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1 OMIM reference -
1 associated gene
3 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
7 signs/symptoms
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ondine syndrome

APP ASCL1
BDNF
EDN3
GDNF
PHOX2B


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Hereditary cerebral hemorrhage with amyloidosis, Arctic type
APP
Ondine syndrome
ASCL1 BDNF EDN3 GDNF PHOX2B



Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ondine syndrome

Synonym(s):
- HCHWA, Arctic type

Synonym(s):
- CCHS
- Central congenital hypoventilation syndrome
- Congenital central alveolar hypoventilation syndrome
- Ondine curse

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Ondine syndrome

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



Very frequent
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Frequent
- Stillbirth / neonatal death

Occasional
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus