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Bilateral renal agenesis

1 OMIM reference -
3 associated genes
18 signs/symptoms

COMMON GENES: 1

Multiple endocrine neoplasia type 2B

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

Bilateral renal agenesis

Multiple endocrine neoplasia type 2B

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


COMMON GENES	RET

Citations in the biomedical literature:

Bilateral renal agenesis		Multiple endocrine neoplasia type 2B
	Synonym(s): (no synonyms)		Synonym(s): - MEN2B - Multiple endocrine neoplasia type 3 - Wagenmann-Froboese syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare endocrine disease - Rare gastroenterologic disease - Rare genetic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	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: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536482		External references: 1 OMIM reference - 1 MeSH reference: D018814

Bilateral renal agenesis
	Very frequent - Agenesis / hypoplasia / aplasia of kidneys - Epicanthic folds - Hypertelorism - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Low set ears / posteriorly rotated ears - Oligoamnios - 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
Multiple endocrine neoplasia type 2B
(no data available)