Hermansky-Pudlak syndrome: Difference between revisions

	Hermansky-Pudlak syndrome;
ICD-10	E70.3
OMIM	203300
DiseasesDB	29161
eMedicine	oph/713 derm/925
MeSH	D022861

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

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Overview

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).

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, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS.

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.^[1]

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hermansky-Pudlak syndrome from Other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Natural History

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

Additional Resources

Di Pietro SM, Dell'Angelica EC (2005). "The cell biology of Hermansky-Pudlak syndrome: recent advances". Traffic. 6 (7): 525–33. 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. PMID 12125811.
Huizing M, Anikster Y, Gahl WA (2000). "Hermansky-Pudlak syndrome and related disorders of organelle formation". Traffic. 1 (11): 823–35. PMID 11208073.
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.

External links

References

↑ 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:10.1038/ng1229. PMID 12923531.

Template:Hematology [[de:Hermansky-Pudlak-Syndrom]

Template:WS Template:WH

[pmid12923531-1] 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:10.1038/ng1229. PMID 12923531.

[1]

@@ Line 1: / Line 1: @@
+__NOTOC__
+{{SI}}
+{{CMG}}; {{AE}}
+{{PleaseHelp}}
 {{Infobox_Disease |
    Name           = {{PAGENAME}} |
@@ Line 15: / Line 21: @@
 }}
-{{SI}}
+==Overview==
+'''Hermansky-Pudlak Syndrome''' ('''HPS''') is an inherited disease which results in [[Albinism|oculocutaneous albinism]] (decreased [[pigmentation]]), bleeding problems due to a [[platelet]] abnormality ([[platelet storage pool defect]]), and storage of an abnormal fat-protein compound ([[lysosome|lysosomal]] accumulation of ceroid lipofuscin).
+The disease can cause poor functioning of the [[lung]]s, [[intestine]], [[kidney]]s 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, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS.
+HPS can be caused by [[mutation]]s in several [[gene]]s: [[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.<!--
+--><ref name="pmid12923531">{{cite journal |author=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 |title=Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) |journal=Nat. Genet. |volume=35 |issue=1 |pages=84–9 |year=2003 |pmid=12923531 |doi=10.1038/ng1229}}</ref>
+==Historical Perspective==
+==Classification==
+==Pathophysiology==
+==Causes==
+==Differentiating {{PAGENAME}} from Other Diseases==
+==Epidemiology and Demographics==
+==Risk Factors==
+==Screening==
+==Natural History, Complications, and Prognosis==
+===Natural History===
+==Diagnosis==
+===Diagnostic Criteria===
+===History and Symptoms===
+===Physical Examination===
-{{EH}}
+===Laboratory Findings===
-{{CMG}}
+===Imaging Findings===
-==Overview==
+===Other Diagnostic Studies===
-'''Hermansky-Pudlak Syndrome''' ('''HPS''') is an inherited disease which results in [[Albinism|oculocutaneous albinism]] (decreased [[pigmentation]]), bleeding problems due to a [[platelet]] abnormality ([[platelet storage pool defect]]), and storage of an abnormal fat-protein compound ([[lysosome|lysosomal]] accumulation of [[ceroid lipofuscin]]).
-The disease can cause poor functioning of the [[lung]]s, [[intestine]], [[kidney]]s 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, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS.
+==Treatment==
+===Medical Therapy===
-HPS can be caused by [[mutation]]s in several [[gene]]s: [[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.<!--
+===Surgery===
---><ref name="pmid12923531">{{cite journal |author=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 |title=Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) |journal=Nat. Genet. |volume=35 |issue=1 |pages=84–9 |year=2003 |pmid=12923531 |doi=10.1038/ng1229}}</ref>
+===Prevention===
-==References==
+==Additional Resources==
-{{Reflist|2}}
+{{refbegin|2}}
 * {{cite journal | author=Di Pietro SM, Dell'Angelica EC | title=The cell biology of Hermansky-Pudlak syndrome: recent advances | journal=Traffic | year=2005 | pages=525-33 | volume=6 | issue=7  | id=PMID 15941404}}
 * {{cite journal | author=Scheinfeld NS | title=Syndromic albinism: a review of genetics and phenotypes | journal=Dermatol Online J | year=2003 | pages=5 | volume=9 | issue=5  | id=PMID 14996378}}
@@ Line 37: / Line 76: @@
 * {{cite journal | author=Huizing M, Anikster Y, Gahl WA | title=Hermansky-Pudlak syndrome and related disorders of organelle formation | journal=Traffic | year=2000 | pages=823-35 | volume=1 | issue=11  | id=PMID 11208073}}
 * {{cite journal | author=Hermansky F, Pudlak P | title=Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies | journal=Blood | year=1959 | pages=162-9 | volume=14 | issue=2  | id=PMID 13618373}}
+{{refend}}
-<div class="references-small"><references/></div>
 ==External links==
@@ Line 44: / Line 82: @@
 * {{WhoNamedIt|synd|2220}}
-[[Category:Albinism]]
+==References==
-[[Category:Diseases]]
+{{Reflist|2}}
+{{Hematology}}
+[[Category:Endocrinology]]
+[[Category:Disease]]
 [[fr:Syndrome de Hermansky-Pudlak]]
-[[de:Hermansky-Pudlak-Syndrom]]
+[[de:Hermansky-Pudlak-Syndrom]
-{{disease-stub}}
+{{WS}}
-{{genetics-stub}}
+{{WH}}
-{{WikiDoc Sources}}

Hermansky-Pudlak syndrome
ICD-10	E70.3
OMIM	203300
DiseasesDB	29161
eMedicine	oph/713 derm/925
MeSH	D022861