ODCs

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1 OMIM reference -
5 associated genes
7 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Ondine syndrome

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ASCL1	(0.73)	EP300

Citations in the biomedical literature:

Ondine syndrome		Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
	Synonym(s): - CCHS - Central congenital hypoventilation syndrome - Congenital central alveolar hypoventilation syndrome - Ondine curse		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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

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
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)