HPS
MCID: HRM001
MIFTS: 57

Hermansky-Pudlak Syndrome (HPS) malady

Summaries for Hermansky-Pudlak Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Hermansky-pudlak syndrome is a multisystem, genetic condition characterized blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). long-term sun exposure greatly increases the risk of skin damage and skin cancers. some individuals have colitis, kidney failure, and pulmonary fibrosis. symptoms of pulmonary fibrosis usually appear during the early thirties and rapidly worsen. this condition is inherited in an autosomal recessive fashion.there are eight different types of hermansky-pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. types 1 and 4 are the most severe forms. types 1, 2, and 4 are the only types associated with pulmonary fibrosis. individuals with type 3, 5, or 6 have the mildest symptoms of all the types. little is known about the signs, symptoms, and severity of types 7 and 8. last updated: 9/29/2011

MalaCards: Hermansky-Pudlak Syndrome, also known as hermansky pudlak syndrome, is related to pulmonary fibrosis and albinism. An important gene associated with Hermansky-Pudlak Syndrome is HPS6 (Hermansky-Pudlak syndrome 6), and among its related pathways are Lysosome and Membrane Trafficking. The compounds dhica and kojic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and kidney, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Genetics Home Reference:21 Hermansky-Pudlak syndrome is characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Oculocutaneous albinism also causes vision problems such as reduced sharpness, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia). In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.

Description from OMIM:46 203300,608233

GeneReviews summary for hps

Aliases & Classifications for Hermansky-Pudlak Syndrome

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 34MeSH, 56SNOMED-CT, 39NCIt
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Aliases & Descriptions:

hermansky-pudlak syndrome 8 19 42 21 10 44
hermansky pudlak syndrome 42 20 22
hps 8 42 21
albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 42 60
delta storage pool disease 42
hermanski-pudlak syndrome 60
hantavirus infections 60


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Disease Ontology8 DOID:3753
MeSH34 D022861
NCIt39 C37261

Related Diseases for Hermansky-Pudlak Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Hermansky-Pudlak Syndrome 1 family:

hermansky-pudlak syndrome Hermansky Pudlak Syndrome 2
Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 4
Hermansky-Pudlak Syndrome 5 Hermansky-Pudlak Syndrome 6
Hermansky-Pudlak Syndrome 7 Hermansky-Pudlak Syndrome 8
Hermansky-Pudlak Syndrome 9

Diseases related to Hermansky-Pudlak Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 284)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary fibrosis31.2HPS3, HPS1, HPS4
2albinism31.2TYRP1, HPS1, TYR
3hermansky-pudlak syndrome 131.1HPS1
4oculocutaneous albinism31.0TYRP1, AP3B1, TYR
5platelet storage pool deficiency30.9HPS6, BLOC1S3, HPS1, HPS4, HPS5, HPS3
6hermansky-pudlak syndrome 630.8HPS6
7hermansky-pudlak syndrome 830.8BLOC1S3
8hermansky-pudlak syndrome 330.8HPS3
9chediak-higashi syndrome30.8TYR
10hermansky-pudlak syndrome 530.8HPS5
11oculocutaneous albinism type 130.3TYR
12schizophrenia30.3DTNBP1, TYR
13ocular albinism30.3TYR, TYRP1
14melanoma30.3AGFG1, TYR, TYRP1, CD63, HPS1
15hermansky pudlak syndrome 210.7
16pneumonia10.6
17hermansky-pudlak syndrome 710.6
18hermansky-pudlak syndrome 910.6
19isolated delta-storage pool disease10.6
20hermansky-pudlak syndrome 410.5
21diffuse pulmonary fibrosis10.5
22interstitial lung disease10.5
23crohn's disease10.4
24hemophagocytic lymphohistiocytosis10.4
25neuronitis10.4
26hantavirus pulmonary syndrome10.3
27neuronal ceroid-lipofuscinoses10.2
28crescentic glomerulonephritis10.2
29iga glomerulonephritis10.2
30pulmonary sarcoidosis10.2
31qualitative platelet defect10.2
32systemic lupus erythematosus10.2
33pulmonary alveolar proteinosis10.2
34good syndrome10.2
35bernard-soulier syndrome10.2
36gastroduodenitis10.2
37adult syndrome10.2
38chromosomal disease10.2
39compartment syndrome10.2
40dysostosis10.2
41glomerulonephritis10.2
42hypertension10.2
43intestinal disease10.2
44kidney disease10.2
45lung cancer10.2
46lupus erythematosus10.2
47night blindness10.2
48renal hypertension10.2
49retinitis10.2
50sarcoidosis10.2

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome:



Diseases related to hermansky-pudlak syndrome

Clinical Features for Hermansky-Pudlak Syndrome

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46OMIM
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Clinical features from OMIM:

203300,608233

Drugs & Therapeutics for Hermansky-Pudlak Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Hermansky-Pudlak Syndrome

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Search CenterWatch for Hermansky-Pudlak Syndrome

Genetic Tests for Hermansky-Pudlak Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Hermansky-Pudlak Syndrome:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome20 22 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome

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32MalaCards
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MalaCards organs/tissues related to Hermansky-Pudlak Syndrome:

32
Eye, Skin, Kidney, Retina, Lung, Testes, Monocytes, Bone marrow, Bone, T cells

Animal Models for Hermansky-Pudlak Syndrome or affiliated genes

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36MGI
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Publications for Hermansky-Pudlak Syndrome

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50PubMed
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Articles related to Hermansky-Pudlak Syndrome:

(show top 50)    (show all 267)
idTitleAuthorsYear
1
Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding). (24179932)
2013
2
Dysregulation of Galectin-3: Implications for Hermansky-Pudlak Syndrome Pulmonary Fibrosis. (24134621)
2013
3
Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype. (23215637)
2013
4
Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis. (23171219)
2013
5
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. (23403622)
2013
6
The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type III+. (23676666)
2013
7
The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. (23043085)
2012
8
SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models. (22611153)
2012
9
Early alveolar epithelial dysfunction promotes lung inflammation in a mouse model of Hermansky-Pudlak syndrome. (21616998)
2011
10
Therapy refractory menorrhagia as first manifestation of Hermansky-Pudlak syndrome. (22057877)
2011
11
The management of gastrointestinal disease in Hermansky-Pudlak syndrome. (21085008)
2011
12
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). (20514622)
2010
13
Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells. (21045126)
2010
14
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting. (19523149)
2009
15
Improper trafficking of melanocyte-specific proteins in Hermansky- Pudlak syndrome type-5. (17301833)
2007
16
Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. (17365864)
2007
17
The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene. (17632576)
2007
18
Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles. (16787394)
2006
19
The Zebrafish fade out mutant: a novel genetic model for Hermansky-Pudlak syndrome. (17003448)
2006
20
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. (16417222)
2006
21
Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome. (15655453)
2005
22
The CHiPS Domain--ancient traces for the Hermansky-Pudlak syndrome. (15941405)
2005
23
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). (12923531)
2003
24
Aberrant lung structure, composition, and function in a murine model of Hermansky-Pudlak syndrome. (12777251)
2003
25
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. (12442288)
2002
26
Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. (12239031)
2002
27
Hermansky-Pudlak syndrome: clinical presentation and confirmation of the value of the mepacrine-based cytofluorimetry test in the diagnosis of delta granule deficiency. (11224500)
2001
28
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. (11487012)
2001
29
Hermansky-Pudlak syndrome presenting with subdural haematoma and retinal haemorrhages in infancy. (11198692)
2000
30
Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome. (11041359)
2000
31
Hermansky-Pudlak syndrome: models for intracellular vesicle formation. (9787100)
1998
32
Three new mutations in a gene causing Hermansky-Pudlak syndrome. (9851892)
1998
33
Hermansky-Pudlak syndrome with diffuse pulmonary fibrosis: radiologic-pathologic correlation. (9530389)
1998
34
Hermansky-Pudlak syndrome: a case report and discussion. (9796588)
1998
35
Perturbed epidermal pterin metabolism in Hermansky-Pudlak syndrome. (9740249)
1998
36
Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking. (9759648)
1998
37
Diffuse pulmonary fibrosis and Hermansky-Pudlak syndrome. (7597682)
1995
38
Hermansky-Pudlak Syndrome (20301464)
1993
39
Analysis of platelet cytoskeleton assembly during platelet activation in Hermansky-Pudlak syndrome and thrombasthenia. (2339346)
1990
40
Hermansky-Pudlak syndrome in pregnancy: two case studies. (4061519)
1985
41
Hermansky-Pudlak syndrome: a clinicopathologic study. (3980007)
1985
42
Hermansky-pudlak syndrome and interstitial lung disease: report of a case with lavage findings. (6742598)
1984
43
Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction. A case report and review of the literature. (6422616)
1984
44
The melanin pigmentary disorder in a family with Hermansky-Pudlak syndrome. (7057049)
1982
45
Platelet aggregation independent of ADP release or prostaglandin synthesis in patients with hermansky-Pudlak syndrome. (7280120)
1981
46
Albinos who bleed (Hermansky-Pudlak syndrome). The Gypsy's Warning? (6964251)
1981
47
Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. (443250)
1979
48
Hermansky-Pudlak syndrome and factor VIII ristocetin cofactor. (427047)
1979
49
Thromboxane synthesis and the platelet release reaction in Bernard-Soulier syndrome, thrombasthenia Glanzmann and Hermansky-Pudlak syndrome. (559512)
1977
50
Studies of platelets in a variant of the Hermansky-Pudlak syndrome. (5090642)
1971

Genetic Variations for Hermansky-Pudlak Syndrome

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Expression for genes affiliated with Hermansky-Pudlak Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hermansky-Pudlak Syndrome

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Pathways for genes affiliated with Hermansky-Pudlak Syndrome

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29KEGG, 53Reactome
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Pathways related to Hermansky-Pudlak Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2LAMP2, CD63, AP3M1, AP3B1
210.1DTNBP1, AP3B1, SNAPIN, BLOC1S3, BLOC1S6, BLOC1S4
3
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10.1BLOC1S4, BLOC1S6, BLOC1S3, SNAPIN, AP3B1, DTNBP1

Compounds for genes affiliated with Hermansky-Pudlak Syndrome

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44Novoseek, 2BitterDB, 24HMDB, 11DrugBank
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Compounds related to Hermansky-Pudlak Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dhica4410.5TYR, TYRP1
2kojic acid4410.5TYR, TYRP1
3arbutin2 4411.5TYRP1, TYR
4dopaquinone44 2411.4TYR, TYRP1
5mannose 6-phosphate44 2411.4LAMP2, CD63, TYRP1, AGFG1
6eumelanin4410.4TYRP1, TYR
7hmba4410.4TYRP1, TYR
8dopachrome4410.3TYRP1, TYR
9levodopa44 1111.0TYR, TYRP1, HPS1

GO Terms for genes affiliated with Hermansky-Pudlak Syndrome

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16Gene Ontology
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Cellular components related to Hermansky-Pudlak Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:03316210.5DTNBP1, TYR, TYRP1
2transport vesicleGO:03013310.4BLOC1S5, BLOC1S3, BLOC1S6
3platelet dense granule membraneGO:03108810.4LAMP2, CD63
4endosome membraneGO:01000810.3CD63, TYRP1, DTNBP1
5lysosomeGO:00576410.3LAMP2, HPS4, HPS1, TYR, AP3M1
6BLOC-1 complexGO:03108310.2BLOC1S4, BLOC1S2, BLOC1S6, BLOC1S3, BLOC1S5, SNAPIN
7lysosomal membraneGO:00576510.1AP3B1, AP3M1, CD63, LAMP2
8melanosomeGO:04247010.0HPS4, TYRP1, TYR

Biological processes related to Hermansky-Pudlak Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1secretion of lysosomal enzymesGO:03329910.5BLOC1S3, BLOC1S6, HPS1
2endosome to melanosome transportGO:03564610.5BLOC1S5, BLOC1S3, BLOC1S6
3platelet dense granule organizationGO:06015510.5DTNBP1, BLOC1S3, BLOC1S2
4positive regulation of natural killer cell activationGO:03281610.5BLOC1S3, BLOC1S6, HPS1
5melanocyte differentiationGO:03031810.5BLOC1S6, TYRP1, HPS6, HPS1, HPS4
6organelle organizationGO:00699610.5HPS3, HPS5, HPS6
7post-Golgi vesicle-mediated transportGO:00689210.4DTNBP1, BLOC1S3, BLOC1S6, BLOC1S4
8lysosome organizationGO:00704010.4HPS4, HPS1
9melanosome transportGO:03240210.4BLOC1S5, BLOC1S3, BLOC1S6
10pigmentationGO:04347310.3HPS3, HPS5, BLOC1S3
11neuron projection developmentGO:03117510.3DTNBP1, SNAPIN, BLOC1S5, BLOC1S3, BLOC1S6, BLOC1S2
12blood coagulationGO:00759610.3DTNBP1, AP3B1, BLOC1S6, CD63, HPS6, HPS1
13positive regulation of pigment cell differentiationGO:05094210.3BLOC1S5, BLOC1S6
14melanosome organizationGO:03243810.2SNAPIN, AP3B1, DTNBP1, BLOC1S5, BLOC1S3, TYRP1
15anterograde axon cargo transportGO:00808910.2BLOC1S4, BLOC1S2, BLOC1S6, BLOC1S3, BLOC1S5, SNAPIN
16anterograde synaptic vesicle transportGO:04849010.2BLOC1S4, BLOC1S2, BLOC1S6, BLOC1S3, BLOC1S5, SNAPIN
17protein targeting to lysosomeGO:00662210.1AP3M1, AP3B1

Molecular functions related to Hermansky-Pudlak Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055159.6HPS4, AP3M1, SNAPIN, AGFG1, BLOC1S5, BLOC1S3

Products for genes affiliated with Hermansky-Pudlak Syndrome

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25ICD10
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27ICD9CM
28IUPHAR
29KEGG
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