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Phosphoenolpyruvate carboxykinase 2 deficiency
1 OMIM reference -
1 associated gene
11 connected diseases
No signs/symptoms info
Disease Type of connection
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Estrogen resistance syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- PEPCK2 deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C536655
Gene symbol UniProt reference OMIM reference
PCK2 Q16822614095
No signs/symptoms info available.