MCID: CPT005
MIFTS: 18

Cpt Ii Deficiency, Lethal Neonatal malady

Neuronal diseases, Rare diseases categories
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Summaries for Cpt Ii Deficiency, Lethal Neonatal

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47OMIM, 33MalaCards
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MalaCards: Cpt Ii Deficiency, Lethal Neonatal, is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form, and has symptoms including abnormal hepatic enzymes/transaminases, multicystic kidney/renal dysplasia and structural anomalies of the nervous system. An important gene associated with Cpt Ii Deficiency, Lethal Neonatal is CPT2 (carnitine palmitoyltransferase 2). Affiliated tissues include kidney and liver.

Description from OMIM:47 608836

Aliases & Classifications for Cpt Ii Deficiency, Lethal Neonatal

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47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
carnitine palmitoyl transferase deficiency type 2, lethal systemic form:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

cpt ii deficiency, lethal neonatal 47
carnitine palmitoyl transferase deficiency type 2, lethal systemic form 49
carnitine palmitoyl transferase ii deficiency, lethal systemic form 49
carnitine palmitoyl transferase deficiency type 2, neonatal form 49
carnitine palmitoyl transferase ii deficiency, neonatal form 49
cptii, lethal systemic form 49
cpt2, lethal systemic form 49
cptii, neonatal form 49
cpt2, neonatal form 49


External Ids:

OMIM47 608836
ICD10 via Orphanet26 E71.3

Related Diseases for Cpt Ii Deficiency, Lethal Neonatal

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Symptoms for Cpt Ii Deficiency, Lethal Neonatal

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

608836

Clinical features from OMIM:

608836

Symptoms:

49 (show all 12)
  • abnormal hepatic enzymes/transaminases
  • multicystic kidney/renal dysplasia
  • structural anomalies of the nervous system
  • hypoglycemia
  • cardiac rhythm disorder/arrhythmia
  • cardiomegaly
  • renal failure
  • asthenia/fatigue/weakness
  • hepatomegaly/liver enlargement (excluding storage disease)
  • intracranial/cerebral calcifications
  • seizures/epilepsy/absences/spasms/status epilepticus
  • autosomal recessive inheritance

Drugs & Therapeutics for Cpt Ii Deficiency, Lethal Neonatal

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Cpt Ii Deficiency, Lethal Neonatal

Search NIH Clinical Center for Cpt Ii Deficiency, Lethal Neonatal

Genetic Tests for Cpt Ii Deficiency, Lethal Neonatal

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Anatomical Context for Cpt Ii Deficiency, Lethal Neonatal

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33MalaCards
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MalaCards organs/tissues related to Cpt Ii Deficiency, Lethal Neonatal:

33
Kidney, Liver

Animal Models for Cpt Ii Deficiency, Lethal Neonatal or affiliated genes

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Publications for Cpt Ii Deficiency, Lethal Neonatal

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Variations for Cpt Ii Deficiency, Lethal Neonatal

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Cpt Ii Deficiency, Lethal Neonatal:

1
id Gene Name Type Significance SNP ID Assembly Location
1CPT2CPT2, 1-BP INS, 534T/25-BP DEL, NT534indelPathogenic/card/cpt_ii_deficiency_lethal_neonatal
2CPT2CPT2, IVS2AS, G-A, -1single nucleotide variantPathogenic/card/cpt_ii_deficiency_lethal_neonatal
3CPT2CPT2, 11-BP DUPduplicationPathogenic/card/cpt_ii_deficiency_lethal_neonatal
4CPT2NM_000098.2(CPT2): c.680C> T (p.Pro227Leu)single nucleotide variantPathogenicrs74315298GRCh37Chr 1, 53676026: 53676026
5CPT2CPT2, 3-BP DEL, 109AGC AND 5-BP INS, 109GCAGCindelPathogenic

Expression for genes affiliated with Cpt Ii Deficiency, Lethal Neonatal

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cpt Ii Deficiency, Lethal Neonatal

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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Compounds 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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Products for genes affiliated with Cpt Ii Deficiency, Lethal Neonatal

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cpt Ii Deficiency, Lethal Neonatal

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet