ODCs

Cytoscape Web

Click node...

Bilateral renal agenesis

1 OMIM reference -
3 associated genes
18 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 1

Haddad syndrome

1 OMIM reference -
3 associated genes
19 signs/symptoms

Bilateral renal agenesis

Haddad syndrome

ITGA8	(UniProt - OMIM)		ASCL1	(UniProt - OMIM)
RET	(UniProt - OMIM)		PHOX2B	(UniProt - OMIM)
UPK3A	(UniProt - OMIM)		RET	(UniProt - OMIM)


COMMON GENES	RET

Citations in the biomedical literature:

Bilateral renal agenesis		Haddad syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Congenital central alveolar hypoventilation - Hirschsprung disease - Ondine-Hirschsprung disease - Ondine-Hirschsprung syndrome

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 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 - 1 MeSH reference: C536482		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Oligoamnios

Bilateral renal agenesis		Haddad syndrome
	Very frequent - Agenesis / hypoplasia / aplasia of kidneys - Epicanthic folds - Hypertelorism - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears - Short columella / depressed nasal tip - Stillbirth / neonatal death Frequent - Congenital cardiac anomaly / malformation / cardiopathy - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / colonic anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Sacro-coccyx / sacrum anomaly - Tracheo-esophageal fistula / esophageal atresia / stenosis Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Sirenomelia / mermaid / lower limb fusion - Uterine / uterus / Fallopian tubes anomalies		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 - Polyhydramnios - Sensorineural deafness / hearing loss