ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
3 associated genes
19 signs/symptoms

X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

Haddad syndrome


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

Citations in the biomedical literature:

X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency		Haddad syndrome
	Synonym(s): - X-linked MSMD due to IKBKG deficiency - X-linked MSMD due to NEMO deficiency - X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency		Synonym(s): - Congenital central alveolar hypoventilation - Hirschsprung disease - Ondine-Hirschsprung disease - Ondine-Hirschsprung syndrome

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		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 - 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
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
(no data available)