Hermansky-Pudlak Syndrome: HPS3 Related

Hermansky-Pudlak syndrome (HPS) is an inherited disorder that affects melanin production, blood clotting, and functions of some organs. Affected individuals typically have little or no pigment in their eyes, skins, or hair. They have poor vision, eye abnormalities, and bleeding problems. The severity of bleeding problems varies and the course is unpredictable. Some individuals have problems with the lung, intestine, kidney or heart. Progressive lung disease usually starts in the early thirties and can be fatal. Intellect is not affected by HPS. There is no cure for HPS; however medical surveillance and care may help to improve some symptoms and overall condition of life. HPS is caused by pathogenic variants in the HPS3 gene.

HPS is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.

There are generally no signs or symptoms associated with being a carrier for HPS. However, the risk to have a child affected with HPS is increased. Testing of reproductive partners is recommended for carriers of HPS.

Hermansky-Pudlak syndrome is estimated to affect 1 in 500,000 to 1 in 1,000,000 newborns worldwide. Type 3 occurs more often in families from central Puerto Rico, but the exact occurrence is unknown.

Genetic Home Reference: Hermansky-Pudlak syndrome (http://ghr.nlm.nih.gov/)
Genetic Alliance: Hermansky-Pudlak syndrome 3 (http://www.diseaseinfosearch.org/)

OMIM [HPS3: 614072] (http://www.ncbi.nlm.nih.gov/omim)
Gene Reviews: Hermansky-Pudlak syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1116/)

• Full gene sequencing