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Hermansky-Pudlak disease

Hermansky-Pudlak syndrome

 

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes.

Synopsis

-  ocular anomalies

-  epistaxis
-  gingival bleeding
-  cardiomyopathy
-  interstitial pulmonary fibrosis (restrictive lung disease)

-  granulomatous colitis (inflammatory bowel disease)

-  renal failure

-  cutaneous anomalies

-  coagulation anomalies

-  pigmented reticuloendothelial cells

Etiology

Hermansky-Pudlak syndrome is a disorder of abnormal biogenesis of lysosomes and related organelles. Six genes are now identified causing HPS in humans (HPS-1 to HPS-6). Some HPS-gene products are part of distinct protein complexes: the adaptor complex AP-3, and six different BLOCs (Biogenesis of Lysosome-related Organelles Complex).

-  HPS1 (MIM.604982) at 10q23.1
-  HPS2: AP3B1 (MIM.603401) at Chr.5
-  HPS3 (MIM.606118) at 3q24
-  HPS4 (MIM.606682) at Chr.22
-  HPS5 (MIM.607521) at 11p15-p13
-  HPS6 (MIM.607522) at 10q24.32
-  HPS7: DTNBP1 (MIM.607145) at 6p22.3

HPS to extensively characterize each subtype. Clinically, all patients show oculocutaneous albinism and storage pool deficiency. HPS-1 and HPS-4 also exhibit occasional granulomatous colitis and fatal pulmonary fibrosis. HPS-2 patients show persistent neutropenia and childhood infections. HPS-3, and perhaps HPS-5 and HPS-6 patients have a milder form of the disease with occasional granulomatous colitis.

References

-  Anderson PD, Huizing M, Claassen DA, White J, Gahl WA. Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. Hum Genet. 2003 Jul;113(1):10-7. Epub 2003 Mar 27. PMID: #12664304#

-  Griffiths GM. Albinism and immunity: what's the link? Curr Mol Med. 2002 Aug;2(5):479-83. PMID: #12125813#

-  Huizing M, Gahl WA. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Curr Mol Med. 2002 Aug;2(5):451-67. PMID: #12125811#


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