Renal Hypodysplasia/Aplasia 1

Alternative Names

  • RHDA1
  • Renal Adysplasia
  • Renal Agenesis
  • Renal Aplasia
  • Hereditary Renal Aplasia
  • HRA
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

OMIM Number

191830

Mode of Inheritance

Autosomal recessive Autosomal dominant

Gene Map Locus

10p13, 10q11.21

Description

Renal hypodysplasia/aplasia belongs to a group of genetically heterogeneous perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
191830.1LebanonMale Renal hypoplasia/aplasiaNM_020975.6:c.2735G>A, NM_138694.4:c.5086T>GHeterozygousAutosomal, DominantNair et al. 2018 One kidney missing
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