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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
5 associated genes
7 signs/symptoms
Estrogen resistance syndrome
Ondine syndrome

ESR1 ASCL1
BDNF
EDN3
GDNF
PHOX2B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ESR1
(0.52)
BDNF



Citations in the biomedical literature:


Estrogen resistance syndrome
ESR1
Ondine syndrome
ASCL1 BDNF EDN3 GDNF PHOX2B



Estrogen resistance syndrome
Ondine syndrome

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
(no data available)
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

Ondine syndrome

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


Estrogen resistance syndrome

(no data available)