MCID: HRM001
MIFTS: 63

Hermansky-Pudlak Syndrome

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 Losartan have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and eye, 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 179)
# 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 34.7 BLOC1S6 CD63
4 hermansky-pudlak syndrome with pulmonary fibrosis 34.3 HPS1 HPS4
5 hermansky-pudlak syndrome without pulmonary fibrosis 33.9 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 7 13.0
18 hermansky-pudlak syndrome 8 13.0
19 hermansky-pudlak syndrome 10 12.9
20 isolated delta-storage pool disease 12.5
21 hantavirus pulmonary syndrome 12.2
22 pancreatitis, hereditary 11.9
23 hepatopulmonary syndrome 11.6
24 hemiparkinsonism-hemiatrophy syndrome 11.1
25 hypersensitivity pneumonitis, familial 11.0
26 bird fancier's lung 11.0
27 malt worker's lung 11.0
28 mushroom workers' lung 11.0
29 colitis 10.8
30 pneumonia 10.7
31 prostate cancer 10.7
32 lung disease 10.6
33 posttransplant acute limbic encephalitis 10.6
34 hemophagocytic lymphohistiocytosis 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 thrombasthenia 10.4
40 seizure disorder 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 retinitis pigmentosa 10.2
48 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.2
49 neuronal ceroid-lipofuscinoses 10.2
50 chronic kidney 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
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
3
Angiotensin II Approved, Investigational Phase 1, Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
4
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
5
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
6
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 441411 12560
7 Analgesics, Non-Narcotic Phase 2,Phase 1
8 Antirheumatic Agents Phase 2,Phase 1
9 Peripheral Nervous System Agents Phase 2,Phase 1
10 Analgesics Phase 2,Phase 1
11 Anti-Inflammatory Agents Phase 2,Phase 1
12 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
13 Free Radical Scavengers Phase 1, Phase 2
14 Anti-Bacterial Agents Phase 1, Phase 2
15 Antiviral Agents Phase 1, Phase 2
16 Lipoxygenase Inhibitors Phase 1, Phase 2
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
18 Antidotes Phase 1, Phase 2
19 Lipid Regulating Agents Phase 1, Phase 2
20 Anti-Arrhythmia Agents Phase 1, Phase 2
21 Pharmaceutical Solutions Phase 1, Phase 2
22 Hormone Antagonists Phase 1, Phase 2
23 Erythromycin Ethylsuccinate Phase 1, Phase 2
24 Angiotensin Receptor Antagonists Phase 1, Phase 2
25 Leukotriene Antagonists Phase 1, Phase 2
26 Hypolipidemic Agents Phase 1, Phase 2
27 Erythromycin Estolate Phase 1, Phase 2
28 Respiratory System Agents Phase 1, Phase 2
29 Gastrointestinal Agents Phase 1, Phase 2,Phase 2
30 Expectorants Phase 1, Phase 2
31 Antimetabolites Phase 1, Phase 2,Phase 2
32 Giapreza Phase 1, Phase 2
33 Anticholesteremic Agents Phase 1, Phase 2
34 Antihypertensive Agents Phase 1, Phase 2
35 Anti-Infective Agents Phase 1, Phase 2
36 Antioxidants Phase 1, Phase 2
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
38 Erythromycin stearate Phase 1, Phase 2
39 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
40 N-monoacetylcystine Phase 1, Phase 2
41 Hormones Phase 1, Phase 2
42 Angiotensinogen Phase 1, Phase 2
43 Protective Agents 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 Procurement and Analysis of Specimens From Individuals With Pulmonary Fibrosis Recruiting NCT00084305
8 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, Prostate, Eye, Lung, Kidney, Retina, Heart

Publications for Hermansky-Pudlak Syndrome

Articles related to Hermansky-Pudlak Syndrome:

(show top 50) (show all 492)
# 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
Coexistence of Hermansky-Pudlak syndrome and JAK2V617F-positive essential thrombocythemia. ( 30932722 )
2019
4
Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature. ( 30974211 )
2019
5
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. ( 30387913 )
2019
6
Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells. ( 30630984 )
2019
7
Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report. ( 30634918 )
2019
8
Bleeding assessment in female patients with the Hermansky-Pudlak syndrome-A case series. ( 30659653 )
2019
9
Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids. ( 30710063 )
2019
10
Unilateral retinoblastoma in a patient with Hermansky-Pudlak syndrome. ( 30712445 )
2019
11
In Vitro Disease Modeling of Hermansky-Pudlak Syndrome Type 2 Using Human Induced Pluripotent Stem Cell-Derived Alveolar Organoids. ( 30773483 )
2019
12
The road to LROs: insights into lysosome-related organelles from Hermansky-Pudlak syndrome and other rare diseases. ( 30945407 )
2019
13
Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations In Context. ( 30985222 )
2019
14
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing. ( 30990103 )
2019
15
In Vitro Characterization of Hypoxia Preconditioned Serum (HPS)-Fibrin Hydrogels: Basis for an Injectable Biomimetic Tissue Regeneration Therapy. ( 31086048 )
2019
16
Validation of the Hypomanic Personality Scale (HPS) in Iranian adolescents. ( 30320449 )
2019
17
Cyclooxygenase-2 regulates HPS patient serum induced-directional collective HPMVEC migration via PKC/Rac signaling pathway. ( 30660713 )
2019
18
Arterial blood gas changes during cardiac arrest and cardiopulmonary resuscitation combined with passive oxygenation/ventilation: a METI HPS study. ( 30185100 )
2018
19
Variant of rare Hermansky - Pudlak syndrome associated with granulomatous colitis: diagnostics, clinical course and treatment. ( 29600982 )
2018
20
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. ( 29054114 )
2018
21
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
22
A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4. ( 29108692 )
2018
23
Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease. ( 29427412 )
2018
24
Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation. ( 29547626 )
2018
25
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood. ( 29580292 )
2018
26
Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases. ( 29941477 )
2018
27
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis. ( 30055995 )
2018
28
Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome. ( 30317187 )
2018
29
Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder. ( 30472485 )
2018
30
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
31
Faculty Experiences with Integrating Mandated High-Fidelity Human Patient Simulation (HF-HPS) Into Clinical Practice: A Phenomenological Study. ( 29397385 )
2018
32
Hysteretic Photochromic Switching (HPS) in Doubly Doped GaN(Mg):Eu-A Summary of Recent Results. ( 30248983 )
2018
33
Spectroscopy of the electronic excited states of thioxophosphane, HPS, and of its deuterated species. ( 30384700 )
2018
34
Does Prostate Median Lobe Really Matter for GreenLight HPS Laser Photovaporization of the Prostate. ( 30426077 )
2018
35
Pathogenicity and molecular characterization of a fowl adenovirus 4 isolated from chicken associated with IBH and HPS in China. ( 30547794 )
2018
36
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 )
2017
37
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. ( 28289846 )
2017
38
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2017
39
Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype. ( 28144619 )
2017
40
Differential diagnosis of hepatopulmonary syndrome (HPS): Portopulmonary hypertension (PPH) and hereditary hemorrhagic telangiectasia (HHT). ( 28759737 )
2017
41
The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome. ( 27358286 )
2017
42
no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development. ( 27595926 )
2017
43
Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome. ( 27766632 )
2017
44
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. ( 27917594 )
2017
45
Erratum: Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. ( 28035873 )
2017
46
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. ( 28259707 )
2017
47
Novel mutation in two brothers with Hermansky Pudlak syndrome type 3. ( 28284561 )
2017
48
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. ( 28296950 )
2017
49
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9. ( 28475864 )
2017
50
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. ( 28585318 )
2017

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 rs281865082 GRCh38 Chromosome 10, 98427230: 98427230
4 HPS1 NM_000195.4(HPS1): c.972dupC (p.Met325Hisfs) duplication Pathogenic rs281865082 GRCh37 Chromosome 10, 100186987: 100186987
5 HPS1 NM_000195.3(HPS1): c.1189delC (p.Gln397Serfs) deletion Likely pathogenic rs281865084 GRCh37 Chromosome 10, 100185444: 100185444
6 HPS1 NM_000195.3(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:

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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