64 hallmark (90%) HP:0001943
5 hepatomegaly64 54 hallmark (90%) Very frequent (99-80%) HP:0002240
6 elevated hepatic transaminases64 54 hallmark (90%) Very frequent (99-80%) HP:0002910
7 arrhythmia64 54 hallmark (90%) Very frequent (99-80%) HP:0011675
8 renal insufficiency64 54 typical (50%) Frequent (79-30%) HP:0000083
9 cerebral calcification64 typical (50%) HP:0002514
10 ureteral duplication64 HP:0000073
11 enlarged kidneys64 HP:0000105
12 polycystic kidney dysplasia64 HP:0000113
13 hydronephrosis64 HP:0000126
14 narrow palate64 HP:0000189
15 high palate64 HP:0000218
16 microcephaly64 HP:0000252
17 sloping forehead64 HP:0000340
18 high forehead64 HP:0000348
19 posteriorly rotated ears64 HP:0000358
20 low-set ears64 HP:0000369
21 overfolded helix64 HP:0000396
22 bulbous nose64 HP:0000414
23 cataract64 HP:0000518
24 tapered finger64 HP:0001182
25 lethargy64 HP:0001254
26 agenesis of corpus callosum64 HP:0001274
27 neonatal hypotonia64 HP:0001319
28 macrovesicular hepatic steatosis64 HP:0001403
29 oligohydramnios64 HP:0001562
30 dilated cardiomyopathy64 HP:0001644
31 abnormality of the foot64 HP:0001760
32 hypoplastic toenails64 HP:0001800
33 nonketotic hypoglycemia64 HP:0001958
34 hyperammonemia64 HP:0001987
35 respiratory distress64 HP:0002098
36 apnea64 HP:0002104
37 ventriculomegaly64 HP:0002119
38 polymicrogyria64 HP:0002126
39 respiratory failure64 HP:0002878
40 elbow flexion contracture64 HP:0002987
41 increased total bilirubin64 HP:0003573
42 knee flexion contracture64 HP:0006380
43 hepatic calcification64 54 Frequent (79-30%) HP:0006559
44 lipid accumulation in hepatocytes64 HP:0006561
45 wide intermamillary distance64 HP:0006610
46 basal ganglia cysts64 HP:0006799
47 antenatal intracerebral hemorrhage64 HP:0007023
48 intracerebral periventricular calcifications64 HP:0007229
49 long-chain dicarboxylic aciduria64 HP:0008293
50 decreased plasma free carnitine64 HP:0008315
51 feeding difficulties in infancy64 HP:0008872
52 increased muscle lipid content64 HP:0009058
53 long toe64 HP:0010511
54 prominent forehead64 HP:0011220
55 tapered toe64 HP:0011309
56 decreased plasma total carnitine64 HP:0011936
57 elevated serum long-chain fatty acids64 HP:0045016
58 muscular hypotonia54 Very frequent (99-80%)
59 coma54 Very frequent (99-80%)
60 hepatic failure54 Very frequent (99-80%)
61 cardiomyopathy54 Very frequent (99-80%)
62 hypoketotic hypoglycemia54 Very frequent (99-80%)
63 respiratory insufficiency54 Very frequent (99-80%)
64 fatigue54 Very frequent (99-80%)
65 abnormality of nervous system morphology54 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 Neonatal27

Anatomical Context for Cpt Ii Deficiency, Lethal Neonatal

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

36
Kidney

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet