Hermansky–Pudlak syndrome
| Hermansky–Pudlak syndrome | |
|---|---|
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 |
E70.3 (ILDS E70.360) |
| ICD-9-CM | 270.2 |
| OMIM | 203300 |
| DiseasesDB | 29161 |
| eMedicine | oph/713 derm/925 |
| MeSH | D022861 |
| GeneReviews | |
| Orphanet | 79430 |
Hermansky–Pudlak syndrome (HPS) is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).
It is considered to affect around 1 in 500,000 people worldwide, with a significantly higher occurrence in Puerto Ricans, with a prevalence of 1 in 1800. Many of the clinical research studies on the disease have been conducted in Puerto Rico.
There are eight classic forms of the disorder, based on the genetic mutation from which the disorder stems. A ninth type has also been described. This last type is due to a mutation in the gene Pallidin (PLDN).
There are three main disorders caused by Hermansky–Pudlak syndrome, which result in these symptoms:
It also associated with Pulmonary Fibrosis, a fatal lung disease
HPS can be caused by mutations in several genes: HPS1, HPS3, HPS4, HPS5, HPS6 and HPS7.
HPS type 2, which includes immunodeficiency in its phenotype, is caused by mutation in the AP3B1 gene.
HPS type 7 may result from a mutation in the gene coding for dysbindin protein.
Hermansky–Pudlak syndrome is thought to be inherited as an autosomal recessive genetic trait. The defective gene, called HSP, responsible for this disorder is located on the long arm of chromosome 10 (10q2). Some research suggests that an abnormality of lysosomal function may be responsible for the development of the disease. HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1 and BLOC1S3 are associated with Hermansky–Pudlak syndrome.
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