Hermansky-Pudlak syndrome
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| Hermansky-Pudlak syndrome Classification and external resources |
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| ICD-10 | E70.3 (ILDS E70.360) |
|---|---|
| OMIM | 203300 |
| DiseasesDB | 29161 |
| eMedicine | oph/713 derm/925 |
| MeSH | D022861 |
Hermansky-Pudlak Syndrome (HPS) is an inherited disease 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).
Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS.
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[edit] Eponym
It is named for Frantisek Hermansky and P. Pudlak.[1][2]
[edit] Presentation
The disease can cause poor functioning of the lungs, intestine, kidneys or heart. The major complication of the disease is pulmonary fibrosis and typically causes death in patients ages 40 - 50 years old.
The disorder is common in Puerto Rico,[3] where many of the clinical research studies on the disease have been conducted.
[edit] Causes
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.[4]
[edit] References
- ^ synd/2220 at Who Named It
- ^ Hermansky F, Pudlak P (1959). "Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies". Blood 14 (2): 162–9. PMID 13618373.
- ^ Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, et al (January 2006). "Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico". J. Invest. Dermatol. 126 (1): 85–90. doi:. PMID 16417222.
- ^ Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT (2003). "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)". Nat. Genet. 35 (1): 84–9. doi:. PMID 12923531.
[edit] See also
[edit] Further reading
- Di Pietro SM, Dell'Angelica EC (2005). "The cell biology of Hermansky-Pudlak syndrome: recent advances". Traffic 6 (7): 525–33. doi:. PMID 15941404.
- Scheinfeld NS (2003). "Syndromic albinism: a review of genetics and phenotypes". Dermatol Online J 9 (5): 5. PMID 14996378.
- Huizing M, Gahl WA (2002). "Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes". Curr Mol Med 2 (5): 451–67. doi:. PMID 12125811.
- Huizing M, Anikster Y, Gahl WA (2000). "Hermansky-Pudlak syndrome and related disorders of organelle formation". Traffic 1 (11): 823–35. doi:. PMID 11208073.
[edit] External links
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