Pepck 2 Deficiency malady
Rare diseases, Metabolic diseases categories
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)).
Pepck 2 Deficiency, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Metabolic diseases
Inborn errors of metabolism
Search GEO for disease gene expression data for Pepck 2 Deficiency.
26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet