NLM Logo

Renal Adysplasia MeSH Supplementary Concept Data 2024


MeSH Supplementary
Renal Adysplasia
Unique ID
C563261
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C563261
Entry Term(s)
Hereditary Renal Aplasia
RHDA1
Renal Aplasia
Renal Hypodysplasia-aplasia 1
Registry Number
0
Heading Mapped to
Kidney / *abnormalities
*Urogenital Abnormalities
Frequency
375
Note
A group of hereditary autosomal recessive perinatally lethal renal diseases that include bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia is the most severe congenital anomaly of the kidney and urinary tract (CAKUT) (OMIM: 610805), and usually results in death in utero or in the perinatal period. Families may exhibit more than one condition, suggesting that there is a pathogenic continuum or phenotypic spectrum. Mutations in the ITGA8 gene have been identified. OMIM: 191830
Date of Entry
2012/11/05
Revision Date
2015/11/10
Renal Adysplasia Preferred
page delivered in 0.007s