Have a symptom?
See what questions
a doctor would ask.
Diseases » Porphyria » Inheritance

Inheritance and Genetics of Porphyria

Genetics of Porphyria:

Porphyria is a genetic disease passed down through families (familial). Some porphyrias develop after inheriting a mutant gene from just one parent, while others form after inheriting a mutant copy from both parents.

Porphyria: Genetics Information

Genetics of Porphyria: Heme synthesis takes place in several steps, each of which requires a specific enzyme of which there are 8 in total. The genes that encode these enzymes are located on different chromosomes, and mutations of these genes can be inherited in either an autosomal dominant or autosomal recessive fashion, depending on the gene concerned. Affected individuals are unable to complete heme synthesis, and intermediate products, porphyrin or its precursors, accumulate. (Source: Genes and Disease by the National Center for Biotechnology)

About inheritance and genetics:

Inheritance of Porphyria refers to whether the condition is inherited from your parents or "runs" in families. The level of inheritance of a condition depends on how important genetics are to the disease. Strongly genetic diseases are usually inherited, partially genetic diseases are sometimes inherited, and non-genetic diseases are not inherited. For general information, see Introduction to Genetics.


By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise