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1 OMIM reference -
3 associated genes
19 signs/symptoms
COMMON GENES: 2
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
1 OMIM reference -
5 associated genes
7 signs/symptoms
Haddad syndrome
Ondine syndrome

ASCL1 ASCL1
PHOX2B BDNF
RET EDN3
GDNF
PHOX2B


COMMON
GENES
ASCL1
PHOX2B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RET
(0.52)
GDNF



Citations in the biomedical literature:


Haddad syndrome
ASCL1 PHOX2B RET
Ondine syndrome
BDNF EDN3 GDNF



Haddad syndrome
Ondine syndrome

Synonym(s):
- Congenital central alveolar hypoventilation - Hirschsprung disease
- Ondine-Hirschsprung disease
- Ondine-Hirschsprung syndrome

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

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
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


COMMON
SIGNS
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Seizures / epilepsy / absences / spasms / status epilepticus


Haddad syndrome
Ondine syndrome

Very frequent
- Apnea / sleep apnea
- Autosomal dominant inheritance
- Dysautonomia / autonomous nervous sytem anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Respiratory rhythm disorder
- Short stature / dwarfism / nanism
- Strabismus / squint

Frequent
- Death in infancy
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia

Occasional
- Fetal immobility / abnormal fetal movements
- Neuroblastoma
- Oligoamnios
- Polyhydramnios
- Sensorineural deafness / hearing loss


Frequent
- Stillbirth / neonatal death

Occasional
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer