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Phosphoenolpyruvate carboxykinase 2 deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
1 OMIM reference -
1 associated gene
3 signs/symptoms
Phosphoenolpyruvate carboxykinase 2 deficiency
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

PCK2
(UniProt - OMIM)
 APP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PCK2
(0.56)
APP


Citations in the biomedical literature:


Phosphoenolpyruvate carboxykinase 2 deficiency
PCK2
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP



Phosphoenolpyruvate carboxykinase 2 deficiency
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Synonym(s):
- PEPCK2 deficiency
Synonym(s):
- HCHWA, Arctic type
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C536655
External references:
1 OMIM reference -
No MeSH references
Hereditary cerebral hemorrhage with amyloidosis, Arctic type

Very frequent
- Autosomal dominant inheritance
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Phosphoenolpyruvate carboxykinase 2 deficiency

(no data available)