Polycystic kidney disease
At a minimum, these SNPs are known to be related, and others may also be
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.
- rs28939383, now merged into rs137852944; OMIM 606702.0001; risk allele A; Thr36Met; the most common missense mutation
- rs28937907; OMIM 606702.0002
- rs28939099; OMIM 606702.0004
Other PKHD1 mutations found in more than one family include (with their 23andMe i-SNP identifiers when known):
- rs369925690; c.664A>G (p.Ile222Val); i5000047
- rs199531851; c.2414C>T (p.Pro805Leu); i5000044 and i6016699
- rs200179145; c.6992T>A (p.Ile2331Lys); i6016629
- rs760222236; c.8870T>C (p.Ile2957Thr); i5000045 and i6016633
- rs200511261; c.9530T>C (p.Ile3177Thr); i5000043 and i6016654
- rs201082169; c.10174C>T (p.Gln3392X); i5000046 and i6016608
- rs746838237; c.5895dupA (p.Leu1966fs); i5012609 most likely
- rs398124502; c. 9689del A. (p.Asp3230fs); i5012610 most likely
- rs398124484; c.3761_3762del insG, (p.Ala1254fs)
- rs137852949; i5012612; more common in Finnish populations
There are also some PKHD1 SNPs considered benign, i.e. not associated or causing PKHD1-based disorders, including: