Cytoscape Web
Click node...


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

ASCL1 APP
BDNF
EDN3
GDNF
PHOX2B


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


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



Ondine syndrome
Hereditary cerebral hemorrhage with amyloidosis, Italian type

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

Synonym(s):
- HCHWA, Italian type

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

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

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

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


COMMON
SIGNS
- Seizures / epilepsy / absences / spasms / status epilepticus


Ondine syndrome
Hereditary cerebral hemorrhage with amyloidosis, Italian type

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


Very frequent
- Autosomal dominant inheritance
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Transient cerebral ischemia / stroke

Frequent
- Obnubilation / coma / lethargia / desorientation
- Psychic / psychomotor regression / dementia / intellectual decline