Another form of albinism is also known as Hermansky-Pudlak Syndrome (HPS) by GeneCards.
According to the BMJ article, HPS is common in Puerto Rico and the Swiss Alps. The report also indicates the collection of the HPS group was detected on Turkish/Kurdish border and from Pakistan.
Hermansky-pudlak syndrome 1:
- Also called as Hermansky-Pudlak Syndrome.
- Rare an autosomal recessive inheritance.
- Difficulties in vision.
- Difficulties in blood clotting which means when the person bleeds, it is hard for the blood to clot quickly.
- HPS1 gene is located on chromosome 10q24.
Hermansky-Pudlak syndrome 4:
- Hermansky-Pudlak syndrome 4 is also identified as oculocutaneous albinism.
- Gene is located at 22q12.1.
The phenotype associated with HPS4 gene is (1) childhood cancer, (2) breast carcinoma, (3) difficulties in understanding specific language, (4) Ischemic stroke ( the flow of blood vessels is cut off to the brain) by GeneCards.org
HPS1 – Two frameshift variants (c.9delC and c.1477delA).
HPS4 – one nonsense (c.416G > A).
One missense variant in TYR (c.1235C > T)