HPS
MCID: HRM001
MIFTS: 65

Hermansky-Pudlak Syndrome (HPS)

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

Aliases & Classifications for Hermansky-Pudlak Syndrome

MalaCards integrated aliases for Hermansky-Pudlak Syndrome:

Name: Hermansky-Pudlak Syndrome 12 73 25 20 43 58 36 29 54 6 15 39
Hps 20 43 58
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 20 70
Hermanski-Pudlak Syndrome 44 70
Platelet Storage Pool Deficiency 70
Hermansky Pudlak Syndrome 20

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

MedlinePlus Genetics : 43 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 1, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome is HPS4 (HPS4 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 2), 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 eye, skin and retina, and related phenotypes are nystagmus and immunodeficiency

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.

GARD : 20 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 : 73 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
Hermansky-Pudlak Syndrome 11

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

(show top 50) (show all 213)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 2 33.9 HPS3 CD63 AP3M1 AP3B1
2 hermansky-pudlak syndrome 1 33.8 HPS6 HPS5 HPS4 HPS3 HPS1 EEF1E1-BLOC1S5
3 hermansky-pudlak syndrome 5 33.8 HPS6 HPS5 BLOC1S4 BLOC1S1
4 hermansky-pudlak syndrome 9 33.7 HPS4 BLOC1S6 BLOC1S4
5 hermansky-pudlak syndrome 3 33.7 HPS6 HPS5 HPS3 CP
6 hermansky-pudlak syndrome 6 33.6 HPS6 HPS5
7 hermansky-pudlak syndrome 11 33.4 EEF1E1-BLOC1S5 BLOC1S5-TXNDC5 BLOC1S5
8 storage pool platelet disease 32.9 HPS6 HPS5 HPS4 HPS3 DTNBP1 CD63
9 hermansky-pudlak syndrome with pulmonary fibrosis 32.8 HPS4 HPS1 DTNBP1
10 hermansky-pudlak syndrome without pulmonary fibrosis 32.8 HPS6 HPS5 HPS3 CP
11 albinism 32.8 TYRP1 TYR HPS4 HPS1
12 oculocutaneous albinism 32.7 TYRP1 TYR HPS6 HPS5 HPS4 HPS3
13 pulmonary fibrosis 32.6 HPS6 HPS5 HPS4 HPS3 HPS1 DTNBP1
14 pathologic nystagmus 31.9 TYRP1 TYR HPS6 HPS3
15 ocular albinism 31.8 TYRP1 TYR HPS6 HPS5 HPS4 AP3D1
16 chediak-higashi syndrome 31.6 TYRP1 TYR HPS1 CD63 BLOC1S1 AP3B1
17 hypopigmentation of the skin 31.4 TYR HPS3
18 albinism, oculocutaneous, type ii 31.3 TYRP1 TYR HPS6 HPS5 HPS4 HPS3
19 griscelli syndrome 31.2 TYRP1 TYR HPS6 HPS4 HPS3 BLOC1S6
20 exotropia 31.2 HPS6 HPS5 HPS3 BLOC1S3 BLOC1S1
21 syndromic oculocutaneous albinism 31.1 HPS6 CD63
22 albinism, oculocutaneous, type iv 31.0 TYRP1 TYR HPS6 HPS5 HPS4 HPS3
23 acute contagious conjunctivitis 30.9 TYRP1 TYR HPS5
24 albinism, oculocutaneous, type ia 30.9 TYRP1 TYR BLOC1S3
25 hermansky-pudlak syndrome 4 12.0
26 hermansky-pudlak syndrome 7 11.9
27 hermansky-pudlak syndrome 8 11.9
28 hermansky-pudlak syndrome 10 11.9
29 hantavirus pulmonary syndrome 11.5
30 lysosomal storage disease 11.3
31 hepatopulmonary syndrome 11.2
32 autosomal recessive disease 11.1
33 posttransplant acute limbic encephalitis 10.8
34 lung disease 10.8
35 fibrosis of extraocular muscles, congenital, 1 10.7
36 neutropenia 10.7
37 colitis 10.6
38 interstitial lung disease 10.6
39 crohn's disease 10.6
40 griscelli syndrome, type 1 10.6 HPS6 HPS5 HPS4 BLOC1S6 BLOC1S3
41 albinism, oculocutaneous, type iii 10.6 TYRP1 TYR HPS6 HPS5 HPS4 HPS3
42 pulmonary fibrosis, idiopathic 10.6
43 prostatic hyperplasia, benign 10.5
44 prostatic hypertrophy 10.5
45 prostatic adenoma 10.5
46 piebald trait 10.5 TYRP1 TYR BLOC1S6
47 ochronosis 10.5 TYRP1 TYR
48 menkes disease 10.5 TYR CP BLOC1S1
49 albinism, oculocutaneous, type v 10.5 TYRP1 TYR
50 respiratory failure 10.5

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 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
10 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
11 pulmonary fibrosis 58 31 frequent (33%) Frequent (79-30%) HP:0002206
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 hyperkeratosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000962
23 melanocytic nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000995
24 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
25 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
26 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
27 abnormality of dental enamel 58 31 occasional (7.5%) Occasional (29-5%) HP:0000682
28 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
29 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
30 long eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000527
31 squamous cell carcinoma of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0006739
32 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
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 abnormality of thrombocytes 58 Occasional (29-5%)
37 abnormal bleeding 58 Very frequent (99-80%)
38 thickened skin 58 Occasional (29-5%)
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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
2 homeostasis/metabolism MP:0005376 10.27 AP3B1 AP3D1 BLOC1S1 BLOC1S4 BLOC1S5 BLOC1S6
3 cellular MP:0005384 10.26 AP3B1 AP3D1 BLOC1S1 BLOC1S3 BLOC1S4 BLOC1S5
4 hematopoietic system MP:0005397 10.25 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
5 hearing/vestibular/ear MP:0005377 10.17 AP3B1 AP3D1 BLOC1S3 BLOC1S5 BLOC1S6 HPS1
6 integument MP:0010771 10.1 AP3B1 AP3D1 BLOC1S3 BLOC1S4 BLOC1S5 BLOC1S6
7 craniofacial MP:0005382 10.06 AP3B1 BLOC1S3 HPS1 HPS4 HPS5 HPS6
8 immune system MP:0005387 10.06 AP3B1 BLOC1S3 BLOC1S5 BLOC1S6 CP DTNBP1
9 pigmentation MP:0001186 10.06 AP3B1 AP3D1 BLOC1S1 BLOC1S3 BLOC1S4 BLOC1S5
10 renal/urinary system MP:0005367 9.73 AP3B1 AP3D1 BLOC1S4 BLOC1S5 BLOC1S6 CD63
11 vision/eye MP:0005391 9.53 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
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
3
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
4
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
5
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
6
Zileuton Approved, Investigational, Withdrawn Phase 1, Phase 2 111406-87-2 60490
7
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560
8 Lipid Regulating Agents Phase 1, Phase 2
9 Anti-Infective Agents Phase 1, Phase 2
10 Anticholesteremic Agents Phase 1, Phase 2
11 Anti-Arrhythmia Agents Phase 1, Phase 2
12 Antidotes Phase 1, Phase 2
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
14 Respiratory System Agents Phase 1, Phase 2
15 Erythromycin Ethylsuccinate Phase 1, Phase 2
16 Antioxidants Phase 1, Phase 2
17 Erythromycin stearate Phase 1, Phase 2
18 Erythromycin Estolate Phase 1, Phase 2
19 Hormones Phase 1, Phase 2
20 Hormone Antagonists Phase 1, Phase 2
21 Giapreza Phase 1, Phase 2
22 Angiotensinogen Phase 1, Phase 2
23 Protective Agents Phase 1, Phase 2
24 Pharmaceutical Solutions Phase 1, Phase 2
25 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
26 Expectorants Phase 1, Phase 2
27 Angiotensin Receptor Antagonists Phase 1, Phase 2
28 Anti-Bacterial Agents Phase 1, Phase 2
29 Antihypertensive Agents Phase 1, Phase 2
30 Hypolipidemic Agents Phase 1, Phase 2
31 Antiviral Agents Phase 1, Phase 2
32 N-monoacetylcystine Phase 1, Phase 2
33 Leukotriene Antagonists Phase 1, Phase 2

Interventional clinical trials:


# 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 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Completed NCT02368340
6 Clinical and Pathophysiological Investigations Into Erdheim-Chester Disease Completed NCT01417520
7 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
8 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
Eye, Skin, Retina, Kidney, Heart, Lung, Bone Marrow

Publications for Hermansky-Pudlak Syndrome

Articles related to Hermansky-Pudlak Syndrome:

(show top 50) (show all 662)
# Title Authors PMID Year
1
Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. 6 25 54 61
16537806 2006
2
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. 25 6 54 61
16185271 2005
3
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). 6 54 25 61
12923531 2003
4
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. 54 25 6 61
11836498 2002
5
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2. 25 6 54 61
11809908 2002
6
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. 25 6 61
28259707 2017
7
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. 61 6 25
28640947 2017
8
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. 25 61 6
27593200 2016
9
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. 61 6 25
26575419 2016
10
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. 25 6 61
23607980 2013
11
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. 25 6 61
23364359 2013
12
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8. 25 6 61
22709368 2012
13
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. 61 25 6
19843503 2009
14
Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. 61 25 6
17365864 2007
15
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. 25 6 61
17041891 2006
16
Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. 61 6 25
16551969 2006
17
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). 61 25 6
16385460 2006
18
Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR. 6 25 61
15952982 2005
19
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. 6 25 61
15296495 2004
20
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. 25 6 61
14566336 2003
21
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. 25 6 61
12664304 2003
22
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. 25 61 6
12548288 2003
23
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. 61 6 25
11590544 2001
24
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. 61 25 6
11455388 2001
25
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. 25 61 6
10024875 1999
26
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). 61 6 25
9562579 1998
27
Hermansky-Pudlak syndrome in a Swiss population. 61 6 25
8274781 1993
28
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. 6 25
22461475 2012
29
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). 6 54 61
20514622 2010
30
The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene. 6 54 61
19665357 2009
31
Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. 61 6 54
10971344 2000
32
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. 6 61
30387913 2019
33
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. 61 6
28296950 2017
34
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. 6 61
27225848 2016
35
Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders. 6 61
26806224 2016
36
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. 6 61
24698632 2014
37
Novel mutations in the HPS1 gene among Puerto Rican patients. 6 61
20662851 2011
38
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9. 6 61
21665000 2011
39
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. 6 61
15108212 2004
40
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. 25 54 61
15030569 2004
41
Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance. 61 6
14510955 2003
42
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. 25 54 61
12756248 2003
43
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. 61 25 54
10768343 2000
44
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. 25 61 54
10631210 2000
45
Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. 61 25 54
10411151 1999
46
Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. 6 61
9705234 1998
47
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. 6 61
9497254 1998
48
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. 6 61
8896559 1996
49
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? 61 6
8042664 1994
50
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies. 25 61
32245340 2021

Variations for Hermansky-Pudlak Syndrome

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome:

6 (show top 50) (show all 1090)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BLOC1S3 NM_212550.4(BLOC1S3):c.448del (p.Gln150fs) Deletion Pathogenic 1489 rs281865116 GRCh37: 19:45683000-45683000
GRCh38: 19:45179742-45179742
2 HPS4 NM_022081.6(HPS4):c.1891C>T (p.Gln631Ter) SNV Pathogenic 4125 rs119471021 GRCh37: 22:26853889-26853889
GRCh38: 22:26457923-26457923
3 HPS4 NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs) Microsatellite Pathogenic 4126 rs281865100 GRCh37: 22:26849232-26849233
GRCh38: 22:26453266-26453267
4 HPS4 NM_022081.6(HPS4):c.57del (p.Leu20fs) Deletion Pathogenic 4127 rs281865097 GRCh37: 22:26875306-26875306
GRCh38: 22:26479340-26479340
5 HPS3 NM_032383.5(HPS3):c.0_217+692del Deletion Pathogenic 4608 GRCh37: 3:148844501-148848419
GRCh38: 3:149126714-149130632
6 HPS3 NM_032383.5(HPS3):c.1691+2T>G SNV Pathogenic 4610 rs281865093 GRCh37: 3:148875320-148875320
GRCh38: 3:149157533-149157533
7 HPS3 , CP NM_032383.5(HPS3):c.2482-2A>G SNV Pathogenic 4611 rs397507168 GRCh37: 3:148881627-148881627
GRCh38: 3:149163840-149163840
8 HPS3 , CP NM_032383.5(HPS3):c.2589+1G>C SNV Pathogenic 4612 rs281865095 GRCh37: 3:148881737-148881737
GRCh38: 3:149163950-149163950
9 HPS3 NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) SNV Pathogenic 4613 rs121908316 GRCh37: 3:148868411-148868411
GRCh38: 3:149150624-149150624
10 HPS3 HPS3, 89-BP INS Insertion Pathogenic 4614 GRCh37:
GRCh38:
11 HPS1 NM_000195.5(HPS1):c.398+5G>A SNV Pathogenic 5283 rs281865077 GRCh37: 10:100195024-100195024
GRCh38: 10:98435267-98435267
12 AP3B1 NM_003664.4(AP3B1):c.1739T>G (p.Leu580Arg) SNV Pathogenic 6372 rs121908904 GRCh37: 5:77425043-77425043
GRCh38: 5:78129219-78129219
13 AP3B1 AP3B1, 1-BP INS, 1618G Insertion Pathogenic 6373 GRCh37:
GRCh38:
14 AP3B1 AP3B1, IVS14DS, T-C, +6 SNV Pathogenic 6374 GRCh37:
GRCh38:
15 AP3B1 NM_003664.4(AP3B1):c.1474-7072_1650+921del Deletion Pathogenic 6375 GRCh37: 5:77436046-77444215
GRCh38: 5:78140222-78148391
16 AP3B1 NM_003664.4(AP3B1):c.904A>T (p.Arg302Ter) SNV Pathogenic 6376 rs121908905 GRCh37: 5:77477369-77477369
GRCh38: 5:78181545-78181545
17 AP3B1 NM_003664.4(AP3B1):c.1525C>T (p.Arg509Ter) SNV Pathogenic 6377 rs121908906 GRCh37: 5:77437092-77437092
GRCh38: 5:78141268-78141268
18 AP3B1 NM_003664.4(AP3B1):c.1975G>T (p.Glu659Ter) SNV Pathogenic 6378 rs121908907 GRCh37: 5:77412052-77412052
GRCh38: 5:78116228-78116228
19 HPS3 , CP NM_032383.5(HPS3):c.2888-1612G>A SNV Pathogenic 21010 rs281865096 GRCh37: 3:148888270-148888270
GRCh38: 3:149170483-149170483
20 HPS1 NM_000195.5(HPS1):c.932del (p.Ser311fs) Deletion Pathogenic 21109 rs281865091 GRCh37: 10:100189335-100189335
GRCh38: 10:98429578-98429578
21 HPS1 NM_000195.5(HPS1):c.962del (p.Gly321fs) Deletion Pathogenic 21110 rs281865081 GRCh37: 10:100186997-100186997
GRCh38: 10:98427240-98427240
22 HPS1 NM_000195.5(HPS1):c.974_975insC (p.Met325fs) Insertion Pathogenic 21113 rs281865092 GRCh37: 10:100186984-100186985
GRCh38: 10:98427227-98427228
23 HPS4 NM_022081.6(HPS4):c.1866del (p.Thr623fs) Deletion Pathogenic 21676 rs281865099 GRCh37: 22:26853914-26853914
GRCh38: 22:26457948-26457948
24 HPS4 NM_022081.6(HPS4):c.461A>G (p.His154Arg) SNV Pathogenic 21678 rs281865098 GRCh37: 22:26868308-26868308
GRCh38: 22:26472342-26472342
25 HPS4 HPS4, 1-BP DEL, C, CODON 685 Deletion Pathogenic 4133 GRCh37:
GRCh38:
26 HPS4 NM_022081.6(HPS4):c.664G>T (p.Glu222Ter) SNV Pathogenic 4132 rs119471025 GRCh37: 22:26864522-26864522
GRCh38: 22:26468556-26468556
27 HPS4 NM_022081.6(HPS4):c.412G>T (p.Glu138Ter) SNV Pathogenic 4131 rs119471024 GRCh37: 22:26868357-26868357
GRCh38: 22:26472391-26472391
28 HPS4 NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) SNV Pathogenic 4130 rs119471023 GRCh37: 22:26864537-26864537
GRCh38: 22:26468571-26468571
29 HPS4 NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) Duplication Pathogenic 4129 rs281865164 GRCh37: 22:26860623-26860624
GRCh38: 22:26464657-26464658
30 HPS4 NM_022081.6(HPS4):c.541C>T (p.Gln181Ter) SNV Pathogenic 4128 rs119471022 GRCh37: 22:26866740-26866740
GRCh38: 22:26470774-26470774
31 DTNBP1 NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter) SNV Pathogenic 3432 rs104893945 GRCh37: 6:15627622-15627622
GRCh38: 6:15627391-15627391
32 HPS5 NM_007216.4(HPS5):c.1684_1687del (p.Val562fs) Deletion Pathogenic 3152 rs281865103 GRCh37: 11:18313400-18313403
GRCh38: 11:18291853-18291856
33 HPS6 NM_024747.5(HPS6):c.1714_1717del (p.Leu572fs) Deletion Pathogenic 3151 rs281865113 GRCh37: 10:103826942-103826945
GRCh38: 10:102067185-102067188
34 HPS1 NM_000195.5(HPS1):c.962dup (p.Thr322fs) Duplication Pathogenic 5282 rs281865081 GRCh37: 10:100186996-100186997
GRCh38: 10:98427239-98427240
35 HPS1 NM_000195.5(HPS1):c.397G>T (p.Glu133Ter) SNV Pathogenic 5281 rs121908386 GRCh37: 10:100195030-100195030
GRCh38: 10:98435273-98435273
36 HPS1 NM_000195.5(HPS1):c.972del (p.Met325fs) Deletion Pathogenic 5280 rs281865082 GRCh37: 10:100186987-100186987
GRCh38: 10:98427230-98427230
37 HPS1 NM_000195.5(HPS1):c.1996G>T (p.Glu666Ter) SNV Pathogenic 5279 rs121908385 GRCh37: 10:100177428-100177428
GRCh38: 10:98417671-98417671
38 HPS4 NM_022081.6(HPS4):c.57dup (p.Leu20fs) Duplication Pathogenic 21679 rs281865097 GRCh37: 22:26875305-26875306
GRCh38: 22:26479339-26479340
39 HPS5 NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) SNV Pathogenic 21817 rs281865102 GRCh37: 11:18313558-18313558
GRCh38: 11:18292011-18292011
40 HPS5 NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) SNV Pathogenic 21818 rs281865104 GRCh37: 11:18309206-18309206
GRCh38: 11:18287659-18287659
41 HPS5 NM_007216.4(HPS5):c.2282del (p.Leu761fs) Deletion Pathogenic 21819 rs281865105 GRCh37: 11:18309175-18309175
GRCh38: 11:18287628-18287628
42 HPS5 NM_007216.4(HPS5):c.2586_2587dup (p.Thr863fs) Duplication Pathogenic 21820 rs397507169 GRCh37: 11:18306914-18306915
GRCh38: 11:18285367-18285368
43 HPS1 NM_000195.5(HPS1):c.2003T>C (p.Leu668Pro) SNV Pathogenic 21101 rs281865090 GRCh37: 10:100177421-100177421
GRCh38: 10:98417664-98417664
44 HPS1 NM_000195.5(HPS1):c.288del (p.Asp97fs) Deletion Pathogenic 21102 rs281865074 GRCh37: 10:100195139-100195139
GRCh38: 10:98435382-98435382
45 HPS1 NM_000195.5(HPS1):c.355del (p.His119fs) Deletion Pathogenic 21103 rs281865075 GRCh37: 10:100195072-100195072
GRCh38: 10:98435315-98435315
46 HPS1 NM_000195.5(HPS1):c.391C>T (p.Arg131Ter) SNV Pathogenic 21104 rs281865076 GRCh37: 10:100195036-100195036
GRCh38: 10:98435279-98435279
47 HPS1 NM_000195.5(HPS1):c.418del (p.Ala140fs) Deletion Pathogenic 21105 rs281865078 GRCh37: 10:100193829-100193829
GRCh38: 10:98434072-98434072
48 HPS1 NM_000195.5(HPS1):c.532dup (p.Gln178fs) Duplication Pathogenic 21106 rs281865079 GRCh37: 10:100191023-100191024
GRCh38: 10:98431266-98431267
49 HPS1 NM_000195.5(HPS1):c.716T>C (p.Leu239Pro) SNV Pathogenic 21107 rs281865080 GRCh37: 10:100190380-100190380
GRCh38: 10:98430623-98430623
50 HPS5 NM_007216.4(HPS5):c.537dup (p.Lys180fs) Duplication Pathogenic 21822 rs281865101 GRCh37: 11:18326985-18326986
GRCh38: 11:18305438-18305439

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
12.66 HPS4 HPS1 DTNBP1 BLOC1S6 BLOC1S4 BLOC1S3
2 11.56 CD63 AP3M1 AP3D1 AP3B1
3
Show member pathways
11.48 DTNBP1 BLOC1S6 BLOC1S4 BLOC1S3 BLOC1S1 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 12)
# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.87 TYR HPS6 HPS4 HPS1 CD63 BLOC1S1
2 endosome membrane GO:0010008 9.81 TYRP1 DTNBP1 CD63 AP3D1
3 lysosomal membrane GO:0005765 9.76 HPS6 HPS4 CP CD63 BLOC1S1 AP3M1
4 transport vesicle GO:0030133 9.73 BLOC1S6 BLOC1S5-TXNDC5 BLOC1S5 BLOC1S3
5 melanosome GO:0042470 9.71 TYRP1 TYR HPS4 CD63
6 melanosome membrane GO:0033162 9.54 TYRP1 TYR DTNBP1
7 BLOC-1 complex GO:0031083 9.5 DTNBP1 BLOC1S6 BLOC1S5-TXNDC5 BLOC1S5 BLOC1S4 BLOC1S3
8 clathrin adaptor complex GO:0030131 9.49 AP3M1 AP3B1
9 AP-3 adaptor complex GO:0030123 9.48 AP3D1 AP3B1
10 BLOC-3 complex GO:0031085 9.46 HPS4 HPS1
11 BLOC-2 complex GO:0031084 9.43 HPS6 HPS5 HPS3
12 axon cytoplasm GO:1904115 9.28 DTNBP1 BLOC1S6 BLOC1S5 BLOC1S4 BLOC1S3 BLOC1S1

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 vesicle-mediated transport GO:0016192 9.93 HPS4 HPS1 AP3M1 AP3D1 AP3B1
3 neuron projection development GO:0031175 9.93 DTNBP1 BLOC1S6 BLOC1S5 BLOC1S4 BLOC1S3 BLOC1S1
4 anterograde synaptic vesicle transport GO:0048490 9.91 DTNBP1 BLOC1S6 BLOC1S5 BLOC1S4 BLOC1S3 BLOC1S1
5 pigmentation GO:0043473 9.81 TYRP1 TYR HPS6 HPS5 HPS3 CD63
6 melanocyte differentiation GO:0030318 9.78 TYRP1 HPS6 HPS4 BLOC1S6
7 organelle organization GO:0006996 9.77 HPS6 HPS5 HPS4 HPS3 DTNBP1
8 lysosome organization GO:0007040 9.73 HPS4 HPS1 AP3B1
9 endosome to melanosome transport GO:0035646 9.72 CD63 BLOC1S6 BLOC1S5 BLOC1S3 AP3D1
10 platelet dense granule organization GO:0060155 9.71 DTNBP1 BLOC1S3 BLOC1S1 AP3B1
11 melanosome transport GO:0032402 9.67 BLOC1S6 BLOC1S5 BLOC1S3
12 lysosome localization GO:0032418 9.62 HPS6 BLOC1S1
13 protein localization to membrane GO:0072657 9.61 HPS6 AP3D1
14 protein targeting to lysosome GO:0006622 9.61 AP3M1 AP3B1
15 melanosome organization GO:0032438 9.61 TYRP1 DTNBP1 BLOC1S6 BLOC1S5 BLOC1S4 BLOC1S3
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 9.55 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 9.28 DTNBP1 BLOC1S6 BLOC1S5 BLOC1S4 BLOC1S3 BLOC1S1

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

# Name GO ID Score Top Affiliating Genes
1 GTP-dependent protein binding GO:0030742 8.96 HPS6 AP3B1
2 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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