Hereditary renal agenesis

A group of perinatally lethal renal diseases that include bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Germline mutations in the ITGA8 and RET genes have been identified (OMIM: 191830). Renal aplasia is the most severe congenital anomaly of the kidney and urinary tract and is caused by a heterozygous DSTYK mutation (OMIM: 610805).

Also Known As:

Bilateral renal agenesis; Potter Syndrome; Renal agenesis; Urogenital adysplasia, hereditary

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Hereditary renal agenesis: 174
Urogenital System
- Urinary Tract
  - Kidney
    - Hereditary renal agenesis: 174
Urogenital Diseases: 129
- Urologic Diseases: 817
  - Kidney Diseases: 12764
    - Hereditary renal agenesis: 174
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 817
      - Kidney Diseases: 12764
        Hereditary renal agenesis: 174
- Male Urogenital Diseases
  - Urologic Diseases: 817
    - Kidney Diseases: 12764
      - Hereditary renal agenesis: 174

Nancy A Hueppchen Selected Research

Nancy A Hueppchen Research Topics

Disease

Therapy/Procedure