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Renal agenesis

Congenital Malformations and Chromosomal Abnormalities

Renal agenesis is a medical condition in which one (unilateral) or both (bilateral) fetal kidneys fail to develop, so it is described by whether it affects one side or both. Unilateral and bilateral renal agenesis in humans, mice and zebra fish has been linked to mutations in the gene GREB1L. It has also been associated with mutations in the gene RET in humans and in the gene UPK3A in mice. The source lead therefore presents it as a developmental failure of the kidneys with identified genetic associations across more than one species.

Facts
Classification
Body System
Urinary System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 3
Causative Agent
Causative Agent (category)
Genetic / Hereditary 1
Prevalence Band
Rare (Under 1 in 2000) 4
Sources
1. Renal agenesis (Wikipedia)
  • Lead, first sentence
    one (unilateral) or both (bilateral) fetal kidneys fail to develop
  • Lead, second paragraph
    has been linked to mutations in the gene GREB1L
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2. World Health Organization: ICD-10 Version:2019 - Q60
World Health OrganizationICD-10 2019 category Q60
Quote, ICD-10 2019 category Q60
Q60 Renal agenesis and other reduction defects of kidney
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3. National Cancer Institute (NCI Thesaurus): Renal agenesis - NCI Thesaurus concept C99041
National Cancer Institute (NCI Thesaurus)Definition
Quote, Definition
A congenital abnormality characterized by the absence of one or both kidneys.
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4. Orphadata (Orphanet): Orphadata: Epidemiology of rare diseases (en_product9_prev)
Orphadata (Orphanet)ORPHA:411709
Quote, ORPHA:411709
Prevalence at birth Class only 1-5 / 10 000
View the Source
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