MCID: HRM005
MIFTS: 52

Hermansky-Pudlak Syndrome 1

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 1

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 1:

Name: Hermansky-Pudlak Syndrome 1 54 12 24 71 29 13 14
Hps1 24 71
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 69
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 71
Platelet Storage Pool Deficiency 69
Delta Storage Pool Disease 71
Hps 1 24
Hps-1 24

Characteristics:

OMIM:

54
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 : 71 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 hps1, is related to chediak-higashi syndrome and isolated delta-storage pool disease, and has symptoms including nystagmus, renal insufficiency and severe visual impairment. 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 Acetylcysteine and Erythromycin have been mentioned in the context of this disorder. Affiliated tissues include lung and skin, and related phenotypes are behavior/neurological and homeostasis/metabolism

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 : 54
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 3 Hermansky-Pudlak Syndrome 2
Hermansky-Pudlak Syndrome 7 Hermansky-Pudlak Syndrome 1
Hermansky-Pudlak Syndrome 6 Hermansky-Pudlak Syndrome 5
Hermansky-Pudlak Syndrome 9 Hermansky-Pudlak Syndrome 10
Hermansky-Pudlak Syndrome 8 Hermansky-Pudlak Syndrome 4

Diseases related to Hermansky-Pudlak Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
id Related Disease Score Top Affiliating Genes
1 chediak-higashi syndrome 30.1 HPS1 LYST TYR
2 isolated delta-storage pool disease 12.2
3 hermansky-pudlak syndrome 2 11.2
4 pharyngeal-cervical-brachial variant of guillain-barré syndrome 10.6 HPS1 HPS4
5 cystic angiomatosis of bone, diffuse 10.5 AP3B1 HPS4
6 hermansky-pudlak syndrome 10.4
7 fallopian tube serous papilloma 10.0 SOX10 TYR
8 thyroid angiosarcoma 9.9 SOX10 TYR
9 oral mucosa leukoplakia 9.9 OCA2 TYR
10 small intestine diverticulitis 9.8 OCA2 TYR
11 rh deficiency syndrome 9.7 OCA2 SLC45A2 TYR
12 waardenburg syndrome, type 3 9.6 PAX3 SOX10
13 pseudohermaphroditism 9.5 AP3B1 DTNBP1 HPS1 HPS4 TYR
14 biliary papillomatosis 9.5 PAX3 SOX10
15 ascaridiasis 9.5 PAX3 SOX10
16 mixed lacrimal gland cancer 9.4 PAX3 SOX10
17 melanoma, cutaneous malignant 8 9.2 PAX3 SOX10 TYR
18 collagenopathy, types ii and xi 9.2 HPS1 HPS4 OCA2 SLC45A2 TYR
19 intestinal atresia 9.2 PAX3 SFTPB
20 tyrosinemia 9.2 PAX3 SOX10 TYR
21 primary cutaneous amyloidosis 8.9 AP3B1 HPS4 OCA2 SLC24A5 SLC45A2 TYR
22 dyschromatosis symmetrica hereditaria 8.4 LYST OCA2 PAX3 SOX10 TYR
23 agammaglobulinemia 4 5.9 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2

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:

54

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- Nose:
epistaxis

Hematology:
bleeding diathesis
easy bruisability
prolonged bleeding time
absent dense bodies in platelets
normal platelet counts
more
Skin Nails & Hair- Skin:
pigmented nevi
albinism
creamy white skin
tanning possible
freckles in sun-exposed areas

Laboratory- Abnormalities:
hair bulb tyrosinase present

Genitourinary- Kidneys:
renal failure

Respiratory- Lung:
restrictive lung disease
interstitial pulmonary fibrosis

Abdomen- Gastroin testinal:
abdominal pain
bloody diarrhea
inflammatory bowel disease
granulomatous colitis

Head And Neck- Mouth:
gingival bleeding

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 19)
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 renal insufficiency 32 HP:0000083
3 severe visual impairment 32 HP:0001141
4 cardiomyopathy 32 HP:0001638
5 epistaxis 32 HP:0000421
6 abdominal pain 32 HP:0002027
7 freckling 32 HP:0001480
8 prolonged bleeding time 32 HP:0003010
9 pulmonary fibrosis 32 HP:0002206
10 gingival bleeding 32 HP:0000225
11 ocular albinism 32 HP:0001107
12 hematochezia 32 HP:0002573
13 albinism 32 HP:0001022
14 freckles in sun-exposed areas 32 HP:0007603
15 restrictive ventilatory defect 32 HP:0002091
16 melanocytic nevus 32 HP:0000995
17 inflammation of the large intestine 32 HP:0002037
18 bruising susceptibility 32 HP:0000978
19 abnormality of the hair 32 HP:0001595

UMLS symptoms related to Hermansky-Pudlak Syndrome 1:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 1:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 AP3B1 DTNBP1 LYST OCA2 PAX3 SFTPB
2 homeostasis/metabolism MP:0005376 10.21 HPS4 LYST OCA2 PAX3 SFTPB SLC24A5
3 growth/size/body region MP:0005378 10.18 AP3B1 HPS1 HPS4 LYST OCA2 PAX3
4 integument MP:0010771 10.14 HPS4 LYST OCA2 PAX3 SLC24A5 SLC45A2
5 cellular MP:0005384 10.11 AP3B1 HPS1 HPS4 LYST OCA2 PAX3
6 craniofacial MP:0005382 10.1 OCA2 PAX3 SLC24A5 TYR AP3B1 HPS1
7 hearing/vestibular/ear MP:0005377 10.06 AP3B1 HPS1 HPS4 LYST OCA2 PAX3
8 pigmentation MP:0001186 10 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
9 limbs/digits/tail MP:0005371 9.91 AP3B1 HPS1 LYST OCA2 PAX3 SOX10
10 no phenotypic analysis MP:0003012 9.8 LYST OCA2 PAX3 TYR AP3B1 HPS1
11 renal/urinary system MP:0005367 9.76 AP3B1 DTNBP1 HPS1 HPS4 LYST OCA2
12 respiratory system MP:0005388 9.43 AP3B1 HPS1 LYST PAX3 SFTPB SOX10
13 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 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
2
Erythromycin Approved, Vet_approved Phase 1, Phase 2 114-07-8 12560
3
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
4
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
5
Angiotensin II Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
6 Analgesics Phase 1, Phase 2
7 Analgesics, Non-Narcotic Phase 1, Phase 2
8 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
9 Angiotensin Receptor Antagonists Phase 1, Phase 2
10 Angiotensinogen Phase 1, Phase 2
11 Anti-Arrhythmia Agents Phase 1, Phase 2
12 Anti-Bacterial Agents Phase 1, Phase 2
13 Anticholesteremic Agents Phase 1, Phase 2
14 Antidotes Phase 1, Phase 2
15 Antihypertensive Agents Phase 1, Phase 2
16 Anti-Infective Agents Phase 1, Phase 2
17 Anti-Inflammatory Agents Phase 1, Phase 2
18 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
19 Antimetabolites Phase 1, Phase 2
20 Antioxidants Phase 1, Phase 2
21 Antirheumatic Agents Phase 1, Phase 2
22 Antiviral Agents Phase 1, Phase 2
23 Erythromycin Estolate Phase 1, Phase 2
24 Erythromycin Ethylsuccinate Phase 1, Phase 2
25 Erythromycin stearate Phase 1, Phase 2
26 Expectorants Phase 1, Phase 2
27 Gastrointestinal Agents Phase 1, Phase 2
28 Hormone Antagonists Phase 1, Phase 2
29 Hormones Phase 1, Phase 2
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
31 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
32 Hypolipidemic Agents Phase 1, Phase 2
33 Leukotriene Antagonists Phase 1, Phase 2
34 Lipid Regulating Agents Phase 1, Phase 2
35 Lipoxygenase Inhibitors Phase 1, Phase 2
36 N-monoacetylcystine Phase 1, Phase 2
37 Peripheral Nervous System Agents Phase 1, Phase 2
38 Pharmaceutical Solutions Phase 1, Phase 2
39 Protective Agents Phase 1, Phase 2
40 Respiratory System Agents Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 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
2 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
3 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:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 1 29 24 HPS1

Anatomical Context for Hermansky-Pudlak Syndrome 1

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

39
Lung, Skin

Publications for Hermansky-Pudlak Syndrome 1

Articles related to Hermansky-Pudlak Syndrome 1:

id Title Authors Year
1
Case of Hermansky-Pudlak syndrome 1 in a Japanese infant. ( 25988314 )
2015
2
Case of Hermansky-Pudlak syndrome 1 patient with milder symptoms in Japanese. ( 24479888 )
2014
3
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
4
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
5
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 all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1 HPS1 NM_000195.4(HPS1): c.962dupG (p.Thr322Hisfs) duplication Pathogenic rs606231156 GRCh38 Chromosome 10, 98427240: 98427240
2 HPS1 NM_000195.4(HPS1): c.398+5G> A single nucleotide variant Pathogenic rs281865077 GRCh37 Chromosome 10, 100195024: 100195024
3 HPS1 NM_000195.4(HPS1): c.1472_1487dup16 (p.His497Glnfs) duplication Pathogenic rs281865163 GRCh37 Chromosome 10, 100183555: 100183570
4 HPS1 NM_000195.4(HPS1): c.972dupC (p.Met325Hisfs) duplication Pathogenic rs281865083 GRCh38 Chromosome 10, 98427230: 98427230
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.972delC (p.Met325Trpfs) deletion Pathogenic rs281865082 GRCh38 Chromosome 10, 98427230: 98427230
7 HPS1 NM_000195.4(HPS1): c.397G> T (p.Glu133Ter) single nucleotide variant Pathogenic rs121908386 GRCh37 Chromosome 10, 100195030: 100195030
8 HPS1 NM_000195.4(HPS1): c.1189delC (p.Gln397Serfs) deletion Pathogenic/Likely pathogenic rs281865084 GRCh37 Chromosome 10, 100185444: 100185444
9 HPS1 NM_000195.4(HPS1): c.1323dupA (p.Gln442Thrfs) duplication Pathogenic rs281865085 GRCh37 Chromosome 10, 100185310: 100185310
10 HPS1 NM_000195.4(HPS1): c.1375delA (p.Ser459Valfs) deletion Pathogenic rs281865086 GRCh37 Chromosome 10, 100184092: 100184092
11 HPS1 NM_000195.4(HPS1): c.166_168delATC (p.Ile56del) deletion Pathogenic rs281865073 GRCh37 Chromosome 10, 100195479: 100195481
12 HPS1 NM_000195.4(HPS1): c.1691delA (p.Lys564Argfs) deletion Pathogenic rs281865087 GRCh37 Chromosome 10, 100182178: 100182178
13 HPS1 NM_000195.4(HPS1): c.1744-2A> C single nucleotide variant Pathogenic rs281865088 GRCh37 Chromosome 10, 100179917: 100179917
14 HPS1 NM_000195.4(HPS1): c.1749G> A (p.Trp583Ter) single nucleotide variant Pathogenic rs281865089 GRCh37 Chromosome 10, 100179910: 100179910
15 HPS1 NM_000195.4(HPS1): c.2003T> C (p.Leu668Pro) single nucleotide variant Pathogenic rs281865090 GRCh37 Chromosome 10, 100177421: 100177421
16 HPS1 NM_000195.4(HPS1): c.288delT (p.Asp97Thrfs) deletion Pathogenic rs281865074 GRCh37 Chromosome 10, 100195139: 100195139
17 HPS1 NM_000195.4(HPS1): c.355delC (p.His119Thrfs) deletion Pathogenic rs281865075 GRCh37 Chromosome 10, 100195072: 100195072
18 HPS1 NM_000195.4(HPS1): c.391C> T (p.Arg131Ter) single nucleotide variant Pathogenic rs281865076 GRCh37 Chromosome 10, 100195036: 100195036
19 HPS1 NM_000195.4(HPS1): c.418delG (p.Ala140Argfs) deletion Pathogenic rs281865078 GRCh37 Chromosome 10, 100193829: 100193829
20 HPS1 NM_000195.4(HPS1): c.532dupC (p.Gln178Profs) duplication Pathogenic rs281865079 GRCh37 Chromosome 10, 100191024: 100191024
21 HPS1 NM_000195.4(HPS1): c.716T> C (p.Leu239Pro) single nucleotide variant Pathogenic rs281865080 GRCh37 Chromosome 10, 100190380: 100190380
22 HPS1 NM_000195.4(HPS1): c.932delG (p.Ser311Thrfs) deletion Pathogenic rs281865091 GRCh37 Chromosome 10, 100189335: 100189335
23 HPS1 NM_000195.4(HPS1): c.962delG (p.Gly321Alafs) deletion Pathogenic rs281865081 GRCh37 Chromosome 10, 100186997: 100186997
24 HPS1 NM_000195.4(HPS1): c.974_975insC (p.Met325Ilefs) insertion Pathogenic rs281865092 GRCh37 Chromosome 10, 100186984: 100186985
25 DTNBP1 NM_032122.4(DTNBP1): c.177G> A (p.Trp59Ter) single nucleotide variant Pathogenic rs727502866 GRCh38 Chromosome 6, 15637789: 15637789
26 HPS1 NM_000195.4(HPS1): c.233_242delACTTCCTGTA (p.Asn78Metfs) deletion Pathogenic rs773323079 GRCh38 Chromosome 10, 98435648: 98435657

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.67 AP3B1 DTNBP1 HPS1 HPS4
2 lysosome GO:0005764 9.56 HPS1 HPS4 SFTPB TYR
3 melanosome GO:0042470 9.33 HPS4 SLC24A5 TYR
4 axon cytoplasm GO:1904115 9.32 AP3B1 DTNBP1
5 BLOC-3 complex GO:0031085 8.96 HPS1 HPS4
6 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)
id 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 pigmentation GO:0043473 9.5 LYST OCA2 TYR
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 lysosome organization GO:0007040 9.43 HPS1 HPS4 LYST
10 melanosome assembly GO:1903232 9.4 HPS1 HPS4
11 eye pigment biosynthetic process GO:0006726 9.37 OCA2 TYR
12 melanosome organization GO:0032438 9.33 AP3B1 DTNBP1 LYST
13 melanocyte differentiation GO:0030318 9.13 HPS4 OCA2 SOX10
14 melanin biosynthetic process GO:0042438 8.8 OCA2 SLC45A2 TYR

Sources for Hermansky-Pudlak Syndrome 1

3 CDC
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11 DGIdb
16 ExPASy
18 FMA
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