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

Aliases & Descriptions for Cpt Ii Deficiency, Lethal Neonatal:

Name: Cpt Ii Deficiency, Lethal Neonatal 54 66 13
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 54 69
Carnitine Palmitoyltransferase 2 Deficiency, Lethal Neonatal 66 29
Carnitine Palmitoyl Transferase Deficiency Type 2, Lethal Systemic Form 56
Carnitine Palmitoyl Transferase Ii Deficiency, Lethal Systemic Form 56
Carnitine Palmitoyl Transferase Deficiency Type 2, Neonatal Form 56
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form 56
Carnitine Palmitoyltransferase Ii Deficiency, Antenatal 66
Carnitine Palmitoyltransferase Ii Deficiency, Neonatal 66
Lethal Neonatal Cpt-Ii Deficiency 66
Cpt2 Deficiency, Lethal Neonatal 66
Cptii, Lethal Systemic Form 56
Cpt2, Lethal Systemic Form 56
Cptii, Neonatal Form 56
Cpt2, Neonatal Form 56
Cpt2dln 66

Characteristics:

Orphanet epidemiological data:

56
carnitine palmitoyl transferase ii deficiency, neonatal form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

HPO:

32
cpt ii deficiency, lethal neonatal:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 608836
Orphanet 56 ORPHA228308
ICD10 via Orphanet 34 E71.3
MedGen 40 C1833518
MeSH 42 D008661

Summaries for Cpt Ii Deficiency, Lethal Neonatal

UniProtKB/Swiss-Prot : 66 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 fatigue, seizures and muscular hypotonia. An important gene associated with Cpt Ii Deficiency, Lethal Neonatal is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include kidney.

Description from OMIM: 608836

Related Diseases for Cpt Ii Deficiency, Lethal Neonatal

Diseases related to Cpt Ii Deficiency, Lethal Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 carnitine palmitoyltransferase ii deficiency 11.8

Symptoms & Phenotypes for Cpt Ii Deficiency, Lethal Neonatal

Symptoms by clinical synopsis from OMIM:

608836

Clinical features from OMIM:

608836

Human phenotypes related to Cpt Ii Deficiency, Lethal Neonatal:

56 32 (show top 50) (show all 62)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Very frequent (99-80%) HP:0012378
2 seizures 56 32 Very frequent (99-80%) HP:0001250
3 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
4 respiratory insufficiency 56 32 Very frequent (99-80%) HP:0002093
5 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
6 renal insufficiency 56 32 Frequent (79-30%) HP:0000083
7 arrhythmia 56 32 Very frequent (99-80%) HP:0011675
8 abnormality of nervous system morphology 56 32 Frequent (79-30%) HP:0012639
9 elevated hepatic transaminases 56 32 Very frequent (99-80%) HP:0002910
10 cardiomyopathy 56 32 Very frequent (99-80%) HP:0001638
11 multicystic kidney dysplasia 56 32 Very frequent (99-80%) HP:0000003
12 coma 56 32 Very frequent (99-80%) HP:0001259
13 hepatic failure 56 32 Very frequent (99-80%) HP:0001399
14 hypoketotic hypoglycemia 56 32 Very frequent (99-80%) HP:0001985
15 hepatic calcification 56 32 Frequent (79-30%) HP:0006559
16 respiratory distress 32 HP:0002098
17 lethargy 32 HP:0001254
18 low-set ears 32 HP:0000369
19 agenesis of corpus callosum 32 HP:0001274
20 high palate 32 HP:0000218
21 narrow palate 32 HP:0000189
22 cataract 32 HP:0000518
23 microcephaly 32 HP:0000252
24 neonatal hypotonia 32 HP:0001319
25 feeding difficulties in infancy 32 HP:0008872
26 cardiomegaly 32 HP:0001640
27 prominent forehead 32 HP:0011220
28 wide intermamillary distance 32 HP:0006610
29 hypoplastic toenails 32 HP:0001800
30 abnormality of the foot 32 HP:0001760
31 apnea 32 HP:0002104
32 ventriculomegaly 32 HP:0002119
33 polycystic kidney dysplasia 32 HP:0000113
34 respiratory failure 32 HP:0002878
35 overfolded helix 32 HP:0000396
36 bulbous nose 32 HP:0000414
37 high forehead 32 HP:0000348
38 hyperammonemia 32 HP:0001987
39 oligohydramnios 32 HP:0001562
40 hydronephrosis 32 HP:0000126
41 polymicrogyria 32 HP:0002126
42 tapered finger 32 HP:0001182
43 ureteral duplication 32 HP:0000073
44 sloping forehead 32 HP:0000340
45 dilated cardiomyopathy 32 HP:0001644
46 increased muscle lipid content 32 HP:0009058
47 knee flexion contracture 32 HP:0006380
48 posteriorly rotated ears 32 HP:0000358
49 intracerebral periventricular calcifications 32 HP:0007229
50 long toe 32 HP:0010511

UMLS symptoms related to Cpt Ii Deficiency, Lethal Neonatal:


lethargy, seizures, respiratory distress

Drugs & Therapeutics for Cpt Ii Deficiency, Lethal Neonatal

Search Clinical Trials , NIH Clinical Center for Cpt Ii Deficiency, Lethal Neonatal

Genetic Tests for Cpt Ii Deficiency, Lethal Neonatal

Genetic tests related to Cpt Ii Deficiency, Lethal Neonatal:

id Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 29

Anatomical Context for Cpt Ii Deficiency, Lethal Neonatal

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

39
Kidney

Publications for Cpt Ii Deficiency, Lethal Neonatal

Variations for Cpt Ii Deficiency, Lethal Neonatal

ClinVar genetic disease variations for Cpt Ii Deficiency, Lethal Neonatal:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1 CPT2 NM_000098.2(CPT2): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh37 Chromosome 1, 53668099: 53668099
2 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74315295 GRCh37 Chromosome 1, 53676494: 53676494
3 CPT2 CPT2, 1-BP INS/25-BP DEL, NT534 indel Pathogenic
4 CPT2 CPT2, IVS2AS, G-A, -1 single nucleotide variant Pathogenic
5 CPT2 CPT2, 11-BP DUP, NT997 duplication Pathogenic
6 CPT2 CPT2, 3-BP DEL/5-BP INS, NT109 indel Pathogenic
7 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918528 GRCh37 Chromosome 1, 53675705: 53675705
8 CPT2 NM_000098.2(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 GRCh37 Chromosome 1, 53675716: 53675716
9 CPT2 NM_000098.2(CPT2): c.54_72dup19 (p.Leu25Glyfs) duplication Likely pathogenic rs1057517510 GRCh38 Chromosome 1, 53196997: 53197015
10 CPT2 NM_000098.2(CPT2): c.75delC (p.Ser26Alafs) deletion Likely pathogenic rs1057517493 GRCh38 Chromosome 1, 53197018: 53197018
11 CPT2 NM_000098.2(CPT2): c.95delG (p.Gly32Alafs) deletion Likely pathogenic rs1057517494 GRCh38 Chromosome 1, 53197038: 53197038
12 CPT2 NM_000098.2(CPT2): c.110_111dupGC (p.Ser38Alafs) duplication Likely pathogenic rs1057517466 GRCh38 Chromosome 1, 53197053: 53197054
13 CPT2 NM_000098.2(CPT2): c.606T> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs755830520 GRCh38 Chromosome 1, 53210280: 53210280
14 CPT2 NM_000098.2(CPT2): c.1046dupA (p.Asn349Lysfs) duplication Likely pathogenic rs1057517515 GRCh38 Chromosome 1, 53210720: 53210720
15 CPT2 NM_000098.2(CPT2): c.1053G> A (p.Trp351Ter) single nucleotide variant Likely pathogenic rs761438840 GRCh38 Chromosome 1, 53210727: 53210727
16 CPT2 NM_000098.2(CPT2): c.1345C> T (p.Gln449Ter) single nucleotide variant Likely pathogenic rs1057517492 GRCh38 Chromosome 1, 53211019: 53211019
17 CPT2 NM_000098.2(CPT2): c.1345delCinsTA (p.Gln449Terfs) indel Likely pathogenic rs1057517525 GRCh37 Chromosome 1, 53676691: 53676691
18 CPT2 NM_000098.2(CPT2): c.1359_1362delAGAA (p.Lys453Asnfs) deletion Likely pathogenic rs1057517507 GRCh37 Chromosome 1, 53676705: 53676708
19 CPT2 NM_000098.2(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 GRCh37 Chromosome 1, 53676760: 53676760
20 CPT2 NM_000098.2(CPT2): c.1545_1548delCTTT (p.Phe516Serfs) deletion Likely pathogenic rs1057517477 GRCh38 Chromosome 1, 53211219: 53211222
21 CPT2 NM_000098.2(CPT2): c.1614C> A (p.Tyr538Ter) single nucleotide variant Likely pathogenic rs1057517517 GRCh38 Chromosome 1, 53211288: 53211288
22 CPT2 NM_000098.2(CPT2): c.1645+2T> G single nucleotide variant Likely pathogenic rs1057517473 GRCh38 Chromosome 1, 53211321: 53211321
23 CPT2 NM_000098.2(CPT2): c.1774_1775delCT (p.Leu592Glufs) deletion Likely pathogenic rs767004984 GRCh38 Chromosome 1, 53213392: 53213393

Expression for Cpt Ii Deficiency, Lethal Neonatal

Search GEO for disease gene expression data for Cpt Ii Deficiency, Lethal Neonatal.

Pathways for Cpt Ii Deficiency, Lethal Neonatal

GO Terms for Cpt Ii Deficiency, Lethal Neonatal

Sources for Cpt Ii Deficiency, Lethal Neonatal

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