MCID: CPT005
MIFTS: 18

Cpt Ii Deficiency, Lethal Neonatal malady

Neuronal diseases, Rare diseases categories

Summaries for Cpt Ii Deficiency, Lethal Neonatal

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48OMIM, 34MalaCards
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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:48 608836

Aliases & Classifications for Cpt Ii Deficiency, Lethal Neonatal

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Sources:
48OMIM, 50Orphanet, 27ICD10 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):

50
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 48
carnitine palmitoyl transferase deficiency type 2, lethal systemic form 50
carnitine palmitoyl transferase ii deficiency, lethal systemic form 50
carnitine palmitoyl transferase deficiency type 2, neonatal form 50
carnitine palmitoyl transferase ii deficiency, neonatal form 50
cptii, lethal systemic form 50
cpt2, lethal systemic form 50
cptii, neonatal form 50
cpt2, neonatal form 50


External Ids:

OMIM48 608836
ICD10 via Orphanet27 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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

608836

Clinical features from OMIM:

608836

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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

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Genetic Tests for Cpt Ii Deficiency, Lethal Neonatal

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Anatomical Context for Cpt Ii Deficiency, Lethal Neonatal

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34MalaCards
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MalaCards organs/tissues related to Cpt Ii Deficiency, Lethal Neonatal:

34
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet