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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
9 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Triose phosphate-isomerase deficiency

APP TPI1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
APP
(0.56)
TPI1



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Triose phosphate-isomerase deficiency
TPI1



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Triose phosphate-isomerase deficiency

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
(no synonyms)

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

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
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
Triose phosphate-isomerase deficiency

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



Very frequent
- Autosomal recessive inheritance
- Functional anomalies of the nervous system
- Hypotonia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy

Frequent
- Diaphragmatic hernia / defect / agenesis
- Stillbirth / neonatal death

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Nerve conduction abnormality