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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
5 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
3-hydroxy-3-methylglutaryl-CoA synthase deficiency

APP HMGCS2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
HMGCS2



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
HMGCS2



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- HMG-CoA synthase 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
3-hydroxy-3-methylglutaryl-CoA synthase deficiency

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



Very frequent
- Hypoglycemia
- Metabolic anomalies
- Organic acid metabolism anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus
- Storage liver disease