MCID: PPC002
MIFTS: 17

Pepck 2 Deficiency malady

Rare diseases, Metabolic diseases categories

Aliases & Classifications for Pepck 2 Deficiency

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Sources:
41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Pepck 2 Deficiency, Aliases & Descriptions:

Name: Pepck 2 Deficiency 41
Phosphoenolpyruvate Carboxykinase 2 Deficiency 41 47 60
Congenital Disorder of Glycosylation Type 1a 41 60
Congenital Disorder of Glycosylation Type Ia 41 21
Phosphomannomutase 2 Deficiency 41 21
Cdg Ia 21 43
Cdg1a 41 21
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 60
Carbohydrate Deficient Glycoprotein Syndrome Type Ia 41
 
Carbohydrate-Deficient Glycoprotein Syndrome Type Ia 21
Cdg Syndrome Type Ia 41
Pepck2 Deficiency 47
Pck2 Deficiency 41
Jaeken Syndrome 21
Pmm Deficiency 21
Cdg-Ia 41
Cdgs1a 21
Pepck2 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Metabolic diseases


External Ids:

Orphanet47 79317
MESH via Orphanet34 C536655
ICD10 via Orphanet26 E74.4
UMLS via Orphanet61 C2931278

Summaries for Pepck 2 Deficiency

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Genetics Home Reference:21 Congenital disorder of glycosylation type Ia (CDG-Ia), also known as phosphomannomutase 2 deficiency, is an inherited condition that affects many parts of the body. The type and severity of problems associated with CDG-Ia vary widely among affected individuals, sometimes even among members of the same family.

MalaCards based summary: Pepck 2 Deficiency, also known as phosphoenolpyruvate carboxykinase 2 deficiency, is related to congenital disorder of glycosylation, type ia and skeletal dysplasias. An important gene associated with Pepck 2 Deficiency is PCK2 (phosphoenolpyruvate carboxykinase 2 (mitochondrial)).

Related Diseases for Pepck 2 Deficiency

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Graphical network of the top 20 diseases related to Pepck 2 Deficiency:



Diseases related to pepck 2 deficiency

Symptoms for Pepck 2 Deficiency

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Drugs & Therapeutics for Pepck 2 Deficiency

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Drug clinical trials:

Search ClinicalTrials for Pepck 2 Deficiency

Search 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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Compounds for genes affiliated with Pepck 2 Deficiency

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GO Terms for genes affiliated with Pepck 2 Deficiency

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Products for genes affiliated with Pepck 2 Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pepck 2 Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet