CPT2DLN
MCID: CRN302
MIFTS: 33

Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal (CPT2DLN)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

MalaCards integrated aliases for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal:

Name: Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 57 29 6 39 70
Cpt Ii Deficiency, Lethal Neonatal 57 72 13
Carnitine Palmitoyltransferase Ii Deficiency, Antenatal 57 72
Carnitine Palmitoyltransferase Ii Deficiency, Neonatal 57 72
Cpt2 Deficiency, Lethal Neonatal 57 72
Carnitine Palmitoyl Transferase Deficiency Type 2, Lethal Systemic Form 58
Carnitine Palmitoyl Transferase Ii Deficiency, Lethal Systemic Form 58
Carnitine Palmitoyl Transferase Deficiency Type 2, Neonatal Form 58
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form 58
Carnitine Palmitoyltransferase 2 Deficiency, Lethal Neonatal 72
Lethal Neonatal Cpt-Ii Deficiency 72
Cptii, Lethal Systemic Form 58
Cpt2, Lethal Systemic Form 58
Cptii, Neonatal Form 58
Cpt2, Neonatal Form 58
Cpt2dln 72

Characteristics:

Orphanet epidemiological data:

58
carnitine palmitoyl transferase ii deficiency, neonatal form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
sudden death within first days of life
see also infantile and late-onset cpt ii deficiency


HPO:

31
carnitine palmitoyltransferase ii deficiency, lethal neonatal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

OMIM® : 57 Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The neonatal form presents shortly after birth with respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. This form is rapidly fatal (summary by Longo et al., 2006). See also the infantile (600649) and adult-onset (255110) forms of the disorder, which are also caused by mutation in the CPT2 gene. (608836) (Updated 20-May-2021)

MalaCards based summary : Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal, also known as cpt ii deficiency, lethal neonatal, is related to carnitine palmitoyltransferase ii deficiency, infantile, and has symptoms including seizures, apnea and lethargy. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include kidney, heart and skeletal muscle, and related phenotypes are myoglobinuria and decreased plasma total carnitine

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

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

# Related Disease Score Top Affiliating Genes
1 carnitine palmitoyltransferase ii deficiency, infantile 11.6

Symptoms & Phenotypes for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Human phenotypes related to Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal:

58 31 (show top 50) (show all 86)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoglobinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002913
2 decreased plasma total carnitine 58 31 hallmark (90%) Very frequent (99-80%) HP:0011936
3 red-brown urine 58 31 hallmark (90%) Very frequent (99-80%) HP:0040320
4 decreased plasma free carnitine 58 31 hallmark (90%) Very frequent (99-80%) HP:0008315
5 elevated circulating acylcarnitine concentration 31 hallmark (90%) HP:0045045
6 reduced carnitine o-palmitoyltransferase level 31 hallmark (90%) HP:0012380
7 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
8 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
9 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
10 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
11 neonatal respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002643
12 hyperlipidemia 58 31 frequent (33%) Frequent (79-30%) HP:0003077
13 arrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0011675
14 polycystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000113
15 hepatic failure 58 31 frequent (33%) Frequent (79-30%) HP:0001399
16 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
17 cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001638
18 cystic renal dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000800
19 hypoketotic hypoglycemia 58 31 frequent (33%) Frequent (79-30%) HP:0001985
20 dicarboxylic aciduria 58 31 frequent (33%) Frequent (79-30%) HP:0003215
21 seizure 31 frequent (33%) HP:0001250
22 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
23 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640
24 hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001397
25 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
26 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
27 hyperammonemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001987
28 polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002126
29 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
30 heart block 58 31 occasional (7.5%) Occasional (29-5%) HP:0012722
31 metabolic acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001942
32 coma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001259
33 cerebellar vermis hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001320
34 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
35 tubulointerstitial nephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001970
36 intracerebral periventricular calcifications 58 31 occasional (7.5%) Occasional (29-5%) HP:0007229
37 abnormality of the basal ganglia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002134
38 hepatic calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0006559
39 renal tubular epithelial necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008682
40 oligohydramnios 31 occasional (7.5%) HP:0001562
41 seizures 58 Frequent (79-30%)
42 cerebral calcification 58 Frequent (79-30%)
43 high palate 31 HP:0000218
44 respiratory insufficiency 31 HP:0002093
45 cataract 31 HP:0000518
46 narrow palate 31 HP:0000189
47 microcephaly 31 HP:0000252
48 neonatal hypotonia 31 HP:0001319
49 feeding difficulties in infancy 31 HP:0008872
50 prominent forehead 31 HP:0011220

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
neonatal hypotonia
ventriculomegaly
polymicrogyria
lethargy
more
Head And Neck Mouth:
narrow palate
high-arched palate

Genitourinary Kidneys:
renal insufficiency
hydronephrosis
enlarged polycystic kidneys (detectable prenatally)
dysplastic renal parenchyma
lipid accumulation in kidney, especially in proximal convoluted tubules

Head And Neck Face:
prominent forehead
high, sloping forehead

Skin Nails Hair Nails:
hypoplastic toenails

Head And Neck Nose:
bulbous nose

Metabolic Features:
nonketotic hypoglycemia

Head And Neck Eyes:
cataracts

Skeletal Limbs:
contractures of elbows
contractures of knees

Skeletal Hands:
long, tapering fingers
extra digital creases in digits 2-4

Muscle Soft Tissue:
lipid accumulation in skeletal muscle

Abdomen Liver:
hepatomegaly
lipid accumulation in hepatocytes
macrovesicular steatosis
liver calcifications

Head And Neck Head:
microcephaly

Cardiovascular Heart:
cardiomegaly
dilated cardiomyopathy
arrhythmias
thickened myocardium
lipid accumulation in heart

Head And Neck Ears:
low-set ears
overfolded helices
posteriorly-rotated ears

Respiratory:
apnea
respiratory failure
respiratory distress

Laboratory Abnormalities:
hyperammonemia
increased total bilirubin
long-chain dicarboxylic aciduria
increased liver function tests
increased plasma long-chain acylcarnitines
more
Chest Breasts:
widely spaced nipples

Abdomen Gastrointestinal:
poor feeding

Genitourinary Ureters:
double ureters

Skeletal Feet:
long, tapering toes

Prenatal Manifestations Amniotic Fluid:
oligohydramnios in some cases

Clinical features from OMIM®:

608836 (Updated 20-May-2021)

UMLS symptoms related to Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal:


seizures; apnea; lethargy; respiratory distress

Drugs & Therapeutics for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Search Clinical Trials , NIH Clinical Center for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Genetic Tests for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Genetic tests related to Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal:

# Genetic test Affiliating Genes
1 Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal 29 CPT2

Anatomical Context for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

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

40
Kidney, Heart, Skeletal Muscle, Liver, Brain

Publications for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Articles related to Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal:

(show all 26)
# Title Authors PMID Year
1
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency. 57 6
18550408 2008
2
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. 6 57
12410208 2002
3
Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. 6 57
11389301 2001
4
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
5
Metabolic disease in 10 patients with sudden unexpected death in infancy or acute life-threatening events. 6
25919294 2015
6
Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants. 6
22854105 2013
7
Fatty Acid oxidation disorders in a chinese population in taiwan. 6
23700290 2013
8
Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening. 6
21227726 2011
9
Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency. 6
18363739 2008
10
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. 6
16996287 2006
11
Disorders of carnitine transport and the carnitine cycle. 57
16602102 2006
12
The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment. 6
16615913 2006
13
Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach. 57
14634971 2003
14
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency. 6
12673791 2003
15
Lethal neonatal carnitine palmitoyltransferase II deficiency: an unusual presentation of a rare disorder. 57
12638078 2003
16
A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency. 6
12560872 2003
17
A novel nonsense mutation (515del4) in muscle carnitine palmitoyltransferase II deficiency. 6
11855939 2002
18
Antenatal presentation of carnitine palmitoyltransferase II deficiency. 57
11477613 2001
19
Identification of novel mutations in Spanish patients with muscle carnitine palmitoyltransferase II deficiency. 6
10862092 2000
20
Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features. 57
9924637 1999
21
Novel mutations associated with carnitine palmitoyltransferase II deficiency. 57
10090476 1999
22
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. 6
9600456 1998
23
Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. 57
7658272 1995
24
Neonatal carnitine palmitoyltransferase-2 deficiency: a case presenting with myopathy. 57
7767092 1995
25
Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. 57
1961225 1991
26
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death. 61
21641254 2011

Variations for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

ClinVar genetic disease variations for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal:

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPT2 CPT2, 1-BP INS/25-BP DEL, NT534 Indel Pathogenic 8961 GRCh37:
GRCh38:
2 CPT2 NM_000098.3(CPT2):c.234-1G>A SNV Pathogenic 8962 rs1557713988 GRCh37: 1:53667994-53667994
GRCh38: 1:53202322-53202322
3 CPT2 CPT2, 11-BP DUP, NT997 Duplication Pathogenic 8963 GRCh37:
GRCh38:
4 CPT2 CPT2, 3-BP DEL/5-BP INS, NT109 Indel Pathogenic 8965 GRCh37:
GRCh38:
5 CPT2 NM_000098.3(CPT2):c.1459G>T (p.Glu487Ter) SNV Pathogenic 974479 GRCh37: 1:53676805-53676805
GRCh38: 1:53211133-53211133
6 CPT2 NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter) SNV Pathogenic 188753 rs756931329 GRCh37: 1:53676715-53676715
GRCh38: 1:53211043-53211043
7 CPT2 NM_000098.3(CPT2):c.680C>T (p.Pro227Leu) SNV Pathogenic 8964 rs74315298 GRCh37: 1:53676026-53676026
GRCh38: 1:53210354-53210354
8 CPT2 NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) SNV Pathogenic 8953 rs74315294 GRCh37: 1:53668099-53668099
GRCh38: 1:53202427-53202427
9 CPT2 NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) SNV Pathogenic 203659 rs201065226 GRCh37: 1:53675716-53675716
GRCh38: 1:53210044-53210044
10 CPT2 NM_000098.3(CPT2):c.1567_1568CA[1] (p.His523fs) Microsatellite Pathogenic 633182 rs1572385947 GRCh37: 1:53676913-53676914
GRCh38: 1:53211241-53211242
11 CPT2 NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) SNV Pathogenic 8953 rs74315294 GRCh37: 1:53668099-53668099
GRCh38: 1:53202427-53202427
12 CPT2 NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) SNV Pathogenic 8958 rs74315295 GRCh37: 1:53676494-53676494
GRCh38: 1:53210822-53210822
13 CPT2 NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) SNV Pathogenic 8953 rs74315294 GRCh37: 1:53668099-53668099
GRCh38: 1:53202427-53202427
14 CPT2 NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) SNV Pathogenic 8958 rs74315295 GRCh37: 1:53676494-53676494
GRCh38: 1:53210822-53210822
15 CPT2 NM_000098.3(CPT2):c.149C>A (p.Pro50His) SNV Pathogenic 8954 rs28936375 GRCh37: 1:53662764-53662764
GRCh38: 1:53197092-53197092
16 CPT2 NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) SNV Likely pathogenic 8968 rs121918528 GRCh37: 1:53675705-53675705
GRCh38: 1:53210033-53210033
17 CPT2 NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) SNV Likely pathogenic 8959 rs74315296 GRCh37: 1:53676853-53676853
GRCh38: 1:53211181-53211181
18 CPT2 NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) SNV Likely pathogenic 523331 rs749895856 GRCh37: 1:53676782-53676782
GRCh38: 1:53211110-53211110
19 CPT2 NM_000098.3(CPT2):c.108_109GC[3] (p.Ser38fs) Microsatellite Likely pathogenic 371697 rs754363068 GRCh37: 1:53662722-53662723
GRCh38: 1:53197050-53197051
20 CPT2 NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) SNV Likely pathogenic 8968 rs121918528 GRCh37: 1:53675705-53675705
GRCh38: 1:53210033-53210033
21 CPT2 NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr) SNV Likely pathogenic 8958 rs74315295 GRCh37: 1:53676494-53676494
GRCh38: 1:53210822-53210822
22 CPT2 NM_000098.3(CPT2):c.251G>A (p.Cys84Tyr) SNV Likely pathogenic 974480 GRCh37: 1:53668012-53668012
GRCh38: 1:53202340-53202340
23 CPT2 NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) SNV Likely pathogenic 203659 rs201065226 GRCh37: 1:53675716-53675716
GRCh38: 1:53210044-53210044
24 CPT2 NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) Indel Likely pathogenic 371775 rs1057517525 GRCh37: 1:53676691-53676691
GRCh38: 1:53211019-53211019
25 CPT2 NM_000098.3(CPT2):c.764A>G (p.Asp255Gly) SNV Likely pathogenic 830057 rs199673903 GRCh37: 1:53676110-53676110
GRCh38: 1:53210438-53210438
26 CPT2 NM_000098.3(CPT2):c.1033G>A (p.Gly345Arg) SNV Likely pathogenic 830058 rs771214714 GRCh37: 1:53676379-53676379
GRCh38: 1:53210707-53210707
27 CPT2 NM_000098.3(CPT2):c.606T>A (p.Tyr202Ter) SNV Likely pathogenic 371734 rs755830520 GRCh37: 1:53675952-53675952
GRCh38: 1:53210280-53210280
28 CPT2 NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs) Deletion Likely pathogenic 371712 rs1057517477 GRCh37: 1:53676891-53676894
GRCh38: 1:53211219-53211222
29 CPT2 NM_000098.3(CPT2):c.1053G>A (p.Trp351Ter) SNV Likely pathogenic 371785 rs761438840 GRCh37: 1:53676399-53676399
GRCh38: 1:53210727-53210727
30 CPT2 NM_000098.3(CPT2):c.95del (p.Gly32fs) Deletion Likely pathogenic 371733 rs1057517494 GRCh37: 1:53662709-53662709
GRCh38: 1:53197037-53197037
31 CPT2 NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) SNV Likely pathogenic 371750 rs754386565 GRCh37: 1:53676760-53676760
GRCh38: 1:53211088-53211088
32 CPT2 NM_000098.3(CPT2):c.1645+2T>G SNV Likely pathogenic 371707 rs1057517473 GRCh37: 1:53676993-53676993
GRCh38: 1:53211321-53211321
33 CPT2 NM_000098.3(CPT2):c.1614C>A (p.Tyr538Ter) SNV Likely pathogenic 371764 rs1057517517 GRCh37: 1:53676960-53676960
GRCh38: 1:53211288-53211288
34 CPT2 NM_000098.3(CPT2):c.1359_1362del (p.Lys453fs) Deletion Likely pathogenic 371754 rs1057517507 GRCh37: 1:53676703-53676706
GRCh38: 1:53211031-53211034
35 CPT2 NM_000098.3(CPT2):c.75del (p.Ser26fs) Deletion Likely pathogenic 371730 rs1057517493 GRCh37: 1:53662690-53662690
GRCh38: 1:53197018-53197018
36 CPT2 NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter) SNV Likely pathogenic 371729 rs1057517492 GRCh37: 1:53676691-53676691
GRCh38: 1:53211019-53211019
37 CPT2 NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs) Deletion Likely pathogenic 371705 rs767004984 GRCh37: 1:53679064-53679065
GRCh38: 1:53213392-53213393
38 CPT2 NM_000098.3(CPT2):c.54_72dup (p.Leu25fs) Duplication Likely pathogenic 371757 rs1057517510 GRCh37: 1:53662666-53662667
GRCh38: 1:53196994-53196995
39 CPT2 NM_000098.3(CPT2):c.1046dup (p.Asn349fs) Duplication Likely pathogenic 371762 rs1057517515 GRCh37: 1:53676389-53676390
GRCh38: 1:53210717-53210718
40 CPT2 NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter) SNV Likely pathogenic 371750 rs754386565 GRCh37: 1:53676760-53676760
GRCh38: 1:53211088-53211088
41 CPT2 NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) SNV Uncertain significance 529857 rs144760921 GRCh37: 1:53675846-53675846
GRCh38: 1:53210174-53210174
42 CPT2 NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) SNV Uncertain significance 376799 rs144658100 GRCh37: 1:53676371-53676371
GRCh38: 1:53210699-53210699
43 CPT2 NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg) SNV Uncertain significance 447218 rs201508063 GRCh37: 1:53676784-53676784
GRCh38: 1:53211112-53211112
44 CPT2 NM_000098.3(CPT2):c.1448T>C (p.Val483Ala) SNV Uncertain significance 529861 rs1324631593 GRCh37: 1:53676794-53676794
GRCh38: 1:53211122-53211122
45 CPT2 NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) SNV Uncertain significance 529864 rs61731996 GRCh37: 1:53676823-53676823
GRCh38: 1:53211151-53211151
46 CPT2 NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln) SNV Uncertain significance 460426 rs199996641 GRCh37: 1:53678969-53678969
GRCh38: 1:53213297-53213297
47 CPT2 NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) SNV Benign 92428 rs2229291 GRCh37: 1:53676401-53676401
GRCh38: 1:53210729-53210729
48 CPT2 NM_000098.3(CPT2):c.1939A>G (p.Met647Val) SNV Benign 92433 rs1799822 GRCh37: 1:53679229-53679229
GRCh38: 1:53213557-53213557
49 CPT2 NM_000098.3(CPT2):c.863del (p.Leu288fs) Deletion not provided 918024 GRCh37: 1:53676209-53676209
GRCh38: 1:53210537-53210537

Expression for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

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

Pathways for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

GO Terms for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Sources for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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