MCID: HRM001
MIFTS: 62

Hermansky-Pudlak Syndrome

Categories: Rare diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases, Genetic diseases

Aliases & Classifications for Hermansky-Pudlak Syndrome

MalaCards integrated aliases for Hermansky-Pudlak Syndrome:

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

Characteristics:

Orphanet epidemiological data:

59
hermansky-pudlak syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:



Summaries for Hermansky-Pudlak Syndrome

NIH Rare Diseases : 53 Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Long-term sun exposure greatly increases the risk of skin damage and skin cancers. Some individuals have colitis, kidney failure, and pulmonary fibrosis. Symptoms of pulmonary fibrosis usually appear during the early thirties and rapidly worsen. This condition is inherited in an autosomal recessive fashion. Treatment is symptomatic and supportive. There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms of all the types. Little is known about the signs, symptoms, and severity of types 7, 8 and 9.

MalaCards based summary : Hermansky-Pudlak Syndrome, also known as hps, is related to hermansky-pudlak syndrome 6 and hermansky-pudlak syndrome 5, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome is HPS1 (HPS1, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1), and among its related pathways/superpathways are Lysosome and Vesicle-mediated transport. The drugs Pirfenidone and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and kidney, and related phenotypes are nystagmus and neutropenia

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

Genetics Home Reference : 25 Hermansky-Pudlak syndrome is a disorder characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair. People with this disorder have a higher than average risk of skin damage and skin cancers caused by long-term sun exposure. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia) are also common in oculocutaneous albinism. In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.

Wikipedia : 76 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 68)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 6 34.8 HPS5 HPS6
2 hermansky-pudlak syndrome 5 34.7 HPS5 HPS6
3 hermansky-pudlak syndrome with pulmonary fibrosis 34.4 HPS1 HPS4
4 hermansky-pudlak syndrome 9 34.0 BLOC1S6 CD63
5 hermansky-pudlak syndrome without pulmonary fibrosis 33.6 HPS3 HPS5 HPS6
6 hermansky-pudlak syndrome 1 32.3 AP3B1 DTNBP1 HPS1 HPS4 TYR
7 hermansky-pudlak syndrome 3 32.1 HPS3 HPS5 HPS6 TYR TYRP1
8 storage pool platelet disease 31.3 AP3B1 BLOC1S6 HPS3 HPS4 HPS6
9 pulmonary fibrosis 30.5 HPS1 HPS3 HPS4 HPS5 HPS6
10 chediak-higashi syndrome 29.5 HPS1 TYR TYRP1
11 albinism 28.0 AP3D1 BLOC1S3 HPS1 HPS4 TYR TYRP1
12 oculocutaneous albinism 25.7 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS3 HPS4
13 hermansky-pudlak syndrome 2 12.8
14 hermansky-pudlak syndrome 4 12.8
15 hermansky-pudlak syndrome 7 12.8
16 hermansky-pudlak syndrome 8 12.8
17 hermansky-pudlak syndrome 10 12.6
18 isolated delta-storage pool disease 12.3
19 hantavirus pulmonary syndrome 12.0
20 pancreatitis, hereditary 11.7
21 extrinsic allergic alveolitis 11.5
22 hepatopulmonary syndrome 11.4
23 albinism, oculocutaneous, type ib 11.2
24 colitis 10.6
25 pneumonia 10.5
26 lung disease 10.5
27 interstitial lung disease 10.3
28 diffuse pulmonary fibrosis 10.3
29 enterocolitis 10.2
30 crohn's disease 10.2
31 hemophagocytic lymphohistiocytosis 10.2
32 gastrointestinal system disease 10.2
33 neuronitis 10.2
34 thrombasthenia 10.2
35 systemic lupus erythematosus 10.1
36 schizophrenia 10.1
37 albinism, oculocutaneous, type ia 10.1
38 lung cancer 10.1
39 bernard-soulier syndrome 10.1
40 neuronal ceroid-lipofuscinoses 10.1
41 chronic kidney failure 10.1
42 glomerulonephritis 10.1
43 pulmonary sarcoidosis 10.1
44 acrofacial dysostosis 10.1
45 thrombosis 10.1
46 pulmonary alveolar proteinosis 10.1
47 crescentic glomerulonephritis 10.1
48 keratosis 10.1
49 pneumothorax 10.1
50 squamous cell carcinoma 10.1

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome:



Diseases related to Hermansky-Pudlak Syndrome

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome

Human phenotypes related to Hermansky-Pudlak Syndrome:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 neutropenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001875
3 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
4 partial albinism 59 32 hallmark (90%) Very frequent (99-80%) HP:0007443
5 renal insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0000083
6 epistaxis 59 32 frequent (33%) Frequent (79-30%) HP:0000421
7 astigmatism 59 32 frequent (33%) Frequent (79-30%) HP:0000483
8 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
9 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
10 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
11 abnormality of the optic nerve 59 32 frequent (33%) Frequent (79-30%) HP:0000587
12 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613
13 amblyopia 59 32 frequent (33%) Frequent (79-30%) HP:0000646
14 abnormality of visual evoked potentials 59 32 frequent (33%) Frequent (79-30%) HP:0000649
15 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
16 ocular albinism 59 32 frequent (33%) Frequent (79-30%) HP:0001107
17 pulmonary fibrosis 59 32 frequent (33%) Frequent (79-30%) HP:0002206
18 hypopigmentation of hair 59 32 frequent (33%) Frequent (79-30%) HP:0005599
19 menometrorrhagia 59 32 frequent (33%) Frequent (79-30%) HP:0400008
20 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
21 long eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000527
22 abnormality of dental enamel 59 32 occasional (7.5%) Occasional (29-5%) HP:0000682
23 hyperkeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000962
24 melanocytic nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000995
25 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
26 weight loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0001824
27 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
28 abdominal pain 59 32 occasional (7.5%) Occasional (29-5%) HP:0002027
29 anorexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002039
30 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
31 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
32 basal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002671
33 squamous cell carcinoma of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0006739
34 fatigue 59 32 occasional (7.5%) Occasional (29-5%) HP:0012378
35 hypopigmentation of the skin 59 Very frequent (99-80%)
36 abnormal bleeding 59 Very frequent (99-80%)
37 iris hypopigmentation 59 Very frequent (99-80%)
38 thickened skin 59 Occasional (29-5%)
39 abnormality of thrombocytes 59 Occasional (29-5%)
40 abnormal thrombocyte morphology 32 occasional (7.5%) HP:0001872

UMLS symptoms related to Hermansky-Pudlak Syndrome:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.22 TYR TYRP1 HPS1 HPS5 HPS6 HPS4
2 homeostasis/metabolism MP:0005376 10.21 TYRP1 HPS6 TYR HPS4 HPS1 HPS5
3 hematopoietic system MP:0005397 10.2 TYRP1 HPS1 HPS5 HPS3 HPS6 DTNBP1
4 growth/size/body region MP:0005378 10.19 TYRP1 HPS6 TYR HPS4 HPS1 HPS5
5 behavior/neurological MP:0005386 10.15 TYRP1 TYR DTNBP1 AP3D1 BLOC1S3 AP3B1
6 integument MP:0010771 10.15 TYR TYRP1 HPS1 HPS5 HPS3 HPS6
7 cellular MP:0005384 10.13 TYRP1 TYR HPS4 HPS1 AP3D1 BLOC1S3
8 craniofacial MP:0005382 10.11 TYRP1 HPS6 TYR HPS4 HPS1 HPS5
9 cardiovascular system MP:0005385 10.08 HPS6 TYR HPS4 HPS1 HPS5 AP3B1
10 immune system MP:0005387 10.06 HPS6 TYR DTNBP1 HPS1 HPS5 HPS3
11 pigmentation MP:0001186 9.93 TYR TYRP1 HPS1 HPS5 HPS3 HPS6
12 limbs/digits/tail MP:0005371 9.8 TYR HPS1 HPS5 BLOC1S3 AP3B1 BLOC1S6
13 no phenotypic analysis MP:0003012 9.65 TYR HPS1 HPS5 HPS3 AP3B1
14 renal/urinary system MP:0005367 9.65 TYR HPS1 HPS5 HPS6 DTNBP1 HPS4
15 vision/eye MP:0005391 9.4 TYR TYRP1 HPS1 HPS5 HPS3 HPS6

Drugs & Therapeutics for Hermansky-Pudlak Syndrome

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
2 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin
3 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
4 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
5 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
6 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
7 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520

Search NIH Clinical Center for Hermansky-Pudlak Syndrome

Cochrane evidence based reviews: hermanski-pudlak syndrome

Genetic Tests for Hermansky-Pudlak Syndrome

Genetic tests related to Hermansky-Pudlak Syndrome:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 29

Anatomical Context for Hermansky-Pudlak Syndrome

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome:

41
Skin, Eye, Kidney, Retina, Lung, Testes, Neutrophil

Publications for Hermansky-Pudlak Syndrome

Articles related to Hermansky-Pudlak Syndrome:

(show top 50) (show all 331)
# Title Authors Year
1
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. ( 29054114 )
2018
2
Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease. ( 29427412 )
2018
3
Hermansky-Pudlak syndrome with a novel genetic variant in <i>HPS1</i> and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases. ( 29941477 )
2018
4
Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation. ( 29547626 )
2018
5
Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood. ( 29580292 )
2018
6
A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4. ( 29108692 )
2018
7
Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype. ( 29090612 )
2018
8
Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype. ( 28144619 )
2017
9
Novel mutation in two brothers with Hermansky Pudlak syndrome type 3. ( 28284561 )
2017
10
Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome. ( 27766632 )
2017
11
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. ( 28585318 )
2017
12
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9. ( 28475864 )
2017
13
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. ( 28296950 )
2017
14
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. ( 28289846 )
2017
15
Erratum: Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. ( 28035873 )
2017
16
Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations. ( 29044644 )
2017
17
Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis. ( 27459687 )
2016
18
Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky-Pudlak syndrome. ( 26839694 )
2016
19
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula. ( 26785811 )
2016
20
Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. ( 27333462 )
2016
21
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. ( 27917594 )
2016
22
Hermansky-Pudlak syndrome in pregnancy: A case report. ( 27829879 )
2016
23
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
24
Management of Hermansky-Pudlak syndrome in pregnancy and review of literature. ( 27856532 )
2016
25
no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development. ( 27595926 )
2016
26
Epithelial-macrophage interactions determine pulmonary fibrosis susceptibility in Hermansky-Pudlak syndrome. ( 27777976 )
2016
27
Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs). ( 27345974 )
2016
28
Case of Japanese Hermansky-Pudlak syndrome patient with deeply invasive squamous cell carcinoma and multiple lesions of actinic keratosis on the face and neck. ( 27178242 )
2016
29
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. ( 26744459 )
2016
30
The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome. ( 27358286 )
2016
31
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. ( 27529121 )
2016
32
MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro. ( 26719147 )
2016
33
The ophthalmic presentation of Hermansky-Pudlak syndrome 6. ( 26823395 )
2016
34
NGS-based 100-gene Panel of Hypopigmentation Identifies Mutations in Chinese Hermansky-Pudlak Syndrome Patients. ( 27593200 )
2016
35
Hermansky-Pudlak Syndrome. ( 27514596 )
2016
36
Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs). ( 27345985 )
2016
37
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. ( 26575419 )
2015
38
Management of tooth extraction in a patient with a rare bleeding disorder associated with Hermansky-Pudlak syndrome: a case report. ( 25579005 )
2015
39
Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome. ( 25593336 )
2015
40
Anesthetic management of a patient with Hermansky-Pudlak syndrome undergoing video-assisted bullectomy. ( 25547825 )
2015
41
Defective release of I+ granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. ( 25477496 )
2015
42
Unexpected intra-operative bleeding due to Hermansky-Pudlak Syndrome. ( 26195845 )
2015
43
Circulating fibrocytes as a biomarker of prognosis in Hermansky-Pudlak syndrome. ( 26029843 )
2015
44
Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease. ( 26121745 )
2015
45
In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer. ( 25468649 )
2015
46
Reply: circulating fibrocytes as a biomarker of prognosis in Hermansky-Pudlak syndrome. ( 26029844 )
2015
47
Case of Hermansky-Pudlak syndrome 1 in a Japanese infant. ( 25988314 )
2015
48
Hermansky-Pudlak Syndrome: High-Resolution Computed Tomography Findings and Literature Review. ( 25728501 )
2015
49
A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome. ( 26078655 )
2014
50
A Turkish patient with Hermansky-Pudlak syndrome. ( 25632653 )
2014

Variations for Hermansky-Pudlak Syndrome

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome:

6
(show top 50) (show all 968)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPS1 NM_000195.4(HPS1): c.1472_1487dup16 (p.His497Glnfs) duplication Pathogenic rs281865163 GRCh37 Chromosome 10, 100183555: 100183570
2 HPS1 NM_000195.4(HPS1): c.1472_1487dup16 (p.His497Glnfs) duplication Pathogenic rs281865163 GRCh38 Chromosome 10, 98423798: 98423813
3 HPS1 NM_000195.4(HPS1): c.972dupC (p.Met325Hisfs) duplication Pathogenic rs281865083 GRCh38 Chromosome 10, 98427230: 98427230
4 HPS1 NM_000195.4(HPS1): c.972dupC (p.Met325Hisfs) duplication Pathogenic rs281865083 GRCh37 Chromosome 10, 100186987: 100186987
5 HPS1 NM_000195.4(HPS1): c.1189delC (p.Gln397Serfs) deletion Likely pathogenic rs281865084 GRCh37 Chromosome 10, 100185444: 100185444
6 HPS1 NM_000195.4(HPS1): c.1189delC (p.Gln397Serfs) deletion Likely pathogenic rs281865084 GRCh38 Chromosome 10, 98425687: 98425687
7 HPS3 NM_032383.4(HPS3): c.981A> G (p.Thr327=) single nucleotide variant Benign rs11718908 GRCh37 Chromosome 3, 148863151: 148863151
8 HPS3 NM_032383.4(HPS3): c.981A> G (p.Thr327=) single nucleotide variant Benign rs11718908 GRCh38 Chromosome 3, 149145364: 149145364
9 HPS3 NM_032383.4(HPS3): c.1494G> A (p.Gln498=) single nucleotide variant Benign rs6440589 GRCh37 Chromosome 3, 148872987: 148872987
10 HPS3 NM_032383.4(HPS3): c.1494G> A (p.Gln498=) single nucleotide variant Benign rs6440589 GRCh38 Chromosome 3, 149155200: 149155200
11 HPS3 NM_032383.4(HPS3): c.970+7A> G single nucleotide variant Benign/Likely benign rs114029765 GRCh37 Chromosome 3, 148859174: 148859174
12 HPS3 NM_032383.4(HPS3): c.970+7A> G single nucleotide variant Benign/Likely benign rs114029765 GRCh38 Chromosome 3, 149141387: 149141387
13 HPS3 NM_032383.4(HPS3): c.1479G> A (p.Thr493=) single nucleotide variant Benign/Likely benign rs34197730 GRCh37 Chromosome 3, 148872972: 148872972
14 HPS3 NM_032383.4(HPS3): c.1479G> A (p.Thr493=) single nucleotide variant Benign/Likely benign rs34197730 GRCh38 Chromosome 3, 149155185: 149155185
15 HPS3 NM_032383.4(HPS3): c.2526C> T (p.His842=) single nucleotide variant Benign rs3732557 GRCh37 Chromosome 3, 148881673: 148881673
16 HPS3 NM_032383.4(HPS3): c.2526C> T (p.His842=) single nucleotide variant Benign rs3732557 GRCh38 Chromosome 3, 149163886: 149163886
17 AP3B1 NM_003664.4(AP3B1): c.2016T> C (p.Ala672=) single nucleotide variant Benign rs42360 GRCh37 Chromosome 5, 77412011: 77412011
18 AP3B1 NM_003664.4(AP3B1): c.2016T> C (p.Ala672=) single nucleotide variant Benign rs42360 GRCh38 Chromosome 5, 78116187: 78116187
19 AP3B1 NM_003664.4(AP3B1): c.1754T> A (p.Val585Glu) single nucleotide variant Benign rs6453373 GRCh37 Chromosome 5, 77425028: 77425028
20 AP3B1 NM_003664.4(AP3B1): c.1754T> A (p.Val585Glu) single nucleotide variant Benign rs6453373 GRCh38 Chromosome 5, 78129204: 78129204
21 AP3B1 NM_003664.4(AP3B1): c.1317T> G (p.Thr439=) single nucleotide variant Conflicting interpretations of pathogenicity rs75248449 GRCh37 Chromosome 5, 77458689: 77458689
22 AP3B1 NM_003664.4(AP3B1): c.1317T> G (p.Thr439=) single nucleotide variant Conflicting interpretations of pathogenicity rs75248449 GRCh38 Chromosome 5, 78162865: 78162865
23 DTNBP1 NM_032122.4(DTNBP1): c.814C> T (p.Pro272Ser) single nucleotide variant Benign/Likely benign rs17470454 GRCh37 Chromosome 6, 15523448: 15523448
24 DTNBP1 NM_032122.4(DTNBP1): c.814C> T (p.Pro272Ser) single nucleotide variant Benign/Likely benign rs17470454 GRCh38 Chromosome 6, 15523217: 15523217
25 DTNBP1 NM_032122.4(DTNBP1): c.356-7C> T single nucleotide variant Benign rs3829893 GRCh37 Chromosome 6, 15615637: 15615637
26 DTNBP1 NM_032122.4(DTNBP1): c.356-7C> T single nucleotide variant Benign rs3829893 GRCh38 Chromosome 6, 15615406: 15615406
27 AP3B1 NM_003664.4(AP3B1): c.2409_2411delGAA (p.Lys804del) deletion Benign/Likely benign rs199702315 GRCh37 Chromosome 5, 77396836: 77396838
28 AP3B1 NM_003664.4(AP3B1): c.2409_2411delGAA (p.Lys804del) deletion Benign/Likely benign rs199702315 GRCh38 Chromosome 5, 78101012: 78101014
29 AP3B1 NM_003664.4(AP3B1): c.1969-10G> A single nucleotide variant Benign/Likely benign rs77009095 GRCh37 Chromosome 5, 77412068: 77412068
30 AP3B1 NM_003664.4(AP3B1): c.1969-10G> A single nucleotide variant Benign/Likely benign rs77009095 GRCh38 Chromosome 5, 78116244: 78116244
31 AP3B1 NM_003664.4(AP3B1): c.1683C> T (p.Leu561=) single nucleotide variant Benign/Likely benign rs17192146 GRCh37 Chromosome 5, 77425099: 77425099
32 AP3B1 NM_003664.4(AP3B1): c.1683C> T (p.Leu561=) single nucleotide variant Benign/Likely benign rs17192146 GRCh38 Chromosome 5, 78129275: 78129275
33 AP3B1 NM_003664.4(AP3B1): c.1038T> C (p.Asn346=) single nucleotide variant Benign rs4532349 GRCh37 Chromosome 5, 77473165: 77473165
34 AP3B1 NM_003664.4(AP3B1): c.1038T> C (p.Asn346=) single nucleotide variant Benign rs4532349 GRCh38 Chromosome 5, 78177341: 78177341
35 HPS6 NM_024747.5(HPS6): c.99A> G (p.Arg33=) single nucleotide variant Benign/Likely benign rs139591041 GRCh37 Chromosome 10, 103825330: 103825330
36 HPS6 NM_024747.5(HPS6): c.99A> G (p.Arg33=) single nucleotide variant Benign/Likely benign rs139591041 GRCh38 Chromosome 10, 102065573: 102065573
37 HPS6 NM_024747.5(HPS6): c.516G> A (p.Gly172=) single nucleotide variant Benign/Likely benign rs3737243 GRCh37 Chromosome 10, 103825747: 103825747
38 HPS6 NM_024747.5(HPS6): c.516G> A (p.Gly172=) single nucleotide variant Benign/Likely benign rs3737243 GRCh38 Chromosome 10, 102065990: 102065990
39 HPS1 NM_000195.4(HPS1): c.1397+8G> T single nucleotide variant Benign rs2296433 GRCh37 Chromosome 10, 100184062: 100184062
40 HPS1 NM_000195.4(HPS1): c.1397+8G> T single nucleotide variant Benign rs2296433 GRCh38 Chromosome 10, 98424305: 98424305
41 HPS1 NM_000195.4(HPS1): c.636C> T (p.Leu212=) single nucleotide variant Benign rs1801287 GRCh37 Chromosome 10, 100190920: 100190920
42 HPS1 NM_000195.4(HPS1): c.636C> T (p.Leu212=) single nucleotide variant Benign rs1801287 GRCh38 Chromosome 10, 98431163: 98431163
43 HPS1 NM_000195.4(HPS1): c.297C> T (p.Thr99=) single nucleotide variant Benign/Likely benign rs11539873 GRCh37 Chromosome 10, 100195130: 100195130
44 HPS1 NM_000195.4(HPS1): c.297C> T (p.Thr99=) single nucleotide variant Benign/Likely benign rs11539873 GRCh38 Chromosome 10, 98435373: 98435373
45 HPS1 NM_000195.4(HPS1): c.1599-15A> G single nucleotide variant Benign rs2296435 GRCh37 Chromosome 10, 100182285: 100182285
46 HPS1 NM_000195.4(HPS1): c.1599-15A> G single nucleotide variant Benign rs2296435 GRCh38 Chromosome 10, 98422528: 98422528
47 HPS1 NM_000195.4(HPS1): c.1397+7G> C single nucleotide variant Benign rs2296432 GRCh37 Chromosome 10, 100184063: 100184063
48 HPS1 NM_000195.4(HPS1): c.1397+7G> C single nucleotide variant Benign rs2296432 GRCh38 Chromosome 10, 98424306: 98424306
49 HPS1 NM_000195.4(HPS1): c.11T> C (p.Val4Ala) single nucleotide variant Benign/Likely benign rs58548334 GRCh37 Chromosome 10, 100202987: 100202987
50 HPS1 NM_000195.4(HPS1): c.11T> C (p.Val4Ala) single nucleotide variant Benign/Likely benign rs58548334 GRCh38 Chromosome 10, 98443230: 98443230

Expression for Hermansky-Pudlak Syndrome

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome.

Pathways for Hermansky-Pudlak Syndrome

Pathways related to Hermansky-Pudlak Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS4
2
Show member pathways
11.64 AP3B1 BLOC1S3 BLOC1S6 DTNBP1
3 11.52 AP3B1 AP3D1 CD63
4 9.32 TYR TYRP1

GO Terms for Hermansky-Pudlak Syndrome

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.85 AP3B1 DTNBP1 HPS1 HPS4
2 endosome GO:0005768 9.84 BLOC1S6 CD63 DTNBP1 HPS6
3 lysosome GO:0005764 9.8 CD63 HPS1 HPS4 HPS6 TYR
4 lysosomal membrane GO:0005765 9.76 AP3B1 AP3D1 CD63 HPS6
5 endosome membrane GO:0010008 9.73 AP3D1 CD63 DTNBP1 TYRP1
6 melanosome GO:0042470 9.62 CD63 HPS4 TYR TYRP1
7 membrane coat GO:0030117 9.49 AP3B1 AP3D1
8 AP-3 adaptor complex GO:0030123 9.48 AP3B1 AP3D1
9 BLOC-1 complex GO:0031083 9.43 BLOC1S3 BLOC1S6 DTNBP1
10 BLOC-3 complex GO:0031085 9.37 HPS1 HPS4
11 melanosome membrane GO:0033162 9.33 DTNBP1 TYR TYRP1
12 BLOC-2 complex GO:0031084 9.13 HPS3 HPS5 HPS6
13 axon cytoplasm GO:1904115 9.02 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1
14 cytoplasm GO:0005737 10.22 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3
15 cytosol GO:0005829 10.16 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3 HPS4

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.91 AP3B1 BLOC1S6 DTNBP1 HPS4 HPS5 HPS6
2 neuron projection development GO:0031175 9.73 BLOC1S3 BLOC1S6 DTNBP1
3 anterograde axonal transport GO:0008089 9.72 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1
4 melanocyte differentiation GO:0030318 9.71 BLOC1S6 HPS4 HPS6 TYRP1
5 endosome to melanosome transport GO:0035646 9.67 AP3D1 BLOC1S3 BLOC1S6 CD63
6 anterograde synaptic vesicle transport GO:0048490 9.65 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1
7 antigen processing and presentation GO:0019882 9.58 AP3B1 AP3D1
8 lysosome organization GO:0007040 9.58 HPS1 HPS4
9 melanosome transport GO:0032402 9.57 BLOC1S3 BLOC1S6
10 protein localization to membrane GO:0072657 9.55 AP3D1 HPS6
11 organelle organization GO:0006996 9.55 DTNBP1 HPS3 HPS4 HPS5 HPS6
12 melanin biosynthetic process GO:0042438 9.54 TYR TYRP1
13 platelet dense granule organization GO:0060155 9.52 BLOC1S3 DTNBP1
14 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.51 AP3B1 AP3D1
15 melanosome assembly GO:1903232 9.49 HPS1 HPS4
16 eye pigment biosynthetic process GO:0006726 9.48 AP3D1 TYR
17 positive regulation of NK T cell differentiation GO:0051138 9.46 AP3B1 AP3D1
18 melanosome organization GO:0032438 9.43 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 TYRP1
19 pigmentation GO:0043473 9.23 BLOC1S3 BLOC1S6 CD63 HPS3 HPS5 HPS6

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

# Name GO ID Score Top Affiliating Genes
1 GTP-dependent protein binding GO:0030742 8.62 AP3B1 HPS6

Sources for Hermansky-Pudlak Syndrome

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