HPS
MCID: HRM001
MIFTS: 65

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 1 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 Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and kidney, 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.

NIH Rare Diseases : 52 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.

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 Hermansky-Pudlak 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 403)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 1 35.5 LOC100500719 HPS4 HPS1 DTNBP1 AP3B1
2 hermansky-pudlak syndrome 9 35.5 SNAPIN HPS4 BLOC1S6 BLOC1S4
3 hermansky-pudlak syndrome 3 35.5 HPS6 HPS5 HPS3
4 hermansky-pudlak syndrome 5 35.5 HPS6 HPS5 BLOC1S4 BLOC1S1
5 hermansky-pudlak syndrome 6 35.5 HPS6 HPS5
6 hermansky-pudlak syndrome without pulmonary fibrosis 34.9 HPS6 HPS5 HPS3
7 hermansky-pudlak syndrome with pulmonary fibrosis 34.9 HPS4 HPS1
8 storage pool platelet disease 33.4 SNAPIN HPS6 HPS5 HPS4 HPS3 DTNBP1
9 albinism, oculocutaneous, type ib 33.2 TYRP1 TYR HPS3 BLOC1S3
10 albinism 33.0 TYRP1 TYR HPS4 HPS1
11 pulmonary fibrosis 32.7 HPS6 HPS5 HPS4 HPS3 HPS1
12 oculocutaneous albinism 32.4 TYRP1 TYR HPS6 HPS5 HPS4 HPS3
13 pathologic nystagmus 32.1 TYRP1 TYR HPS6 HPS3
14 ocular albinism 31.8 TYRP1 TYR HPS6 HPS4 AP3D1
15 chediak-higashi syndrome 31.7 TYRP1 TYR HPS1 CD63 BLOC1S1 AP3B1
16 albinism, oculocutaneous, type ii 31.4 TYRP1 TYR HPS6 HPS5 HPS4 HPS3
17 syndromic oculocutaneous albinism 31.2 HPS6 CD63
18 albinism, oculocutaneous, type ia 31.2 TYRP1 TYR BLOC1S3
19 albinism, oculocutaneous, type iv 31.2 TYRP1 TYR BLOC1S3
20 hermansky-pudlak syndrome 2 13.2
21 hermansky-pudlak syndrome 4 13.1
22 hermansky-pudlak syndrome 7 13.1
23 hermansky-pudlak syndrome 8 13.1
24 hermansky-pudlak syndrome 10 13.0
25 isolated delta-storage pool disease 12.6
26 hantavirus pulmonary syndrome 12.4
27 extrinsic allergic alveolitis 12.1
28 pancreatitis, hereditary 11.9
29 lysosomal storage disease 11.9
30 hepatopulmonary syndrome 11.7
31 idiopathic interstitial pneumonia 11.3
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 10.9
40 colitis 10.8
41 neutropenia 10.8
42 crohn's disease 10.8
43 interstitial lung disease 10.7
44 pneumonia 10.7
45 pulmonary fibrosis, idiopathic 10.7
46 inflammatory bowel disease 10.7
47 respiratory failure 10.7
48 prostate cancer 10.6
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 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
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 pulmonary fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0002206
10 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
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 ocular albinism 58 31 frequent (33%) Frequent (79-30%) HP:0001107
17 astigmatism 58 31 frequent (33%) Frequent (79-30%) HP:0000483
18 menometrorrhagia 58 31 frequent (33%) Frequent (79-30%) HP:0400008
19 abnormality of the optic nerve 58 31 frequent (33%) Frequent (79-30%) HP:0000587
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 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
24 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
25 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
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 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
29 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
30 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
31 long eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000527
32 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
33 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
34 abnormal thrombocyte morphology 31 occasional (7.5%) HP:0001872
35 visual impairment 58 Occasional (29-5%)
36 abnormal bleeding 58 Very frequent (99-80%)
37 thickened skin 58 Occasional (29-5%)
38 abnormality of thrombocytes 58 Occasional (29-5%)
39 hypopigmentation of the skin 58 Very frequent (99-80%)
40 iris hypopigmentation 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 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
2
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
3
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
4
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
5
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560 441411
6
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
7 Anti-Bacterial Agents Phase 1, Phase 2
8 Anti-Arrhythmia Agents Phase 1, Phase 2
9 Antihypertensive Agents Phase 1, Phase 2
10 Anticholesteremic Agents Phase 1, Phase 2
11 Erythromycin Ethylsuccinate Phase 1, Phase 2
12 Hypolipidemic Agents Phase 1, Phase 2
13 Anti-Infective Agents Phase 1, Phase 2
14 Free Radical Scavengers Phase 1, Phase 2
15 Hormone Antagonists Phase 1, Phase 2
16 Erythromycin stearate Phase 1, Phase 2
17 Erythromycin Estolate Phase 1, Phase 2
18 N-monoacetylcystine Phase 1, Phase 2
19 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
20 Leukotriene Antagonists Phase 1, Phase 2
21 Antioxidants Phase 1, Phase 2
22 Antiviral Agents Phase 1, Phase 2
23 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
24 Respiratory System Agents Phase 1, Phase 2
25 Giapreza Phase 1, Phase 2
26 Pharmaceutical Solutions Phase 1, Phase 2
27 Angiotensin Receptor Antagonists Phase 1, Phase 2
28 Protective Agents Phase 1, Phase 2
29 Lipid Regulating Agents Phase 1, Phase 2
30 Angiotensinogen Phase 1, Phase 2
31 Antidotes Phase 1, Phase 2
32 Expectorants Phase 1, Phase 2
33 Hormones 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
Skin, Lung, Kidney, Eye, Retina, Prostate, Bone

Publications for Hermansky-Pudlak Syndrome

Articles related to Hermansky-Pudlak Syndrome:

(show top 50) (show all 625)
# Title Authors PMID Year
1
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. 54 61 24 6
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). 54 61 24 6
12923531 2003
3
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 54 61 24 6
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. 54 61 24 6
11809908 2002
5
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. 61 24 6
28259707 2017
6
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. 61 24 6
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. 61 24 6
23364359 2013
8
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. 61 24 6
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). 61 24 6
16385460 2006
12
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. 61 24 6
15296495 2004
13
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. 61 24 6
14566336 2003
14
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. 61 24 6
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. 61 24 6
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 24 6
10024875 1999
19
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). 61 24 6
9562579 1998
20
Hermansky-Pudlak syndrome in a Swiss population. 61 24 6
8274781 1993
21
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. 24 6
22461475 2012
22
Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. 54 61 6
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. 61 6
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. 54 61 24
16185271 2005
27
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. 61 6
15108212 2004
28
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. 54 61 24
15030569 2004
29
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. 54 61 24
12756248 2003
30
Hermansky-Pudlak Syndrome 61 6
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. 54 61 24
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. 54 61 24
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. 61 6
8896559 1996
37
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? 61 6
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. 61 24
28640947 2017
40
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. 61 24
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. 61 24
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. 61 24
23084991 2012
47
Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. 61 24
22009278 2012
48
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. 61 24
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. 61 24
21085008 2011

Variations for Hermansky-Pudlak Syndrome

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome:

6 (show top 50) (show all 521) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HPS3 NM_032383.5(HPS3):c.1163+1G>ASNV Pathogenic 4609 rs201227603 3:148863334-148863334 3:149145547-149145547
2 HPS1 NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)duplication Pathogenic 5277 rs281865163 10:100183554-100183555 10:98423797-98423798
3 BLOC1S6 NM_012388.3(BLOC1S6):c.232C>T (p.Gln78Ter)SNV Pathogenic 30412 rs201348482 15:45895305-45895305 15:45603107-45603107
4 HPS5 NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs)deletion Pathogenic 280536 rs886041723 11:18305418-18305421 11:18283871-18283874
5 HPS6 NM_024747.5(HPS6):c.283del (p.Val95fs)deletion Pathogenic 595731 rs1564899012 10:103825513-103825513 10:102065756-102065756
6 HPS3 NM_032383.5(HPS3):c.15C>G (p.Tyr5Ter)SNV Pathogenic 627248 3:148847525-148847525 3:149129738-149129738
7 HPS6 NM_024747.5(HPS6):c.155del (p.Val52fs)deletion Pathogenic 627011 10:103825386-103825386 10:102065629-102065629
8 HPS6 NM_024747.5(HPS6):c.1624del (p.Asp542fs)deletion Pathogenic 627255 10:103826855-103826855 10:102067098-102067098
9 HPS3 NM_032383.5(HPS3):c.2814dup (p.Leu939fs)duplication Pathogenic 627049 3:148885691-148885692 3:149167904-149167905
10 HPS5 NM_007216.4(HPS5):c.201del (p.Gln67fs)deletion Pathogenic 627333 11:18330561-18330561 11:18309014-18309014
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 HPS4 NM_022081.5(HPS4):c.1132C>T (p.Gln378Ter)SNV Likely pathogenic 228266 rs369053765 22:26860464-26860464 22:26464498-26464498
15 HPS1 NM_000195.5(HPS1):c.1744-2A>CSNV Likely pathogenic 21097 rs281865088 10:100179917-100179917 10:98420160-98420160
16 HPS4 NM_022081.5(HPS4):c.276+5G>ASNV Likely pathogenic 690343 22:26872954-26872954 22:26476988-26476988
17 HPS6 NM_024747.6(HPS6):c.823C>T (p.Pro275Ser)SNV Likely pathogenic 690344 10:103826054-103826054 10:102066297-102066297
18 HPS1 NM_000195.5(HPS1):c.2056C>T (p.Gln686Ter)SNV Likely pathogenic 690342 10:100177368-100177368 10:98417611-98417611
19 HPS1 NM_000195.5(HPS1):c.1342T>C (p.Trp448Arg)SNV Likely pathogenic 690341 10:100184125-100184125 10:98424368-98424368
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 HPS1 NM_000195.5(HPS1):c.1857+2T>CSNV Likely pathogenic 627174 10:100179800-100179800 10:98420043-98420043
27 HPS3 NM_032383.5(HPS3):c.124G>T (p.Glu42Ter)SNV Likely pathogenic 626984 3:148847634-148847634 3:149129847-149129847
28 HPS3 NM_032383.5(HPS3):c.1509G>A (p.Met503Ile)SNV Likely pathogenic 627005 3:148873002-148873002 3:149155215-149155215
29 HPS3 NM_032383.5(HPS3):c.2463dup (p.Arg822fs)duplication Likely pathogenic 627283 3:148880646-148880647 3:149162859-149162860
30 HPS5 NM_007216.4(HPS5):c.1081del (p.Leu361fs)deletion Conflicting interpretations of pathogenicity 431164 rs766602179 11:18318432-18318432 11:18296885-18296885
31 HPS4 NM_022081.5(HPS4):c.81G>A (p.Lys27=)SNV Conflicting interpretations of pathogenicity 341023 rs763708665 22:26875282-26875282 22:26479316-26479316
32 HPS4 NM_022081.5(HPS4):c.1192A>C (p.Arg398=)SNV Conflicting interpretations of pathogenicity 341010 rs375655372 22:26860404-26860404 22:26464438-26464438
33 HPS4 NM_022081.5(HPS4):c.1680G>A (p.Pro560=)SNV Conflicting interpretations of pathogenicity 341004 rs527653764 22:26859916-26859916 22:26463950-26463950
34 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
35 HPS1 NM_000195.5(HPS1):c.1286G>A (p.Arg429His)SNV Conflicting interpretations of pathogenicity 298341 rs201728087 10:100185347-100185347 10:98425590-98425590
36 HPS1 NM_000195.5(HPS1):c.179C>T (p.Thr60Met)SNV Conflicting interpretations of pathogenicity 298353 rs200004304 10:100195468-100195468 10:98435711-98435711
37 HPS1 NM_000195.5(HPS1):c.2065C>T (p.Arg689Trp)SNV Conflicting interpretations of pathogenicity 298334 rs3830014 10:100177359-100177359 10:98417602-98417602
38 HPS1 NM_000195.5(HPS1):c.1887C>T (p.Pro629=)SNV Conflicting interpretations of pathogenicity 298338 rs142347792 10:100177985-100177985 10:98418228-98418228
39 HPS5 NM_181507.1(HPS5):c.1609G>T (p.Val537Leu)SNV Conflicting interpretations of pathogenicity 303885 rs149677540 11:18317571-18317571 11:18296024-18296024
40 HPS5 NM_181507.1(HPS5):c.2247A>G (p.Val749=)SNV Conflicting interpretations of pathogenicity 303878 rs139004989 11:18313182-18313182 11:18291635-18291635
41 HPS5 NM_181507.1(HPS5):c.241G>A (p.Ala81Thr)SNV Conflicting interpretations of pathogenicity 303898 rs147053126 11:18332977-18332977 11:18311430-18311430
42 BLOC1S3 NM_212550.4(BLOC1S3):c.-7C>GSNV Conflicting interpretations of pathogenicity 329470 rs200767686 19:45682548-45682548 19:45179290-45179290
43 HPS4 NM_022081.5(HPS4):c.751A>T (p.Thr251Ser)SNV Conflicting interpretations of pathogenicity 341016 rs34962745 22:26861473-26861473 22:26465507-26465507
44 HPS4 NM_022081.5(HPS4):c.1700C>T (p.Ala567Val)SNV Conflicting interpretations of pathogenicity 341002 rs140234219 22:26859896-26859896 22:26463930-26463930
45 HPS4 NM_022081.5(HPS4):c.250A>G (p.Ile84Val)SNV Conflicting interpretations of pathogenicity 211153 rs149830675 22:26872985-26872985 22:26477019-26477019
46 HPS3 NM_032383.5(HPS3):c.51C>T (p.Pro17=)SNV Conflicting interpretations of pathogenicity 227429 rs141883346 3:148847561-148847561 3:149129774-149129774
47 HPS3 NM_032383.5(HPS3):c.823G>A (p.Glu275Lys)SNV Conflicting interpretations of pathogenicity 226655 rs34388030 3:148858914-148858914 3:149141127-149141127
48 HPS3 NM_032383.5(HPS3):c.2055G>A (p.Leu685=)SNV Conflicting interpretations of pathogenicity 226653 rs140443498 3:148878015-148878015 3:149160228-149160228
49 HPS3 NM_032383.5(HPS3):c.2215G>A (p.Gly739Arg)SNV Conflicting interpretations of pathogenicity 226654 rs78336249 3:148880043-148880043 3:149162256-149162256
50 BLOC1S3 NM_212550.4(BLOC1S3):c.366C>T (p.His122=)SNV Conflicting interpretations of pathogenicity 162792 rs571269735 19:45682920-45682920 19:45179662-45179662

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 11.44 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 10.07 SNAPIN LAMP2 BLOC1S6 BLOC1S5 BLOC1S3 AP3D1
4 endosome GO:0005768 9.98 LAMP2 HPS6 DTNBP1 CD63 BLOC1S6
5 cytoplasmic vesicle GO:0031410 9.95 SNAPIN LAMP2 HPS4 HPS1 DTNBP1 AP3M1
6 lysosomal membrane GO:0005765 9.86 SNAPIN LAMP2 HPS6 CD63 BLOC1S1 AP3M1
7 endosome membrane GO:0010008 9.83 TYRP1 LAMP2 DTNBP1 CD63 AP3D1
8 lysosome GO:0005764 9.81 TYR SNAPIN LAMP2 HPS6 HPS4 HPS1
9 melanosome GO:0042470 9.76 TYRP1 TYR HPS4 CD63
10 transport vesicle GO:0030133 9.74 BLOC1S6 BLOC1S5 BLOC1S3
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 9.51 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 9.48 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 9.98 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 9.86 TYRP1 TYR HPS6 HPS5 HPS3 CD63
5 anterograde synaptic vesicle transport GO:0048490 9.85 SNAPIN DTNBP1 BLOC1S6 BLOC1S5 BLOC1S4 BLOC1S3
6 organelle organization GO:0006996 9.77 HPS6 HPS5 HPS4 HPS3 DTNBP1
7 melanocyte differentiation GO:0030318 9.76 TYRP1 HPS6 HPS4 BLOC1S6
8 lysosome organization GO:0007040 9.72 SNAPIN HPS4 HPS1
9 endosome to melanosome transport GO:0035646 9.72 CD63 BLOC1S6 BLOC1S5 BLOC1S3 AP3D1
10 lysosome localization GO:0032418 9.71 SNAPIN HPS6 BLOC1S1
11 melanosome transport GO:0032402 9.67 BLOC1S6 BLOC1S5 BLOC1S3
12 platelet dense granule organization GO:0060155 9.65 DTNBP1 BLOC1S3 BLOC1S1
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 9.52 BLOC1S6 BLOC1S5
23 synaptic vesicle budding from endosome GO:0016182 9.51 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 9.89 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
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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