HPS1
MCID: HRM005
MIFTS: 53

Hermansky-Pudlak Syndrome 1 (HPS1)

Categories: Blood diseases, Cancer diseases, Eye diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hermansky-Pudlak Syndrome 1

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 1:

Name: Hermansky-Pudlak Syndrome 1 57 12 75 29 13 6 15
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 57 73
Delta Storage Pool Disease 57 75
Hps1 57 75
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 75
Platelet Storage Pool Deficiency 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity
gene frequency in northwest puerto rico 1 in 18


HPO:

32
hermansky-pudlak syndrome 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Hermansky-Pudlak Syndrome 1

UniProtKB/Swiss-Prot : 75 Hermansky-Pudlak syndrome 1: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.

MalaCards based summary : Hermansky-Pudlak Syndrome 1, also known as albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells, is related to hermansky-pudlak syndrome with pulmonary fibrosis and albinism, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 1 is HPS1 (HPS1, Biogenesis Of Lysosomal Organelles Complex 3 Subunit 1), and among its related pathways/superpathways are Melanocyte Development and Pigmentation and Melanin biosynthesis. Affiliated tissues include lung, skin and eye, and related phenotypes are nystagmus and blindness

Disease Ontology : 12 A Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24.

OMIM : 57 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). (203300)

Related Diseases for Hermansky-Pudlak Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome with pulmonary fibrosis 32.7 HPS1 HPS4
2 albinism 31.9 HPS1 HPS4 OCA2 SLC24A5 SLC45A2 TYR
3 oculocutaneous albinism 31.1 AP3B1 HPS1 HPS4 OCA2 SLC24A5 SLC45A2
4 hermansky-pudlak syndrome 30.7 AP3B1 DTNBP1 HPS1 HPS4 TYR
5 chediak-higashi syndrome 30.4 HPS1 LYST TYR
6 isolated delta-storage pool disease 12.5
7 hermansky-pudlak syndrome 2 11.7
8 hermansky-pudlak syndrome 3 11.7
9 hermansky-pudlak syndrome 6 11.7
10 hermansky-pudlak syndrome 7 11.7
11 hermansky-pudlak syndrome 8 11.7
12 hermansky-pudlak syndrome 9 11.7
13 pulmonary fibrosis 11.6
14 nonspecific interstitial pneumonia 11.2
15 hermansky-pudlak syndrome 4 11.1
16 hermansky-pudlak syndrome 5 11.1
17 hermansky-pudlak syndrome 10 11.1
18 storage pool platelet disease 10.2 AP3B1 HPS4
19 melanoma 10.0
20 albinism, ocular, with late-onset sensorineural deafness 10.0 SOX10 TYR
21 congenital nystagmus 10.0 OCA2 TYR
22 malignant spindle cell melanoma 10.0 SOX10 TYR
23 breast angiosarcoma 10.0 SOX10 TYR
24 acute contagious conjunctivitis 10.0 OCA2 TYR
25 albinism, oculocutaneous, type iii 9.9 OCA2 SLC45A2 TYR
26 ocular albinism 9.9 OCA2 SLC45A2 TYR
27 waardenburg syndrome, type 2a 9.9 SOX10 TYR
28 pathologic nystagmus 9.9 OCA2 SLC45A2 TYR
29 waardenburg syndrome, type 3 9.8 PAX3 SOX10
30 waardenburg syndrome, type 4b 9.8 PAX3 SOX10
31 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.8 PAX3 SOX10
32 piebald trait 9.8 LYST PAX3 TYR
33 albinism, oculocutaneous, type ib 9.8 OCA2 SLC24A5 SLC45A2 TYR
34 albinism, oculocutaneous, type v 9.8 OCA2 SLC24A5 SLC45A2 TYR
35 albinism, oculocutaneous, type vii 9.8 OCA2 SLC24A5 SLC45A2 TYR
36 albinism, oculocutaneous, type ia 9.8 OCA2 SLC24A5 SLC45A2 TYR
37 albinism, oculocutaneous, type ii 9.8 OCA2 SLC24A5 SLC45A2 TYR
38 diaphragm disease 9.8 PAX3 SFTPB
39 tietz albinism-deafness syndrome 9.7 PAX3 SOX10 TYR
40 waardenburg syndrome, type 1 9.7 PAX3 SOX10 TYR
41 waardenburg's syndrome 9.7 PAX3 SOX10 TYR
42 albinism, oculocutaneous, type iv 9.7 AP3B1 OCA2 SLC24A5 SLC45A2 TYR
43 cellular schwannoma 9.6 PAX3 SOX10
44 dyschromatosis symmetrica hereditaria 9.4 LYST OCA2 PAX3 SOX10 TYR

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 1:



Diseases related to Hermansky-Pudlak Syndrome 1

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
ocular albinism
lifelong reduced visual acuity, legal blindness to low vision
iris transillumination (variable)
macular translucency (variable)
more
Cardiovascular Heart:
cardiomyopathy

Head And Neck Mouth:
gingival bleeding

Skin Nails Hair Skin:
albinism
freckles in sun-exposed areas
pigmented nevi
creamy white skin
tanning possible

Respiratory Lung:
restrictive lung disease
interstitial pulmonary fibrosis

Laboratory Abnormalities:
hair bulb tyrosinase present

Abdomen Gastrointestinal:
abdominal pain
bloody diarrhea
granulomatous colitis
inflammatory bowel disease

Head And Neck Nose:
epistaxis

Hematology:
prolonged bleeding time
easy bruisability
bleeding diathesis
absent dense bodies in platelets
normal platelet counts
more
Genitourinary Kidneys:
renal failure

Skin Nails Hair Hair:
hair color white to brown


Clinical features from OMIM:

203300

Human phenotypes related to Hermansky-Pudlak Syndrome 1:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 blindness 32 HP:0000618
3 renal insufficiency 32 HP:0000083
4 pulmonary fibrosis 32 HP:0002206
5 abdominal pain 32 HP:0002027
6 melanocytic nevus 32 HP:0000995
7 cardiomyopathy 32 HP:0001638
8 epistaxis 32 HP:0000421
9 bruising susceptibility 32 HP:0000978
10 gingival bleeding 32 HP:0000225
11 hematochezia 32 HP:0002573
12 prolonged bleeding time 32 HP:0003010
13 abnormality of the hair 32 HP:0001595
14 ocular albinism 32 HP:0001107
15 freckling 32 HP:0001480
16 restrictive ventilatory defect 32 HP:0002091
17 albinism 32 HP:0001022
18 colitis 32 HP:0002583
19 freckles in sun-exposed areas 32 HP:0007603
20 severe vision loss 32 HP:0001141

UMLS symptoms related to Hermansky-Pudlak Syndrome 1:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 1:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 AP3B1 DTNBP1 LYST OCA2 PAX3 SFTPB
2 homeostasis/metabolism MP:0005376 10.21 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
3 growth/size/body region MP:0005378 10.18 AP3B1 HPS1 HPS4 LYST OCA2 PAX3
4 integument MP:0010771 10.14 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
5 hearing/vestibular/ear MP:0005377 10.11 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
6 craniofacial MP:0005382 10.1 AP3B1 HPS1 HPS4 LYST OCA2 PAX3
7 pigmentation MP:0001186 10 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
8 limbs/digits/tail MP:0005371 9.91 AP3B1 HPS1 LYST OCA2 PAX3 SOX10
9 no phenotypic analysis MP:0003012 9.87 AP3B1 HPS1 LYST OCA2 PAX3 SOX10
10 renal/urinary system MP:0005367 9.76 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
11 respiratory system MP:0005388 9.43 AP3B1 HPS1 LYST PAX3 SFTPB SOX10
12 vision/eye MP:0005391 9.32 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 1

Genetic Tests for Hermansky-Pudlak Syndrome 1

Genetic tests related to Hermansky-Pudlak Syndrome 1:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 1 29 HPS1

Anatomical Context for Hermansky-Pudlak Syndrome 1

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 1:

41
Lung, Skin, Eye

Publications for Hermansky-Pudlak Syndrome 1

Articles related to Hermansky-Pudlak Syndrome 1:

# Title Authors Year
1
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family. ( 27942505 )
2016
2
Case of Hermansky-Pudlak syndrome 1 in a Japanese infant. ( 25988314 )
2015
3
Case of Hermansky-Pudlak syndrome 1 patient with milder symptoms in Japanese. ( 24479888 )
2014
4
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 )
2005
5
The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. ( 12663659 )
2003
6
The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. ( 11861280 )
2002

Variations for Hermansky-Pudlak Syndrome 1

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 1:

6 (show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPS1 NM_000195.4(HPS1): c.1472_1487dup16 (p.His497Glnfs) duplication Pathogenic rs281865163 GRCh37 Chromosome 10, 100183555: 100183570
2 HPS1 NM_000195.4(HPS1): c.1472_1487dup16 (p.His497Glnfs) duplication Pathogenic rs281865163 GRCh38 Chromosome 10, 98423798: 98423813
3 HPS1 NM_000195.4(HPS1): c.972dupC (p.Met325Hisfs) duplication Pathogenic rs281865083 GRCh38 Chromosome 10, 98427230: 98427230
4 HPS1 NM_000195.4(HPS1): c.972dupC (p.Met325Hisfs) duplication Pathogenic rs281865083 GRCh37 Chromosome 10, 100186987: 100186987
5 HPS1 NM_000195.4(HPS1): c.1996G> T (p.Glu666Ter) single nucleotide variant Pathogenic rs121908385 GRCh37 Chromosome 10, 100177428: 100177428
6 HPS1 NM_000195.4(HPS1): c.1996G> T (p.Glu666Ter) single nucleotide variant Pathogenic rs121908385 GRCh38 Chromosome 10, 98417671: 98417671
7 HPS1 NM_000195.4(HPS1): c.972delC (p.Met325Trpfs) deletion Pathogenic rs281865082 GRCh38 Chromosome 10, 98427230: 98427230
8 HPS1 NM_000195.4(HPS1): c.972delC (p.Met325Trpfs) deletion Pathogenic rs281865082 GRCh37 Chromosome 10, 100186987: 100186987
9 HPS1 NM_000195.4(HPS1): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs121908386 GRCh37 Chromosome 10, 100195030: 100195030
10 HPS1 NM_000195.4(HPS1): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs121908386 GRCh38 Chromosome 10, 98435273: 98435273
11 HPS1 NM_000195.4(HPS1): c.962dupG (p.Thr322Hisfs) duplication Pathogenic rs606231156 GRCh38 Chromosome 10, 98427240: 98427240
12 HPS1 NM_000195.4(HPS1): c.962dupG (p.Thr322Hisfs) duplication Pathogenic rs606231156 GRCh37 Chromosome 10, 100186997: 100186997
13 HPS1 NM_000195.4(HPS1): c.398+5G> A single nucleotide variant Pathogenic rs281865077 GRCh37 Chromosome 10, 100195024: 100195024
14 HPS1 NM_000195.4(HPS1): c.398+5G> A single nucleotide variant Pathogenic rs281865077 GRCh38 Chromosome 10, 98435267: 98435267
15 HPS1 NM_000195.4(HPS1): c.1323dupA (p.Gln442Thrfs) duplication Pathogenic rs281865085 GRCh37 Chromosome 10, 100185310: 100185310
16 HPS1 NM_000195.4(HPS1): c.1323dupA (p.Gln442Thrfs) duplication Pathogenic rs281865085 GRCh38 Chromosome 10, 98425553: 98425553
17 HPS1 NM_000195.4(HPS1): c.1189delC (p.Gln397Serfs) deletion Likely pathogenic rs281865084 GRCh37 Chromosome 10, 100185444: 100185444
18 HPS1 NM_000195.4(HPS1): c.1189delC (p.Gln397Serfs) deletion Likely pathogenic rs281865084 GRCh38 Chromosome 10, 98425687: 98425687
19 HPS1 NM_000195.4(HPS1): c.1375delA (p.Ser459Valfs) deletion Pathogenic rs281865086 GRCh37 Chromosome 10, 100184092: 100184092
20 HPS1 NM_000195.4(HPS1): c.1375delA (p.Ser459Valfs) deletion Pathogenic rs281865086 GRCh38 Chromosome 10, 98424335: 98424335
21 HPS1 NM_000195.4(HPS1): c.1472C> G (p.Pro491Arg) single nucleotide variant Benign/Likely benign rs2296434 GRCh37 Chromosome 10, 100183570: 100183570
22 HPS1 NM_000195.4(HPS1): c.1472C> G (p.Pro491Arg) single nucleotide variant Benign/Likely benign rs2296434 GRCh38 Chromosome 10, 98423813: 98423813
23 HPS1 NM_000195.4(HPS1): c.166_168delATC (p.Ile56del) deletion Pathogenic rs281865073 GRCh37 Chromosome 10, 100195479: 100195481
24 HPS1 NM_000195.4(HPS1): c.166_168delATC (p.Ile56del) deletion Pathogenic rs281865073 GRCh38 Chromosome 10, 98435722: 98435724
25 HPS1 NM_000195.4(HPS1): c.1691delA (p.Lys564Argfs) deletion Pathogenic rs281865087 GRCh37 Chromosome 10, 100182178: 100182178
26 HPS1 NM_000195.4(HPS1): c.1691delA (p.Lys564Argfs) deletion Pathogenic rs281865087 GRCh38 Chromosome 10, 98422421: 98422421
27 HPS1 NM_000195.4(HPS1): c.1744-2A> C single nucleotide variant Pathogenic rs281865088 GRCh37 Chromosome 10, 100179917: 100179917
28 HPS1 NM_000195.4(HPS1): c.1744-2A> C single nucleotide variant Pathogenic rs281865088 GRCh38 Chromosome 10, 98420160: 98420160
29 HPS1 NM_000195.4(HPS1): c.1749G> A (p.Trp583Ter) single nucleotide variant Pathogenic rs281865089 GRCh37 Chromosome 10, 100179910: 100179910
30 HPS1 NM_000195.4(HPS1): c.1749G> A (p.Trp583Ter) single nucleotide variant Pathogenic rs281865089 GRCh38 Chromosome 10, 98420153: 98420153
31 HPS1 NM_000195.4(HPS1): c.1808A> G (p.Gln603Arg) single nucleotide variant Benign/Likely benign rs2296436 GRCh37 Chromosome 10, 100179851: 100179851
32 HPS1 NM_000195.4(HPS1): c.1808A> G (p.Gln603Arg) single nucleotide variant Benign/Likely benign rs2296436 GRCh38 Chromosome 10, 98420094: 98420094
33 HPS1 NM_000195.4(HPS1): c.1888G> A (p.Val630Ile) single nucleotide variant Benign rs139061260 GRCh37 Chromosome 10, 100177984: 100177984
34 HPS1 NM_000195.4(HPS1): c.1888G> A (p.Val630Ile) single nucleotide variant Benign rs139061260 GRCh38 Chromosome 10, 98418227: 98418227
35 HPS1 NM_000195.4(HPS1): c.2003T> C (p.Leu668Pro) single nucleotide variant Pathogenic rs281865090 GRCh37 Chromosome 10, 100177421: 100177421
36 HPS1 NM_000195.4(HPS1): c.2003T> C (p.Leu668Pro) single nucleotide variant Pathogenic rs281865090 GRCh38 Chromosome 10, 98417664: 98417664
37 HPS1 NM_000195.4(HPS1): c.288delT (p.Asp97Thrfs) deletion Pathogenic rs281865074 GRCh37 Chromosome 10, 100195139: 100195139
38 HPS1 NM_000195.4(HPS1): c.288delT (p.Asp97Thrfs) deletion Pathogenic rs281865074 GRCh38 Chromosome 10, 98435382: 98435382
39 HPS1 NM_000195.4(HPS1): c.355delC (p.His119Thrfs) deletion Pathogenic rs281865075 GRCh37 Chromosome 10, 100195072: 100195072
40 HPS1 NM_000195.4(HPS1): c.355delC (p.His119Thrfs) deletion Pathogenic rs281865075 GRCh38 Chromosome 10, 98435315: 98435315
41 HPS1 NM_000195.4(HPS1): c.391C> T (p.Arg131Ter) single nucleotide variant Pathogenic rs281865076 GRCh37 Chromosome 10, 100195036: 100195036
42 HPS1 NM_000195.4(HPS1): c.391C> T (p.Arg131Ter) single nucleotide variant Pathogenic rs281865076 GRCh38 Chromosome 10, 98435279: 98435279
43 HPS1 NM_000195.4(HPS1): c.418delG (p.Ala140Argfs) deletion Pathogenic rs281865078 GRCh37 Chromosome 10, 100193829: 100193829
44 HPS1 NM_000195.4(HPS1): c.418delG (p.Ala140Argfs) deletion Pathogenic rs281865078 GRCh38 Chromosome 10, 98434072: 98434072
45 HPS1 NM_000195.4(HPS1): c.532dupC (p.Gln178Profs) duplication Pathogenic rs281865079 GRCh37 Chromosome 10, 100191024: 100191024
46 HPS1 NM_000195.4(HPS1): c.532dupC (p.Gln178Profs) duplication Pathogenic rs281865079 GRCh38 Chromosome 10, 98431267: 98431267
47 HPS1 NM_000195.4(HPS1): c.716T> C (p.Leu239Pro) single nucleotide variant Pathogenic rs281865080 GRCh37 Chromosome 10, 100190380: 100190380
48 HPS1 NM_000195.4(HPS1): c.716T> C (p.Leu239Pro) single nucleotide variant Pathogenic rs281865080 GRCh38 Chromosome 10, 98430623: 98430623
49 HPS1 NM_000195.4(HPS1): c.847G> T (p.Gly283Trp) single nucleotide variant Benign/Likely benign rs11592273 GRCh37 Chromosome 10, 100189568: 100189568
50 HPS1 NM_000195.4(HPS1): c.847G> T (p.Gly283Trp) single nucleotide variant Benign/Likely benign rs11592273 GRCh38 Chromosome 10, 98429811: 98429811

Expression for Hermansky-Pudlak Syndrome 1

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 1.

Pathways for Hermansky-Pudlak Syndrome 1

Pathways related to Hermansky-Pudlak Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.57 PAX3 SOX10
2 9.5 OCA2 SLC45A2 TYR

GO Terms for Hermansky-Pudlak Syndrome 1

Cellular components related to Hermansky-Pudlak Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.56 HPS1 HPS4 SFTPB TYR
2 melanosome GO:0042470 9.33 HPS4 SLC24A5 TYR
3 BLOC-3 complex GO:0031085 8.96 HPS1 HPS4
4 melanosome membrane GO:0033162 8.92 DTNBP1 OCA2 SLC45A2 TYR

Biological processes related to Hermansky-Pudlak Syndrome 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.84 DTNBP1 HPS1 SLC24A5 SLC45A2
2 visual perception GO:0007601 9.7 HPS1 SLC45A2 TYR
3 blood coagulation GO:0007596 9.69 AP3B1 DTNBP1 HPS4
4 lysosome organization GO:0007040 9.5 HPS1 HPS4 LYST
5 anterograde axonal transport GO:0008089 9.49 AP3B1 DTNBP1
6 anterograde synaptic vesicle transport GO:0048490 9.48 AP3B1 DTNBP1
7 organelle organization GO:0006996 9.46 DTNBP1 HPS4
8 developmental pigmentation GO:0048066 9.43 OCA2 SLC45A2
9 pigmentation GO:0043473 9.43 LYST OCA2 TYR
10 melanosome assembly GO:1903232 9.4 HPS1 HPS4
11 eye pigment biosynthetic process GO:0006726 9.37 OCA2 TYR
12 melanocyte differentiation GO:0030318 9.33 HPS4 OCA2 SOX10
13 melanosome organization GO:0032438 9.13 AP3B1 DTNBP1 LYST
14 melanin biosynthetic process GO:0042438 8.8 OCA2 SLC45A2 TYR

Sources for Hermansky-Pudlak Syndrome 1

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