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Polycystic kidney disease

From SNPedia

Polycystic kidney disease (PKD) is a common inherited disorder. About 600,000 people in the United States have a type of PKD.

There are two forms of PKD: autosomal dominant PKD (ADPKD) and autosomal recessive (ARPKD). ADPKD is far more common than ARPKD.

The autosomal dominant form of PKD generally begins to cause health problems by the time a carrier is 60 years old. Hypertension is a common early symptom (but there are many other causes of hypertension). Certain mutations in the PKD1 and PKD2 genes are associated with autosomal dominant polycystic kidney disease (ADPKD).

Autosomal recessive polycystic kidney disease (ARPKD) is much less common, and is normally caused by inheriting two mutations in the PKHD1 gene. Around 1 in 20,000 newborns are born with ARPKD, and about half die soon after birth.

Other PKHD1 mutations found in more than one family include (with their 23andMe i-SNP identifiers when known):

There are also some PKHD1 SNPs considered benign, i.e. not associated or causing PKHD1-based disorders, including: