MCID: HRM001
MIFTS: 61

Hermansky-Pudlak Syndrome

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

Aliases & Classifications for Hermansky-Pudlak Syndrome

MalaCards integrated aliases for Hermansky-Pudlak Syndrome:

Name: Hermansky-Pudlak Syndrome 12 23 50 24 25 56 29 52 14
Hps 12 50 25 56
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 50 69
Hermanski-Pudlak Syndrome 42 69
Platelet Storage Pool Deficiency 69
Delta Storage Pool Disease 50
Hermansky Pudlak Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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 chediak-higashi syndrome and hermansky-pudlak syndrome 1, and has symptoms including renal insufficiency, epistaxis and astigmatism. An important gene associated with Hermansky-Pudlak Syndrome is HPS6 (HPS6, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3), and among its related pathways/superpathways are Vesicle-mediated transport and Clathrin derived vesicle budding. The drugs Acetylcysteine and Erythromycin have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and kidney, and related phenotypes are growth/size/body region and homeostasis/metabolism

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.

GeneReviews: NBK1287

Related Diseases for Hermansky-Pudlak Syndrome

Diseases in the Hermansky-Pudlak Syndrome family:

Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 2
Hermansky-Pudlak Syndrome 7 Hermansky-Pudlak Syndrome 1
Hermansky-Pudlak Syndrome 6 Hermansky-Pudlak Syndrome 5
Hermansky-Pudlak Syndrome 9 Hermansky-Pudlak Syndrome 10
Hermansky-Pudlak Syndrome 8 Hermansky-Pudlak Syndrome 4

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

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 chediak-higashi syndrome 29.6 HPS1 TYR TYRP1
2 hermansky-pudlak syndrome 1 12.7
3 hermansky-pudlak syndrome 5 12.7
4 hermansky-pudlak syndrome 4 12.7
5 hermansky-pudlak syndrome 6 12.6
6 hermansky-pudlak syndrome 3 12.6
7 hermansky-pudlak syndrome 2 12.6
8 hermansky-pudlak syndrome 7 12.5
9 hermansky-pudlak syndrome 9 12.5
10 hermansky-pudlak syndrome 8 12.5
11 hermansky-pudlak syndrome 10 12.5
12 hermansky-pudlak syndrome with pulmonary fibrosis 12.2
13 isolated delta-storage pool disease 12.2
14 hermansky-pudlak syndrome without pulmonary fibrosis 12.1
15 hantavirus pulmonary syndrome 11.8
16 albinism, oculocutaneous, type ib 11.1
17 storage pool platelet disease 11.1
18 pulmonary fibrosis 10.7
19 albinism 10.6
20 colitis 10.5
21 oculocutaneous albinism 10.4
22 pharyngeal-cervical-brachial variant of guillain-barré syndrome 10.4 HPS1 HPS4
23 pneumonia 10.4
24 ectodermal dysplasia 5, hair/nail type 10.4 HPS5 HPS6
25 lung disease 10.3
26 paraparetic variant of guillain-barré syndrome 10.2 HPS3 HPS5 HPS6
27 interstitial lung disease 10.2
28 diffuse pulmonary fibrosis 10.2
29 gnathodiaphyseal dysplasia 10.2 HPS5 HPS6
30 crohn's disease 10.1
31 hemophagocytic lymphohistiocytosis 10.1
32 neuronitis 10.1
33 thrombasthenia 10.1
34 mosaic variegated aneuploidy syndrome 1 10.0 BLOC1S6 CD63
35 schizophrenia 10.0
36 systemic lupus erythematosus 10.0
37 lung cancer 10.0
38 hiv-1 10.0
39 neuronal ceroid-lipofuscinoses 10.0
40 glomerulonephritis 10.0
41 pulmonary sarcoidosis 10.0
42 acrofacial dysostosis 10.0
43 thrombosis 10.0
44 pulmonary alveolar proteinosis 10.0
45 crescentic glomerulonephritis 10.0
46 keratosis 10.0
47 pneumothorax 10.0
48 squamous cell carcinoma 10.0
49 melanoma 10.0
50 dysostosis 10.0

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:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0000083
2 epistaxis 56 32 frequent (33%) Frequent (79-30%) HP:0000421
3 astigmatism 56 32 frequent (33%) Frequent (79-30%) HP:0000483
4 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
5 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
6 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
7 long eyelashes 56 32 occasional (7.5%) Occasional (29-5%) HP:0000527
8 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
9 abnormality of the optic nerve 56 32 frequent (33%) Frequent (79-30%) HP:0000587
10 photophobia 56 32 frequent (33%) Frequent (79-30%) HP:0000613
11 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
12 abnormality of visual evoked potentials 56 32 frequent (33%) Frequent (79-30%) HP:0000649
13 abnormality of dental enamel 56 32 occasional (7.5%) Occasional (29-5%) HP:0000682
14 hyperkeratosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000962
15 bruising susceptibility 56 32 frequent (33%) Frequent (79-30%) HP:0000978
16 melanocytic nevus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000995
17 ocular albinism 56 32 frequent (33%) Frequent (79-30%) HP:0001107
18 cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001638
19 weight loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0001824
20 abnormality of thrombocytes 56 32 occasional (7.5%) Occasional (29-5%) HP:0001872
21 neutropenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001875
22 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
23 abdominal pain 56 32 occasional (7.5%) Occasional (29-5%) HP:0002027
24 anorexia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002039
25 dyspnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002094
26 pulmonary fibrosis 56 32 frequent (33%) Frequent (79-30%) HP:0002206
27 gastrointestinal hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002239
28 basal cell carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002671
29 immunodeficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0002721
30 hypopigmentation of hair 56 32 frequent (33%) Frequent (79-30%) HP:0005599
31 squamous cell carcinoma of the skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0006739
32 partial albinism 56 32 hallmark (90%) Very frequent (99-80%) HP:0007443
33 fatigue 56 32 occasional (7.5%) Occasional (29-5%) HP:0012378
34 crohn's disease 56 32 occasional (7.5%) Occasional (29-5%) HP:0100280
35 menometrorrhagia 56 32 frequent (33%) Frequent (79-30%) HP:0400008
36 hypopigmentation of the skin 56 Very frequent (99-80%)
37 thickened skin 56 Occasional (29-5%)
38 abnormal bleeding 56 Very frequent (99-80%)
39 iris hypopigmentation 56 Very frequent (99-80%)

UMLS symptoms related to Hermansky-Pudlak Syndrome:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 AP3B1 AP3D1 BLOC1S3 BLOC1S6 HPS1 HPS4
2 homeostasis/metabolism MP:0005376 10.18 HPS1 HPS3 HPS4 HPS5 HPS6 TYR
3 hearing/vestibular/ear MP:0005377 10.16 AP3D1 BLOC1S3 BLOC1S6 HPS1 HPS4 HPS5
4 behavior/neurological MP:0005386 10.13 AP3B1 AP3D1 BLOC1S3 BLOC1S6 CD63 DTNBP1
5 hematopoietic system MP:0005397 10.13 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1
6 craniofacial MP:0005382 10.1 AP3B1 BLOC1S3 HPS1 HPS4 HPS5 HPS6
7 integument MP:0010771 10.1 HPS4 HPS5 HPS6 TYR TYRP1 AP3B1
8 cardiovascular system MP:0005385 10.05 AP3B1 BLOC1S6 HPS1 HPS4 HPS5 HPS6
9 immune system MP:0005387 10.02 AP3B1 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3
10 pigmentation MP:0001186 9.93 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1
11 limbs/digits/tail MP:0005371 9.73 BLOC1S6 HPS1 HPS5 TYR AP3B1 BLOC1S3
12 renal/urinary system MP:0005367 9.65 AP3B1 AP3D1 BLOC1S6 CD63 DTNBP1 HPS1
13 vision/eye MP:0005391 9.4 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1

Drugs & Therapeutics for Hermansky-Pudlak Syndrome

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

(show all 41)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
2
Erythromycin Approved, Vet_approved Phase 1, Phase 2 114-07-8 12560
3
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
4
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
5
Pirfenidone Investigational Phase 2 53179-13-8 40632
6
Angiotensin II Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
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:


id 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:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 29 24 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome:

39
Skin, Eye, Kidney, Retina, Lung, Testes, Neutrophil

Publications for Hermansky-Pudlak Syndrome

Articles related to Hermansky-Pudlak Syndrome:

(show top 50) (show all 321)
id Title Authors Year
1
Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome. ( 27766632 )
2017
2
Novel mutation in two brothers with Hermansky Pudlak syndrome type 3. ( 28284561 )
2017
3
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. ( 28289846 )
2017
4
Erratum: Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. ( 28035873 )
2017
5
Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype. ( 28144619 )
2017
6
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. ( 28296950 )
2017
7
Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils. ( 28585318 )
2017
8
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9. ( 28475864 )
2017
9
Hermansky-Pudlak Syndrome. ( 27514596 )
2016
10
NGS-based 100-gene Panel of Hypopigmentation Identifies Mutations in Chinese Hermansky-Pudlak Syndrome Patients. ( 27593200 )
2016
11
Management of Hermansky-Pudlak syndrome in pregnancy and review of literature. ( 27856532 )
2016
12
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. ( 27529121 )
2016
13
Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky-Pudlak syndrome. ( 26839694 )
2016
14
Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis. ( 27459687 )
2016
15
Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. ( 27333462 )
2016
16
Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism. ( 27176668 )
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
Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs). ( 27345985 )
2016
19
Epithelial-macrophage interactions determine pulmonary fibrosis susceptibility in Hermansky-Pudlak syndrome. ( 27777976 )
2016
20
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula. ( 26785811 )
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
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
23
The ophthalmic presentation of Hermansky-Pudlak syndrome 6. ( 26823395 )
2016
24
The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome. ( 27358286 )
2016
25
Hermansky-Pudlak syndrome in pregnancy: A case report. ( 27829879 )
2016
26
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. ( 26744459 )
2016
27
Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs). ( 27345974 )
2016
28
MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro. ( 26719147 )
2016
29
Unexpected intra-operative bleeding due to Hermansky-Pudlak Syndrome. ( 26195845 )
2015
30
Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease. ( 26121745 )
2015
31
Anesthetic management of a patient with Hermansky-Pudlak syndrome undergoing video-assisted bullectomy. ( 25547825 )
2015
32
Case of Hermansky-Pudlak syndrome 1 in a Japanese infant. ( 25988314 )
2015
33
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. ( 26575419 )
2015
34
Circulating fibrocytes as a biomarker of prognosis in Hermansky-Pudlak syndrome. ( 26029843 )
2015
35
In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer. ( 25468649 )
2015
36
Management of tooth extraction in a patient with a rare bleeding disorder associated with Hermansky-Pudlak syndrome: a case report. ( 25579005 )
2015
37
Reply: circulating fibrocytes as a biomarker of prognosis in Hermansky-Pudlak syndrome. ( 26029844 )
2015
38
Defective release of I+ granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. ( 25477496 )
2015
39
Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome. ( 25593336 )
2015
40
Hermansky-Pudlak Syndrome: High-Resolution Computed Tomography Findings and Literature Review. ( 25728501 )
2015
41
Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome. ( 25347450 )
2014
42
Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3). ( 24766090 )
2014
43
Case of Hermansky-Pudlak syndrome 1 patient with milder symptoms in Japanese. ( 24479888 )
2014
44
A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome. ( 26078655 )
2014
45
Hermansky-Pudlak syndrome type 4 with a novel mutation. ( 24433314 )
2014
46
The unique association of iris heterochromia with Hermansky Pudlak syndrome. ( 24698630 )
2014
47
Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia. ( 24583434 )
2014
48
Hermansky-pudlak syndrome: a case report. ( 24707413 )
2014
49
An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment. ( 25447654 )
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
id 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

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 GeneCards Suite gene sharing:

id 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)
id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.85 AP3B1 DTNBP1 HPS1 HPS4
2 endosome GO:0005768 9.83 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 10.24 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)
id 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 9.17 BLOC1S3 BLOC1S6 HPS3 HPS5 HPS6 TYR

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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