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:

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

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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, Bone, Bone marrow, Monocytes, 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
Metastatic cutaneous involvement of granulomatous colitis in Hermansky-Pudlak syndrome. (22471786)
2013
2
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2. (23557002)
2013
3
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. (23607980)
2013
4
An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients. (23563589)
2013
5
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. (22709368)
2012
6
Hypertension, chronic kidney disease, and renal pathology in a child with hermansky-pudlak syndrome. (21755057)
2011
7
Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. (21420888)
2011
8
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. (21833017)
2011
9
Histochemical and cellular changes accompanying the appearance of lung fibrosis in an experimental mouse model for Hermansky Pudlak syndrome. (20603711)
2010
10
Hermansky-Pudlak syndrome type 1 in patients of Indian descent. (19398212)
2009
11
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. (19843503)
2009
12
Two successful vaginal births after cesarean section in a patient with Hermansky-Pudlak syndrome who was treated with 1-deamino-8-arginine-vasopression during labor. (19160629)
2008
13
Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child. (18473428)
2008
14
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). (17156100)
2007
15
Hermansky-Pudlak syndrome. (17635513)
2007
16
Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome. (16848805)
2006
17
Pulmonary fibrosis in hermansky-pudlak syndrome. a case report and review. (16490934)
2006
18
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). (16385460)
2006
19
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. (15632015)
2005
20
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. (16159387)
2005
21
Ultrastructural features of trafficking defects are pronounced in melanocytic nevus in Hermansky-Pudlak syndrome type 1. (15982315)
2005
22
Hermansky-Pudlak syndrome in a pregnant patient. (15321936)
2004
23
Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance. (14510955)
2003
24
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. (12756248)
2003
25
Hermansky-Pudlak syndrome: infrequent bleeding and first report of Turkish and Pakistani kindreds. (11919112)
2002
26
Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. (12445206)
2002
27
Hermansky-Pudlak syndrome: vesicle formation from yeast to man. (12453182)
2002
28
Iga nephropathy, antineutrophil cytoplasmic antibodies and crescentic glomerulonephritis in a patient with the Hermansky-Pudlak syndrome. (11275635)
2001
29
Hermansky-Pudlak syndrome. (11399548)
2001
30
Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. (10768343)
2000
31
Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. (10631210)
2000
32
Small-bowel stricture in a woman with oculocutaneous albinism (Hermansky-Pudlak syndrome). (10749270)
2000
33
The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. (10655547)
2000
34
Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium. (10761991)
2000
35
Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism. (11110696)
2000
36
A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation. (10759101)
2000
37
Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. (10193444)
1999
38
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. (10024875)
1999
39
The gene for lysosomal protein CD63 is normal in patients with Hermansky-Pudlak syndrome. (9617741)
1998
40
Mouse models of Hermansky Pudlak syndrome: a review. (9585243)
1998
41
Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. (9579545)
1998
42
Hermansky-Pudlak syndrome: report of a case with histological, immunohistochemical and ultrastructural findings. (9765024)
1998
43
The Hermansky-Pudlak syndrome. (9745819)
1997
44
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. (8541858)
1995
45
Ceroid pigment deposition in circulating blood monocytes and T lymphocytes in Hermansky-Pudlak syndrome: an ultrastructural study. (8581150)
1995
46
The Hermansky-Pudlak syndrome. Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time. (2126369)
1990
47
The role of ceroid in lung and gastrointestinal disease in Hermansky-Pudlak syndrome. (2486155)
1989
48
Hermansky-Pudlak syndrome: an immunologic assessment of 15 cases. (3195606)
1988
49
The Hermansky-Pudlak syndrome: radiographic features. (2939083)
1986
50
The Hermansky-Pudlak syndrome: inclusions in circulating leucocytes. (4351906)
1973

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:03316210.5TYRP1, 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:03329910.6BLOC1S6, BLOC1S3, HPS1
2positive regulation of natural killer cell activationGO:03281610.5HPS1, BLOC1S6, BLOC1S3
3endosome to melanosome transportGO:03564610.5BLOC1S6, BLOC1S5, BLOC1S3
4melanocyte differentiationGO:03031810.5HPS1, BLOC1S6, HPS4, HPS6, TYRP1
5platelet dense granule organizationGO:06015510.5BLOC1S3, BLOC1S2, DTNBP1
6organelle organizationGO:00699610.5HPS5, HPS3, HPS6
7post-Golgi vesicle-mediated transportGO:00689210.4DTNBP1, BLOC1S4, BLOC1S6, BLOC1S3
8lysosome organizationGO:00704010.4HPS4, HPS1
9melanosome transportGO:03240210.4BLOC1S5, BLOC1S3, BLOC1S6
10pigmentationGO:04347310.3HPS5, HPS3, BLOC1S3
11neuron projection developmentGO:03117510.3BLOC1S2, BLOC1S6, BLOC1S3, BLOC1S5, DTNBP1, BLOC1S4
12blood coagulationGO:00759610.3BLOC1S6, HPS4, AP3B1, LAMP2, HPS1, HPS5
13positive regulation of pigment cell differentiationGO:05094210.3BLOC1S6, BLOC1S5
14melanosome organizationGO:03243810.2AP3B1, BLOC1S3, DTNBP1, TYRP1, BLOC1S4, BLOC1S6
15anterograde axon cargo transportGO:00808910.2BLOC1S4, BLOC1S2, BLOC1S6, BLOC1S3, BLOC1S5, SNAPIN
16anterograde synaptic vesicle transportGO:04849010.2BLOC1S5, BLOC1S2, BLOC1S3, SNAPIN, AP3M1, AP3B1
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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3CDC
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24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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