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Haddad syndrome

1 OMIM reference -
3 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

Pitt-Hopkins syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

Haddad syndrome

Pitt-Hopkins syndrome

ASCL1	(UniProt - OMIM)		TCF4	(UniProt - OMIM)
PHOX2B	(UniProt - OMIM)
RET	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ASCL1	(0.78)	TCF4

Citations in the biomedical literature:

Haddad syndrome		Pitt-Hopkins syndrome
	Synonym(s): - Congenital central alveolar hypoventilation - Hirschsprung disease - Ondine-Hirschsprung disease - Ondine-Hirschsprung syndrome		Synonym(s): (no synonyms)

	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): - 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: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537403


COMMON SIGNS	- Apnea / sleep apnea - Autosomal dominant inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Respiratory rhythm disorder - Seizures / epilepsy / absences / spasms / status epilepticus

Haddad syndrome		Pitt-Hopkins syndrome
	Very frequent - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Dysautonomia / autonomous nervous sytem anomalies - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Short stature / dwarfism / nanism - Strabismus / squint Frequent - Death in infancy Occasional - Fetal immobility / abnormal fetal movements - Neuroblastoma - Oligoamnios - Polyhydramnios - Sensorineural deafness / hearing loss		Very frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anteverted nares / nostrils - Ataxia / incoordination / trouble of the equilibrium - Constipation - Deepset eyes / enophthalmos - Helix thickened / sculpted - Macrostomia / big mouth - Microcephaly - Palate anomalies - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Thick lips Frequent - Myopia - Tapered fingers - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Irregular / patchy skin hypopigmentation - Micropenis / small penis / agenesis