HPS
MCID: HRM001
MIFTS: 55

Hermansky-Pudlak Syndrome (HPS) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases, Endocrine diseases, Respiratory diseases categories
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Summaries for Hermansky-Pudlak Syndrome

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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 based summary: Hermansky-Pudlak Syndrome, also known as HPS, is related to hermansky-pudlak syndrome 1 and albinism. An important gene associated with Hermansky-Pudlak Syndrome is HPS6 (Hermansky-Pudlak syndrome 6), and among its related pathways is Clathrin derived vesicle budding. Affiliated tissues include eye, skin and kidney, and related mouse phenotypes are no phenotypic analysis and limbs/digits/tail.

Genetics Home Reference:21 Hermansky-Pudlak syndrome is a disorder 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. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.

Descriptions from OMIM:46 203300,608233

GeneReviews summary for hps

Aliases & Classifications for Hermansky-Pudlak Syndrome

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Hermansky-Pudlak Syndrome, Aliases & Descriptions:

Name: Hermansky-Pudlak Syndrome 8 19 42 21 10 44
Hps 8 42 21 62
Hermansky Pudlak Syndrome 42 20 22
 
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 42 62
Delta Storage Pool Disease 42
Hermanski-Pudlak Syndrome 62


Classifications:



External Ids:

Disease Ontology8 DOID:3753
NCIt39 C37261
MeSH34 D022861

Related Diseases for Hermansky-Pudlak Syndrome

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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 113)
idRelated DiseaseScoreTop Affiliating Genes
1hermansky-pudlak syndrome 131.8HPS1
2albinism31.7HPS1
3hermansky-pudlak syndrome 331.4HPS3
4hermansky-pudlak syndrome 531.4HPS5
5hermansky-pudlak syndrome 631.4HPS6
6pulmonary fibrosis30.8HPS3, HPS4, HPS1
7oculocutaneous albinism29.5BLOC1S3, HPS6, HPS1, HPS4, HPS5, HPS3
8platelet storage pool deficiency29.3HPS6, HPS1, HPS4, HPS5, HPS3, AP3B1
9hermansky pudlak syndrome 210.8
10colitis10.7
11pneumonia10.7
12hermansky-pudlak syndrome 710.7
13hermansky-pudlak syndrome 910.7
14hermansky-pudlak syndrome 410.6
15hermansky-pudlak syndrome 810.6
16isolated delta-storage pool disease10.6
17chediak-higashi syndrome10.5
18diffuse pulmonary fibrosis10.5
19interstitial lung disease10.5
20hantavirus pulmonary syndrome10.5
21hemophagocytic lymphohistiocytosis10.4
22neuronitis10.4
23thrombasthenia10.4
24pulmonary function10.4
25anhaptoglobinemia10.4
26malaria10.3
27artery disease10.3
28neuronal ceroid-lipofuscinoses10.3
29crohn's disease10.3
30glomerulonephritis10.3
31hiv-110.3
32hypertension10.3
33pulmonary sarcoidosis10.3
34schizophrenia10.3
35systemic lupus erythematosus10.3
36nonspecific interstitial pneumonia10.3
37bernard-soulier syndrome10.3
38crescentic glomerulonephritis10.3
39pulmonary alveolar proteinosis10.3
40gastroduodenitis10.3
41dysostosis10.3
42intestinal disease10.3
43kidney disease10.3
44lung cancer10.3
45lupus erythematosus10.3
46melanoma10.3
47night blindness10.3
48pneumothorax10.3
49retinitis10.3
50sarcoidosis10.3

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



Diseases related to hermansky-pudlak syndrome

Symptoms for Hermansky-Pudlak Syndrome

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Clinical features from OMIM:

203300,608233

Drugs & Therapeutics for Hermansky-Pudlak Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Hermansky-Pudlak Syndrome

Genetic Tests for Hermansky-Pudlak Syndrome

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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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MalaCards organs/tissues related to Hermansky-Pudlak Syndrome:

32
Eye, Skin, Kidney, Retina, Lung, Testes, Bone marrow, Bone, Monocytes, Neutrophil

Animal Models for Hermansky-Pudlak Syndrome or affiliated genes

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Publications for Hermansky-Pudlak Syndrome

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Articles related to Hermansky-Pudlak Syndrome:

(show top 50)    (show all 272)
idTitleAuthorsYear
1
Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia. (24583434)
2014
2
Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant. (25117010)
2014
3
Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome. (25347450)
2014
4
Metastatic cutaneous involvement of granulomatous colitis in Hermansky-Pudlak syndrome. (22471786)
2013
5
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2. (23557002)
2013
6
Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects. (24168225)
2013
7
The unique association of iris heterochromia with Hermansky-Pudlak syndrome. (24054038)
2013
8
The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. (23043085)
2012
9
Hypertension, chronic kidney disease, and renal pathology in a child with hermansky-pudlak syndrome. (21755057)
2011
10
Early alveolar epithelial dysfunction promotes lung inflammation in a mouse model of Hermansky-Pudlak syndrome. (21616998)
2011
11
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). (20514622)
2010
12
Hermansky-Pudlak syndrome: severe colitis and good response to infliximab. (20543722)
2010
13
Hermansky-Pudlak syndrome: the importance of molecular subtyping. (20456745)
2010
14
Hermansky-Pudlak syndrome. (20214008)
2009
15
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting. (19523149)
2009
16
Hermansky-Pudlak syndrome type 1 in patients of Indian descent. (19398212)
2009
17
A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5. (18182080)
2008
18
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). (17156100)
2007
19
Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. (16420244)
2006
20
Crohn's-like colitis, enterocolitis and perianal disease in Hermansky-Pudlak syndrome. (16919103)
2006
21
Lung-restricted macrophage activation in the pearl mouse model of Hermansky-Pudlak syndrome. (16547274)
2006
22
Expression of cellular prion protein on platelets from patients with gray platelet or Hermansky-Pudlak syndrome and the protein's association with alpha-granules. (16885055)
2006
23
Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. (15675963)
2005
24
Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome. (15655453)
2005
25
Shared mechanisms of lung injury and subsequent fibrosis: role of surfactant proteins in the pathogenesis of interstitial pneumonia in Hermansky-Pudlak Syndrome. (16020872)
2005
26
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. (15632015)
2005
27
Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles. (15170859)
2004
28
Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome. (15519141)
2004
29
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. (12847290)
2003
30
Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). (12576321)
2003
31
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. (12548288)
2003
32
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. (12664304)
2003
33
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. (12442288)
2002
34
Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. (12125811)
2002
35
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
36
Hermansky-Pudlak syndrome and related disorders of organelle formation. (11208073)
2000
37
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
38
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
39
HPS gene mutations in Hermansky-Pudlak syndrome. (9973306)
1999
40
Platelet von Willebrand factor in Hermansky-Pudlak syndrome. (9766795)
1998
41
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. (8541858)
1995
42
Albinism and Hermansky-Pudlak syndrome in Puerto Rico. (2261023)
1990
43
Regulation of thioredoxin reductase by calcium in Hermansky-Pudlak syndrome. (2730141)
1989
44
Hermansky-Pudlak syndrome. Ophthalmic findings. (3174014)
1988
45
Hermansky-Pudlak syndrome in pregnancy: two case studies. (4061519)
1985
46
The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations. (3921802)
1985
47
Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome. (4084482)
1985
48
Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). (7065089)
1982
49
Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. (443250)
1979
50
Hermansky-Pudlak syndrome (HPS): a proposed block in glutathione peroxidase. (4513648)
1973

Variations for Hermansky-Pudlak Syndrome

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Expression for genes affiliated with Hermansky-Pudlak Syndrome

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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

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Pathways related to Hermansky-Pudlak Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.8DTNBP1, AP3B1, BLOC1S3

Compounds for genes affiliated with Hermansky-Pudlak Syndrome

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GO Terms for genes affiliated with Hermansky-Pudlak Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1BLOC-1 complexGO:0310839.3DTNBP1, BLOC1S3
2BLOC-2 complexGO:0310849.1HPS6, HPS5, HPS3
3BLOC-3 complexGO:0310859.1HPS1, HPS4

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1organelle organizationGO:0069969.5HPS6, HPS5, HPS3
2lysosome organizationGO:0070409.4HPS1, HPS4
3platelet dense granule organizationGO:0601559.3BLOC1S3, DTNBP1
4secretion of lysosomal enzymesGO:0332999.3HPS1, BLOC1S3
5positive regulation of natural killer cell activationGO:0328169.3HPS1, BLOC1S3
6membrane organizationGO:0610249.3DTNBP1, BLOC1S3
7melanocyte differentiationGO:0303189.2HPS6, HPS1, HPS4
8post-Golgi vesicle-mediated transportGO:0068929.2DTNBP1, BLOC1S3
9anterograde synaptic vesicle transportGO:0484909.0BLOC1S3, AP3B1, DTNBP1
10melanosome organizationGO:0324389.0DTNBP1, AP3B1, BLOC1S3
11neuron projection developmentGO:0311759.0DTNBP1, BLOC1S3
12anterograde axon cargo transportGO:0080899.0BLOC1S3, AP3B1, DTNBP1
13pigmentationGO:0434738.9HPS5, HPS3, BLOC1S3
14blood coagulationGO:0075968.0HPS6, AP3B1, DTNBP1, HPS5, HPS4, HPS1

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

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:0469839.4HPS1, HPS4

Products for genes affiliated with Hermansky-Pudlak Syndrome

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Sources for Hermansky-Pudlak Syndrome

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