CPT2DLN
MCID: CPT005
MIFTS: 25

Cpt Ii Deficiency, Lethal Neonatal (CPT2DLN) 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 70 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
Carnitine Palmitoyltransferase Ii Deficiency, Antenatal 70
 
Carnitine Palmitoyltransferase Ii Deficiency, Neonatal 70
Lethal Neonatal Cpt-Ii Deficiency 70
Cpt2 Deficiency, Lethal Neonatal 70
Cptii, Lethal Systemic Form 54
Cpt2, Lethal Systemic Form 54
Cptii, Neonatal Form 54
Cpt2, Neonatal Form 54
Cpt2dln 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
MeSH39 D008661

Summaries for Cpt Ii Deficiency, Lethal Neonatal

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UniProtKB/Swiss-Prot:70 Carnitine palmitoyltransferase 2 deficiency, lethal neonatal: An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fatal outcome, presenting shortly after birth. It is characterized by respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. recessive.

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 lethargy, lethargy and seizures. 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
1carnitine palmitoyltransferase ii deficiency11.8

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:

 54 64 (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia64 54 Very frequent (99-80%) HP:0000003
2 renal insufficiency64 54 Frequent (79-30%) HP:0000083
3 seizures64 54 Very frequent (99-80%) HP:0001250
4 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
5 coma64 54 Very frequent (99-80%) HP:0001259
6 hepatic failure64 54 Very frequent (99-80%) HP:0001399
7 cardiomyopathy64 54 Very frequent (99-80%) HP:0001638
8 hypoketotic hypoglycemia64 54 Very frequent (99-80%) HP:0001985
9 respiratory insufficiency64 54 Very frequent (99-80%) HP:0002093
10 hepatomegaly64 54 Very frequent (99-80%) HP:0002240
11 elevated hepatic transaminases64 54 Very frequent (99-80%) HP:0002910
12 hepatic calcification64 54 Frequent (79-30%) HP:0006559
13 arrhythmia64 54 Very frequent (99-80%) HP:0011675
14 fatigue64 54 Very frequent (99-80%) HP:0012378
15 abnormality of nervous system morphology64 54 Frequent (79-30%) HP:0012639
16 ureteral duplication64 HP:0000073
17 enlarged kidney64 HP:0000105
18 polycystic kidney dysplasia64 HP:0000113
19 hydronephrosis64 HP:0000126
20 narrow palate64 HP:0000189
21 high palate64 HP:0000218
22 microcephaly64 HP:0000252
23 sloping forehead64 HP:0000340
24 high forehead64 HP:0000348
25 posteriorly rotated ears64 HP:0000358
26 low-set ears64 HP:0000369
27 overfolded helix64 HP:0000396
28 bulbous nose64 HP:0000414
29 cataract64 HP:0000518
30 tapered finger64 HP:0001182
31 lethargy64 HP:0001254
32 agenesis of corpus callosum64 HP:0001274
33 neonatal hypotonia64 HP:0001319
34 macrovesicular hepatic steatosis64 HP:0001403
35 oligohydramnios64 HP:0001562
36 cardiomegaly64 HP:0001640
37 dilated cardiomyopathy64 HP:0001644
38 abnormality of the foot64 HP:0001760
39 hypoplastic toenails64 HP:0001800
40 nonketotic hypoglycemia64 HP:0001958
41 hyperammonemia64 HP:0001987
42 respiratory distress64 HP:0002098
43 apnea64 HP:0002104
44 ventriculomegaly64 HP:0002119
45 polymicrogyria64 HP:0002126
46 respiratory failure64 HP:0002878
47 elbow flexion contracture64 HP:0002987
48 increased total bilirubin64 HP:0003573
49 knee flexion contracture64 HP:0006380
50 wide intermamillary distance64 HP:0006610
51 basal ganglia cysts64 HP:0006799
52 antenatal intracerebral hemorrhage64 HP:0007023
53 intracerebral periventricular calcifications64 HP:0007229
54 long-chain dicarboxylic aciduria64 HP:0008293
55 decreased plasma free carnitine64 HP:0008315
56 feeding difficulties in infancy64 HP:0008872
57 increased muscle lipid content64 HP:0009058
58 long toe64 HP:0010511
59 prominent forehead64 HP:0011220
60 tapered toe64 HP:0011309
61 decreased plasma total carnitine64 HP:0011936
62 elevated serum long-chain fatty acids64 HP:0045016

UMLS symptoms related to Cpt Ii Deficiency, Lethal Neonatal:


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 23)
id Gene Variation Type Significance SNP ID Assembly Location
1CPT2NM_ 000098.2(CPT2): c.370C> T (p.Arg124Ter)SNVPathogenic/ Likely pathogenicrs201065226GRCh37Chr 1, 53675716: 53675716
2CPT2NM_ 000098.2(CPT2): c.110_ 111dupGC (p.Ser38Alafs)duplicationLikely pathogenicrs1057517466GRCh38Chr 1, 53197053: 53197054
3CPT2NM_ 000098.2(CPT2): c.1774_ 1775delCT (p.Leu592Glufs)deletionLikely pathogenicrs767004984GRCh38Chr 1, 53213392: 53213393
4CPT2NM_ 000098.2(CPT2): c.1645+2T> GSNVLikely pathogenicrs1057517473GRCh38Chr 1, 53211321: 53211321
5CPT2NM_ 000098.2(CPT2): c.1545_ 1548delCTTT (p.Phe516Serfs)deletionLikely pathogenicrs1057517477GRCh38Chr 1, 53211219: 53211222
6CPT2NM_ 000098.2(CPT2): c.1345C> T (p.Gln449Ter)SNVLikely pathogenicrs1057517492GRCh38Chr 1, 53211019: 53211019
7CPT2NM_ 000098.2(CPT2): c.75delC (p.Ser26Alafs)deletionLikely pathogenicrs1057517493GRCh38Chr 1, 53197018: 53197018
8CPT2NM_ 000098.2(CPT2): c.95delG (p.Gly32Alafs)deletionLikely pathogenicrs1057517494GRCh38Chr 1, 53197038: 53197038
9CPT2NM_ 000098.2(CPT2): c.606T> A (p.Tyr202Ter)SNVLikely pathogenicrs755830520GRCh38Chr 1, 53210280: 53210280
10CPT2NM_ 000098.2(CPT2): c.1414C> T (p.Gln472Ter)SNVLikely pathogenicrs754386565GRCh37Chr 1, 53676760: 53676760
11CPT2NM_ 000098.2(CPT2): c.1359_ 1362delAGAA (p.Lys453Asnfs)deletionLikely pathogenicrs1057517507GRCh37Chr 1, 53676705: 53676708
12CPT2NM_ 000098.2(CPT2): c.54_ 72dup19 (p.Leu25Glyfs)duplicationLikely pathogenicrs1057517510GRCh38Chr 1, 53196997: 53197015
13CPT2NM_ 000098.2(CPT2): c.1046dupA (p.Asn349Lysfs)duplicationLikely pathogenicrs1057517515GRCh38Chr 1, 53210720: 53210720
14CPT2NM_ 000098.2(CPT2): c.1614C> A (p.Tyr538Ter)SNVLikely pathogenicrs1057517517GRCh38Chr 1, 53211288: 53211288
15CPT2NM_ 000098.2(CPT2): c.1345delCinsTA (p.Gln449Terfs)indelLikely pathogenicrs1057517525GRCh37Chr 1, 53676691: 53676691
16CPT2NM_ 000098.2(CPT2): c.1053G> A (p.Trp351Ter)SNVLikely pathogenicrs761438840GRCh38Chr 1, 53210727: 53210727
17CPT2NM_ 000098.2(CPT2): c.338C> T (p.Ser113Leu)SNVPathogenicrs74315294GRCh37Chr 1, 53668099: 53668099
18CPT2NM_ 000098.2(CPT2): c.1148T> A (p.Phe383Tyr)SNVPathogenic/ Likely pathogenicrs74315295GRCh37Chr 1, 53676494: 53676494
19CPT2CPT2, 1-BP INS/25-BP DEL, NT534indelPathogenic
20CPT2CPT2, IVS2AS, G-A, -1SNVPathogenic
21CPT2CPT2, 11-BP DUP, NT997duplicationPathogenic
22CPT2CPT2, 3-BP DEL/5-BP INS, NT109indelPathogenic
23CPT2NM_ 000098.2(CPT2): c.359A> G (p.Tyr120Cys)SNVPathogenic/ Likely 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