MCID: PPC002

Pepck 2 Deficiency malady

Rare diseases, Metabolic diseases categories

Aliases & Classifications for Pepck 2 Deficiency

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Pepck 2 Deficiency:

Name: Pepck 2 Deficiency 45
Phosphoenolpyruvate Carboxykinase 2 Deficiency 45 51 65
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 65
Congenital Disorder of Glycosylation Type 1a 65
 
Pepck2 Deficiency 51
Pck2 Deficiency 45
Pepck2 45


Classifications:



External Ids:

Orphanet51 79317
ICD10 via Orphanet28 E74.4
MESH via Orphanet37 C536655
UMLS via Orphanet66 C2931278

Summaries for Pepck 2 Deficiency

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MalaCards based summary: Pepck 2 Deficiency, is also known as phosphoenolpyruvate carboxykinase 2 deficiency An important gene associated with Pepck 2 Deficiency is PCK2 (Phosphoenolpyruvate Carboxykinase 2 (Mitochondrial)).

Related Diseases for Pepck 2 Deficiency

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Symptoms for Pepck 2 Deficiency

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Drugs & Therapeutics for Pepck 2 Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pepck 2 Deficiency

Genetic Tests for Pepck 2 Deficiency

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Anatomical Context for Pepck 2 Deficiency

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Animal Models for Pepck 2 Deficiency or affiliated genes

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Publications for Pepck 2 Deficiency

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Variations for Pepck 2 Deficiency

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Expression for genes affiliated with Pepck 2 Deficiency

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Search GEO for disease gene expression data for Pepck 2 Deficiency.

Pathways for genes affiliated with Pepck 2 Deficiency

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GO Terms for genes affiliated with Pepck 2 Deficiency

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Sources for Pepck 2 Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet