MCID: HRM001
MIFTS: 62

Hermansky-Pudlak Syndrome

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

Aliases & Classifications for Hermansky-Pudlak Syndrome

MalaCards integrated aliases for Hermansky-Pudlak Syndrome:

Name: Hermansky-Pudlak Syndrome 12 72 23 49 24 55 36 28 51 14
Hps 12 49 24 55
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 49 69
Hermanski-Pudlak Syndrome 41 69
Platelet Storage Pool Deficiency 69
Delta Storage Pool Disease 49
Hermansky Pudlak Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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. Last updated: 1/15/2016

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 nystagmus, neutropenia and immunodeficiency. An important gene associated with Hermansky-Pudlak Syndrome is HPS5 (HPS5, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2), 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 hearing/vestibular/ear and growth/size/body region

Genetics Home Reference : 24 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.

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.

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 71)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 6 34.5 HPS5 HPS6
2 hermansky-pudlak syndrome 5 34.3 HPS5 HPS6
3 hermansky-pudlak syndrome 9 34.1 BLOC1S6 CD63
4 hermansky-pudlak syndrome with pulmonary fibrosis 34.0 HPS1 HPS4
5 hermansky-pudlak syndrome without pulmonary fibrosis 33.5 HPS3 HPS5 HPS6
6 hermansky-pudlak syndrome 1 33.0 AP3B1 DTNBP1 HPS1 HPS4 TYR
7 hermansky-pudlak syndrome 3 32.9 HPS3 HPS5 HPS6 TYR TYRP1
8 storage pool platelet disease 31.7 AP3B1 BLOC1S6 HPS3 HPS4 HPS6
9 pulmonary fibrosis 30.7 HPS1 HPS3 HPS4 HPS5 HPS6
10 albinism 30.0 HPS1 HPS4 TYR TYRP1
11 chediak-higashi syndrome 29.9 HPS1 TYR TYRP1
12 oculocutaneous albinism 28.6 AP3B1 BLOC1S3 HPS3 HPS4 HPS6 TYR
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 11.6
22 hepatopulmonary syndrome 11.4
23 albinism, oculocutaneous, type ib 11.3
24 fibrosis of extraocular muscles, congenital, 1 10.7
25 colitis 10.5
26 dilution, pigmentary 10.5
27 pneumonia 10.5
28 lung disease 10.4
29 interstitial lung disease 10.3
30 diffuse pulmonary fibrosis 10.3
31 enterocolitis 10.2
32 autoinflammation with infantile enterocolitis 10.2
33 crohn's disease 10.2
34 hemophagocytic lymphohistiocytosis 10.2
35 gastrointestinal system disease 10.2
36 neuronitis 10.2
37 thrombasthenia 10.2
38 blood group, i system 10.1
39 systemic lupus erythematosus 10.1
40 schizophrenia 10.1
41 albinism, oculocutaneous, type ia 10.1
42 lung cancer 10.1
43 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.1
44 bernard-soulier syndrome 10.1
45 neuronal ceroid-lipofuscinoses 10.1
46 chronic kidney failure 10.1
47 glomerulonephritis 10.1
48 pulmonary sarcoidosis 10.1
49 acrofacial dysostosis 10.1
50 thrombosis 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:

55 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 neutropenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001875
3 immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002721
4 partial albinism 55 31 hallmark (90%) Very frequent (99-80%) HP:0007443
5 renal insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0000083
6 epistaxis 55 31 frequent (33%) Frequent (79-30%) HP:0000421
7 astigmatism 55 31 frequent (33%) Frequent (79-30%) HP:0000483
8 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
9 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
10 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
11 abnormality of the optic nerve 55 31 frequent (33%) Frequent (79-30%) HP:0000587
12 photophobia 55 31 frequent (33%) Frequent (79-30%) HP:0000613
13 amblyopia 55 31 frequent (33%) Frequent (79-30%) HP:0000646
14 abnormality of visual evoked potentials 55 31 frequent (33%) Frequent (79-30%) HP:0000649
15 bruising susceptibility 55 31 frequent (33%) Frequent (79-30%) HP:0000978
16 ocular albinism 55 31 frequent (33%) Frequent (79-30%) HP:0001107
17 pulmonary fibrosis 55 31 frequent (33%) Frequent (79-30%) HP:0002206
18 hypopigmentation of hair 55 31 frequent (33%) Frequent (79-30%) HP:0005599
19 menometrorrhagia 55 31 frequent (33%) Frequent (79-30%) HP:0400008
20 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
21 long eyelashes 55 31 occasional (7.5%) Occasional (29-5%) HP:0000527
22 abnormality of dental enamel 55 31 occasional (7.5%) Occasional (29-5%) HP:0000682
23 hyperkeratosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000962
24 melanocytic nevus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000995
25 cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001638
26 weight loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0001824
27 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
28 abdominal pain 55 31 occasional (7.5%) Occasional (29-5%) HP:0002027
29 anorexia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002039
30 dyspnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002094
31 gastrointestinal hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002239
32 basal cell carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002671
33 squamous cell carcinoma of the skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0006739
34 fatigue 55 31 occasional (7.5%) Occasional (29-5%) HP:0012378
35 hypopigmentation of the skin 55 Very frequent (99-80%)
36 abnormal bleeding 55 Very frequent (99-80%)
37 iris hypopigmentation 55 Very frequent (99-80%)
38 thickened skin 55 Occasional (29-5%)
39 abnormality of thrombocytes 55 Occasional (29-5%)
40 abnormal thrombocyte morphology 31 occasional (7.5%) HP:0001872

UMLS symptoms related to Hermansky-Pudlak Syndrome:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 10.2 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1
2 growth/size/body region MP:0005378 10.18 AP3B1 AP3D1 BLOC1S3 BLOC1S6 HPS1 HPS4
3 homeostasis/metabolism MP:0005376 10.18 CD63 DTNBP1 HPS1 HPS3 HPS4 HPS5
4 hematopoietic system MP:0005397 10.17 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1
5 behavior/neurological MP:0005386 10.14 BLOC1S6 CD63 DTNBP1 TYR TYRP1 AP3B1
6 cellular MP:0005384 10.11 AP3B1 AP3D1 BLOC1S3 BLOC1S6 HPS1 HPS4
7 craniofacial MP:0005382 10.1 AP3B1 BLOC1S3 HPS1 HPS4 HPS5 HPS6
8 integument MP:0010771 10.1 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1
9 cardiovascular system MP:0005385 10.07 AP3B1 BLOC1S6 HPS1 HPS4 HPS5 HPS6
10 immune system MP:0005387 10.02 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3
11 pigmentation MP:0001186 9.93 HPS3 HPS4 HPS5 HPS6 TYR TYRP1
12 limbs/digits/tail MP:0005371 9.73 BLOC1S3 BLOC1S6 HPS1 HPS5 TYR AP3B1
13 renal/urinary system MP:0005367 9.65 AP3B1 AP3D1 BLOC1S6 CD63 DTNBP1 HPS1
14 vision/eye MP:0005391 9.4 TYRP1 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1

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
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
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 28

Anatomical Context for Hermansky-Pudlak Syndrome

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome:

38
Skin, Eye, Kidney, Retina, Lung, Testes, Neutrophil

Publications for Hermansky-Pudlak Syndrome

Articles related to Hermansky-Pudlak Syndrome:

(show top 50) (show all 326)
# Title Authors Year
1
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
2
Galectin-3 Interacts with the CHI3L1 Axis and Contributes to Hermansky-Pudlak Syndrome Lung Disease. ( 29427412 )
2018
3
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. ( 29054114 )
2018
4
A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4. ( 29108692 )
2018
5
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9. ( 28475864 )
2017
6
Erratum: Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. ( 28035873 )
2017
7
Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype. ( 28144619 )
2017
8
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. ( 28585318 )
2017
9
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. ( 28289846 )
2017
10
Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome. ( 27766632 )
2017
11
Novel mutation in two brothers with Hermansky Pudlak syndrome type 3. ( 28284561 )
2017
12
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. ( 28296950 )
2017
13
Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations. ( 29044644 )
2017
14
The ophthalmic presentation of Hermansky-Pudlak syndrome 6. ( 26823395 )
2016
15
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
2016
16
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. ( 27529121 )
2016
17
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
18
The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome. ( 27358286 )
2016
19
Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs). ( 27345985 )
2016
20
Hermansky-Pudlak Syndrome. ( 27514596 )
2016
21
Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis. ( 27459687 )
2016
22
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula. ( 26785811 )
2016
23
MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro. ( 26719147 )
2016
24
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. ( 27917594 )
2016
25
Hermansky-Pudlak syndrome in pregnancy: A case report. ( 27829879 )
2016
26
Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky-Pudlak syndrome. ( 26839694 )
2016
27
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. ( 26744459 )
2016
28
Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. ( 27333462 )
2016
29
Epithelial-macrophage interactions determine pulmonary fibrosis susceptibility in Hermansky-Pudlak syndrome. ( 27777976 )
2016
30
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
31
NGS-based 100-gene Panel of Hypopigmentation Identifies Mutations in Chinese Hermansky-Pudlak Syndrome Patients. ( 27593200 )
2016
32
Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs). ( 27345974 )
2016
33
Management of Hermansky-Pudlak syndrome in pregnancy and review of literature. ( 27856532 )
2016
34
In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer. ( 25468649 )
2015
35
Anesthetic management of a patient with Hermansky-Pudlak syndrome undergoing video-assisted bullectomy. ( 25547825 )
2015
36
Reply: circulating fibrocytes as a biomarker of prognosis in Hermansky-Pudlak syndrome. ( 26029844 )
2015
37
Unexpected intra-operative bleeding due to Hermansky-Pudlak Syndrome. ( 26195845 )
2015
38
Circulating fibrocytes as a biomarker of prognosis in Hermansky-Pudlak syndrome. ( 26029843 )
2015
39
Hermansky-Pudlak Syndrome: High-Resolution Computed Tomography Findings and Literature Review. ( 25728501 )
2015
40
Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease. ( 26121745 )
2015
41
Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome. ( 25593336 )
2015
42
Case of Hermansky-Pudlak syndrome 1 in a Japanese infant. ( 25988314 )
2015
43
Defective release of I+ granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. ( 25477496 )
2015
44
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. ( 26575419 )
2015
45
Management of tooth extraction in a patient with a rare bleeding disorder associated with Hermansky-Pudlak syndrome: a case report. ( 25579005 )
2015
46
Surgery for secondary pneumothorax caused by Hermansky-Pudlak syndrome. ( 25234801 )
2014
47
A Turkish patient with Hermansky-Pudlak syndrome. ( 25632653 )
2014
48
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. ( 24698632 )
2014
49
Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia. ( 24583434 )
2014
50
Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3). ( 24766090 )
2014

Variations for Hermansky-Pudlak Syndrome

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HPS1 NM_000195.4(HPS1): c.1189delC (p.Gln397Serfs) deletion Pathogenic/Likely pathogenic rs281865084 GRCh37 Chromosome 10, 100185444: 100185444
2 HPS4 NM_022081.5(HPS4): c.1132C> T (p.Gln378Ter) single nucleotide variant Likely pathogenic rs369053765 GRCh38 Chromosome 22, 26464498: 26464498

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
12.74 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 9.78 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 9.46 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 10.21 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3
15 cytosol GO:0005829 10.18 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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