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 76 24 53 25 59 37 29 55 6 15 40
Hps 12 53 25 59
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 53 73
Hermanski-Pudlak Syndrome 44 73
Platelet Storage Pool Deficiency 73
Delta Storage Pool Disease 53
Hermansky Pudlak Syndrome 53
Hermanskypudlak Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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 Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and prostate, and related phenotypes are nystagmus and cataract

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 : 25 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 : 76 He�?manský�??Pudlák syndrome (often written Hermansky�??Pudlak syndrome or abbreviated HPS) is an... 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 142)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 6 34.7 HPS5 HPS6
2 hermansky-pudlak syndrome 5 34.6 HPS5 HPS6
3 hermansky-pudlak syndrome 9 34.6 BLOC1S6 CD63
4 hermansky-pudlak syndrome with pulmonary fibrosis 34.1 HPS1 HPS4
5 hermansky-pudlak syndrome 1 34.1 AP3B1 DTNBP1 HPS1 HPS4 TYR
6 hermansky-pudlak syndrome 3 33.8 HPS3 HPS5 HPS6 TYR TYRP1
7 hermansky-pudlak syndrome without pulmonary fibrosis 33.7 HPS3 HPS5 HPS6
8 storage pool platelet disease 32.3 AP3B1 BLOC1S3 BLOC1S6 HPS3 HPS4 HPS6
9 albinism, oculocutaneous, type ib 31.9 TYR TYRP1
10 pulmonary fibrosis 31.3 HPS1 HPS3 HPS4 HPS5 HPS6
11 chediak-higashi syndrome 30.5 HPS1 TYR TYRP1
12 albinism 30.4 AP3D1 BLOC1S3 HPS1 HPS4 TYR TYRP1
13 albinism, oculocutaneous, type ia 30.0 TYR TYRP1
14 oculocutaneous albinism 29.4 AP3B1 BLOC1S3 BLOC1S6 CD63 HPS1 HPS3
15 hermansky-pudlak syndrome 2 13.0
16 hermansky-pudlak syndrome 4 12.9
17 hermansky-pudlak syndrome 8 12.9
18 hermansky-pudlak syndrome 7 12.8
19 hermansky-pudlak syndrome 10 12.8
20 isolated delta-storage pool disease 12.5
21 hantavirus pulmonary syndrome 12.1
22 pancreatitis, hereditary 11.7
23 extrinsic allergic alveolitis 11.7
24 hepatopulmonary syndrome 11.6
25 hemiparkinsonism-hemiatrophy syndrome 11.0
26 hypersensitivity pneumonitis, familial 10.9
27 bird fancier's lung 10.9
28 malt worker's lung 10.9
29 mushroom workers' lung 10.9
30 maple bark strippers' lung 10.9
31 colitis 10.8
32 pneumonia 10.7
33 lung disease 10.6
34 prostate cancer 10.5
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 systemic lupus erythematosus 10.2
43 schizophrenia 10.2
44 bernard-soulier syndrome 10.2
45 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.2
46 neuronal ceroid-lipofuscinoses 10.2
47 chronic kidney failure 10.2
48 end stage renal failure 10.2
49 glomerulonephritis 10.2
50 pulmonary sarcoidosis 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:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
3 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
4 abnormality of visual evoked potentials 59 32 frequent (33%) Frequent (79-30%) HP:0000649
5 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
6 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
7 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
8 pulmonary fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0002206
9 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
10 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
11 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
12 hyperkeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000962
13 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
14 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
15 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
16 melanocytic nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000995
17 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
18 anorexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002039
19 hypopigmentation of hair 59 32 frequent (33%) Frequent (79-30%) HP:0005599
20 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
21 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
22 amblyopia 59 32 frequent (33%) Frequent (79-30%) HP:0000646
23 epistaxis 59 32 frequent (33%) Frequent (79-30%) HP:0000421
24 neutropenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001875
25 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
26 long eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000527
27 ocular albinism 59 32 frequent (33%) Frequent (79-30%) HP:0001107
28 astigmatism 59 32 frequent (33%) Frequent (79-30%) HP:0000483
29 partial albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0007443
30 squamous cell carcinoma of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0006739
31 menometrorrhagia 59 32 frequent (33%) Frequent (79-30%) HP:0400008
32 abnormality of the optic nerve 59 32 frequent (33%) Frequent (79-30%) HP:0000587
33 basal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002671
34 visual impairment 59 Occasional (29-5%)
35 abnormal bleeding 59 Very frequent (99-80%)
36 abnormality of thrombocytes 59 Occasional (29-5%)
37 thickened skin 59 Occasional (29-5%)
38 iris hypopigmentation 59 Very frequent (99-80%)
39 hypopigmentation of the skin 59 Very frequent (99-80%)
40 abnormal thrombocyte morphology 32 occasional (7.5%) HP:0001872

UMLS symptoms related to Hermansky-Pudlak Syndrome:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.31 AP3B1 AP3D1 BLOC1S4 BLOC1S5 BLOC1S6 CD63
2 hematopoietic system MP:0005397 10.3 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
3 behavior/neurological MP:0005386 10.29 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
4 cellular MP:0005384 10.26 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
5 hearing/vestibular/ear MP:0005377 10.26 AP3B1 AP3D1 BLOC1S3 BLOC1S5 BLOC1S6 DTNBP1
6 growth/size/body region MP:0005378 10.24 AP3B1 AP3D1 BLOC1S3 BLOC1S6 HPS1 HPS4
7 integument MP:0010771 10.24 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
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 10.14 AP3B1 BLOC1S3 BLOC1S5 BLOC1S6 DTNBP1 HPS1
11 pigmentation MP:0001186 10 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
12 limbs/digits/tail MP:0005371 9.8 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS5 TYR
13 no phenotypic analysis MP:0003012 9.73 AP3B1 BLOC1S5 HPS1 HPS3 HPS5 TYR
14 renal/urinary system MP:0005367 9.73 AP3B1 AP3D1 BLOC1S4 BLOC1S5 BLOC1S6 CD63
15 vision/eye MP:0005391 9.47 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6

Drugs & Therapeutics for Hermansky-Pudlak Syndrome

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

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

Anatomical Context for Hermansky-Pudlak Syndrome

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome:

41
Skin, Eye, Prostate, Kidney, Retina, Lung, Brain

Publications for Hermansky-Pudlak Syndrome

Articles related to Hermansky-Pudlak Syndrome:

(show top 50) (show all 447)
# Title Authors Year
1
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. ( 29054114 )
2018
2
Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease. ( 29427412 )
2018
3
Hermansky-Pudlak syndrome with a novel genetic variant in <i>HPS1</i> and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases. ( 29941477 )
2018
4
Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation. ( 29547626 )
2018
5
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood. ( 29580292 )
2018
6
A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4. ( 29108692 )
2018
7
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
8
Arterial blood gas changes during cardiac arrest and cardiopulmonary resuscitation combined with passive oxygenation/ventilation: a METI HPS study. ( 30185100 )
2018
9
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis. ( 30055995 )
2018
10
Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome. ( 30317187 )
2018
11
Instability of BLOC-2 and BLOC-3 in Chinese Patients with Hermansky-Pudlak Syndrome. ( 30387913 )
2018
12
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder. ( 30472485 )
2018
13
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
14
Faculty Experiences with Integrating Mandated High-Fidelity Human Patient Simulation (HF-HPS) Into Clinical Practice: A Phenomenological Study. ( 29397385 )
2018
15
Hysteretic Photochromic Switching (HPS) in Doubly Doped GaN(Mg):Eu-A Summary of Recent Results. ( 30248983 )
2018
16
Validation of the Hypomanic Personality Scale (HPS) in Iranian adolescents. ( 30320449 )
2018
17
Spectroscopy of the electronic excited states of thioxophosphane, HPS, and of its deuterated species. ( 30384700 )
2018
18
Does Prostate Median Lobe Really Matter for GreenLight HPS Laser Photovaporization of the Prostate. ( 30426077 )
2018
19
Pathogenicity and molecular characterization of a fowl adenovirus 4 isolated from chicken associated with IBH and HPS in China. ( 30547794 )
2018
20
Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype. ( 28144619 )
2017
21
Novel mutation in two brothers with Hermansky Pudlak syndrome type 3. ( 28284561 )
2017
22
Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome. ( 27766632 )
2017
23
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. ( 28585318 )
2017
24
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9. ( 28475864 )
2017
25
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. ( 28259707 )
2017
26
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. ( 28296950 )
2017
27
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. ( 28289846 )
2017
28
Erratum: Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. ( 28035873 )
2017
29
Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations. ( 29044644 )
2017
30
The ET-1-mediated carbonylation and degradation of ANXA1 induce inflammatory phenotype and proliferation of pulmonary artery smooth muscle cells in HPS. ( 28414743 )
2017
31
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
32
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. ( 28640947 )
2017
33
Genetic variants and phylogenetic analysis of Haemophilus parasuis (HPS) OMPP2 detected in Sichuan, China from 2013 to 2015. ( 28824043 )
2017
34
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
35
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
36
Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis. ( 27459687 )
2016
37
Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky-Pudlak syndrome. ( 26839694 )
2016
38
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula. ( 26785811 )
2016
39
Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. ( 27333462 )
2016
40
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. ( 27917594 )
2016
41
Hermansky-Pudlak syndrome in pregnancy: A case report. ( 27829879 )
2016
42
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
43
Management of Hermansky-Pudlak syndrome in pregnancy and review of literature. ( 27856532 )
2016
44
no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development. ( 27595926 )
2016
45
Epithelial-macrophage interactions determine pulmonary fibrosis susceptibility in Hermansky-Pudlak syndrome. ( 27777976 )
2016
46
Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs). ( 27345974 )
2016
47
Case of Japanese Hermansky-Pudlak syndrome patient with deeply invasive squamous cell carcinoma and multiple lesions of actinic keratosis on the face and neck. ( 27178242 )
2016
48
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. ( 26744459 )
2016
49
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family. ( 27942505 )
2016
50
The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome. ( 27358286 )
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 HPS1 NM_000195.4(HPS1): c.1472_1487dup16 (p.His497Glnfs) duplication Pathogenic rs281865163 GRCh37 Chromosome 10, 100183555: 100183570
2 HPS1 NM_000195.4(HPS1): c.1472_1487dup16 (p.His497Glnfs) duplication Pathogenic rs281865163 GRCh38 Chromosome 10, 98423798: 98423813
3 HPS1 NM_000195.4(HPS1): c.972dupC (p.Met325Hisfs) duplication Pathogenic rs281865083 GRCh38 Chromosome 10, 98427230: 98427230
4 HPS1 NM_000195.4(HPS1): c.972dupC (p.Met325Hisfs) duplication Pathogenic rs281865083 GRCh37 Chromosome 10, 100186987: 100186987
5 HPS1 NM_000195.4(HPS1): c.1189delC (p.Gln397Serfs) deletion Likely pathogenic rs281865084 GRCh37 Chromosome 10, 100185444: 100185444
6 HPS1 NM_000195.4(HPS1): c.1189delC (p.Gln397Serfs) deletion Likely pathogenic rs281865084 GRCh38 Chromosome 10, 98425687: 98425687
7 HPS1 NM_000195.4(HPS1): c.1472C> G (p.Pro491Arg) single nucleotide variant Benign/Likely benign rs2296434 GRCh37 Chromosome 10, 100183570: 100183570
8 HPS1 NM_000195.4(HPS1): c.1472C> G (p.Pro491Arg) single nucleotide variant Benign/Likely benign rs2296434 GRCh38 Chromosome 10, 98423813: 98423813
9 HPS1 NM_000195.4(HPS1): c.1808A> G (p.Gln603Arg) single nucleotide variant Benign/Likely benign rs2296436 GRCh37 Chromosome 10, 100179851: 100179851
10 HPS1 NM_000195.4(HPS1): c.1808A> G (p.Gln603Arg) single nucleotide variant Benign/Likely benign rs2296436 GRCh38 Chromosome 10, 98420094: 98420094
11 HPS1 NM_000195.4(HPS1): c.847G> T (p.Gly283Trp) single nucleotide variant Benign/Likely benign rs11592273 GRCh37 Chromosome 10, 100189568: 100189568
12 HPS1 NM_000195.4(HPS1): c.847G> T (p.Gly283Trp) single nucleotide variant Benign/Likely benign rs11592273 GRCh38 Chromosome 10, 98429811: 98429811
13 HPS5 NM_181507.1(HPS5): c.3293C> T (p.Thr1098Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61884288 GRCh37 Chromosome 11, 18303533: 18303533
14 HPS5 NM_181507.1(HPS5): c.3293C> T (p.Thr1098Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs61884288 GRCh38 Chromosome 11, 18281986: 18281986
15 CP; HPS3 NM_000096.3(CP): c.2991T> C (p.His997=) single nucleotide variant Benign/Likely benign rs34394958 GRCh37 Chromosome 3, 148895654: 148895654
16 CP; HPS3 NM_000096.3(CP): c.2991T> C (p.His997=) single nucleotide variant Benign/Likely benign rs34394958 GRCh38 Chromosome 3, 149177867: 149177867
17 CP; HPS3 NM_000096.3(CP): c.3182-4A> G single nucleotide variant Benign/Likely benign rs34272112 GRCh37 Chromosome 3, 148891521: 148891521
18 CP; HPS3 NM_000096.3(CP): c.3182-4A> G single nucleotide variant Benign/Likely benign rs34272112 GRCh38 Chromosome 3, 149173734: 149173734
19 HPS3 NM_032383.4(HPS3): c.981A> G (p.Thr327=) single nucleotide variant Benign rs11718908 GRCh38 Chromosome 3, 149145364: 149145364
20 HPS3 NM_032383.4(HPS3): c.981A> G (p.Thr327=) single nucleotide variant Benign rs11718908 GRCh37 Chromosome 3, 148863151: 148863151
21 HPS3 NM_032383.4(HPS3): c.1494G> A (p.Gln498=) single nucleotide variant Benign rs6440589 GRCh37 Chromosome 3, 148872987: 148872987
22 HPS3 NM_032383.4(HPS3): c.1494G> A (p.Gln498=) single nucleotide variant Benign rs6440589 GRCh38 Chromosome 3, 149155200: 149155200
23 HPS3 NM_032383.4(HPS3): c.970+7A> G single nucleotide variant Benign/Likely benign rs114029765 GRCh38 Chromosome 3, 149141387: 149141387
24 HPS3 NM_032383.4(HPS3): c.970+7A> G single nucleotide variant Benign/Likely benign rs114029765 GRCh37 Chromosome 3, 148859174: 148859174
25 HPS3 NM_032383.4(HPS3): c.1479G> A (p.Thr493=) single nucleotide variant Benign/Likely benign rs34197730 GRCh38 Chromosome 3, 149155185: 149155185
26 HPS3 NM_032383.4(HPS3): c.1479G> A (p.Thr493=) single nucleotide variant Benign/Likely benign rs34197730 GRCh37 Chromosome 3, 148872972: 148872972
27 HPS3 NM_032383.4(HPS3): c.2526C> T (p.His842=) single nucleotide variant Benign rs3732557 GRCh37 Chromosome 3, 148881673: 148881673
28 HPS3 NM_032383.4(HPS3): c.2526C> T (p.His842=) single nucleotide variant Benign rs3732557 GRCh38 Chromosome 3, 149163886: 149163886
29 AP3B1 NM_003664.4(AP3B1): c.2016T> C (p.Ala672=) single nucleotide variant Benign rs42360 GRCh37 Chromosome 5, 77412011: 77412011
30 AP3B1 NM_003664.4(AP3B1): c.2016T> C (p.Ala672=) single nucleotide variant Benign rs42360 GRCh38 Chromosome 5, 78116187: 78116187
31 AP3B1 NM_003664.4(AP3B1): c.1754T> A (p.Val585Glu) single nucleotide variant Benign rs6453373 GRCh37 Chromosome 5, 77425028: 77425028
32 AP3B1 NM_003664.4(AP3B1): c.1754T> A (p.Val585Glu) single nucleotide variant Benign rs6453373 GRCh38 Chromosome 5, 78129204: 78129204
33 AP3B1 NM_003664.4(AP3B1): c.1317T> G (p.Thr439=) single nucleotide variant Conflicting interpretations of pathogenicity rs75248449 GRCh38 Chromosome 5, 78162865: 78162865
34 AP3B1 NM_003664.4(AP3B1): c.1317T> G (p.Thr439=) single nucleotide variant Conflicting interpretations of pathogenicity rs75248449 GRCh37 Chromosome 5, 77458689: 77458689
35 DTNBP1 NM_032122.4(DTNBP1): c.814C> T (p.Pro272Ser) single nucleotide variant Benign/Likely benign rs17470454 GRCh37 Chromosome 6, 15523448: 15523448
36 DTNBP1 NM_032122.4(DTNBP1): c.814C> T (p.Pro272Ser) single nucleotide variant Benign/Likely benign rs17470454 GRCh38 Chromosome 6, 15523217: 15523217
37 DTNBP1 NM_032122.4(DTNBP1): c.356-7C> T single nucleotide variant Benign rs3829893 GRCh37 Chromosome 6, 15615637: 15615637
38 DTNBP1 NM_032122.4(DTNBP1): c.356-7C> T single nucleotide variant Benign rs3829893 GRCh38 Chromosome 6, 15615406: 15615406
39 AP3B1 NM_003664.4(AP3B1): c.2409_2411delGAA (p.Lys804del) deletion Benign/Likely benign rs199702315 GRCh38 Chromosome 5, 78101012: 78101014
40 AP3B1 NM_003664.4(AP3B1): c.2409_2411delGAA (p.Lys804del) deletion Benign/Likely benign rs199702315 GRCh37 Chromosome 5, 77396836: 77396838
41 AP3B1 NM_003664.4(AP3B1): c.1969-10G> A single nucleotide variant Benign/Likely benign rs77009095 GRCh38 Chromosome 5, 78116244: 78116244
42 AP3B1 NM_003664.4(AP3B1): c.1969-10G> A single nucleotide variant Benign/Likely benign rs77009095 GRCh37 Chromosome 5, 77412068: 77412068
43 AP3B1 NM_003664.4(AP3B1): c.1683C> T (p.Leu561=) single nucleotide variant Benign/Likely benign rs17192146 GRCh38 Chromosome 5, 78129275: 78129275
44 AP3B1 NM_003664.4(AP3B1): c.1683C> T (p.Leu561=) single nucleotide variant Benign/Likely benign rs17192146 GRCh37 Chromosome 5, 77425099: 77425099
45 AP3B1 NM_003664.4(AP3B1): c.1038T> C (p.Asn346=) single nucleotide variant Benign rs4532349 GRCh38 Chromosome 5, 78177341: 78177341
46 AP3B1 NM_003664.4(AP3B1): c.1038T> C (p.Asn346=) single nucleotide variant Benign rs4532349 GRCh37 Chromosome 5, 77473165: 77473165
47 HPS6 NM_024747.5(HPS6): c.99A> G (p.Arg33=) single nucleotide variant Benign/Likely benign rs139591041 GRCh37 Chromosome 10, 103825330: 103825330
48 HPS6 NM_024747.5(HPS6): c.99A> G (p.Arg33=) single nucleotide variant Benign/Likely benign rs139591041 GRCh38 Chromosome 10, 102065573: 102065573
49 HPS6 NM_024747.5(HPS6): c.516G> A (p.Gly172=) single nucleotide variant Benign/Likely benign rs3737243 GRCh37 Chromosome 10, 103825747: 103825747
50 HPS6 NM_024747.5(HPS6): c.516G> A (p.Gly172=) single nucleotide variant Benign/Likely benign rs3737243 GRCh38 Chromosome 10, 102065990: 102065990

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:

37
# 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
12.91 AP3B1 BLOC1S3 BLOC1S4 BLOC1S6 DTNBP1 HPS1
2
Show member pathways
11.4 AP3B1 BLOC1S3 BLOC1S4 BLOC1S6 DTNBP1
3 11.35 AP3B1 AP3D1 CD63 LAMP2
4 9.85 TYR TYRP1

GO Terms for Hermansky-Pudlak Syndrome

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.93 AP3B1 DTNBP1 HPS1 HPS4 LAMP2
2 endosome GO:0005768 9.91 BLOC1S6 CD63 DTNBP1 HPS6 LAMP2
3 lysosomal membrane GO:0005765 9.85 AP3B1 AP3D1 CD63 HPS6 LAMP2
4 endosome membrane GO:0010008 9.77 AP3D1 CD63 DTNBP1 LAMP2 TYRP1
5 lysosome GO:0005764 9.73 CD63 HPS1 HPS4 HPS6 LAMP2 TYR
6 melanosome GO:0042470 9.71 CD63 HPS4 TYR TYRP1
7 transport vesicle GO:0030133 9.7 BLOC1S3 BLOC1S5 BLOC1S6
8 membrane coat GO:0030117 9.55 AP3B1 AP3D1
9 melanosome membrane GO:0033162 9.5 DTNBP1 TYR TYRP1
10 AP-3 adaptor complex GO:0030123 9.49 AP3B1 AP3D1
11 platelet dense granule membrane GO:0031088 9.48 CD63 LAMP2
12 BLOC-3 complex GO:0031085 9.43 HPS1 HPS4
13 BLOC-1 complex GO:0031083 9.35 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6 DTNBP1
14 BLOC-2 complex GO:0031084 9.33 HPS3 HPS5 HPS6
15 axon cytoplasm GO:1904115 9.17 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
16 cytosol GO:0005829 10.26 BLOC1S3 BLOC1S4 BLOC1S6 DTNBP1 HPS1 HPS3

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.95 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS4 HPS5
2 melanosome organization GO:0032438 9.86 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
3 neuron projection development GO:0031175 9.85 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6 DTNBP1
4 organelle organization GO:0006996 9.77 DTNBP1 HPS3 HPS4 HPS5 HPS6
5 pigmentation GO:0043473 9.76 BLOC1S3 BLOC1S6 CD63 HPS3 HPS5 HPS6
6 melanocyte differentiation GO:0030318 9.73 BLOC1S6 HPS4 HPS6 TYRP1
7 endosome to melanosome transport GO:0035646 9.72 AP3D1 BLOC1S3 BLOC1S5 BLOC1S6 CD63
8 melanosome transport GO:0032402 9.65 BLOC1S3 BLOC1S5 BLOC1S6
9 lysosome organization GO:0007040 9.61 HPS1 HPS4
10 protein localization to membrane GO:0072657 9.6 AP3D1 HPS6
11 melanin biosynthetic process GO:0042438 9.59 TYR TYRP1
12 platelet dense granule organization GO:0060155 9.58 BLOC1S3 DTNBP1
13 positive regulation of natural killer cell activation GO:0032816 9.58 BLOC1S3 BLOC1S6
14 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.57 AP3B1 AP3D1
15 melanosome assembly GO:1903232 9.56 HPS1 HPS4
16 secretion of lysosomal enzymes GO:0033299 9.55 BLOC1S3 BLOC1S6
17 eye pigment biosynthetic process GO:0006726 9.54 AP3D1 TYR
18 positive regulation of NK T cell differentiation GO:0051138 9.52 AP3B1 AP3D1
19 positive regulation of pigment cell differentiation GO:0050942 9.51 BLOC1S5 BLOC1S6
20 anterograde axonal transport GO:0008089 9.5 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
21 synaptic vesicle budding from endosome GO:0016182 9.49 AP3B1 AP3D1
22 anterograde synaptic vesicle transport GO:0048490 9.17 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6

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 9.47 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6 CD63 DTNBP1
2 GTP-dependent protein binding GO:0030742 8.96 AP3B1 HPS6

Sources for Hermansky-Pudlak Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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