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Ondine syndrome

1 OMIM reference -
5 associated genes
7 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

5q14.3 microdeletion syndrome

1 OMIM reference -
1 associated gene
25 signs/symptoms

Ondine syndrome

5q14.3 microdeletion syndrome

ASCL1	(UniProt - OMIM)		MEF2C	(UniProt - OMIM)
BDNF	(UniProt - OMIM)
EDN3	(UniProt - OMIM)
GDNF	(UniProt - OMIM)
PHOX2B	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ASCL1	(0.63)	MEF2C

Citations in the biomedical literature:

Ondine syndrome		5q14.3 microdeletion syndrome
	Synonym(s): - CCHS - Central congenital hypoventilation syndrome - Congenital central alveolar hypoventilation syndrome - Ondine curse		Synonym(s): - Del(5)(q14.3) - Monosomy 5q14.3

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

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


COMMON SIGNS	- Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus

Ondine syndrome		5q14.3 microdeletion 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		Very frequent - Autism / autistic disoders - Broad forehead - High forehead - Insterstitial / subtelomeric microdeletion / deletion - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly - Short philtrum - Short / small nose - Structural anomalies of the nervous system - Tics / stereotypias - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Occasional - Anteverted nares / nostrils - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Deepset eyes / enophthalmos - Failure to thrive / difficulties for feeding in infancy / growth delay - Mouth held open - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Strabismus / squint - Syndactyly of toes - Thick / bushy eyebrows