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Bilateral renal agenesis
1 OMIM reference -
3 associated genes
24 connected diseases
18 signs/symptoms
Disease Type of connection
Hirschsprung disease
Bilateral renal dysplasia
Familial medullary thyroid carcinoma
Haddad syndrome
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Papillary or follicular thyroid carcinoma
Unilateral renal dysplasia
Juvenile myelomonocytic leukemia
Noonan syndrome
Autosomal dominant hyper-IgE syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Hereditary gingival fibromatosis
Autosomal agammaglobulinemia
SHORT syndrome
Distal 22q11.2 microdeletion syndrome
Fibronectin glomerulopathy
LEOPARD syndrome
Metachondromatosis
Ondine syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536482
Gene symbol UniProt reference OMIM reference
ITGA8 P53708604063
RET P07949164761
UPK3A O75631611559
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