MCID: PPC002
MIFTS: 17

Pepck 2 Deficiency malady

Rare diseases, Metabolic diseases categories

Aliases & Classifications for Pepck 2 Deficiency

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Sources:
61UMLS, 42NIH Rare Diseases, 21Genetics Home Reference, 48Orphanet, 44Novoseek, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Pepck 2 Deficiency:

Name: Pepck 2 Deficiency 42
Phosphoenolpyruvate Carboxykinase 2 Deficiency 42 48 61
Congenital Disorder of Glycosylation Type Ia 42 21
Congenital Disorder of Glycosylation Type 1a 42 61
Phosphomannomutase 2 Deficiency 42 21
Cdg Ia 21 44
Cdg1a 42 21
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 61
Carbohydrate-Deficient Glycoprotein Syndrome Type Ia 21
 
Carbohydrate Deficient Glycoprotein Syndrome Type Ia 42
Cdg Syndrome Type Ia 42
Pepck2 Deficiency 48
Pck2 Deficiency 42
Jaeken Syndrome 21
Pmm Deficiency 21
Cdgs1a 21
Pepck2 42
Cdg-Ia 42


Classifications:



External Ids:

Orphanet48 79317
MESH via Orphanet34 C536655
ICD10 via Orphanet26 E74.4
UMLS via Orphanet62 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:

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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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Sources for Pepck 2 Deficiency

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet