HPS
MCID: HRM001
MIFTS: 64

Hermansky-Pudlak Syndrome (HPS)

Categories: Blood 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 74 24 52 25 58 36 29 54 6 15 39
Hps 52 25 58
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 52 71
Hermanski-Pudlak Syndrome 43 71
Platelet Storage Pool Deficiency 71
Delta Storage Pool Disease 52
Hermansky Pudlak Syndrome 52

Characteristics:

Orphanet epidemiological data:

58
hermansky-pudlak syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
Rare haematological diseases


Summaries for Hermansky-Pudlak Syndrome

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. People with Hermansky-Pudlak syndrome also have problems with blood clotting (coagulation) that lead to easy bruising and prolonged bleeding. Some individuals with Hermansky-Pudlak syndrome develop breathing problems due to a lung disease called pulmonary fibrosis, which causes scar tissue to form in the lungs. The symptoms of pulmonary fibrosis usually appear during an individual's early thirties and rapidly worsen. Individuals with Hermansky-Pudlak syndrome who develop pulmonary fibrosis often do not live for more than a decade after they begin to experience breathing problems. Other, less common features of Hermansky-Pudlak syndrome include inflammation of the large intestine (granulomatous colitis) and kidney failure. 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 of the disorder. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms. 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 2 and hermansky-pudlak syndrome 9, 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 Erythromycin have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and eye, and related phenotypes are immunodeficiency and nystagmus

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

NIH Rare Diseases : 52 Hermansky-Pudlak syndrome (HPS) affects multiple body systems and includes bleeding and visual problems, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism ). Other symptoms may include immune problems, lung scarring (pulmonary fibrosis ), and colitis . Symptoms of pulmonary fibrosis may get worse over time, and people with HPS are at increased risk for skin cancer . There are ten types of HPS each caused by a different non-working gene . This condition is inherited in an autosomal recessive fashion. HPS is diagnosed based on the symptoms and confirmed by genetic testing . Treatment is based on managing the symptoms.

KEGG : 36 Hermansky-Pudlak syndrome (HPS) is a group of autosomal recessive disorders caused by defects in lysosome-related organelles and characterized by albinism and prolonged bleeding.

Wikipedia : 74 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 401)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 2 35.6 HPS3 CD63 AP3M1 AP3B1
2 hermansky-pudlak syndrome 9 35.6 HPS4 BLOC1S6 BLOC1S4
3 hermansky-pudlak syndrome 1 35.5 LOC100500719 HPS4 HPS1 DTNBP1 AP3B1
4 hermansky-pudlak syndrome 3 35.5 HPS6 HPS5 HPS3
5 hermansky-pudlak syndrome 5 35.5 HPS6 HPS5 BLOC1S4 BLOC1S1
6 hermansky-pudlak syndrome 6 35.5 HPS6 HPS5
7 hermansky-pudlak syndrome without pulmonary fibrosis 34.9 HPS6 HPS5 HPS3
8 hermansky-pudlak syndrome with pulmonary fibrosis 34.9 HPS4 HPS1
9 storage pool platelet disease 33.5 SNAPIN HPS6 HPS5 HPS4 HPS3 DTNBP1
10 albinism, oculocutaneous, type ib 33.2 TYRP1 TYR BLOC1S3
11 albinism 33.1 TYRP1 TYR HPS4 HPS1
12 pulmonary fibrosis 32.8 HPS6 HPS5 HPS4 HPS3 HPS1
13 oculocutaneous albinism 32.5 TYRP1 TYR HPS6 HPS5 HPS4 HPS3
14 pathologic nystagmus 32.1 TYRP1 TYR HPS6 HPS5 HPS3 BLOC1S3
15 ocular albinism 31.9 TYRP1 TYR HPS6 HPS5 HPS4 AP3D1
16 chediak-higashi syndrome 31.8 TYRP1 TYR HPS1 CD63 BLOC1S1 AP3B1
17 syndromic oculocutaneous albinism 31.5 HPS6 CD63
18 albinism, oculocutaneous, type ii 31.4 TYRP1 TYR HPS6 HPS5 HPS4 HPS3
19 albinism, oculocutaneous, type ia 31.2 TYRP1 TYR HPS3 BLOC1S3
20 albinism, oculocutaneous, type iv 31.2 TYRP1 TYR HPS6 BLOC1S3
21 exotropia 30.9 HPS3 BLOC1S3
22 hermansky-pudlak syndrome 4 13.1
23 hermansky-pudlak syndrome 7 13.1
24 hermansky-pudlak syndrome 8 13.1
25 hermansky-pudlak syndrome 10 13.0
26 isolated delta-storage pool disease 12.6
27 hantavirus pulmonary syndrome 12.4
28 extrinsic allergic alveolitis 12.1
29 pancreatitis, hereditary 11.9
30 lysosomal storage disease 11.9
31 hepatopulmonary syndrome 11.7
32 autosomal recessive disease 11.2
33 hemiparkinsonism-hemiatrophy syndrome 11.2
34 hypersensitivity pneumonitis, familial 11.1
35 hyperprolinemia 11.1
36 primary hyperoxaluria 11.1
37 lung disease 11.0
38 posttransplant acute limbic encephalitis 10.9
39 fibrosis of extraocular muscles, congenital, 1 10.8
40 colitis 10.8
41 neutropenia 10.8
42 crohn's disease 10.8
43 inflammatory bowel disease 10.7
44 interstitial lung disease 10.7
45 pneumonia 10.7
46 pulmonary fibrosis, idiopathic 10.7
47 respiratory failure 10.7
48 prostate cancer 10.7
49 ceroid storage disease 10.6
50 enterocolitis 10.6

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:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 neutropenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001875
4 partial albinism 58 31 hallmark (90%) Very frequent (99-80%) HP:0007443
5 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
6 abnormality of visual evoked potentials 58 31 frequent (33%) Frequent (79-30%) HP:0000649
7 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
8 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
9 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
10 pulmonary fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0002206
11 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
12 hypopigmentation of hair 58 31 frequent (33%) Frequent (79-30%) HP:0005599
13 amblyopia 58 31 frequent (33%) Frequent (79-30%) HP:0000646
14 epistaxis 58 31 frequent (33%) Frequent (79-30%) HP:0000421
15 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
16 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
17 ocular albinism 58 31 frequent (33%) Frequent (79-30%) HP:0001107
18 abnormality of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0000587
19 menometrorrhagia 58 31 frequent (33%) Frequent (79-30%) HP:0400008
20 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
21 fatigue 58 31 occasional (7.5%) Occasional (29-5%) HP:0012378
22 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
23 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
24 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
25 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
26 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
27 melanocytic nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000995
28 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
29 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
30 long eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000527
31 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
32 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
33 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
34 abnormal thrombocyte morphology 31 occasional (7.5%) HP:0001872
35 visual impairment 58 Occasional (29-5%)
36 thickened skin 58 Occasional (29-5%)
37 abnormality of thrombocytes 58 Occasional (29-5%)
38 abnormal bleeding 58 Very frequent (99-80%)
39 iris hypopigmentation 58 Very frequent (99-80%)
40 hypopigmentation of the skin 58 Very frequent (99-80%)

UMLS symptoms related to Hermansky-Pudlak Syndrome:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 AP3B1 AP3D1 BLOC1S1 BLOC1S3 BLOC1S4 BLOC1S5
2 homeostasis/metabolism MP:0005376 10.31 AP3B1 AP3D1 BLOC1S1 BLOC1S4 BLOC1S5 BLOC1S6
3 behavior/neurological MP:0005386 10.3 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
4 hematopoietic system MP:0005397 10.28 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
5 hearing/vestibular/ear MP:0005377 10.2 AP3B1 AP3D1 BLOC1S3 BLOC1S5 BLOC1S6 HPS1
6 integument MP:0010771 10.2 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
7 cardiovascular system MP:0005385 10.16 AP3B1 BLOC1S6 HPS1 HPS4 HPS5 HPS6
8 craniofacial MP:0005382 10.13 AP3B1 BLOC1S3 HPS1 HPS4 HPS5 HPS6
9 immune system MP:0005387 10.11 AP3B1 BLOC1S3 BLOC1S5 BLOC1S6 DTNBP1 HPS1
10 pigmentation MP:0001186 10.03 AP3B1 AP3D1 BLOC1S1 BLOC1S3 BLOC1S4 BLOC1S5
11 limbs/digits/tail MP:0005371 9.73 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS5 TYR
12 renal/urinary system MP:0005367 9.73 AP3B1 AP3D1 BLOC1S4 BLOC1S5 BLOC1S6 CD63
13 vision/eye MP:0005391 9.5 AP3B1 AP3D1 BLOC1S1 BLOC1S3 BLOC1S4 BLOC1S5

Drugs & Therapeutics for Hermansky-Pudlak Syndrome

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

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

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
2 Pirfenidone in the Treatment of Hermansky Pudlak Syndrome (HPS) - Related Interstitial Lung Disease (ILD) Not yet recruiting NCT04193592 Phase 2 Pirfenidone
3 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
4 An Observational Study of the Immunopathogenesis of and Response to Step-Up Inflammatory Bowel Disease Therapy for Hermansky-Pudlak Syndrome-Associated Colitis Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
5 Investigations of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
6 Linkage Study in Familial Pulmonary Fibrosis Completed NCT00016627
7 Clinical and Pathophysiological Investigations Into Erdheim-Chester Disease Completed NCT01417520
8 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
9 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
10 Study of the Immune Regulation of Idiopathic Inflammatory Bowel Diseases: Crohn's Disease, Ulcerative Colitis, and Other Inflammatory Conditions of the Gut Recruiting NCT00001184
11 Procurement and Analysis of Specimens From Individuals With Pulmonary Fibrosis Recruiting NCT00084305

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:

40
Lung, Skin, Eye, Testes, Kidney, Retina, Bone Marrow

Publications for Hermansky-Pudlak Syndrome

Articles related to Hermansky-Pudlak Syndrome:

(show top 50) (show all 634)
# Title Authors PMID Year
1
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. 24 6 54 61
16537806 2006
2
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 61 6 54 24
12923531 2003
3
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 61 6 54 24
11836498 2002
4
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. 6 24 54 61
11809908 2002
5
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. 61 6 24
28259707 2017
6
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. 6 24 61
23607980 2013
7
Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life. 6 24 61
23364359 2013
8
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. 24 6 61
22709368 2012
9
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. 61 24 6
19843503 2009
10
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. 61 24 6
16551969 2006
11
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). 6 61 24
16385460 2006
12
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. 24 6 61
15296495 2004
13
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. 6 24 61
14566336 2003
14
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. 6 24 61
12664304 2003
15
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. 61 24 6
12548288 2003
16
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. 61 24 6
11590544 2001
17
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. 24 6 61
11455388 2001
18
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. 61 6 24
10024875 1999
19
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). 24 6 61
9562579 1998
20
Hermansky-Pudlak syndrome in a Swiss population. 6 24 61
8274781 1993
21
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. 6 24
22461475 2012
22
Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. 6 54 61
10971344 2000
23
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. 61 6
28296950 2017
24
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. 6 61
27225848 2016
25
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. 61 6
24698632 2014
26
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. 24 61 54
16185271 2005
27
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. 6 61
15108212 2004
28
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. 61 54 24
15030569 2004
29
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. 24 54 61
12756248 2003
30
Hermansky-Pudlak Syndrome 6 61
20301464 2000
31
Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. 24 54 61
10768343 2000
32
Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. 24 61 54
10631210 2000
33
Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. 54 61 24
10411151 1999
34
Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. 61 6
9705234 1998
35
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. 61 6
9497254 1998
36
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 6 61
8896559 1996
37
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? 6 61
8042664 1994
38
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. 61 24
28585318 2017
39
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. 24 61
28640947 2017
40
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. 24 61
27593200 2016
41
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. 61 24
26575419 2016
42
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. 61 24
26744459 2016
43
BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery. 61 24
26008744 2015
44
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. 24 61
23403622 2013
45
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2. 61 24
23557002 2013
46
BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. 24 61
23084991 2012
47
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. 24 61
22009278 2012
48
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. 24 61
21833017 2011
49
Therapy refractory menorrhagia as first manifestation of Hermansky-Pudlak syndrome. 61 24
22057877 2011
50
The management of gastrointestinal disease in Hermansky-Pudlak syndrome. 24 61
21085008 2011

Variations for Hermansky-Pudlak Syndrome

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome:

6 (show top 50) (show all 232) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HPS6 NM_024747.5(HPS6):c.283del (p.Val95fs)deletion Pathogenic 595731 rs1564899012 10:103825513-103825513 10:102065756-102065756
2 HPS3 NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)SNV Pathogenic 627248 3:148847525-148847525 3:149129738-149129738
3 HPS6 NM_024747.5(HPS6):c.155del (p.Val52fs)deletion Pathogenic 627011 10:103825386-103825386 10:102065629-102065629
4 HPS6 NM_024747.5(HPS6):c.1624del (p.Asp542fs)deletion Pathogenic 627255 10:103826855-103826855 10:102067098-102067098
5 HPS3 NM_032383.5(HPS3):c.2814dup (p.Leu939fs)duplication Pathogenic 627049 3:148885691-148885692 3:149167904-149167905
6 HPS5 NM_007216.4(HPS5):c.201del (p.Gln67fs)deletion Pathogenic 627333 11:18330561-18330561 11:18309014-18309014
7 HPS3 NM_032383.5(HPS3):c.1163+1G>ASNV Pathogenic 4609 rs201227603 3:148863334-148863334 3:149145547-149145547
8 HPS1 NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)duplication Pathogenic 5277 rs281865163 10:100183554-100183555 10:98423797-98423798
9 BLOC1S6 NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter)SNV Pathogenic 30412 rs201348482 15:45895305-45895305 15:45603107-45603107
10 HPS5 NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs)deletion Pathogenic 280536 rs886041723 11:18305418-18305421 11:18283871-18283874
11 HPS1 NM_000195.5(HPS1):c.1189del (p.Gln397fs)deletion Pathogenic/Likely pathogenic 21091 rs281865084 10:100185444-100185444 10:98425687-98425687
12 HPS1 NM_000195.5(HPS1):c.972dup (p.Met325fs)duplication Pathogenic/Likely pathogenic 5278 rs281865082 10:100186986-100186987 10:98427229-98427230
13 HPS1 NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter)SNV Likely pathogenic 5279 rs121908385 10:100177428-100177428 10:98417671-98417671
14 HPS6 NM_024747.6(HPS6):c.823C>T (p.Pro275Ser)SNV Likely pathogenic 690344 10:103826054-103826054 10:102066297-102066297
15 HPS1 NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter)SNV Likely pathogenic 690342 10:100177368-100177368 10:98417611-98417611
16 HPS1 NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg)SNV Likely pathogenic 690341 10:100184125-100184125 10:98424368-98424368
17 HPS4 NM_152841.2(HPS4):c.261+5G>ASNV Likely pathogenic 690343 22:26872954-26872954 22:26476988-26476988
18 HPS1 NM_000195.5(HPS1):c.1744-2A>CSNV Likely pathogenic 21097 rs281865088 10:100179917-100179917 10:98420160-98420160
19 HPS1 NM_000195.5(HPS1):c.1857+2T>CSNV Likely pathogenic 627174 10:100179800-100179800 10:98420043-98420043
20 HPS6 NM_024747.5(HPS6):c.1649del (p.Gly550fs)deletion Likely pathogenic 627257 10:103826876-103826876 10:102067119-102067119
21 HPS1 NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr)SNV Likely pathogenic 626969 10:100185634-100185634 10:98425877-98425877
22 HPS1 NM_000195.5(HPS1):c.515A>G (p.Glu172Gly)SNV Likely pathogenic 627179 10:100191041-100191041 10:98431284-98431284
23 HPS5 NM_181507.1(HPS5):c.2036C>G (p.Ser679Ter)SNV Likely pathogenic 627032 11:18313393-18313393 11:18291846-18291846
24 HPS6 NM_024747.5(HPS6):c.706_707delTCshort repeat Likely pathogenic 627362 10:103825933-103825934 10:102066176-102066177
25 HPS6 NM_024747.5(HPS6):c.779G>A (p.Gly260Glu)SNV Likely pathogenic 627382 10:103826010-103826010 10:102066253-102066253
26 HPS3 NM_032383.5(HPS3):c.124G>T (p.Glu42Ter)SNV Likely pathogenic 626984 3:148847634-148847634 3:149129847-149129847
27 HPS3 NM_032383.5(HPS3):c.1509G>A (p.Met503Ile)SNV Likely pathogenic 627005 3:148873002-148873002 3:149155215-149155215
28 HPS3 NM_032383.5(HPS3):c.2463dup (p.Arg822fs)duplication Likely pathogenic 627283 3:148880646-148880647 3:149162859-149162860
29 HPS4 NM_152841.2(HPS4):c.1117C>T (p.Gln373Ter)SNV Likely pathogenic 228266 rs369053765 22:26860464-26860464 22:26464498-26464498
30 DTNBP1 NM_032122.5(DTNBP1):c.487A>C (p.Arg163=)SNV Conflicting interpretations of pathogenicity 262011 rs146546977 6:15615499-15615499 6:15615268-15615268
31 HPS4 NM_152841.2(HPS4):c.695C>T (p.Ala232Val)SNV Conflicting interpretations of pathogenicity 261539 rs77597168 22:26861514-26861514 22:26465548-26465548
32 HPS3 NM_032383.5(HPS3):c.2124C>T (p.Gly708=)SNV Conflicting interpretations of pathogenicity 343710 rs138987987 3:148879952-148879952 3:149162165-149162165
33 DTNBP1 NM_183040.2(DTNBP1):c.489-21dupduplication Conflicting interpretations of pathogenicity 355969 rs199770715 6:15593319-15593320 6:15593088-15593089
34 DTNBP1 NM_183040.2(DTNBP1):c.668-8A>GSNV Conflicting interpretations of pathogenicity 355965 rs757305528 6:15524908-15524908 6:15524677-15524677
35 DTNBP1 NM_032122.5(DTNBP1):c.276A>G (p.Thr92=)SNV Conflicting interpretations of pathogenicity 355974 rs148092520 6:15627653-15627653 6:15627422-15627422
36 AP3B1 NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)SNV Conflicting interpretations of pathogenicity 354223 rs62001052 5:77330199-77330199 5:78034375-78034375
37 AP3B1 NM_003664.4(AP3B1):c.388C>T (p.Leu130=)SNV Conflicting interpretations of pathogenicity 354251 rs138774723 5:77523344-77523344 5:78227520-78227520
38 BLOC1S6 NM_012388.3(BLOC1S6):c.82+10A>GSNV Conflicting interpretations of pathogenicity 316224 rs370370639 15:45879733-45879733 15:45587535-45587535
39 DTNBP1 NM_032122.4(DTNBP1):c.1015_1016AG[1] (p.Glu340fs)short repeat Conflicting interpretations of pathogenicity 626951 rs752074481 6:15523242-15523245 6:15523011-15523014
40 AP3B1 NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)SNV Conflicting interpretations of pathogenicity 178704 rs75248449 5:77458689-77458689 5:78162865-78162865
41 HPS5 NM_007216.4(HPS5):c.1081del (p.Leu361fs)deletion Conflicting interpretations of pathogenicity 431164 rs766602179 11:18318432-18318432 11:18296885-18296885
42 AP3B1 NM_003664.4(AP3B1):c.2995G>A (p.Val999Met)SNV Conflicting interpretations of pathogenicity 195962 rs146503597 5:77311370-77311370 5:78015546-78015546
43 HPS6 NM_024747.5(HPS6):c.238dup (p.Asp80fs)duplication Conflicting interpretations of pathogenicity 208586 rs281865108 10:103825467-103825468 10:102065710-102065711
44 AP3B1 NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)SNV Conflicting interpretations of pathogenicity 210189 rs139344924 5:77335015-77335015 5:78039191-78039191
45 AP3B1 NM_003664.5(AP3B1):c.2613C>T (p.His871=)SNV Conflicting interpretations of pathogenicity 210188 rs144420604 5:77335063-77335063 5:78039239-78039239
46 HPS4 NM_152841.2(HPS4):c.235A>G (p.Ile79Val)SNV Conflicting interpretations of pathogenicity 211153 rs149830675 22:26872985-26872985 22:26477019-26477019
47 HPS3 NM_032383.5(HPS3):c.2055G>A (p.Leu685=)SNV Conflicting interpretations of pathogenicity 226653 rs140443498 3:148878015-148878015 3:149160228-149160228
48 HPS3 NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg)SNV Conflicting interpretations of pathogenicity 226654 rs78336249 3:148880043-148880043 3:149162256-149162256
49 BLOC1S3 NM_212550.5(BLOC1S3):c.366C>T (p.His122=)SNV Conflicting interpretations of pathogenicity 162792 rs571269735 19:45682920-45682920 19:45179662-45179662
50 BLOC1S3 NM_212550.5(BLOC1S3):c.339G>A (p.Leu113=)SNV Conflicting interpretations of pathogenicity 226464 rs546645333 19:45682893-45682893 19:45179635-45179635

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:

36
# 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 SNAPIN HPS4 HPS1 DTNBP1 BLOC1S6 BLOC1S4
2
Show member pathways
11.55 SNAPIN DTNBP1 BLOC1S6 BLOC1S4 BLOC1S3 BLOC1S1
3 11.46 LAMP2 CD63 AP3M1 AP3D1 AP3B1
4 9.96 TYRP1 TYR

GO Terms for Hermansky-Pudlak Syndrome

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.4 TYRP1 TYR SNAPIN HPS6 HPS5 HPS4
2 cytosol GO:0005829 10.35 TYR SNAPIN HPS6 HPS5 HPS4 HPS3
3 cell GO:0005623 10.05 SNAPIN LAMP2 BLOC1S6 BLOC1S5 BLOC1S3 AP3D1
4 cytoplasmic vesicle GO:0031410 10.02 SNAPIN LAMP2 HPS4 HPS1 DTNBP1 AP3M1
5 endosome GO:0005768 9.98 LAMP2 HPS6 DTNBP1 CD63 BLOC1S6
6 lysosome GO:0005764 9.91 TYR SNAPIN LAMP2 HPS6 HPS4 HPS1
7 endosome membrane GO:0010008 9.83 TYRP1 LAMP2 DTNBP1 CD63 AP3D1
8 lysosomal membrane GO:0005765 9.81 SNAPIN LAMP2 HPS6 HPS4 CD63 BLOC1S1
9 transport vesicle GO:0030133 9.74 BLOC1S6 BLOC1S5 BLOC1S3
10 melanosome GO:0042470 9.71 TYRP1 TYR HPS4 CD63
11 clathrin adaptor complex GO:0030131 9.55 AP3M1 AP3B1
12 AP-3 adaptor complex GO:0030123 9.54 AP3D1 AP3B1
13 melanosome membrane GO:0033162 9.54 TYRP1 TYR DTNBP1
14 BORC complex GO:0099078 9.52 SNAPIN BLOC1S1
15 BLOC-2 complex GO:0031084 9.5 HPS6 HPS5 HPS3
16 BLOC-1 complex GO:0031083 9.5 SNAPIN DTNBP1 BLOC1S6 BLOC1S5 BLOC1S4 BLOC1S3
17 platelet dense granule membrane GO:0031088 9.49 LAMP2 CD63
18 BLOC-3 complex GO:0031085 9.46 HPS4 HPS1
19 axon cytoplasm GO:1904115 9.32 SNAPIN DTNBP1 BLOC1S6 BLOC1S5 BLOC1S4 BLOC1S3

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 10 HPS6 HPS5 HPS4 DTNBP1 BLOC1S6 BLOC1S3
2 neuron projection development GO:0031175 9.95 SNAPIN DTNBP1 BLOC1S6 BLOC1S5 BLOC1S4 BLOC1S3
3 intracellular protein transport GO:0006886 9.92 SNAPIN AP3M1 AP3D1 AP3B1
4 pigmentation GO:0043473 9.91 TYRP1 TYR HPS6 HPS5 HPS3 CD63
5 anterograde synaptic vesicle transport GO:0048490 9.85 SNAPIN DTNBP1 BLOC1S6 BLOC1S5 BLOC1S4 BLOC1S3
6 lysosome organization GO:0007040 9.8 SNAPIN HPS4 HPS1 AP3B1
7 melanocyte differentiation GO:0030318 9.78 TYRP1 HPS6 HPS4 BLOC1S6
8 organelle organization GO:0006996 9.77 HPS6 HPS5 HPS4 HPS3 DTNBP1
9 platelet dense granule organization GO:0060155 9.73 DTNBP1 BLOC1S3 BLOC1S1 AP3B1
10 lysosome localization GO:0032418 9.72 SNAPIN HPS6 BLOC1S1
11 endosome to melanosome transport GO:0035646 9.72 CD63 BLOC1S6 BLOC1S5 BLOC1S3 AP3D1
12 melanosome transport GO:0032402 9.69 BLOC1S6 BLOC1S5 BLOC1S3
13 melanosome organization GO:0032438 9.65 TYRP1 SNAPIN DTNBP1 BLOC1S6 BLOC1S5 BLOC1S4
14 protein localization to membrane GO:0072657 9.61 HPS6 AP3D1
15 protein targeting to lysosome GO:0006622 9.61 AP3M1 AP3B1
16 melanin biosynthetic process GO:0042438 9.6 TYRP1 TYR
17 positive regulation of natural killer cell activation GO:0032816 9.59 BLOC1S6 BLOC1S3
18 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.58 AP3D1 AP3B1
19 melanosome assembly GO:1903232 9.58 HPS4 HPS1
20 secretion of lysosomal enzymes GO:0033299 9.57 BLOC1S6 BLOC1S3
21 positive regulation of NK T cell differentiation GO:0051138 9.56 AP3D1 AP3B1
22 positive regulation of pigment cell differentiation GO:0050942 9.54 BLOC1S6 BLOC1S5
23 synaptic vesicle budding from endosome GO:0016182 9.52 AP3D1 AP3B1
24 anterograde axonal transport GO:0008089 9.32 SNAPIN DTNBP1 BLOC1S6 BLOC1S5 BLOC1S4 BLOC1S3

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 9.91 TYRP1 TYR SNAPIN LAMP2 HPS6 HPS5
2 Rab GTPase binding GO:0017137 9.43 HPS6 HPS4 AP3M1
3 GTP-dependent protein binding GO:0030742 9.16 HPS6 AP3B1
4 monophenol monooxygenase activity GO:0004503 8.62 TYRP1 TYR

Sources for Hermansky-Pudlak Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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