CPT2DLN
MCID: CRN302
MIFTS: 28

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 40 73
Cpt Ii Deficiency, Lethal Neonatal 57 75 13
Carnitine Palmitoyltransferase Ii Deficiency, Antenatal 57 75
Carnitine Palmitoyltransferase Ii Deficiency, Neonatal 57 75
Cpt2 Deficiency, Lethal Neonatal 57 75
Carnitine Palmitoyl Transferase Deficiency Type 2, Lethal Systemic Form 59
Carnitine Palmitoyl Transferase Ii Deficiency, Lethal Systemic Form 59
Carnitine Palmitoyl Transferase Deficiency Type 2, Neonatal Form 59
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form 59
Carnitine Palmitoyltransferase 2 Deficiency, Lethal Neonatal 75
Lethal Neonatal Cpt-Ii Deficiency 75
Cptii, Lethal Systemic Form 59
Cpt2, Lethal Systemic Form 59
Cptii, Neonatal Form 59
Cpt2, Neonatal Form 59
Cpt2dln 75

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
carnitine palmitoyltransferase ii deficiency, lethal neonatal:
Inheritance autosomal recessive inheritance


Classifications:



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)

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, respiratory distress and apnea. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include kidney, liver and heart, and related phenotypes are seizures and muscular hypotonia

UniProtKB/Swiss-Prot : 75 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 12.1

Symptoms & Phenotypes for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
overfolded helices
posteriorly-rotated ears

Head And Neck Mouth:
narrow palate
high-arched palate

Head And Neck Head:
microcephaly

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

Respiratory:
respiratory distress
apnea
respiratory failure

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

Neurologic Central Nervous System:
seizures
neonatal hypotonia
ventriculomegaly
lethargy
polymicrogyria
more
Abdomen Liver:
hepatomegaly
macrovesicular steatosis
lipid accumulation in hepatocytes
liver calcifications

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

Laboratory Abnormalities:
hyperammonemia
increased total bilirubin
increased liver function tests
increased plasma long-chain acylcarnitines
increased tissue 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

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

59 32 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
3 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
4 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
5 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
6 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
7 arrhythmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011675
8 abnormality of nervous system morphology 59 32 frequent (33%) Frequent (79-30%) HP:0012639
9 cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001638
10 multicystic kidney dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000003
11 coma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001259
12 hepatic failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001399
13 hypoketotic hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001985
14 hepatic calcification 59 32 frequent (33%) Frequent (79-30%) HP:0006559
15 low-set ears 32 HP:0000369
16 agenesis of corpus callosum 32 HP:0001274
17 high palate 32 HP:0000218
18 narrow palate 32 HP:0000189
19 cataract 32 HP:0000518
20 microcephaly 32 HP:0000252
21 neonatal hypotonia 32 HP:0001319
22 feeding difficulties in infancy 32 HP:0008872
23 cardiomegaly 32 HP:0001640
24 prominent forehead 32 HP:0011220
25 respiratory distress 32 HP:0002098
26 wide intermamillary distance 32 HP:0006610
27 hypoplastic toenails 32 HP:0001800
28 elevated hepatic transaminases 59 Very frequent (99-80%)
29 abnormality of the foot 32 HP:0001760
30 dilated cardiomyopathy 32 HP:0001644
31 elbow flexion contracture 32 HP:0002987
32 apnea 32 HP:0002104
33 ventriculomegaly 32 HP:0002119
34 polycystic kidney dysplasia 32 HP:0000113
35 respiratory failure 32 HP:0002878
36 overfolded helix 32 HP:0000396
37 bulbous nose 32 HP:0000414
38 high forehead 32 HP:0000348
39 hyperammonemia 32 HP:0001987
40 oligohydramnios 32 occasional (7.5%) HP:0001562
41 lethargy 32 HP:0001254
42 hydronephrosis 32 HP:0000126
43 polymicrogyria 32 HP:0002126
44 tapered finger 32 HP:0001182
45 ureteral duplication 32 HP:0000073
46 sloping forehead 32 HP:0000340
47 enlarged kidney 32 HP:0000105
48 increased muscle lipid content 32 HP:0009058
49 knee flexion contracture 32 HP:0006380
50 posteriorly rotated ears 32 HP:0000358

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


seizures, respiratory distress, apnea, lethargy

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:

41
Kidney, Liver, Heart, Testes, Skeletal Muscle

Publications for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Variations for Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

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

6 (show all 48)
# 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.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs74315294 GRCh38 Chromosome 1, 53202427: 53202427
3 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Likely pathogenic rs74315295 GRCh37 Chromosome 1, 53676494: 53676494
4 CPT2 NM_000098.2(CPT2): c.1148T> A (p.Phe383Tyr) single nucleotide variant Likely pathogenic rs74315295 GRCh38 Chromosome 1, 53210822: 53210822
5 CPT2 CPT2, 1-BP INS/25-BP DEL, NT534 indel Pathogenic
6 CPT2 CPT2, IVS2AS, G-A, -1 single nucleotide variant Pathogenic
7 CPT2 CPT2, 11-BP DUP, NT997 duplication Pathogenic
8 CPT2 NM_000098.2(CPT2): c.680C> T (p.Pro227Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs74315298 GRCh37 Chromosome 1, 53676026: 53676026
9 CPT2 NM_000098.2(CPT2): c.680C> T (p.Pro227Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs74315298 GRCh38 Chromosome 1, 53210354: 53210354
10 CPT2 CPT2, 3-BP DEL/5-BP INS, NT109 indel Pathogenic
11 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 GRCh37 Chromosome 1, 53675705: 53675705
12 CPT2 NM_000098.2(CPT2): c.359A> G (p.Tyr120Cys) single nucleotide variant Likely pathogenic rs121918528 GRCh38 Chromosome 1, 53210033: 53210033
13 CPT2 NM_000098.2(CPT2): c.1055T> G (p.Phe352Cys) single nucleotide variant Benign/Likely benign rs2229291 GRCh37 Chromosome 1, 53676401: 53676401
14 CPT2 NM_000098.2(CPT2): c.1055T> G (p.Phe352Cys) single nucleotide variant Benign/Likely benign rs2229291 GRCh38 Chromosome 1, 53210729: 53210729
15 CPT2 NM_000098.2(CPT2): c.1939A> G (p.Met647Val) single nucleotide variant Benign/Likely benign rs1799822 GRCh37 Chromosome 1, 53679229: 53679229
16 CPT2 NM_000098.2(CPT2): c.1939A> G (p.Met647Val) single nucleotide variant Benign/Likely benign rs1799822 GRCh38 Chromosome 1, 53213557: 53213557
17 CPT2 NM_000098.2(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 GRCh37 Chromosome 1, 53675716: 53675716
18 CPT2 NM_000098.2(CPT2): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201065226 GRCh38 Chromosome 1, 53210044: 53210044
19 CPT2 NM_000098.2(CPT2): c.54_72dup19 (p.Leu25Glyfs) duplication Likely pathogenic rs1057517510 GRCh38 Chromosome 1, 53196997: 53197015
20 CPT2 NM_000098.2(CPT2): c.54_72dup19 (p.Leu25Glyfs) duplication Likely pathogenic rs1057517510 GRCh37 Chromosome 1, 53662669: 53662687
21 CPT2 NM_000098.2(CPT2): c.75delC (p.Ser26Alafs) deletion Likely pathogenic rs1057517493 GRCh38 Chromosome 1, 53197018: 53197018
22 CPT2 NM_000098.2(CPT2): c.75delC (p.Ser26Alafs) deletion Likely pathogenic rs1057517493 GRCh37 Chromosome 1, 53662690: 53662690
23 CPT2 NM_000098.2(CPT2): c.95delG (p.Gly32Alafs) deletion Likely pathogenic rs1057517494 GRCh38 Chromosome 1, 53197038: 53197038
24 CPT2 NM_000098.2(CPT2): c.95delG (p.Gly32Alafs) deletion Likely pathogenic rs1057517494 GRCh37 Chromosome 1, 53662710: 53662710
25 CPT2 NM_000098.2(CPT2): c.110_111dupGC (p.Ser38Alafs) duplication Likely pathogenic rs1057517466 GRCh38 Chromosome 1, 53197053: 53197054
26 CPT2 NM_000098.2(CPT2): c.110_111dupGC (p.Ser38Alafs) duplication Likely pathogenic rs1057517466 GRCh37 Chromosome 1, 53662725: 53662726
27 CPT2 NM_000098.2(CPT2): c.606T> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs755830520 GRCh38 Chromosome 1, 53210280: 53210280
28 CPT2 NM_000098.2(CPT2): c.606T> A (p.Tyr202Ter) single nucleotide variant Likely pathogenic rs755830520 GRCh37 Chromosome 1, 53675952: 53675952
29 CPT2 NM_000098.2(CPT2): c.1046dupA (p.Asn349Lysfs) duplication Likely pathogenic rs1057517515 GRCh38 Chromosome 1, 53210720: 53210720
30 CPT2 NM_000098.2(CPT2): c.1046dupA (p.Asn349Lysfs) duplication Likely pathogenic rs1057517515 GRCh37 Chromosome 1, 53676392: 53676392
31 CPT2 NM_000098.2(CPT2): c.1053G> A (p.Trp351Ter) single nucleotide variant Likely pathogenic rs761438840 GRCh38 Chromosome 1, 53210727: 53210727
32 CPT2 NM_000098.2(CPT2): c.1053G> A (p.Trp351Ter) single nucleotide variant Likely pathogenic rs761438840 GRCh37 Chromosome 1, 53676399: 53676399
33 CPT2 NM_000098.2(CPT2): c.1345C> T (p.Gln449Ter) single nucleotide variant Likely pathogenic rs1057517492 GRCh38 Chromosome 1, 53211019: 53211019
34 CPT2 NM_000098.2(CPT2): c.1345C> T (p.Gln449Ter) single nucleotide variant Likely pathogenic rs1057517492 GRCh37 Chromosome 1, 53676691: 53676691
35 CPT2 NM_000098.2(CPT2): c.1345delCinsTA (p.Gln449Terfs) indel Likely pathogenic rs1057517525 GRCh38 Chromosome 1, 53211019: 53211019
36 CPT2 NM_000098.2(CPT2): c.1345delCinsTA (p.Gln449Terfs) indel Likely pathogenic rs1057517525 GRCh37 Chromosome 1, 53676691: 53676691
37 CPT2 NM_000098.2(CPT2): c.1359_1362delAGAA (p.Lys453Asnfs) deletion Likely pathogenic rs1057517507 GRCh38 Chromosome 1, 53211033: 53211036
38 CPT2 NM_000098.2(CPT2): c.1359_1362delAGAA (p.Lys453Asnfs) deletion Likely pathogenic rs1057517507 GRCh37 Chromosome 1, 53676705: 53676708
39 CPT2 NM_000098.2(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 GRCh37 Chromosome 1, 53676760: 53676760
40 CPT2 NM_000098.2(CPT2): c.1414C> T (p.Gln472Ter) single nucleotide variant Likely pathogenic rs754386565 GRCh38 Chromosome 1, 53211088: 53211088
41 CPT2 NM_000098.2(CPT2): c.1545_1548delCTTT (p.Phe516Serfs) deletion Likely pathogenic rs1057517477 GRCh38 Chromosome 1, 53211219: 53211222
42 CPT2 NM_000098.2(CPT2): c.1545_1548delCTTT (p.Phe516Serfs) deletion Likely pathogenic rs1057517477 GRCh37 Chromosome 1, 53676891: 53676894
43 CPT2 NM_000098.2(CPT2): c.1614C> A (p.Tyr538Ter) single nucleotide variant Likely pathogenic rs1057517517 GRCh38 Chromosome 1, 53211288: 53211288
44 CPT2 NM_000098.2(CPT2): c.1614C> A (p.Tyr538Ter) single nucleotide variant Likely pathogenic rs1057517517 GRCh37 Chromosome 1, 53676960: 53676960
45 CPT2 NM_000098.2(CPT2): c.1645+2T> G single nucleotide variant Likely pathogenic rs1057517473 GRCh38 Chromosome 1, 53211321: 53211321
46 CPT2 NM_000098.2(CPT2): c.1645+2T> G single nucleotide variant Likely pathogenic rs1057517473 GRCh37 Chromosome 1, 53676993: 53676993
47 CPT2 NM_000098.2(CPT2): c.1774_1775delCT (p.Leu592Glufs) deletion Likely pathogenic rs767004984 GRCh38 Chromosome 1, 53213392: 53213393
48 CPT2 NM_000098.2(CPT2): c.1774_1775delCT (p.Leu592Glufs) deletion Likely pathogenic rs767004984 GRCh37 Chromosome 1, 53679064: 53679065

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

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