HPS1
MCID: HRM005
MIFTS: 54

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 58 12 76 30 13 6 15
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 58 74
Delta Storage Pool Disease 58 76
Hps1 58 76
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 76
Platelet Storage Pool Deficiency 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
hermansky-pudlak syndrome 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Hermansky-Pudlak Syndrome 1

UniProtKB/Swiss-Prot : 76 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. The drugs Pirfenidone and Losartan have been mentioned in the context of this disorder. 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 : 58 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 45)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome with pulmonary fibrosis 32.9 HPS1 HPS4
2 albinism 31.3 HPS1 HPS4 OCA2 SLC24A5 SLC45A2 TYR
3 oculocutaneous albinism 30.5 AP3B1 HPS1 HPS4 OCA2 SLC24A5 SLC45A2
4 hermansky-pudlak syndrome 30.3 AP3B1 DTNBP1 HPS1 HPS4 TYR
5 chediak-higashi syndrome 30.1 HPS1 LYST TYR
6 isolated delta-storage pool disease 12.5
7 hermansky-pudlak syndrome 3 11.7
8 hermansky-pudlak syndrome 6 11.7
9 hermansky-pudlak syndrome 7 11.7
10 hermansky-pudlak syndrome 8 11.7
11 hermansky-pudlak syndrome 9 11.7
12 pulmonary fibrosis 11.7
13 hermansky-pudlak syndrome 5 11.1
14 hermansky-pudlak syndrome 10 11.1
15 hermansky-pudlak syndrome 2 10.3
16 hermansky-pudlak syndrome 4 10.3
17 posttransplant acute limbic encephalitis 10.3
18 storage pool platelet disease 10.2 AP3B1 HPS4
19 melanoma 10.1
20 ehlers-danlos syndrome 10.0
21 waardenburg syndrome, type 3 9.9 PAX3 SOX10
22 waardenburg syndrome, type 4b 9.9 PAX3 SOX10
23 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 9.9 PAX3 SOX10
24 albinism, ocular, with late-onset sensorineural deafness 9.8 SOX10 TYR
25 malignant spindle cell melanoma 9.8 SOX10 TYR
26 congenital nystagmus 9.8 OCA2 TYR
27 breast angiosarcoma 9.8 SOX10 TYR
28 acute contagious conjunctivitis 9.7 OCA2 TYR
29 diaphragm disease 9.7 PAX3 SFTPB
30 albinism, oculocutaneous, type iii 9.7 OCA2 SLC45A2 TYR
31 waardenburg syndrome, type 2a 9.7 SOX10 TYR
32 ocular albinism 9.7 OCA2 SLC45A2 TYR
33 pathologic nystagmus 9.6 OCA2 SLC45A2 TYR
34 cellular schwannoma 9.6 PAX3 SOX10
35 piebald trait 9.6 LYST PAX3 TYR
36 tietz albinism-deafness syndrome 9.5 PAX3 SOX10 TYR
37 waardenburg syndrome, type 1 9.5 PAX3 SOX10 TYR
38 albinism, oculocutaneous, type ib 9.5 OCA2 SLC24A5 SLC45A2 TYR
39 albinism, oculocutaneous, type v 9.5 OCA2 SLC24A5 SLC45A2 TYR
40 albinism, oculocutaneous, type vii 9.5 OCA2 SLC24A5 SLC45A2 TYR
41 albinism, oculocutaneous, type ia 9.5 OCA2 SLC24A5 SLC45A2 TYR
42 albinism, oculocutaneous, type ii 9.5 OCA2 SLC24A5 SLC45A2 TYR
43 waardenburg's syndrome 9.5 PAX3 SOX10 TYR
44 albinism, oculocutaneous, type iv 9.3 AP3B1 OCA2 SLC24A5 SLC45A2 TYR
45 dyschromatosis symmetrica hereditaria 9.1 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

Human phenotypes related to Hermansky-Pudlak Syndrome 1:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 blindness 33 HP:0000618
3 renal insufficiency 33 HP:0000083
4 pulmonary fibrosis 33 HP:0002206
5 abdominal pain 33 HP:0002027
6 melanocytic nevus 33 HP:0000995
7 cardiomyopathy 33 HP:0001638
8 epistaxis 33 HP:0000421
9 bruising susceptibility 33 HP:0000978
10 gingival bleeding 33 HP:0000225
11 hematochezia 33 HP:0002573
12 prolonged bleeding time 33 HP:0003010
13 ocular albinism 33 HP:0001107
14 freckling 33 HP:0001480
15 restrictive ventilatory defect 33 HP:0002091
16 severely reduced visual acuity 33 HP:0001141
17 albinism 33 HP:0001022
18 colitis 33 HP:0002583
19 freckles in sun-exposed areas 33 HP:0007603
20 abnormal hair morphology 33 HP:0001595

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Hermansky-Pudlak Syndrome 1:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 1:

47 (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 craniofacial MP:0005382 10.1 AP3B1 HPS1 HPS4 LYST OCA2 PAX3
6 hearing/vestibular/ear MP:0005377 10.06 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

Drugs for Hermansky-Pudlak Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
2
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
3
Angiotensin II Approved, Investigational Phase 1, Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
4
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
5
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
6
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 441411 12560
7 Analgesics, Non-Narcotic Phase 2,Phase 1
8 Antirheumatic Agents Phase 2,Phase 1
9 Peripheral Nervous System Agents Phase 2,Phase 1
10 Analgesics Phase 2,Phase 1
11 Anti-Inflammatory Agents Phase 2,Phase 1
12 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
13 Free Radical Scavengers Phase 1, Phase 2
14 Anti-Bacterial Agents Phase 1, Phase 2
15 Antiviral Agents Phase 1, Phase 2
16 Lipoxygenase Inhibitors Phase 1, Phase 2
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
18 Antidotes Phase 1, Phase 2
19 Lipid Regulating Agents Phase 1, Phase 2
20 Anti-Arrhythmia Agents Phase 1, Phase 2
21 Pharmaceutical Solutions Phase 1, Phase 2
22 Hormone Antagonists Phase 1, Phase 2
23 Erythromycin Ethylsuccinate Phase 1, Phase 2
24 Angiotensin Receptor Antagonists Phase 1, Phase 2
25 Leukotriene Antagonists Phase 1, Phase 2
26 Hypolipidemic Agents Phase 1, Phase 2
27 Erythromycin Estolate Phase 1, Phase 2
28 Respiratory System Agents Phase 1, Phase 2
29 Gastrointestinal Agents Phase 1, Phase 2,Phase 2
30 Expectorants Phase 1, Phase 2
31 Antimetabolites Phase 1, Phase 2,Phase 2
32 Giapreza Phase 1, Phase 2
33 Anticholesteremic Agents Phase 1, Phase 2
34 Antihypertensive Agents Phase 1, Phase 2
35 Anti-Infective Agents Phase 1, Phase 2
36 Antioxidants Phase 1, Phase 2
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
38 Erythromycin stearate Phase 1, Phase 2
39 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
40 N-monoacetylcystine Phase 1, Phase 2
41 Hormones Phase 1, Phase 2
42 Angiotensinogen Phase 1, Phase 2
43 Protective 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 Procurement and Analysis of Specimens From Individuals With Pulmonary Fibrosis Recruiting NCT00084305
8 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520

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 30 HPS1

Anatomical Context for Hermansky-Pudlak Syndrome 1

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

42
Lung, Skin, Eye, Breast

Publications for Hermansky-Pudlak Syndrome 1

Articles related to Hermansky-Pudlak Syndrome 1:

(show all 30)
# Title Authors Year
1
Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility. ( 30786955 )
2019
2
Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases. ( 29941477 )
2018
3
A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family. ( 27942505 )
2016
4
Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs). ( 27345974 )
2016
5
Case of Hermansky-Pudlak syndrome 1 in a Japanese infant. ( 25988314 )
2015
6
Case of Hermansky-Pudlak syndrome 1 patient with milder symptoms in Japanese. ( 24479888 )
2014
7
The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 gene. ( 25160823 )
2014
8
A divalent interaction between HPS1 and HPS4 is required for the formation of the biogenesis of lysosome-related organelle complex-3 (BLOC-3). ( 23103514 )
2013
9
Novel mutations in the HPS1 gene among Puerto Rican patients. ( 20662851 )
2011
10
Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). ( 20514622 )
2010
11
The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene. ( 19665357 )
2009
12
Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development. ( 17068483 )
2007
13
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. ( 16185271 )
2005
14
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
15
Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency. ( 15020272 )
2004
16
Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome. ( 15519141 )
2004
17
Novel aberrations of HPS1 mRNA detected in a case of Hermansky-Pudlak syndrome with pulmonary fibrosis. ( 15127980 )
2004
18
Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4. ( 12847290 )
2003
19
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
20
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. ( 12756248 )
2003
21
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
22
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 )
2001
23
Heterozygous HPS1 mutations in a case of Hermansky-Pudlak syndrome with giant melanosomes. ( 10971344 )
2000
24
Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. ( 10411151 )
1999
25
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). ( 9562579 )
1998
26
Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations. ( 9705234 )
1998
27
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. ( 9497254 )
1998
28
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. ( 8896559 )
1996
29
Hermansky-Pudlak syndrome in a Swiss population. ( 8274781 )
1993
30
Comparison of the amino acid sequences of human protamines HP2 and HP3 and of intermediate basic nuclear proteins HPS1 and HPS2. Structural evidence that HPS1 and HPS2 are pro-protamines. ( 3403514 )
1988

Variations for Hermansky-Pudlak Syndrome 1

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 1:

6 (show top 50) (show all 64)
# 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 rs281865082 GRCh38 Chromosome 10, 98427230: 98427230
4 HPS1 NM_000195.4(HPS1): c.972dupC (p.Met325Hisfs) duplication Pathogenic rs281865082 GRCh37 Chromosome 10, 100186987: 100186987
5 HPS1 NM_000195.3(HPS1): c.1996G> T (p.Glu666Ter) single nucleotide variant Pathogenic rs121908385 GRCh37 Chromosome 10, 100177428: 100177428
6 HPS1 NM_000195.3(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.962dup (p.Thr322Hisfs) duplication Pathogenic rs281865081 GRCh38 Chromosome 10, 98427240: 98427240
12 HPS1 NM_000195.4(HPS1): c.962dup (p.Thr322Hisfs) duplication Pathogenic rs281865081 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.1375delA (p.Ser459Valfs) deletion Pathogenic rs281865086 GRCh38 Chromosome 10, 98424335: 98424335
16 HPS1 NM_000195.4(HPS1): c.355delC (p.His119Thrfs) deletion Pathogenic rs281865075 GRCh38 Chromosome 10, 98435315: 98435315
17 HPS1 NM_000195.4(HPS1): c.391C> T (p.Arg131Ter) single nucleotide variant Pathogenic rs281865076 GRCh37 Chromosome 10, 100195036: 100195036
18 HPS1 NM_000195.4(HPS1): c.1323dupA (p.Gln442Thrfs) duplication Pathogenic rs281865085 GRCh38 Chromosome 10, 98425553: 98425553
19 HPS1 NM_000195.4(HPS1): c.1375delA (p.Ser459Valfs) deletion Pathogenic rs281865086 GRCh37 Chromosome 10, 100184092: 100184092
20 HPS1 NM_000195.3(HPS1): c.1189delC (p.Gln397Serfs) deletion Likely pathogenic rs281865084 GRCh37 Chromosome 10, 100185444: 100185444
21 HPS1 NM_000195.3(HPS1): c.1189delC (p.Gln397Serfs) deletion Likely pathogenic rs281865084 GRCh38 Chromosome 10, 98425687: 98425687
22 HPS1 NM_000195.4(HPS1): c.1323dupA (p.Gln442Thrfs) duplication Pathogenic rs281865085 GRCh37 Chromosome 10, 100185310: 100185310
23 HPS1 NM_000195.4(HPS1): c.1472C> G (p.Pro491Arg) single nucleotide variant Benign/Likely benign rs2296434 GRCh37 Chromosome 10, 100183570: 100183570
24 HPS1 NM_000195.4(HPS1): c.1472C> G (p.Pro491Arg) single nucleotide variant Benign/Likely benign rs2296434 GRCh38 Chromosome 10, 98423813: 98423813
25 HPS1 NM_000195.4(HPS1): c.166_168delATC (p.Ile56del) deletion Pathogenic rs281865073 GRCh37 Chromosome 10, 100195479: 100195481
26 HPS1 NM_000195.4(HPS1): c.166_168delATC (p.Ile56del) deletion Pathogenic rs281865073 GRCh38 Chromosome 10, 98435722: 98435724
27 HPS1 NM_000195.4(HPS1): c.1691delA (p.Lys564Argfs) deletion Pathogenic rs281865087 GRCh37 Chromosome 10, 100182178: 100182178
28 HPS1 NM_000195.4(HPS1): c.1691delA (p.Lys564Argfs) deletion Pathogenic rs281865087 GRCh38 Chromosome 10, 98422421: 98422421
29 HPS1 NM_000195.3(HPS1): c.1744-2A> C single nucleotide variant Pathogenic rs281865088 GRCh37 Chromosome 10, 100179917: 100179917
30 HPS1 NM_000195.3(HPS1): c.1744-2A> C single nucleotide variant Pathogenic rs281865088 GRCh38 Chromosome 10, 98420160: 98420160
31 HPS1 NM_000195.4(HPS1): c.1749G> A (p.Trp583Ter) single nucleotide variant Pathogenic rs281865089 GRCh37 Chromosome 10, 100179910: 100179910
32 HPS1 NM_000195.4(HPS1): c.1749G> A (p.Trp583Ter) single nucleotide variant Pathogenic rs281865089 GRCh38 Chromosome 10, 98420153: 98420153
33 HPS1 NM_000195.4(HPS1): c.1808A> G (p.Gln603Arg) single nucleotide variant Benign/Likely benign rs2296436 GRCh37 Chromosome 10, 100179851: 100179851
34 HPS1 NM_000195.4(HPS1): c.1808A> G (p.Gln603Arg) single nucleotide variant Benign/Likely benign rs2296436 GRCh38 Chromosome 10, 98420094: 98420094
35 HPS1 NM_000195.4(HPS1): c.1888G> A (p.Val630Ile) single nucleotide variant Benign rs139061260 GRCh37 Chromosome 10, 100177984: 100177984
36 HPS1 NM_000195.4(HPS1): c.1888G> A (p.Val630Ile) single nucleotide variant Benign rs139061260 GRCh38 Chromosome 10, 98418227: 98418227
37 HPS1 NM_000195.4(HPS1): c.2003T> C (p.Leu668Pro) single nucleotide variant Pathogenic rs281865090 GRCh37 Chromosome 10, 100177421: 100177421
38 HPS1 NM_000195.4(HPS1): c.2003T> C (p.Leu668Pro) single nucleotide variant Pathogenic rs281865090 GRCh38 Chromosome 10, 98417664: 98417664
39 HPS1 NM_000195.4(HPS1): c.288delT (p.Asp97Thrfs) deletion Pathogenic rs281865074 GRCh37 Chromosome 10, 100195139: 100195139
40 HPS1 NM_000195.4(HPS1): c.288delT (p.Asp97Thrfs) deletion Pathogenic rs281865074 GRCh38 Chromosome 10, 98435382: 98435382
41 HPS1 NM_000195.4(HPS1): c.355delC (p.His119Thrfs) deletion Pathogenic rs281865075 GRCh37 Chromosome 10, 100195072: 100195072
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
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50 NCI
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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