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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Glycogen storage disease due to phosphoglucomutase deficiency

APP PGM1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
PGM1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Glycogen storage disease due to phosphoglucomutase deficiency
PGM1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Glycogen storage disease due to phosphoglucomutase deficiency

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- GSD due to phosphoglucomutase deficiency
- GSD type 14
- GSDXIV
- Glycogen storage disease type 14
- Glycogenosis due to phosphoglucomutase deficiency
- Glycogenosis type 14
- Phosphoglucomutase 1 deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
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



Glycogen storage disease due to phosphoglucomutase deficiency

(no data available)