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Hereditary renal agenesis MeSH Supplementary Concept Data 2024


MeSH Supplementary
Hereditary renal agenesis
Unique ID
C536482
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536482
Entry Term(s)
Bilateral renal agenesis
Potter Syndrome
Renal agenesis
Urogenital adysplasia, hereditary
Registry Number
0
Heading Mapped to
*Congenital Abnormalities
Kidney / *abnormalities
Kidney Diseases / *congenital
Frequency
314
Note
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).
Date of Entry
2010/08/25
Revision Date
2015/08/18
Hereditary renal agenesis Preferred
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