Polycystic Kidney Disease 9, Susceptibility To

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

OMIM Number

621164

Mode of Inheritance

Autosomal dominant

Gene Map Locus

16p13.3

Description

Susceptibility to polycystic kidney disease-9 (PKD9) is characterized by onset of a relatively mild form of slowly progressive renal disease in adulthood (range thirties to eighties). Affected individuals typically have large uni- or bilateral renal cysts, asymmetric kidney size, and limited renal insufficiency (decreased GFR). Some individuals may have liver cysts on imaging. Most older individuals have hypertension. End-stage kidney disease is rare. The transmission of the disorder in families shows incomplete penetrance, age-dependent penetrance, and variable expressivity. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
621164.G.1KuwaitYes Polycystic kidney dysplasiaNM_014714.4:c.1525-1G>AHeterozygousAutosomal, DominantAli et al. 2023 Family with unknown ...
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