Hermansky-pudlak Syndrome malady

NIH Rare Diseases: Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized 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.There are eight 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 and 8.³⁰

MalaCards: Hermansky-pudlak Syndrome, also known as hermansky pudlak syndrome, is related to hermansky-pudlak syndrome 1 and hermansky-pudlak syndrome 3. An important gene associated with Hermansky-pudlak Syndrome is HPS6 (Hermansky-Pudlak syndrome 6), and among its related pathways are Lysosome and trans-Golgi Network Vesicle Budding. The compounds dhica and arbutin have been mentioned in the context of this disorder. Affiliated tissues include retina, kidney and lung, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Genetics Home Reference: Hermansky-Pudlak syndrome is 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. Long-term sun exposure greatly increases the risk of skin damage and skin cancers. Oculocutaneous albinism reduces pigmentation of the colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina). Oculocutaneous albinism also causes vision problems such as reduced sharpness, rapid and involuntary eye movements (nystagmus), and increased sensitivity to light (photophobia). In Hermansky-Pudlak syndrome, these vision problems usually remain stable after early childhood.¹⁷

GeneReviews summary for hps

Aliases & Descriptions:

hermansky-pudlak syndrome 6 7 15 30 17 8 32 hermansky pudlak syndrome 30 16 hps 30 17 albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 30

hps (hermansky pudlak syndrome) 6 delta storage pool disease 30 hermanski-pudlak syndrome 43 hantavirus infections 43

Disease types for hermansky-pudlak syndrome family:

hermansky pudlak syndrome 2	hermansky-pudlak syndrome 1
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

Diseases related to hermansky-pudlak syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 308)

id	Related Disease	Score	Top Affiliating Genes
1	hermansky-pudlak syndrome 1	35.4	HPS4, HPS1, LOC100500719, AP3B1
2	hermansky-pudlak syndrome 3	35.2	HPS6, HPS5, HPS3
3	oculocutaneous albinism	32.1	OCA2, TYRP1, TYR, AP3B1, RAB38
4	platelet storage pool deficiency	31.2	EPB42, EEF1E1, LYST, SNAPIN, RAB38, BLOC1S1
5	oculocutaneous albinism type 1	31.0	OCA2, TYR, HPS3, HPS1
6	nevus	31.0	PMEL, DCT, TYRP1, TYR, HPS1
7	albinism	30.8	BLOC1S3, LYST, PMEL, OCA2, GSR, AP3B1
8	pulmonary fibrosis	29.7	HPS4, HPS5, HPS6, DTNBP1, CSF3, HPS3
9	ocular albinism	29.7	OCA2, TYRP1, TYR, HPS4, HPS1
10	chediak-higashi syndrome	29.4	VPS33A, VPS39, RAB27A, LAMP1, LAMP2, AP3B1
11	hemophagocytic lymphohistiocytosis	28.8	LYST, CSF3, CCL2, AP3B1, LAMP1, RAB27A
12	schizophrenia	28.8	SNAPIN, DTNBP1, BLOC1S3, BLOC1S2, BLOC1S1
13	fibrosis	27.2	HPS3, HPS4, HPS5, HPS6, DTNBP1, TYR
14	hypothyroidism	27.0	DCT, VWF, GSR, TXNRD2, TYR, TYRP1
15	blindness	26.6	CSF3, TYR, AGFG1, CAT, CCL3, CCL2
16	glomerulonephritis	25.3	CTSL1, CAT, CCL3, CCL2, GSR, LAMP2
17	vascular disease	25.1	VWF, P2RY12, GSR, CCL2, CAT, CTSL1
18	eclampsia	24.6	CSF3, PRDX5, CAT, CCL3, CCL2, CD63
19	cholesterol	24.5	LYST, TYR, AGFG1, DTNBP1, TXNRD2, CAT
20	ischemic heart disease	24.4	CSF3, CAT, CCL2, GSR, VWF
21	tuberculosis	23.6	PYROXD2, AGFG1, TYR, TYRP1, PRDX5, OCA2
22	periodontitis	23.6	CTSL1, CAT, CCL3, CCL2, GSR, LAMP2
23	chagas disease	23.5	OCA2, CTSL1, CAT, CCL3, CCL2, GSR
24	immunodeficiency	23.4	CCL3, CAT, TXNRD2, AGFG1, PRDX5, CSF3
25	melanoma	23.3	CTSL1, AGFG1, TYR, TYRP1, DCT, PRDX5
26	alzheimer's disease	23.2	CSF3, PRDX5, TYRP1, TYR, RPN2, CTSL1
27	cystic fibrosis	23.2	CSF3, PRDX5, TYR, CAT, CCL3, CCL2
28	pulmonary hypertension	23.1	CAT, CCL3, CCL2, PAH, GCH1, VWF
29	coronary heart disease	22.8	PRDX5, CTSL1, CAT, CCL3, CCL2, GSR
30	vasculitis	22.7	LAMP2, CCL2, CCL3, CAT, CSF3, VWF
31	acute myocardial infarction	22.2	CSF3, CAT, CCL3, CCL2, GSR, CD63
32	hepatocellular carcinoma	22.0	CAT, TXNRD2, CTSL1, SNAPIN, RPN2, PRDX5
33	neuronitis	21.9	AGFG1, SNAPIN, CTSL1, DTNBP1, DTNB, TYR
34	myocardial infarction	21.9	CSF3, HPS1, CAT, CCL3, CCL2, AP3B1
35	carcinoma	19.2	TYRP1, TYR, RPN2, SNAPIN, CTSL1, TFF1
36	amelanotic melanoma	13.5	DCT, TYRP1, TYR
37	salla disease	13.5	LAMP2, LAMP1
38	griscelli syndrome type 2	13.4	AGFG1, RAB27A
39	choroideremia	13.4	RAB27A, RABGGTA, AGFG1
40	carney complex	13.4	PMEL, DCT, TYRP1, TYR, HPS1
41	oculocutaneous albinism type 2	13.2	OCA2, TYR
42	microphthalmia	12.9	PMEL, DCT, TYRP1, TYR, RAB27A
43	hyperphenylalaninemia	12.7	GCH1, PAH, CAT
44	phenylketonuria	12.7	TYR, CAT, PAH, GCH1
45	factor v leiden thrombophilia	12.6	AGFG1, HPS1, F2RL3, AP3B1, GSR, P2RY12
46	x-linked infantile nystagmus	12.6	TYR, TYRP1, OCA2
47	hemangioma	12.1	CCL2, LAMP2, LAMP1, SFTPB, VWF
48	vitiligo	11.7	PMEL, PRDX5, DCT, TYRP1, TYR, CAT
49	glycogen storage disease	11.7	CSF3, CAT, LAMP2, PAH, VWF
50	stomatitis	11.6	CSF3, OCA2, DCT, TYR, CAT

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to hermansky-pudlak syndrome:

²²

MGI Mouse Phenotypes related to hermansky-pudlak syndrome:

²⁵ (show all 12)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hearing/vestibular/ear phenotype	MP:0005377	8.5	HPS6, CTSL1, TYRP1, OCA2, LYST, HPS5
2	craniofacial phenotype	MP:0005382	8.2	HPS5, HPS6, CTSL1, TYRP1, OCA2, LYST
3	renal/urinary system phenotype	MP:0005367	7.1	HPS4, HPS5, DTNBP1, CTSL1, TYR, OCA2
4	nervous system phenotype	MP:0003631	7.0	TXNRD2, DTNB, CTSL1, TYR, TYRP1, DCT
5	hematopoietic system phenotype	MP:0005397	6.9	HPS4, HPS5, HPS6, CTSL1, OCA2, CSF3
6	pigmentation phenotype	MP:0001186	6.6	HPS1, HPS3, HPS4, HPS5, HPS6, DTNBP1
7	behavior/neurological phenotype	MP:0005386	6.3	CCL2, CCL3, DTNB, DTNBP1, CTSL1, TYR
8	vision/eye phenotype	MP:0005391	6.1	AP3B1, AP3D1, CCL2, HPS1, HPS3, HPS4
9	immune system phenotype	MP:0005387	5.9	HPS5, HPS6, DTNBP1, CTSL1, TYR, OCA2
10	integument phenotype	MP:0010771	5.7	TYRP1, DCT, OCA2, CSF3, PMEL, LYST
11	cellular phenotype	MP:0005384	5.6	CCL3, CAT, HPS1, HPS4, TXNRD2, CTSL1
12	homeostasis/metabolism phenotype	MP:0005376	3.9	PI4K2A, AP3D1, CCL2, CCL3, F2RL3, CAT

Articles related to hermansky-pudlak syndrome:

(show top 50)    (show all 92)

id	Title	Authors	Year	Affiliating Genes
1	Clinical, molecular, and cellular features of non-Pue rto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. (21833017)	Carmona-Rivera C.... Gahl W.A.	2011	HPS1, HPS4, HPS5
2	Novel mutation causing Hermansky-Pudlak Syndrome Type 2. (20981699)	Chiang P.W.... Frei-Jones M.	2010	TFF1
3	Two patients with Hermansky Pudlak syndrome type 2 an d novel mutations in AP3B1. (19679886)	Wenham M.... Mumford A.D.	2010	AP3B1
4	Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. (20562649)	Torres-Serrant M.... Santiago-Borrero P.J.	2010	HPS3
5	Hermansky-Pudlak syndrome type 1 in patients of India n descent. (19398212)	Vincent L.M.... Gahl W.A.	2009	HPS1
6	Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1. (19729668)	Rouhani F.N.... Gochuico B.R.	2009	CCL2, CCL3, HPS1
7	Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database. (16550546)	Li W.... Liang P.	2006	AP3B1
8	Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome. (16733390)	de Leusse A.... Marteau P.	2006	AP3B1, HPS3, HPS1
9	Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. (16537806)	Jung J.... Klein C.	2006	AP3B1
10	Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype. (16431308)	Hussain N.... Mannon P.	2006	HPS1, HPS4
11	A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). (16385460)	Morgan N.V.... Maher E.R.	2006	BLOC1S3
12	Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. (15632015)	Boissy R.E.... Gahl W.A.	2005	TYR, RAB27A, LAMP1
13	High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. (16185271)	Ito S.... Tomita Y.	2005	HPS1
14	Hermansky-Pudlak syndrome with a novel mutation. (16093596)	Iwakawa J.... Arimura K.	2005	HPS1
15	Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome): severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation. (15743322)	Tang X.... Nakatani Y.	2005	HPS1
16	Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome. (15519141)	Suzuki T.... Hashimoto T.	2004	HPS1
17	Inflammatory response and cathepsins in silica-exposed Hermansky-Pudlak syndrome model pale ear mice. (15086836)	Yoshioka Y.... Fukuchi Y.	2004	HPS1
18	Novel aberrations of HPS1 mRNA detected in a case of Hermansky-Pudlak syndrome with pulmonary fibrosis. (15127980)	Ikegami Y.... Kohno N.	2004	HPS1
19	Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. (15296495)	Huizing M.... Gahl W.A.	2004	HPS5
20	Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). (12576321)	Ciciotte S.L.... Peters L.L.	2003	DTNBP1, EPB42, BLOC1S2
21	Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics. (12664304)	Anderson P.D.... Gahl W.A.	2003	AP3B1, HPS3, HPS1
22	Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. (12548288)	Zhang Q.... Swank R.T.	2003	HPS5, HPS6
23	Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. (12442288)	Hermos C.R.... Gahl W.A.	2002	AP3B1, HPS3, HPS1
24	Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. (12125811)	Huizing M.... Gahl W.A.	2002	AP3B1, HPS3, HPS1
25	Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. (12239031)	Avila N.A.... Gahl W.A.	2002	HPS1
26	Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. (11836498)	Suzuki T.... Spritz R.A.	2002	HPS1, HPS4
27	Role of the PAR4 thrombin receptor in stabilizing platelet-platelet aggregates as revealed by a patient with Hermansky-Pudlak syndrome. (12008957)	Covic L.... Kuliopulos A.	2002	F2RL3, P2RY12
28	Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus. (11592818)	Huizing M.... Gahl W.A.	2001	AP3B1, HPS3, HPS1
29	Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. (11455388)	Anikster Y.... Toro J.R.	2001	AP3B1, HPS3, HPS1
30	The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. (11707070)	Suzuki T.... Spritz R.A.	2001	HPS3
31	Hermansky-Pudlak syndrome. (11399548)	Krisp A.... Freyschmidt-Paul P.	2001	HPS1
32	Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak Syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA. (11564171)	Sarangarajan R.... Boissy R.E.	2001	TYR, TYRP1, HPS1
33	Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene. (10625677)	Dell'Angelica E.C.... Bonifacino J.S.	2000	LAMP1, HPS1
34	Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. (10971344)	Horikawa T.... Ichihashi M.	2000	HPS1
35	Defects in the cappuccino (cno) gene on mouse chromos ome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mecha nism. (11110696)	Gwynn B.... Peters L.L.	2000	HPS1, BLOC1S4
36	Hermansky-Pudlak syndrome and related disorders of organelle formation. (11208073)	Huizing M.... Gahl W.A.	2000	AP3B1, HPS1
37	Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. (10768343)	Iwata F.... Kaiser-Kupfer M.I.	2000	HPS1
38	Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. (10631210)	Brantly M.... Gahl W.A.	2000	HPS1
39	Characterization of a partial pseudogene homologous to the Hermansky- Pudlak syndrome gene HPS-1; relevance for mutation detection. (10798370)	Huizing M.... Gahl W.A.	2000	HPS1, LOC100500719
40	The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness. (9931340)	Feng L.... Swank R.T.	1999	AP3B1
41	HPS gene mutations in Hermansky-Pudlak syndrome. (9973306)	Spritz R.A.... Oh J.	1999	HPS1
42	Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. (10024875)	Dell'Angelica E.C.... Bonifacino J.S.	1999	AP3B1, AP3M1
43	Platelet von Willebrand factor in Hermansky-Pudlak syndrome. (9766795)	McKeown L.P.... Rick M.E.	1998	VWF
44	The gene for lysosomal protein CD63 is normal in patients with Hermansky-Pudlak syndrome. (9617741)	Armstrong L.W.... Martiniuk F.T.	1998	CD63
45	Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). (9562579)	Gahl W.A.... Bernardini I.	1998	AP3B1
46	Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico. (9579545)	Wildenberg S.C.... King R.A.	1998	AP3B1, HPS1
47	Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. (9158155)	Feng G.H.... Spritz R.A.	1997	AP3B1
48	Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. (9182823)	Bailin T.... Spritz R.A.	1997	HPS1
49	Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. (8896559)	Oh J.... Spritz R.A.	1996	HPS1
50	Hermansky-Pudlak syndrome in a Swiss population. (8274781)	Schallreuter K.U.... Wood J.M.	1993	GSR, CAT, TXNRD2

Genes related to hermansky-pudlak syndrome according to GeneCards:

(show top 50)    (show all 60)

id	Symbol	Description	Score	GeneCards Section Context
1	HPS6	Hermansky-Pudlak syndrome 6	11.2	Transcripts, Summaries, Orthologs, Aliases & Descriptions (show all 5 sections) Publications
2	HPS5	Hermansky-Pudlak syndrome 5	11.2	Publications, Transcripts, Aliases & Descriptions, Orthologs (show all 6 sections) Proteins, Summaries
3	HPS1	Hermansky-Pudlak syndrome 1	11.1	Summaries, Publications, Orthologs, Proteins (show all 6 sections) Aliases & Descriptions, Transcripts
4	HPS4	Hermansky-Pudlak syndrome 4	11.1	Publications, Aliases & Descriptions, Proteins, Orthologs (show all 6 sections) Summaries, Transcripts
5	HPS3	Hermansky-Pudlak syndrome 3	11.1	Transcripts, Publications, Proteins, Orthologs (show all 6 sections) Summaries, Aliases & Descriptions
6	DTNBP1	dystrobrevin binding protein 1	11.1	Summaries, Publications, Aliases & Descriptions
7	AP3B1	adaptor-related protein complex 3, beta 1 subunit	11.1	Publications, Summaries
8	BLOC1S3	biogenesis of lysosomal organelles complex-1, subunit 3	11.1	Summaries, Publications
9	CD63	CD63 molecule	11.1	Summaries, Publications, UniProt Related
10	LOC100500719	Hermansky-Pudlak syndrome 1 pseudogene	11.1	Aliases & Descriptions, Publications
11	AP3M1	adaptor-related protein complex 3, mu 1 subunit	11.1	Summaries, Orthologs, Publications
12	SNAPIN	SNAP-associated protein	11.1	Summaries
13	BLOC1S5	biogenesis of lysosomal organelles complex-1, subunit 5, muted	11.0	Summaries, Publications
14	BLOC1S4	biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino	11.0	Publications, Summaries
15	TYRP1	tyrosinase-related protein 1	11.0	Publications
16	LAMP2	lysosomal-associated membrane protein 2	11.0
17	TYR	tyrosinase (oculocutaneous albinism IA)	11.0	Publications
18	AGFG1	ArfGAP with FG repeats 1	11.0
19	RAB4B	RAB4B, member RAS oncogene family	11.0
20	BLOC1S2	biogenesis of lysosomal organelles complex-1, subunit 2	11.0	Publications
21	AP3M2	adaptor-related protein complex 3, mu 2 subunit	11.0	Orthologs
22	SLC35D3	solute carrier family 35, member D3	11.0	Disorders
23	EPB42	erythrocyte membrane protein band 4.2	11.0	Publications
24	LAMP1	lysosomal-associated membrane protein 1	11.0	Publications
25	PI4K2A	phosphatidylinositol 4-kinase type 2 alpha	11.0	Publications
26	RAB32	RAB32, member RAS oncogene family	11.0
27	RABGGTA	Rab geranylgeranyltransferase, alpha subunit	11.0
28	SEC22C	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	11.0	Publications
29	BLOC1S1	biogenesis of lysosomal organelles complex-1, subunit 1	11.0
30	EEF1E1	eukaryotic translation elongation factor 1 epsilon 1	11.0
31	F2RL3	coagulation factor II (thrombin) receptor-like 3	11.0	Publications
32	PMEL	premelanosome protein	11.0	Publications
33	VPS16	vacuolar protein sorting 16 homolog (S. cerevisiae)	11.0
34	CCZ1	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	11.0
35	P2RY12	purinergic receptor P2Y, G-protein coupled, 12	11.0	Publications
36	RPN2	ribophorin II	11.0	Publications
37	PYROXD2	pyridine nucleotide-disulphide oxidoreductase domain 2	11.0
38	VPS39	vacuolar protein sorting 39 homolog (S. cerevisiae)	11.0	Disorders
39	RAB27A	RAB27A, member RAS oncogene family	11.0	Publications
40	DCT	dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2)	11.0	Publications
41	AP3D1	adaptor-related protein complex 3, delta 1 subunit	11.0
42	TXNRD2	thioredoxin reductase 2	11.0	Publications
43	RAB38	RAB38, member RAS oncogene family	11.0
44	TFF1	trefoil factor 1	11.0	Publications
45	SFTPB	surfactant protein B	11.0	Publications
46	CTSL1	cathepsin L1	11.0	Publications
47	PRDX5	peroxiredoxin 5	11.0
48	GCH1	GTP cyclohydrolase 1	11.0	Publications
49	VPS33A	vacuolar protein sorting 33 homolog A (S. cerevisiae)	11.0	Disorders
50	LYST	lysosomal trafficking regulator	11.0

Pathways related to hermansky-pudlak syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Lysosome20	9.6	AP3M2, AP3M1, AP3D1, AP3B1, CD63, LAMP2
2	trans-Golgi Network Vesicle Budding38	9.3	BLOC1S1, BLOC1S3, BLOC1S4, BLOC1S6, DTNBP1

Compounds related to hermansky-pudlak syndrome according to GeneDecks:

(show all 46)

id	Compound	Score	Top Affiliating Genes
1	dhica32	10.6	DCT, TYRP1, TYR
2	arbutin32	10.6	DCT, TYRP1, TYR
3	eumelanin32	10.5	TYR, TYRP1, DCT
4	dopachrome32	10.3	LAMP1, TYR, TYRP1, DCT, PMEL
5	kojic acid32	10.3	TYRP1, TYR
6	l-dopachrome32 18	11.3	DCT, TYR
7	dopaquinone32 18	11.2	DCT, TYRP1, TYR, PAH
8	6-biopterin32	10.2	PRDX5, TYR, PAH
9	mannose 6-phosphate32 18	11.2	TYRP1, AGFG1, CTSL1, CD63, LAMP2, LAMP1
10	dihydrobiopterin32 18	11.2	GCH1, PAH, TYR
11	sucrose32 9 18 9	13.1	DCT, TYRP1, CD63, LAMP2, LAMP1, SFTPB
12	ascorbic acid32 18	11.0	PRDX5, TYR, GCH1, SFTPB
13	ibmx32	10.0	DCT, TFF1, TYRP1, TYR, SFTPB
14	trypanothione32 9 9	12.0	PRDX5, TXNRD2, GSR
15	dtnb32	9.9	PRDX5, TXNRD2, GSR
16	selenocystine32	9.9	PRDX5, GSR
17	nitrosourea32	9.9	PRDX5, GSR
18	4-s-cysteaminylphenol32	9.7	TYR, CAT
19	ppack32	9.7	CCL2, P2RY12, VWF
20	bcnu32	9.5	CSF3, PRDX5, TYR, GSR
21	tetrahydrobiopterin32 9 18 9	12.4	TYR, CAT, PAH, GCH1
22	ebselen32	9.2	GSR, CAT, PRDX5
23	dehydroascorbic acid32	9.2	PRDX5, CAT, GSR
24	gssg32	9.2	GSR, CAT, TXNRD2, PRDX5
25	copper32 18	10.2	DCT, TYRP1, TYR, CAT, PAH, SFTPB
26	levodopa32 9 9	11.1	DCT, TYRP1, TYR, HPS1, CAT, PAH
27	selenite32	9.1	PRDX5, TYR, TXNRD2, CAT, GSR
28	selenium32 18	10.0	PRDX5, TXNRD2, CAT, GSR
29	n-ethylmaleimide32 9 9	10.8	PRDX5, AGFG1, CAT, GSR, VWF
30	alpha lipoic acid32	8.8	PRDX5, CAT, CCL2, GSR
31	peroxynitrite32	8.8	SFTPB, GSR, CCL3, CAT, PRDX5
32	manganese superoxide32	8.6	PRDX5, CAT, GSR, SFTPB
33	cholesterol32 9 18 9	11.5	LYST, AGFG1, TXNRD2, CCL3, CCL2, CD63
34	indomethacin32 9 9	10.4	P2RY12, GSR, CCL3, CAT, TYR, TFF1
35	cyclophosphamide32 34 9 9	11.2	CSF3, PRDX5, CCL3, CCL2, GSR, VWF
36	formaldehyde32 18	9.2	TYR, CAT, CCL2, LAMP1, VWF
37	epinephrine32 9 18 9	11.0	GSR, CCL3, F2RL3, CSF3, CD63, P2RY12
38	aspartate32	8.0	PRDX5, TYR, CTSL1, TXNRD2, CCL3, CCL2
39	calcium32 9 18 9	10.9	PRDX5, TFF1, TYRP1, AGFG1, CTSL1, TXNRD2
40	arginine32	7.8	LYST, TFF1, TYR, TXNRD2, CCL2, GSR
41	tyrosine32	7.6	CTSL1, AGFG1, TYR, TYRP1, DCT, CSF3
42	superoxide32 18	8.5	CSF3, PRDX5, CTSL1, TXNRD2, CAT, CCL2
43	h2o232	7.4	PRDX5, TFF1, TYRP1, TYR, TXNRD2, CAT
44	nitric oxide32 9 18 9	10.3	CCL3, CAT, TXNRD2, PRDX5, CCL2, CD63
45	oxygen32 18	8.1	PRDX5, DCT, TYRP1, TYR, TXNRD2, CAT
46	cysteine32	7.0	AGFG1, TYR, TYRP1, TFF1, DCT, PRDX5

Cellular components related to hermansky-pudlak syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	HOPS complex	GO:030897	9.9	VPS16, VPS33A, VPS39
2	melanosome membrane	GO:033162	9.9	OCA2, DCT, TYRP1, TYR, DTNBP1
3	late endosome	GO:005770	9.7	LAMP2, LAMP1, RAB27A, VPS33A, VPS16
4	late endosome membrane	GO:031902	9.7	CD63, LAMP2, VPS39, VPS33A, VPS16
5	melanosome	GO:042470	9.5	PMEL, DCT, TYRP1, TYR, HPS4, LAMP1
6	BLOC-1 complex	GO:031083	9.5	PI4K2A, SNAPIN, DTNBP1, BLOC1S6, BLOC1S5, BLOC1S4
7	endosome membrane	GO:010008	9.3	OCA2, TYRP1, DTNBP1, AP3D1, CD63, LAMP1
8	lysosomal membrane	GO:005765	9.1	OCA2, CCZ1, CD63, LAMP2, LAMP1, BLOC1S1
9	lysosome	GO:005764	8.8	TYR, CTSL1, HPS4, HPS1, CAT, AP3M1

Biological processes related to hermansky-pudlak syndrome according to GeneDecks:

(show all 25)

id	Name	GO ID	Score	Top Affiliating Genes
1	organelle organization	GO:006996	10.6	HPS6, HPS5, HPS3
2	antigen processing and presentation, exogenous lipid antigen via MHC class Ib	GO:048007	10.4	AP3D1, AP3B1
3	platelet dense granule organization	GO:060155	10.3	DTNBP1, F2RL3, BLOC1S3, BLOC1S2, BLOC1S1
4	pigmentation	GO:043473	10.3	LYST, HPS5, HPS3, BLOC1S3
5	melanin biosynthetic process from tyrosine	GO:006583	10.3	DCT, TYR
6	positive regulation of NK T cell differentiation	GO:051138	10.2	AP3D1, AP3B1
7	melanin biosynthetic process	GO:042438	10.2	PMEL, OCA2, TYRP1
8	eye pigment biosynthetic process	GO:006726	10.2	OCA2, TYR, AP3D1
9	endosome to melanosome transport	GO:035646	10.1	BLOC1S6, BLOC1S5, BLOC1S3
10	hemostasis	GO:007599	10.1	HPS4, P2RY12, VWF
11	positive regulation of pigment cell differentiation	GO:050942	10.1	BLOC1S6, BLOC1S5
12	secretion of lysosomal enzymes	GO:033299	10.0	BLOC1S6, BLOC1S3
13	melanosome transport	GO:032402	10.0	BLOC1S6, BLOC1S5, BLOC1S3, RAB27A
14	post-Golgi vesicle-mediated transport	GO:006892	9.9	DTNBP1, BLOC1S6, BLOC1S4, BLOC1S3, BLOC1S1
15	cellular membrane organization	GO:016044	9.9	BLOC1S1, BLOC1S3, BLOC1S4, BLOC1S6, DTNBP1
16	platelet activation	GO:030168	9.8	F2RL3, CD63, P2RY12, LAMP2, BLOC1S3, VWF
17	neuron projection development	GO:031175	9.7	SNAPIN, DTNBP1, BLOC1S6, BLOC1S5, BLOC1S4, BLOC1S3
18	melanocyte differentiation	GO:030318	9.6	OCA2, TYRP1, HPS6, HPS4, BLOC1S6, RAB27A
19	astrocyte cell migration	GO:043615	9.5	CCL3, CCL2
20	protein kinase B signaling cascade	GO:043491	9.4	P2RY12, CCL2, CCL3
21	anterograde synaptic vesicle transport	GO:048490	9.3	SNAPIN, BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5
22	anterograde axon cargo transport	GO:008089	9.3	BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6
23	melanosome organization	GO:032438	9.2	DTNBP1, SNAPIN, TYRP1, PMEL, LYST, AP3B1
24	blood coagulation	GO:007596	9.0	DTNBP1, HPS6, HPS5, HPS4, F2RL3, AP3B1
25	protein transport	GO:015031	8.9	LYST, RAB38, RAB32, RAB4B, SEC22C, VPS39

Molecular functions related to hermansky-pudlak syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein homodimerization activity	GO:042803	7.0	VWF, TYRP1, TYR, TXNRD2, HPS4, CAT
2	protein binding	GO:005515	5.7	AGFG1, SNAPIN, CTSL1, DTNBP1, TXNRD2, TYR