HPS
MCID: HRM001
MIFTS: 59

Hermansky-Pudlak Syndrome (HPS) malady

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

Aliases & Classifications for Hermansky-Pudlak Syndrome

Aliases & Descriptions for Hermansky-Pudlak Syndrome:

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

Characteristics:

Orphanet epidemiological data:

56
hermansky-pudlak syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:3753
ICD10 33 E70.331
MeSH 42 D022861
NCIt 47 C37261
Orphanet 56 ORPHA79430
ICD10 via Orphanet 34 E70.3
UMLS 69 C0079504

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 hermansky-pudlak syndrome 1 and hermansky-pudlak syndrome 5, and has symptoms including fatigue, dyspnea and photophobia. 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 Pravastatin 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 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 69)
id Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 1 12.7
2 hermansky-pudlak syndrome 5 12.7
3 hermansky-pudlak syndrome 6 12.7
4 hermansky-pudlak syndrome 4 12.7
5 hermansky-pudlak syndrome 3 12.6
6 hermansky-pudlak syndrome 2 12.6
7 hermansky-pudlak syndrome 7 12.6
8 hermansky-pudlak syndrome 9 12.6
9 hermansky-pudlak syndrome 8 12.6
10 hermansky-pudlak syndrome with pulmonary fibrosis 12.2
11 isolated delta-storage pool disease 12.2
12 hermansky-pudlak syndrome without pulmonary fibrosis 12.1
13 hantavirus pulmonary syndrome 11.9
14 pancreatitis, hereditary 11.5
15 storage pool platelet disease 11.1
16 pulmonary fibrosis 10.6
17 albinism 10.6
18 colitis 10.5
19 oculocutaneous albinism 10.4
20 pneumonia 10.4
21 chediak-higashi syndrome 10.3
22 lung disease 10.3
23 interstitial lung disease 10.2
24 diffuse pulmonary fibrosis 10.2
25 familial cerebral saccular aneurysm 10.2 HPS1 HPS4
26 hypomagnesemia 6, renal 10.2 HPS5 HPS6
27 hemophagocytic lymphohistiocytosis 10.1
28 neuronitis 10.1
29 thrombasthenia 10.1
30 idiopathic hypercalciuria 10.1 HPS3 HPS5 HPS6
31 thyroid dyshormonogenesis 5 10.0 BLOC1S6 CD63
32 muscular dystrophy, limb-girdle, type 2l 10.0 HPS5 HPS6
33 schizophrenia 10.0
34 systemic lupus erythematosus 10.0
35 lung cancer 10.0
36 hiv-1 10.0
37 neuronal ceroid-lipofuscinoses 10.0
38 crohn's disease 10.0
39 glomerulonephritis 10.0
40 pulmonary sarcoidosis 10.0
41 acrofacial dysostosis 10.0
42 thrombosis 10.0
43 pulmonary alveolar proteinosis 10.0
44 crescentic glomerulonephritis 10.0
45 keratosis 10.0
46 pneumothorax 10.0
47 squamous cell carcinoma 10.0
48 melanoma 10.0
49 dysostosis 10.0
50 vaginitis 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 fatigue 56 32 Occasional (29-5%) HP:0012378
2 dyspnea 56 32 Occasional (29-5%) HP:0002094
3 photophobia 56 32 Frequent (79-30%) HP:0000613
4 abdominal pain 56 32 Occasional (29-5%) HP:0002027
5 menometrorrhagia 56 32 Frequent (79-30%) HP:0400008
6 nystagmus 56 32 Very frequent (99-80%) HP:0000639
7 cataract 56 32 Frequent (79-30%) HP:0000518
8 malabsorption 56 32 Occasional (29-5%) HP:0002024
9 visual impairment 56 32 Occasional (29-5%) HP:0000505
10 abnormality of visual evoked potentials 56 32 Frequent (79-30%) HP:0000649
11 renal insufficiency 56 32 Frequent (79-30%) HP:0000083
12 pulmonary fibrosis 56 32 Frequent (79-30%) HP:0002206
13 immunodeficiency 56 32 Very frequent (99-80%) HP:0002721
14 hyperkeratosis 56 32 Occasional (29-5%) HP:0000962
15 weight loss 56 32 Occasional (29-5%) HP:0001824
16 strabismus 56 32 Frequent (79-30%) HP:0000486
17 melanocytic nevus 56 32 Occasional (29-5%) HP:0000995
18 cardiomyopathy 56 32 Occasional (29-5%) HP:0001638
19 anorexia 56 32 Occasional (29-5%) HP:0002039
20 hypopigmentation of hair 56 32 Frequent (79-30%) HP:0005599
21 myopia 56 32 Frequent (79-30%) HP:0000545
22 abnormality of dental enamel 56 32 Occasional (29-5%) HP:0000682
23 abnormality of thrombocytes 56 32 Occasional (29-5%) HP:0001872
24 gastrointestinal hemorrhage 56 32 Occasional (29-5%) HP:0002239
25 epistaxis 56 32 Frequent (79-30%) HP:0000421
26 neutropenia 56 32 Very frequent (99-80%) HP:0001875
27 bruising susceptibility 56 32 Frequent (79-30%) HP:0000978
28 long eyelashes 56 32 Occasional (29-5%) HP:0000527
29 ocular albinism 56 32 Frequent (79-30%) HP:0001107
30 astigmatism 56 32 Frequent (79-30%) HP:0000483
31 partial albinism 56 32 Very frequent (99-80%) HP:0007443
32 squamous cell carcinoma of the skin 56 32 Occasional (29-5%) HP:0006739
33 abnormality of the optic nerve 56 32 Frequent (79-30%) HP:0000587
34 basal cell carcinoma 56 32 Occasional (29-5%) HP:0002671
35 crohn's disease 56 32 Occasional (29-5%) HP:0100280
36 abnormal bleeding 56 Very frequent (99-80%)
37 thickened skin 56 Occasional (29-5%)
38 iris hypopigmentation 56 Very frequent (99-80%)
39 hypopigmentation of the skin 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 AP3B1 AP3D1 BLOC1S6 CD63 DTNBP1 HPS1
3 hearing/vestibular/ear MP:0005377 10.16 AP3B1 AP3D1 BLOC1S3 BLOC1S6 HPS1 HPS4
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 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 HPS1
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 AP3B1 BLOC1S3 BLOC1S6 HPS1 HPS5 TYR
12 renal/urinary system MP:0005367 9.65 BLOC1S6 CD63 DTNBP1 HPS1 HPS4 HPS5
13 vision/eye MP:0005391 9.4 HPS5 HPS6 TYR TYRP1 AP3B1 AP3D1

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
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
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
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
5
Pirfenidone Investigational Phase 2 53179-13-8 40632
6 Analgesics Phase 2,Phase 1
7 Analgesics, Non-Narcotic Phase 2,Phase 1
8 Peripheral Nervous System Agents 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
Angiotensin II Phase 1, Phase 2 68521-88-0, 11128-99-7 65143 172198
13 N-monoacetylcystine Phase 1, Phase 2
14 Gastrointestinal Agents Phase 1, Phase 2
15 Hormone Antagonists Phase 1, Phase 2
16 Hormones Phase 1, Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
18 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
19 Angiotensin Receptor Antagonists Phase 1, Phase 2
20 Angiotensinogen Phase 1, Phase 2
21 Pharmaceutical Solutions Phase 1, Phase 2
22 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
23 Erythromycin Estolate Phase 1, Phase 2
24 Erythromycin Ethylsuccinate Phase 1, Phase 2
25 Anti-Arrhythmia Agents Phase 1, Phase 2
26 Erythromycin stearate Phase 1, Phase 2
27 Anti-Bacterial Agents Phase 1, Phase 2
28 Hypolipidemic Agents Phase 1, Phase 2
29 Expectorants Phase 1, Phase 2
30 Anti-Infective Agents Phase 1, Phase 2
31 Anticholesteremic Agents Phase 1, Phase 2
32 Protective Agents Phase 1, Phase 2
33 Antidotes Phase 1, Phase 2
34 Antihypertensive Agents Phase 1, Phase 2
35 Leukotriene Antagonists Phase 1, Phase 2
36 Lipid Regulating Agents Phase 1, Phase 2
37 Antimetabolites Phase 1, Phase 2
38 Lipoxygenase Inhibitors Phase 1, Phase 2
39 Respiratory System Agents Phase 1, Phase 2
40 Antiviral Agents Phase 1, Phase 2
41 Antioxidants Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Active, not recruiting NCT00001596 Phase 2
2 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2
3 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2
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 Basic 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 316)
id Title Authors Year
1
Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome. ( 27766632 )
2017
2
A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. ( 28289846 )
2017
3
Erratum: Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. ( 28035873 )
2017
4
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. ( 27917594 )
2016
5
The lived experience of having a rare medical disorder: Hermansky-Pudlak syndrome. ( 27358286 )
2016
6
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
7
Hermansky-Pudlak Syndrome. ( 27514596 )
2016
8
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula. ( 26785811 )
2016
9
Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs). ( 27345974 )
2016
10
Epithelial-macrophage interactions determine pulmonary fibrosis susceptibility in Hermansky-Pudlak syndrome. ( 27777976 )
2016
11
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
12
Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky-Pudlak syndrome. ( 26839694 )
2016
13
Hermansky-Pudlak syndrome in pregnancy: A case report. ( 27829879 )
2016
14
NGS-based 100-gene Panel of Hypopigmentation Identifies Mutations in Chinese Hermansky-Pudlak Syndrome Patients. ( 27593200 )
2016
15
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. ( 26744459 )
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
MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro. ( 26719147 )
2016
18
Management of Hermansky-Pudlak syndrome in pregnancy and review of literature. ( 27856532 )
2016
19
Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis. ( 27459687 )
2016
20
Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. ( 27529121 )
2016
21
Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs). ( 27345985 )
2016
22
Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. ( 27333462 )
2016
23
The ophthalmic presentation of Hermansky-Pudlak syndrome 6. ( 26823395 )
2016
24
In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer. ( 25468649 )
2015
25
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population. ( 26575419 )
2015
26
Circulating fibrocytes as a biomarker of prognosis in Hermansky-Pudlak syndrome. ( 26029843 )
2015
27
Unexpected intra-operative bleeding due to Hermansky-Pudlak Syndrome. ( 26195845 )
2015
28
Case of Hermansky-Pudlak syndrome 1 in a Japanese infant. ( 25988314 )
2015
29
Hermansky-Pudlak Syndrome: High-Resolution Computed Tomography Findings and Literature Review. ( 25728501 )
2015
30
Reply: circulating fibrocytes as a biomarker of prognosis in Hermansky-Pudlak syndrome. ( 26029844 )
2015
31
Defective release of I+ granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models. ( 25477496 )
2015
32
Management of tooth extraction in a patient with a rare bleeding disorder associated with Hermansky-Pudlak syndrome: a case report. ( 25579005 )
2015
33
Anesthetic management of a patient with Hermansky-Pudlak syndrome undergoing video-assisted bullectomy. ( 25547825 )
2015
34
Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome. ( 25593336 )
2015
35
Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease. ( 26121745 )
2015
36
Hermansky-Pudlak syndrome type 4 with a novel mutation. ( 24433314 )
2014
37
Hermansky-pudlak syndrome: a case report. ( 24707413 )
2014
38
The unique association of iris heterochromia with Hermansky Pudlak syndrome. ( 24698630 )
2014
39
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. ( 24698632 )
2014
40
Mucocutaneous granulomatous disease in a patient with hermansky-pudlak syndrome. ( 24989352 )
2014
41
Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia. ( 24583434 )
2014
42
A Turkish patient with Hermansky-Pudlak syndrome. ( 25632653 )
2014
43
An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment. ( 25447654 )
2014
44
Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3). ( 24766090 )
2014
45
Surgery for secondary pneumothorax caused by Hermansky-Pudlak syndrome. ( 25234801 )
2014
46
Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant. ( 25117010 )
2014
47
Circulating Fibrocytes as Biomarker of Prognosis in Hermansky-Pudlak Syndrome. ( 25347450 )
2014
48
A rare cause of thrombocyte dysfunction: Hermansky-Pudlak syndrome. ( 26078655 )
2014
49
Hermansky-pudlak syndrome complicated by pulmonary fibrosis: radiologic-pathologic correlation and review of pulmonary complications. ( 25379352 )
2014
50
An intractable case of hermansky-pudlak syndrome. ( 25400188 )
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 9.81 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 10.19 BLOC1S3 BLOC1S6 DTNBP1 HPS1 HPS3 HPS4

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

(show all 18)
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 lysosome organization GO:0007040 9.58 HPS1 HPS4
8 melanosome transport GO:0032402 9.57 BLOC1S3 BLOC1S6
9 protein localization to membrane GO:0072657 9.55 AP3D1 HPS6
10 organelle organization GO:0006996 9.55 DTNBP1 HPS3 HPS4 HPS5 HPS6
11 melanin biosynthetic process GO:0042438 9.54 TYR TYRP1
12 platelet dense granule organization GO:0060155 9.52 BLOC1S3 DTNBP1
13 antigen processing and presentation, exogenous lipid antigen via MHC class Ib GO:0048007 9.51 AP3B1 AP3D1
14 melanosome assembly GO:1903232 9.49 HPS1 HPS4
15 eye pigment biosynthetic process GO:0006726 9.48 AP3D1 TYR
16 positive regulation of NK T cell differentiation GO:0051138 9.46 AP3B1 AP3D1
17 melanosome organization GO:0032438 9.43 AP3B1 AP3D1 BLOC1S3 BLOC1S6 DTNBP1 TYRP1
18 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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