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1 OMIM reference -
3 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Haddad syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

ASCL1 IKBKG
PHOX2B
RET


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RET
(0.68)
IKBKG



Citations in the biomedical literature:


Haddad syndrome
ASCL1 PHOX2B RET
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
IKBKG



Haddad syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

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

Synonym(s):
- OL-EDA-ID

Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease

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

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive

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

Haddad syndrome

Very frequent
- Apnea / sleep apnea
- Autosomal dominant inheritance
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Dysautonomia / autonomous nervous sytem anomalies
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Respiratory rhythm disorder
- Short stature / dwarfism / nanism
- Strabismus / squint

Frequent
- Death in infancy
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus

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


Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

(no data available)