HPS3
MCID: HRM006
MIFTS: 46

Hermansky-Pudlak Syndrome 3 (HPS3) malady

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 3

Aliases & Descriptions for Hermansky-Pudlak Syndrome 3:

Name: Hermansky-Pudlak Syndrome 3 54 12 24 66 29 13 14 69
Hps3 24 66
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 69
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 66
Platelet Storage Pool Deficiency 69
Delta Storage Pool Disease 66
Hps 3 24
Hps-3 24

Characteristics:

HPO:

32
hermansky-pudlak syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614072
Disease Ontology 12 DOID:0060541
MedGen 40 CN068829
MeSH 42 D022861

Summaries for Hermansky-Pudlak Syndrome 3

UniProtKB/Swiss-Prot : 66 Hermansky-Pudlak syndrome 3: 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 3, also known as hps3, is related to isolated delta-storage pool disease and hermansky-pudlak syndrome 2, and has symptoms including nystagmus, visual impairment and abnormal bleeding. An important gene associated with Hermansky-Pudlak Syndrome 3 is HPS3 (HPS3, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 1), and among its related pathways/superpathways are Wnt Signaling Pathways: beta-Catenin-independent Wnt/Ca2+ Signaling and Other Non-canonical Wnt Signaling Pathways and Tyrosine metabolism. The drugs Acetylcysteine and Erythromycin have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotypes are Increased LDL uptake and homeostasis/metabolism

Disease Ontology : 12 A type of Hermasky-Pudlak syndrome caused by homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24.

Description from OMIM: 614072

Related Diseases for Hermansky-Pudlak Syndrome 3

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

(show all 38)
id Related Disease Score Top Affiliating Genes
1 isolated delta-storage pool disease 12.2
2 hermansky-pudlak syndrome 2 11.5
3 hyperkeratosis lenticularis perstans 10.3 HPS3 HPS6
4 hypomagnesemia 6, renal 10.3 HPS5 HPS6
5 mediastinitis 10.2 MITF PMEL
6 muscular dystrophy, limb-girdle, type 2l 10.2 HPS5 HPS6
7 idiopathic hypercalciuria 10.2 HPS3 HPS5 HPS6
8 hashimoto's encephalitis 10.2 PMEL TYR
9 melanoma, cutaneous malignant 8 10.2 MITF TYR
10 epilepsy, progressive myoclonic 5 10.2 MITF TYR
11 demyelinating disease 10.2 PMEL TYR
12 ovarian surface papilloma 10.1 PMEL TYR
13 intracranial embolism 10.1 MITF TYR
14 portal vein thrombosis 10.1 PMEL TYR
15 stomach diverticulosis 10.1 TYR TYRP1
16 external ear basal cell carcinoma 10.1 MITF TYR
17 gallbladder disease 10.1 TYR TYRP1
18 cerebral artery occlusion 10.1 MITF TYR
19 mental retardation, autosomal recessive 47 10.0 TYR TYRP1
20 anterior corneal pigmentation 10.0 PMEL TYR TYRP1
21 epidermolysis bullosa simplex, recessive 1 10.0 MITF TYR TYRP1
22 aicardi-goutieres syndrome 6 10.0 MITF TYR TYRP1
23 verrucous papilloma 10.0 MITF PMEL TYR
24 myopathy of extraocular muscle 10.0 MITF TYR TYRP1
25 arterial calcification of infancy 10.0 MITF TYR
26 lattice corneal dystrophy 10.0 MITF PMEL TYR
27 hermansky-pudlak syndrome 10.0
28 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.0 MITF TYR TYRP1
29 malignant pleural solitary fibrous tumor 10.0 MITF PMEL TYR
30 neuromuscular disease 10.0 MITF PTPRC
31 gangliosidosis gm1 10.0 MITF TYR
32 anauxetic dysplasia 1 10.0 HPS3 HPS6 TYR TYRP1
33 pediatric germ cell cancer 10.0 MITF PMEL TYR
34 nelson syndrome 9.9 PMEL TYR
35 leukorrhea 9.9 HPS3 HPS5 HPS6 TYR TYRP1
36 cystinosis 9.8 DCT MITF TYR TYRP1
37 nail disorder, nonsyndromic congenital, 7 9.7 DCT MITF PMEL TYR TYRP1
38 craniosynostosis 6 8.6 APOE DCT HPS3 HPS5 HPS6 MITF

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 3:



Diseases related to Hermansky-Pudlak Syndrome 3

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 3

Clinical features from OMIM:

614072

Human phenotypes related to Hermansky-Pudlak Syndrome 3:

32
id Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 visual impairment 32 HP:0000505
3 abnormal bleeding 32 HP:0001892
4 abnormal platelet granules 32 HP:0011883

UMLS symptoms related to Hermansky-Pudlak Syndrome 3:


abdominal pain

GenomeRNAi Phenotypes related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased LDL uptake GR00340-A-1 8.62 APOE SELP

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 3:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 APOE HPS3 HPS5 HPS6 MITF PMEL
2 growth/size/body region MP:0005378 10.11 APOE HPS5 HPS6 MITF PTPRC SELP
3 integument MP:0010771 10.1 APOE DCT HPS3 HPS5 HPS6 MITF
4 hematopoietic system MP:0005397 10.08 SELP APOE HPS3 HPS5 HPS6 MITF
5 immune system MP:0005387 10.03 APOE HPS3 HPS5 HPS6 MITF PTPRC
6 hearing/vestibular/ear MP:0005377 9.97 HPS5 HPS6 MITF TYR TYRP1 APOE
7 nervous system MP:0003631 9.97 APOE DCT HPS6 MITF PTPRC SELP
8 craniofacial MP:0005382 9.92 TYR TYRP1 HPS5 HPS6 MITF
9 pigmentation MP:0001186 9.91 TYRP1 APOE DCT HPS3 HPS5 HPS6
10 no phenotypic analysis MP:0003012 9.87 APOE HPS3 HPS5 MITF PMEL PTPRC
11 renal/urinary system MP:0005367 9.63 APOE HPS5 HPS6 PTPRC SELP TYR
12 skeleton MP:0005390 9.43 APOE MITF PTPRC SELP TYR TYRP1
13 vision/eye MP:0005391 9.32 APOE DCT HPS3 HPS5 HPS6 MITF

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 3

Drugs for Hermansky-Pudlak Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
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
Pirfenidone Investigational Phase 2 53179-13-8 40632
6 Anticholesteremic Agents Phase 1, Phase 2
7 Anti-Infective Agents Phase 1, Phase 2
8 Antimetabolites Phase 1, Phase 2
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
10 Hypolipidemic Agents Phase 1, Phase 2
11 Lipid Regulating Agents Phase 1, Phase 2
12 Analgesics Phase 2,Phase 1
13 Analgesics, Non-Narcotic Phase 2,Phase 1
14 Anti-Inflammatory Agents Phase 2,Phase 1
15 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
16 Antirheumatic Agents Phase 2,Phase 1
17 Peripheral Nervous System Agents Phase 2,Phase 1
18
Angiotensin II Phase 1, Phase 2 68521-88-0, 11128-99-7 65143 172198
19 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
20 Angiotensin Receptor Antagonists Phase 1, Phase 2
21 Angiotensinogen Phase 1, Phase 2
22 Anti-Arrhythmia Agents Phase 1, Phase 2
23 Anti-Bacterial Agents Phase 1, Phase 2
24 Antidotes Phase 1, Phase 2
25 Antihypertensive Agents Phase 1, Phase 2
26 Antioxidants Phase 1, Phase 2
27 Antiviral Agents Phase 1, Phase 2
28 Erythromycin Estolate Phase 1, Phase 2
29 Erythromycin Ethylsuccinate Phase 1, Phase 2
30 Erythromycin stearate Phase 1, Phase 2
31 Expectorants Phase 1, Phase 2
32 Gastrointestinal Agents Phase 1, Phase 2
33 Hormone Antagonists Phase 1, Phase 2
34 Hormones Phase 1, Phase 2
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
36 Leukotriene Antagonists Phase 1, Phase 2
37 Lipoxygenase Inhibitors Phase 1, Phase 2
38 N-monoacetylcystine Phase 1, Phase 2
39 Pharmaceutical Solutions Phase 1, Phase 2
40 Protective Agents Phase 1, Phase 2
41 Respiratory System Agents Phase 1, Phase 2
42
Anacetrapib 875446-37-0
43 Oxazolidinones

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 The Effect of Anacetrapib on Vascular Function and Arterial Stiffness Recruiting NCT02931188

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 3

Genetic Tests for Hermansky-Pudlak Syndrome 3

Genetic tests related to Hermansky-Pudlak Syndrome 3:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 3 29 24 HPS3

Anatomical Context for Hermansky-Pudlak Syndrome 3

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 3:

39
Lung

Publications for Hermansky-Pudlak Syndrome 3

Articles related to Hermansky-Pudlak Syndrome 3:

id Title Authors Year
1
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). ( 14718540 )
2004

Variations for Hermansky-Pudlak Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Hermansky-Pudlak Syndrome 3:

66
id Symbol AA change Variation ID SNP ID
1 HPS3 p.Arg397Trp VAR_013251 rs121908316

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HPS3 NM_032383.4(HPS3): c.(-3010)_(217)+692del deletion Pathogenic GRCh38 Chromosome 3, 149126714: 149130632
2 HPS3 NM_032383.4(HPS3): c.1163+1G> A single nucleotide variant Pathogenic rs201227603 GRCh37 Chromosome 3, 148863334: 148863334
3 HPS3 NM_032383.4(HPS3): c.1691+2T> G single nucleotide variant Pathogenic rs281865093 GRCh37 Chromosome 3, 148875320: 148875320
4 HPS3 NM_032383.4(HPS3): c.2482-2A> G single nucleotide variant Pathogenic rs397507168 GRCh38 Chromosome 3, 149163840: 149163840
5 HPS3 NM_032383.4(HPS3): c.2589+1G> C single nucleotide variant Pathogenic rs281865095 GRCh37 Chromosome 3, 148881737: 148881737
6 HPS3 NM_032383.4(HPS3): c.1189C> T (p.Arg397Trp) single nucleotide variant Pathogenic rs121908316 GRCh37 Chromosome 3, 148868411: 148868411
7 HPS3 HPS3, 89-BP INS insertion Pathogenic
8 CP; HPS3 NM_032383.4(HPS3): c.2888-1612G> A single nucleotide variant Pathogenic rs281865096 GRCh37 Chromosome 3, 148888270: 148888270

Expression for Hermansky-Pudlak Syndrome 3

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 3.

Pathways for Hermansky-Pudlak Syndrome 3

GO Terms for Hermansky-Pudlak Syndrome 3

Cellular components related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 melanosome GO:0042470 9.46 DCT PMEL TYR TYRP1
2 clathrin-coated endocytic vesicle membrane GO:0030669 9.26 APOE TYRP1
3 melanosome membrane GO:0033162 9.13 DCT TYR TYRP1
4 BLOC-2 complex GO:0031084 8.8 HPS3 HPS5 HPS6

Biological processes related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 melanocyte differentiation GO:0030318 9.43 HPS6 MITF TYRP1
2 melanosome organization GO:0032438 9.4 PMEL TYRP1
3 developmental pigmentation GO:0048066 9.37 DCT PMEL
4 organelle organization GO:0006996 9.33 HPS3 HPS5 HPS6
5 melanin biosynthetic process from tyrosine GO:0006583 9.32 DCT TYR
6 melanin biosynthetic process GO:0042438 9.26 DCT PMEL TYR TYRP1
7 pigmentation GO:0043473 9.17 DCT HPS3 HPS5 HPS6 MITF TYR

Molecular functions related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 8.8 DCT TYR TYRP1

Sources for Hermansky-Pudlak Syndrome 3

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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