HPS
MCID: HRM001
MIFTS: 64

Hermansky-Pudlak Syndrome (HPS)

Categories: Blood diseases, Cancer diseases, Eye diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hermansky-Pudlak Syndrome

MalaCards integrated aliases for Hermansky-Pudlak Syndrome:

Name: Hermansky-Pudlak Syndrome 12 77 25 54 26 60 38 30 56 6 15 41
Hps 54 26 60
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 54 74
Hermanski-Pudlak Syndrome 45 74
Platelet Storage Pool Deficiency 74
Delta Storage Pool Disease 54
Hermansky Pudlak Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
hermansky-pudlak syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:



Summaries for Hermansky-Pudlak Syndrome

NIH Rare Diseases : 54 Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by 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. Treatment is symptomatic and supportive. There are nine 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, 8 and 9.

MalaCards based summary : Hermansky-Pudlak Syndrome, also known as hps, is related to hermansky-pudlak syndrome 6 and hermansky-pudlak syndrome 5, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome is HPS1 (HPS1 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1), and among its related pathways/superpathways are Lysosome and Vesicle-mediated transport. The drugs Pirfenidone and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and prostate, and related phenotypes are nystagmus and immunodeficiency

Disease Ontology : 12 An autosomal recessive disease characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.

Genetics Home Reference : 26 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.

Wikipedia : 77 Heřmanský–Pudlák syndrome (often written Hermansky–Pudlak syndrome or abbreviated HPS) is an extremely... more...

GeneReviews: NBK1287

Related Diseases for Hermansky-Pudlak Syndrome

Diseases in the Hermansky-Pudlak Syndrome family:

Hermansky-Pudlak Syndrome 1 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 Hermansky-Pudlak Syndrome 10

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

(show top 50) (show all 167)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 6 34.9 HPS5 HPS6
2 hermansky-pudlak syndrome 5 34.8 HPS5 HPS6
3 hermansky-pudlak syndrome 9 34.6 BLOC1S6 CD63
4 hermansky-pudlak syndrome with pulmonary fibrosis 34.3 HPS1 HPS4
5 hermansky-pudlak syndrome without pulmonary fibrosis 33.8 HPS3 HPS5 HPS6
6 hermansky-pudlak syndrome 1 33.8 AP3B1 DTNBP1 HPS1 HPS4 TYR
7 hermansky-pudlak syndrome 3 33.4 HPS3 HPS5 HPS6 TYR TYRP1
8 storage pool platelet disease 32.0 AP3B1 BLOC1S3 BLOC1S6 HPS3 HPS4 HPS6
9 albinism, oculocutaneous, type ib 31.8 TYR TYRP1
10 pulmonary fibrosis 31.2 HPS1 HPS3 HPS4 HPS5 HPS6
11 chediak-higashi syndrome 30.3 HPS1 TYR TYRP1
12 albinism, oculocutaneous, type ia 29.9 TYR TYRP1
13 albinism 29.9 AP3D1 BLOC1S3 HPS1 HPS4 TYR TYRP1
14 oculocutaneous albinism 28.3 AP3B1 BLOC1S3 BLOC1S6 CD63 HPS1 HPS3
15 hermansky-pudlak syndrome 2 13.0
16 hermansky-pudlak syndrome 4 13.0
17 hermansky-pudlak syndrome 8 13.0
18 hermansky-pudlak syndrome 7 12.9
19 hermansky-pudlak syndrome 10 12.8
20 isolated delta-storage pool disease 12.5
21 hantavirus pulmonary syndrome 12.2
22 pancreatitis, hereditary 11.8
23 extrinsic allergic alveolitis 11.7
24 hepatopulmonary syndrome 11.6
25 hemiparkinsonism-hemiatrophy syndrome 11.1
26 hypersensitivity pneumonitis, familial 11.0
27 bird fancier's lung 11.0
28 malt worker's lung 11.0
29 mushroom workers' lung 11.0
30 maple bark strippers' lung 11.0
31 colitis 10.8
32 pneumonia 10.7
33 prostate cancer 10.6
34 lung disease 10.6
35 interstitial lung disease 10.5
36 diffuse pulmonary fibrosis 10.5
37 enterocolitis 10.4
38 crohn's disease 10.4
39 hemophagocytic lymphohistiocytosis 10.4
40 thrombasthenia 10.4
41 prostatic hyperplasia, benign 10.4
42 prostatic adenoma 10.4
43 systemic lupus erythematosus 10.2
44 retinoblastoma 10.2
45 schizophrenia 10.2
46 bernard-soulier syndrome 10.2
47 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.2
48 neuronal ceroid-lipofuscinoses 10.2
49 chronic kidney failure 10.2
50 end stage renal failure 10.2

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



Diseases related to Hermansky-Pudlak Syndrome

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome

Human phenotypes related to Hermansky-Pudlak Syndrome:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000639
2 immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002721
3 neutropenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001875
4 partial albinism 60 33 hallmark (90%) Very frequent (99-80%) HP:0007443
5 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
6 abnormality of visual evoked potentials 60 33 frequent (33%) Frequent (79-30%) HP:0000649
7 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
8 photophobia 60 33 frequent (33%) Frequent (79-30%) HP:0000613
9 pulmonary fibrosis 60 33 frequent (33%) Frequent (79-30%) HP:0002206
10 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
11 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
12 hypopigmentation of hair 60 33 frequent (33%) Frequent (79-30%) HP:0005599
13 amblyopia 60 33 frequent (33%) Frequent (79-30%) HP:0000646
14 epistaxis 60 33 frequent (33%) Frequent (79-30%) HP:0000421
15 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%) HP:0000978
16 ocular albinism 60 33 frequent (33%) Frequent (79-30%) HP:0001107
17 astigmatism 60 33 frequent (33%) Frequent (79-30%) HP:0000483
18 menometrorrhagia 60 33 frequent (33%) Frequent (79-30%) HP:0400008
19 abnormality of the optic nerve 60 33 frequent (33%) Frequent (79-30%) HP:0000587
20 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
21 fatigue 60 33 occasional (7.5%) Occasional (29-5%) HP:0012378
22 dyspnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002094
23 abdominal pain 60 33 occasional (7.5%) Occasional (29-5%) HP:0002027
24 hyperkeratosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000962
25 weight loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0001824
26 melanocytic nevus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000995
27 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
28 anorexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002039
29 abnormality of dental enamel 60 33 occasional (7.5%) Occasional (29-5%) HP:0000682
30 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
31 long eyelashes 60 33 occasional (7.5%) Occasional (29-5%) HP:0000527
32 squamous cell carcinoma of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0006739
33 basal cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002671
34 abnormal thrombocyte morphology 33 occasional (7.5%) HP:0001872
35 visual impairment 60 Occasional (29-5%)
36 abnormal bleeding 60 Very frequent (99-80%)
37 abnormality of thrombocytes 60 Occasional (29-5%)
38 thickened skin 60 Occasional (29-5%)
39 iris hypopigmentation 60 Very frequent (99-80%)
40 hypopigmentation of the skin 60 Very frequent (99-80%)

UMLS symptoms related to Hermansky-Pudlak Syndrome:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 AP3B1 AP3D1 BLOC1S6 CD63 DTNBP1 HPS1
2 growth/size/body region MP:0005378 10.24 AP3B1 AP3D1 BLOC1S3 BLOC1S6 HPS1 HPS4
3 hematopoietic system MP:0005397 10.23 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1
4 behavior/neurological MP:0005386 10.2 AP3B1 AP3D1 BLOC1S3 BLOC1S6 CD63 DTNBP1
5 cellular MP:0005384 10.18 AP3B1 AP3D1 BLOC1S3 BLOC1S6 HPS1 HPS4
6 hearing/vestibular/ear MP:0005377 10.18 AP3B1 AP3D1 BLOC1S3 BLOC1S6 HPS1 HPS4
7 integument MP:0010771 10.18 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1
8 craniofacial MP:0005382 10.16 AP3B1 BLOC1S3 HPS1 HPS4 HPS5 HPS6
9 cardiovascular system MP:0005385 10.14 AP3B1 BLOC1S6 HPS1 HPS4 HPS5 HPS6
10 immune system MP:0005387 10.1 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3
11 pigmentation MP:0001186 9.93 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1
12 nervous system MP:0003631 9.86 AP3B1 AP3D1 BLOC1S6 DTNBP1 HPS6 LAMP2
13 limbs/digits/tail MP:0005371 9.8 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS5 TYR
14 renal/urinary system MP:0005367 9.65 AP3B1 AP3D1 BLOC1S6 CD63 DTNBP1 HPS1
15 vision/eye MP:0005391 9.4 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1

Drugs & Therapeutics for Hermansky-Pudlak Syndrome

Drugs for Hermansky-Pudlak Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
2
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
3
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560 441411
4
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
5
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198 65143
6
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
7 Peripheral Nervous System Agents Phase 2,Phase 1
8 Anti-Inflammatory Agents Phase 2,Phase 1
9 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
10 Analgesics Phase 2,Phase 1
11 Antirheumatic Agents Phase 2,Phase 1
12 Analgesics, Non-Narcotic Phase 2,Phase 1
13 Protective Agents Phase 1, Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
15 Leukotriene Antagonists Phase 1, Phase 2
16 Pharmaceutical Solutions Phase 1, Phase 2
17 Gastrointestinal Agents Phase 1, Phase 2,Phase 2
18 Antihypertensive Agents Phase 1, Phase 2
19 Erythromycin Estolate Phase 1, Phase 2
20 Erythromycin Ethylsuccinate Phase 1, Phase 2
21 Giapreza Phase 1, Phase 2
22 Lipid Regulating Agents Phase 1, Phase 2
23 Lipoxygenase Inhibitors Phase 1, Phase 2
24 Respiratory System Agents Phase 1, Phase 2
25 Anticholesteremic Agents Phase 1, Phase 2
26 Hormone Antagonists Phase 1, Phase 2
27 Hypolipidemic Agents Phase 1, Phase 2
28 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
29 Anti-Arrhythmia Agents Phase 1, Phase 2
30 Antimetabolites Phase 1, Phase 2,Phase 2
31 Free Radical Scavengers Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Angiotensinogen Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Anti-Bacterial Agents Phase 1, Phase 2
36 Antidotes Phase 1, Phase 2
37 Antiviral Agents Phase 1, Phase 2
38 Erythromycin stearate Phase 1, Phase 2
39 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
40 Angiotensin Receptor Antagonists Phase 1, Phase 2
41 Expectorants Phase 1, Phase 2
42 N-monoacetylcystine Phase 1, Phase 2
43 Antioxidants Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
2 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin
3 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
4 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
5 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
6 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
7 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520

Search NIH Clinical Center for Hermansky-Pudlak Syndrome

Cochrane evidence based reviews: hermanski-pudlak syndrome

Genetic Tests for Hermansky-Pudlak Syndrome

Genetic tests related to Hermansky-Pudlak Syndrome:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 30

Anatomical Context for Hermansky-Pudlak Syndrome

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome:

42
Skin, Eye, Prostate, Kidney, Retina, Lung, Testes

Publications for Hermansky-Pudlak Syndrome

Articles related to Hermansky-Pudlak Syndrome:

(show top 50) (show all 455)
# Title Authors Year
1
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. ( 30791930 )
2019
2
Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report. ( 30833808 )
2019
3
Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells. ( 30630984 )
2019
4
Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report. ( 30634918 )
2019
5
Bleeding Assessment in female patients with the Hermansky-Pudlak syndrome - A Case Series. ( 30659653 )
2019
6
Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids. ( 30710063 )
2019
7
Unilateral retinoblastoma in a patient with Hermansky-Pudlak syndrome. ( 30712445 )
2019
8
In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids. ( 30773483 )
2019
9
Cyclooxygenase-2 regulates HPS patient serum induced-directional collective HPMVEC migration via PKC/Rac signaling pathway. ( 30660713 )
2019
10
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. ( 29054114 )
2018
11
Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease. ( 29427412 )
2018
12
Hermansky-Pudlak syndrome with a novel genetic variant in <i>HPS1</i> and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases. ( 29941477 )
2018
13
Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation. ( 29547626 )
2018
14
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood. ( 29580292 )
2018
15
A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4. ( 29108692 )
2018
16
Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype. ( 29090612 )
2018
17
Arterial blood gas changes during cardiac arrest and cardiopulmonary resuscitation combined with passive oxygenation/ventilation: a METI HPS study. ( 30185100 )
2018
18
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis. ( 30055995 )
2018
19
Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome. ( 30317187 )
2018
20
Instability of BLOC-2 and BLOC-3 in Chinese Patients with Hermansky-Pudlak Syndrome. ( 30387913 )
2018
21
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder. ( 30472485 )
2018
22
Can preoperative detrusor underactivity influence surgical outcomes of 120 W HPS vaporization of the prostate (PVP) or holmium laser enucleation of the prostate (HoLEP)? A serial 3-year follow-up study. ( 28598556 )
2018
23
Faculty Experiences with Integrating Mandated High-Fidelity Human Patient Simulation (HF-HPS) Into Clinical Practice: A Phenomenological Study. ( 29397385 )
2018
24
Hysteretic Photochromic Switching (HPS) in Doubly Doped GaN(Mg):Eu-A Summary of Recent Results. ( 30248983 )
2018
25
Validation of the Hypomanic Personality Scale (HPS) in Iranian adolescents. ( 30320449 )
2018
26
Spectroscopy of the electronic excited states of thioxophosphane, HPS, and of its deuterated species. ( 30384700 )
2018
27
Does Prostate Median Lobe Really Matter for GreenLight HPS Laser Photovaporization of the Prostate. ( 30426077 )
2018
28
Pathogenicity and molecular characterization of a fowl adenovirus 4 isolated from chicken associated with IBH and HPS in China. ( 30547794 )
2018
29
Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype. ( 28144619 )
2017
30
Novel mutation in two brothers with Hermansky Pudlak syndrome type 3. ( 28284561 )
2017
31
Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome. ( 27766632 )
2017
32
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. ( 28585318 )
2017
33
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9. ( 28475864 )
2017
34
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. ( 28259707 )
2017
35
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. ( 28296950 )
2017
36
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. ( 28289846 )
2017
37
Erratum: Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. ( 28035873 )
2017
38
Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations. ( 29044644 )
2017
39
The ET-1-mediated carbonylation and degradation of ANXA1 induce inflammatory phenotype and proliferation of pulmonary artery smooth muscle cells in HPS. ( 28414743 )
2017
40
Re: Greenlight High-Performance System (HPS) 120-W Laser Vaporization versus Transurethral Resection of the Prostate for the Treatment of Benign Prostatic Hyperplasia: A Meta-Analysis of the Published Results of Randomized Controlled Trials. ( 28618698 )
2017
41
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. ( 28640947 )
2017
42
Genetic variants and phylogenetic analysis of Haemophilus parasuis (HPS) OMPP2 detected in Sichuan, China from 2013 to 2015. ( 28824043 )
2017
43
Recombinant Botulinum Neurotoxin Hc Subunit (BoNT Hc) and Catalytically Inactive Clostridium botulinum Holoproteins (ciBoNT HPs) as Vaccine Candidates for the Prevention of Botulism. ( 28869522 )
2017
44
A novel vaporization-enucleation technique for benign prostate hyperplasia using 120-W HPS GreenLight™ laser: Seoul technique II in comparison with vaporization and previously reported modified vaporization-resection technique. ( 28942591 )
2017
45
Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis. ( 27459687 )
2016
46
Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky-Pudlak syndrome. ( 26839694 )
2016
47
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula. ( 26785811 )
2016
48
Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. ( 27333462 )
2016
49
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. ( 27917594 )
2016
50
Hermansky-Pudlak syndrome in pregnancy: A case report. ( 27829879 )
2016

Variations for Hermansky-Pudlak Syndrome

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome:

6 (show top 50) (show all 980)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPS3 NM_032383.4(HPS3): c.981A> G (p.Thr327=) single nucleotide variant Benign rs11718908 GRCh38 Chromosome 3, 149145364: 149145364
2 HPS3 NM_032383.4(HPS3): c.981A> G (p.Thr327=) single nucleotide variant Benign rs11718908 GRCh37 Chromosome 3, 148863151: 148863151
3 HPS3 NM_032383.4(HPS3): c.1494G> A (p.Gln498=) single nucleotide variant Benign rs6440589 GRCh37 Chromosome 3, 148872987: 148872987
4 HPS3 NM_032383.4(HPS3): c.1494G> A (p.Gln498=) single nucleotide variant Benign rs6440589 GRCh38 Chromosome 3, 149155200: 149155200
5 HPS3 NM_032383.4(HPS3): c.970+7A> G single nucleotide variant Benign/Likely benign rs114029765 GRCh38 Chromosome 3, 149141387: 149141387
6 HPS3 NM_032383.4(HPS3): c.970+7A> G single nucleotide variant Benign/Likely benign rs114029765 GRCh37 Chromosome 3, 148859174: 148859174
7 HPS3 NM_032383.4(HPS3): c.1479G> A (p.Thr493=) single nucleotide variant Benign/Likely benign rs34197730 GRCh38 Chromosome 3, 149155185: 149155185
8 HPS3 NM_032383.4(HPS3): c.1479G> A (p.Thr493=) single nucleotide variant Benign/Likely benign rs34197730 GRCh37 Chromosome 3, 148872972: 148872972
9 HPS3 NM_032383.4(HPS3): c.2526C> T (p.His842=) single nucleotide variant Benign rs3732557 GRCh37 Chromosome 3, 148881673: 148881673
10 HPS3 NM_032383.4(HPS3): c.2526C> T (p.His842=) single nucleotide variant Benign rs3732557 GRCh38 Chromosome 3, 149163886: 149163886
11 AP3B1 NM_003664.4(AP3B1): c.2016T> C (p.Ala672=) single nucleotide variant Benign rs42360 GRCh37 Chromosome 5, 77412011: 77412011
12 AP3B1 NM_003664.4(AP3B1): c.2016T> C (p.Ala672=) single nucleotide variant Benign rs42360 GRCh38 Chromosome 5, 78116187: 78116187
13 AP3B1 NM_003664.4(AP3B1): c.1754T> A (p.Val585Glu) single nucleotide variant Benign rs6453373 GRCh37 Chromosome 5, 77425028: 77425028
14 AP3B1 NM_003664.4(AP3B1): c.1754T> A (p.Val585Glu) single nucleotide variant Benign rs6453373 GRCh38 Chromosome 5, 78129204: 78129204
15 AP3B1 NM_003664.4(AP3B1): c.1317T> G (p.Thr439=) single nucleotide variant Conflicting interpretations of pathogenicity rs75248449 GRCh37 Chromosome 5, 77458689: 77458689
16 AP3B1 NM_003664.4(AP3B1): c.1317T> G (p.Thr439=) single nucleotide variant Conflicting interpretations of pathogenicity rs75248449 GRCh38 Chromosome 5, 78162865: 78162865
17 DTNBP1 NM_032122.4(DTNBP1): c.814C> T (p.Pro272Ser) single nucleotide variant Benign/Likely benign rs17470454 GRCh37 Chromosome 6, 15523448: 15523448
18 DTNBP1 NM_032122.4(DTNBP1): c.814C> T (p.Pro272Ser) single nucleotide variant Benign/Likely benign rs17470454 GRCh38 Chromosome 6, 15523217: 15523217
19 DTNBP1 NM_032122.4(DTNBP1): c.356-7C> T single nucleotide variant Benign rs3829893 GRCh37 Chromosome 6, 15615637: 15615637
20 DTNBP1 NM_032122.4(DTNBP1): c.356-7C> T single nucleotide variant Benign rs3829893 GRCh38 Chromosome 6, 15615406: 15615406
21 AP3B1 NM_003664.4(AP3B1): c.2409_2411delGAA (p.Lys804del) deletion Benign/Likely benign rs199702315 GRCh38 Chromosome 5, 78101012: 78101014
22 AP3B1 NM_003664.4(AP3B1): c.2409_2411delGAA (p.Lys804del) deletion Benign/Likely benign rs199702315 GRCh37 Chromosome 5, 77396836: 77396838
23 AP3B1 NM_003664.4(AP3B1): c.1969-10G> A single nucleotide variant Benign/Likely benign rs77009095 GRCh37 Chromosome 5, 77412068: 77412068
24 AP3B1 NM_003664.4(AP3B1): c.1969-10G> A single nucleotide variant Benign/Likely benign rs77009095 GRCh38 Chromosome 5, 78116244: 78116244
25 AP3B1 NM_003664.4(AP3B1): c.1683C> T (p.Leu561=) single nucleotide variant Benign/Likely benign rs17192146 GRCh37 Chromosome 5, 77425099: 77425099
26 AP3B1 NM_003664.4(AP3B1): c.1683C> T (p.Leu561=) single nucleotide variant Benign/Likely benign rs17192146 GRCh38 Chromosome 5, 78129275: 78129275
27 AP3B1 NM_003664.4(AP3B1): c.1038T> C (p.Asn346=) single nucleotide variant Benign rs4532349 GRCh37 Chromosome 5, 77473165: 77473165
28 AP3B1 NM_003664.4(AP3B1): c.1038T> C (p.Asn346=) single nucleotide variant Benign rs4532349 GRCh38 Chromosome 5, 78177341: 78177341
29 HPS6 NM_024747.5(HPS6): c.99A> G (p.Arg33=) single nucleotide variant Benign/Likely benign rs139591041 GRCh37 Chromosome 10, 103825330: 103825330
30 HPS6 NM_024747.5(HPS6): c.99A> G (p.Arg33=) single nucleotide variant Benign/Likely benign rs139591041 GRCh38 Chromosome 10, 102065573: 102065573
31 HPS6 NM_024747.5(HPS6): c.516G> A (p.Gly172=) single nucleotide variant Benign/Likely benign rs3737243 GRCh37 Chromosome 10, 103825747: 103825747
32 HPS6 NM_024747.5(HPS6): c.516G> A (p.Gly172=) single nucleotide variant Benign/Likely benign rs3737243 GRCh38 Chromosome 10, 102065990: 102065990
33 HPS1 NM_000195.4(HPS1): c.1397+8G> T single nucleotide variant Benign rs2296433 GRCh37 Chromosome 10, 100184062: 100184062
34 HPS1 NM_000195.4(HPS1): c.1397+8G> T single nucleotide variant Benign rs2296433 GRCh38 Chromosome 10, 98424305: 98424305
35 HPS1 NM_000195.4(HPS1): c.636C> T (p.Leu212=) single nucleotide variant Benign rs1801287 GRCh38 Chromosome 10, 98431163: 98431163
36 HPS1 NM_000195.4(HPS1): c.636C> T (p.Leu212=) single nucleotide variant Benign rs1801287 GRCh37 Chromosome 10, 100190920: 100190920
37 HPS1 NM_000195.4(HPS1): c.297C> T (p.Thr99=) single nucleotide variant Benign/Likely benign rs11539873 GRCh37 Chromosome 10, 100195130: 100195130
38 HPS1 NM_000195.4(HPS1): c.297C> T (p.Thr99=) single nucleotide variant Benign/Likely benign rs11539873 GRCh38 Chromosome 10, 98435373: 98435373
39 HPS1 NM_000195.4(HPS1): c.1599-15A> G single nucleotide variant Benign rs2296435 GRCh38 Chromosome 10, 98422528: 98422528
40 HPS1 NM_000195.4(HPS1): c.1599-15A> G single nucleotide variant Benign rs2296435 GRCh37 Chromosome 10, 100182285: 100182285
41 HPS1 NM_000195.4(HPS1): c.1397+7G> C single nucleotide variant Benign rs2296432 GRCh37 Chromosome 10, 100184063: 100184063
42 HPS1 NM_000195.4(HPS1): c.1397+7G> C single nucleotide variant Benign rs2296432 GRCh38 Chromosome 10, 98424306: 98424306
43 HPS1 NM_000195.4(HPS1): c.11T> C (p.Val4Ala) single nucleotide variant Benign/Likely benign rs58548334 GRCh37 Chromosome 10, 100202987: 100202987
44 HPS1 NM_000195.4(HPS1): c.11T> C (p.Val4Ala) single nucleotide variant Benign/Likely benign rs58548334 GRCh38 Chromosome 10, 98443230: 98443230
45 HPS5 NM_181507.1(HPS5): c.1249C> A (p.Leu417Met) single nucleotide variant Benign/Likely benign rs7128017 GRCh37 Chromosome 11, 18319180: 18319180
46 HPS5 NM_181507.1(HPS5): c.1249C> A (p.Leu417Met) single nucleotide variant Benign/Likely benign rs7128017 GRCh38 Chromosome 11, 18297633: 18297633
47 HPS5 NM_181507.1(HPS5): c.822C> A (p.Leu274=) single nucleotide variant Benign rs1140047 GRCh37 Chromosome 11, 18327684: 18327684
48 HPS5 NM_181507.1(HPS5): c.822C> A (p.Leu274=) single nucleotide variant Benign rs1140047 GRCh38 Chromosome 11, 18306137: 18306137
49 HPS5 NM_181507.1(HPS5): c.3058+9A> G single nucleotide variant Benign rs2049129 GRCh37 Chromosome 11, 18305333: 18305333
50 HPS5 NM_181507.1(HPS5): c.3058+9A> G single nucleotide variant Benign rs2049129 GRCh38 Chromosome 11, 18283786: 18283786

Expression for Hermansky-Pudlak Syndrome

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

Pathways for Hermansky-Pudlak Syndrome

Pathways related to Hermansky-Pudlak Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Lysosome hsa04142

Pathways related to Hermansky-Pudlak Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.84 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS4
2
Show member pathways
11.84 AP3B1 BLOC1S3 BLOC1S6 DTNBP1
3 11.01 AP3B1 AP3D1 CD63 LAMP2
4 9.65 TYR TYRP1

GO Terms for Hermansky-Pudlak Syndrome

Cellular components related to Hermansky-Pudlak Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.92 AP3B1 DTNBP1 HPS1 HPS4 LAMP2
2 endosome GO:0005768 9.89 BLOC1S6 CD63 DTNBP1 HPS6 LAMP2
3 lysosomal membrane GO:0005765 9.83 AP3B1 AP3D1 CD63 HPS6 LAMP2
4 endosome membrane GO:0010008 9.72 AP3D1 CD63 DTNBP1 LAMP2 TYRP1
5 melanosome GO:0042470 9.71 CD63 HPS4 TYR TYRP1
6 lysosome GO:0005764 9.63 CD63 HPS1 HPS4 HPS6 LAMP2 TYR
7 membrane coat GO:0030117 9.54 AP3B1 AP3D1
8 BLOC-1 complex GO:0031083 9.54 BLOC1S3 BLOC1S6 DTNBP1
9 AP-3 adaptor complex GO:0030123 9.51 AP3B1 AP3D1
10 platelet dense granule membrane GO:0031088 9.48 CD63 LAMP2
11 BLOC-3 complex GO:0031085 9.46 HPS1 HPS4
12 melanosome membrane GO:0033162 9.43 DTNBP1 TYR TYRP1
13 BLOC-2 complex GO:0031084 9.13 HPS3 HPS5 HPS6
14 axon cytoplasm GO:1904115 9.02 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1

Biological processes related to Hermansky-Pudlak Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.87 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS4 HPS5
2 anterograde axonal transport GO:0008089 9.77 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1
3 neuron projection development GO:0031175 9.75 BLOC1S3 BLOC1S6 DTNBP1
4 melanocyte differentiation GO:0030318 9.73 BLOC1S6 HPS4 HPS6 TYRP1
5 endosome to melanosome transport GO:0035646 9.71 AP3D1 BLOC1S3 BLOC1S6 CD63
6 anterograde synaptic vesicle transport GO:0048490 9.65 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1
7 protein targeting GO:0006605 9.61 HPS4 LAMP2
8 antigen processing and presentation GO:0019882 9.61 AP3B1 AP3D1
9 lysosome organization GO:0007040 9.6 HPS1 HPS4
10 melanosome transport GO:0032402 9.59 BLOC1S3 BLOC1S6
11 protein localization to membrane GO:0072657 9.58 AP3D1 HPS6
12 melanin biosynthetic process GO:0042438 9.57 TYR TYRP1
13 platelet dense granule organization GO:0060155 9.56 BLOC1S3 DTNBP1
14 positive regulation of natural killer cell activation GO:0032816 9.55 BLOC1S3 BLOC1S6
15 organelle organization GO:0006996 9.55 DTNBP1 HPS3 HPS4 HPS5 HPS6
16 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.54 AP3B1 AP3D1
17 melanosome assembly GO:1903232 9.52 HPS1 HPS4
18 secretion of lysosomal enzymes GO:0033299 9.51 BLOC1S3 BLOC1S6
19 eye pigment biosynthetic process GO:0006726 9.49 AP3D1 TYR
20 positive regulation of NK T cell differentiation GO:0051138 9.48 AP3B1 AP3D1
21 synaptic vesicle budding from endosome GO:0016182 9.46 AP3B1 AP3D1
22 melanosome organization GO:0032438 9.43 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 TYRP1
23 pigmentation GO:0043473 9.23 BLOC1S3 BLOC1S6 CD63 HPS3 HPS5 HPS6

Molecular functions related to Hermansky-Pudlak Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.73 BLOC1S3 BLOC1S6 CD63 DTNBP1 HPS1 HPS3
2 GTP-dependent protein binding GO:0030742 8.62 AP3B1 HPS6

Sources for Hermansky-Pudlak Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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