HPS
MCID: HRM001
MIFTS: 55

Hermansky-Pudlak Syndrome (HPS) malady

Summaries for Hermansky-Pudlak Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 albinism and hermansky-pudlak syndrome 1. 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 bone marrow, retina and small intestine, 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:47 203300,608233

GeneReviews summary for hps

Aliases & Classifications for Hermansky-Pudlak Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 35MeSH, 57SNOMED-CT, 40NCIt
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Aliases & Descriptions:

hermansky-pudlak syndrome 8 19 43 21 10 45
hermansky pudlak syndrome 43 20 22
hps 8 43 21
albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 43 61
delta storage pool disease 43
hermanski-pudlak syndrome 61
hantavirus infections 61


External Ids:

Disease Ontology8 DOID:3753
MeSH35 D022861
NCIt40 C37261

Related Diseases for Hermansky-Pudlak Syndrome

Sources:
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 210)
idRelated DiseaseScoreTop Affiliating Genes
1albinism31.2TYRP1, HPS1, TYR
2hermansky-pudlak syndrome 131.2HPS1
3oculocutaneous albinism31.0TYRP1, AP3B1, TYR
4hermansky-pudlak syndrome 630.9HPS6
5hermansky-pudlak syndrome 830.9BLOC1S3
6hermansky-pudlak syndrome 330.8HPS3
7chediak-higashi syndrome30.8TYR
8hermansky-pudlak syndrome 530.8HPS5
9platelet storage pool deficiency30.8HPS6, BLOC1S3, HPS1, HPS4, HPS5, HPS3
10ocular albinism30.4TYR, TYRP1
11n syndrome10.9
12char syndrome10.8
13hermansky pudlak syndrome 210.8
14hermansky-pudlak syndrome 710.6
15hermansky-pudlak syndrome 910.6
16isolated delta-storage pool disease10.6
17bod syndrome10.6
18hermansky-pudlak syndrome 410.6
19diffuse pulmonary fibrosis10.5
20crohn's disease10.4
21hemophagocytic lymphohistiocytosis10.4
22thrombasthenia10.4
23pulmonary function10.4
24hantavirus pulmonary syndrome10.3
25crescentic glomerulonephritis10.3
26pulmonary sarcoidosis10.3
27qualitative platelet defect10.3
28systemic lupus erythematosus10.3
29pulmonary alveolar proteinosis10.3
30good syndrome10.3
31bernard-soulier syndrome10.3
32glanzmann's thrombasthenia10.3
33gastroduodenitis10.3
34adult syndrome10.3
35micro syndrome10.3
36neuronal ceroid-lipofuscinoses10.3
37young syndrome10.3
38gray platelet syndrome10.3
39kid syndrome10.3
40mental retardation10.3
41blindness10.3
42serotonin syndrome10.3
43pulmonary tuberculosis10.2
44plasmodium falciparum malaria10.2
45anhaptoglobinemia10.2
46type 1 diabetes10.2
47batten disease10.2
48tuberculosis10.2
49diabetic nephropathy10.1
50coronary artery disease,10.1

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



Diseases related to hermansky-pudlak syndrome

Clinical Features for Hermansky-Pudlak Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

203300,608233

Drugs & Therapeutics for Hermansky-Pudlak Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Hermansky-Pudlak Syndrome

Drug clinical trials:

Search ClinicalTrials for Hermansky-Pudlak Syndrome

Search NIH Clinical Center for Hermansky-Pudlak Syndrome

Search CenterWatch for Hermansky-Pudlak Syndrome

Genetic Tests for Hermansky-Pudlak Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Hermansky-Pudlak Syndrome:

33
Bone marrow, Retina, Small intestine, Kidney, Lung, Skin, Monocytes, T cells

Animal Models for Hermansky-Pudlak Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Hermansky-Pudlak Syndrome

Sources:
51PubMed
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Articles related to Hermansky-Pudlak Syndrome:

(show top 50)    (show all 268)
idTitleAuthorsYear
1
Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects. (24168225)
2013
2
Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life. (23364359)
2013
3
Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects. (24302998)
2013
4
Dysregulation of Galectin-3: Implications for Hermansky-Pudlak Syndrome Pulmonary Fibrosis. (24134621)
2013
5
Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype. (23215637)
2013
6
snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5. (23893484)
2013
7
Hermansky-Pudlak syndrome: health care throughout life. (23753089)
2013
8
Hermansky-Pudlak syndrome complicated by pulmonary fibrosis. (22275791)
2012
9
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. (22009278)
2012
10
Hermansky-Pudlak syndrome: the importance of molecular subtyping. (20456745)
2010
11
Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia. (20378731)
2010
12
Altered lung surfactant system in a Rab38-deficient rat model of Hermansky-Pudlak syndrome. (19897744)
2010
13
Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells. (21045126)
2010
14
Hermansky-Pudlak syndrome. (20214008)
2009
15
Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1. (19729668)
2009
16
A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5. (18182080)
2008
17
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. (17933573)
2008
18
Interaction of Hermansky-Pudlak Syndrome genes in the regulation of lysosome-related organelles. (16787394)
2006
19
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. (16417222)
2006
20
Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database. (16550546)
2006
21
Shared mechanisms of lung injury and subsequent fibrosis: role of surfactant proteins in the pathogenesis of interstitial pneumonia in Hermansky-Pudlak Syndrome. (16020872)
2005
22
Hermansky-Pudlak syndrome with interstitial pneumonia without mutation of HSP1 gene. (16020891)
2005
23
Hermansky-Pudlak syndrome with a novel mutation. (16093596)
2005
24
A case of deep vein thrombosis in patient with Hermansky-Pudlak syndrome. (16044314)
2005
25
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). (14718540)
2004
26
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. (15265785)
2004
27
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. (12847290)
2003
28
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. (12664304)
2003
29
The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome. (12243726)
2002
30
Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. (12239031)
2002
31
Successful thyroidectomy in a patient with Hermansky-Pudlak syndrome treated with recombinant activated factor VII and platelet concentrates. (12192307)
2002
32
Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus. (11592818)
2001
33
The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. (11707070)
2001
34
Hermansky-Pudlak syndrome and related disorders of organelle formation. (11208073)
2000
35
Interstitial pneumonia in Hermansky-Pudlak syndrome: significance of florid foamy swelling/degeneration (giant lamellar body degeneration) of type-2 pneumocytes. (11037352)
2000
36
Analyses of proteins involved in vesicular trafficking in platelets of mouse models of Hermansky Pudlak syndrome. (10479478)
1999
37
Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. (9705234)
1998
38
rim2 (recombination-induced mutation 2) is a new allele of pearl and a mouse model of human Hermansky-Pudlak syndrome (HPS): genetic and physical mapping. (9434937)
1998
39
Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking. (9759648)
1998
40
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. (9182823)
1997
41
The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome. (9256466)
1997
42
The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin. (7682577)
1993
43
Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction. (3493691)
1987
44
The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations. (3921802)
1985
45
Hermansky-Pudlak syndrome: a clinicopathologic study. (3980007)
1985
46
Hermansky-Pudlak syndrome with special reference to lysosomal dysfunction. A case report and review of the literature. (6422616)
1984
47
Hermansky-Pudlak syndrome: albinism with lipofuscin storage. (7298260)
1981
48
Proceedings: Differences in platelet storage pool deficiency (SPD) of Hermansky Pudlak syndrome (HPS) and non-albinos (NA). (1188821)
1975
49
The Hermansky-Pudlak syndrome: ultrastructure of bone marrow macrophages. (4347622)
1973
50
Studies of platelets in a variant of the Hermansky-Pudlak syndrome. (5090642)
1971

Genetic Variations for Hermansky-Pudlak Syndrome

Expression for genes affiliated with Hermansky-Pudlak Syndrome

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

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome.

Pathways for genes affiliated with Hermansky-Pudlak Syndrome

Sources:
30KEGG, 54Reactome
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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
Hide members
10.1BLOC1S4, BLOC1S6, BLOC1S3, SNAPIN, AP3B1, DTNBP1

Compounds for genes affiliated with Hermansky-Pudlak Syndrome

Sources:
45Novoseek, 2BitterDB, 24HMDB, 11DrugBank
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Compounds related to Hermansky-Pudlak Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dhica4510.5TYR, TYRP1
2kojic acid4510.5TYR, TYRP1
3arbutin2 4511.5TYRP1, TYR
4dopaquinone45 2411.4TYR, TYRP1
5mannose 6-phosphate45 2411.4LAMP2, CD63, TYRP1, AGFG1
6eumelanin4510.4TYRP1, TYR
7hmba4510.4TYRP1, TYR
8dopachrome4510.3TYRP1, TYR
9levodopa45 1111.0TYR, TYRP1, HPS1

GO Terms for genes affiliated with Hermansky-Pudlak Syndrome

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

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet