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Primary hyperoxaluria (PH) runs in families
You probably know that your eye color and hair color are inherited from your parents, but genetic disorders like PH are passed down through generations, too.
That’s why, if you have blood relatives who have PH, you should consult with your physician to discuss whether you should be tested—even if you don’t have any symptoms of PH. If you have PH, oxalate can build up and cause damage to your kidneys; damage can start before you have warning signs. If you learn that you have PH, you can take steps to help limit the damage.
Genetic testing is used to identify whether or not someone has PH, and if so, which of the 3 known subtypes: PH1, PH2, or PH3. It is also used to identify genetic carriers of PH.
NovoDETECT™ can help provide answers you need
NovoDETECT™ is a no-charge diagnostic testing and genetic counseling service that could help guide you and your healthcare provider in making health decisions.
How is PH passed on from one generation to the next?
Primary hyperoxaluria is an autosomal recessive genetic disorder. A genetic disorder is one that is hereditary, or passed on from your parents via genes. Recessive means that in order to have this disorder, a person needs to inherit 2 copies of a mutated gene that causes PH—1 copy from each parent. Individuals who inherit only 1 copy of the mutated gene are carriers for PH.
Although carriers may not show signs or symptoms of the disease, they can still pass on the mutated copy of the gene to their children.
Take a closer look at how PH is inherited
When someone has PH or is a carrier for it, it’s possible that they will pass on the mutated gene that causes PH to some, all, or none of their children.
It is important to remember that both parents must have the same type of PH (PH1, PH2, or PH3) or be carriers for the same type of PH in order for a child of theirs to be affected by PH.
Use the tabs and drop-down options below to explore how the PH status of each parent influences the likelihood that their children might be affected.
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50% chance that a child will be a PH carrier
50% chance that a child will be unaffected
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25% chance that a child will have PH
50% chance that a child will be a PH carrier
25% chance that a child will be unaffected
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50% chance that a child will have PH
50% chance that a child will be a PH carrier
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100% of children will be PH carriers
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50% chance that a child will have PH
50% chance that a child will be a PH carrier
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100% of children will have PH
Are you affected by PH and thinking about family planning?
Your partner only needs a simple genetic test to help assess the risk of passing PH on to your children. Keep in mind that PH is very rare, so the chance of your partner having PH, especially the same type of PH that you have, is pretty low.
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Want more information or resources for understanding PH?
We’ve compiled a list of organizations that may help.
