HPS3
MCID: HRM006
MIFTS: 51

Hermansky-Pudlak Syndrome 3 (HPS3)

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 3

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 3:

Name: Hermansky-Pudlak Syndrome 3 57 12 75 29 13 6 15 73
Hps3 57 75
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 73
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 75
Hermansky-Pudlak Syndrome, Type 3 40
Platelet Storage Pool Deficiency 73
Delta Storage Pool Disease 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
less severe phenotype than patients with other forms of hps


HPO:

32
hermansky-pudlak syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hermansky-Pudlak Syndrome 3

UniProtKB/Swiss-Prot : 75 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 hermansky-pudlak syndrome 6 and hermansky-pudlak syndrome 5, and has symptoms including abdominal pain 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 Cushing syndrome and Phenylalanine metabolism. The drugs Anacetrapib and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and eye, and related phenotypes are nystagmus and visual impairment

Disease Ontology : 12 A Hermasky-Pudlak syndrome that has material basis in 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 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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 6 32.4 HPS5 HPS6
2 hermansky-pudlak syndrome 5 32.4 HPS5 HPS6
3 pulmonary fibrosis 32.2 HPS3 HPS5 HPS6
4 storage pool platelet disease 32.1 HPS3 HPS6
5 oculocutaneous albinism 31.7 HPS3 HPS5 HPS6 TYR TYRP1
6 hermansky-pudlak syndrome without pulmonary fibrosis 31.7 HPS3 HPS5 HPS6
7 hermansky-pudlak syndrome 30.1 HPS3 HPS5 HPS6 TYR TYRP1
8 isolated delta-storage pool disease 12.5
9 hermansky-pudlak syndrome 1 11.6
10 hermansky-pudlak syndrome 2 11.4
11 hermansky-pudlak syndrome 4 11.4
12 hermansky-pudlak syndrome 7 11.4
13 hermansky-pudlak syndrome 8 11.4
14 hermansky-pudlak syndrome 9 11.4
15 gallbladder melanoma 10.2 MITF PMEL
16 halo nevi 10.1 PMEL TYR
17 albinism, oculocutaneous, type iii 10.1 TYR TYRP1
18 albinism, ocular, with late-onset sensorineural deafness 10.1 MITF TYR
19 albinism, ocular, with sensorineural deafness 10.1 MITF TYR
20 melanoacanthoma 10.1 PMEL TYR
21 pigmented basal cell carcinoma 10.1 MITF TYR
22 diffuse meningeal melanocytosis 10.1 PMEL TYR
23 albinism, oculocutaneous, type ib 10.1 TYR TYRP1
24 hypomelanosis of ito 10.1 MITF TYR
25 albinism, oculocutaneous, type v 10.1 TYR TYRP1
26 amelanotic melanoma 10.1 TYR TYRP1
27 epithelioid cell melanoma 10.1 MITF TYR
28 albinism, oculocutaneous, type vii 10.1 TYR TYRP1
29 breast angiosarcoma 10.1 MITF TYR
30 albinism, oculocutaneous, type ia 10.1 TYR TYRP1
31 tietz albinism-deafness syndrome 10.1 MITF TYR
32 central nervous system melanocytic neoplasm 10.0 PMEL TYR
33 pathologic nystagmus 10.0 HPS5 HPS6 TYR
34 waardenburg syndrome, type 1 10.0 MITF TYR
35 dyschromatosis symmetrica hereditaria 10.0 MITF TYR
36 vogt-koyanagi-harada disease 10.0 PMEL TYR TYRP1
37 albinism 10.0 MITF TYR TYRP1
38 dowling-degos disease 1 10.0 MITF TYR TYRP1
39 waardenburg syndrome, type 2a 10.0 MITF TYR TYRP1
40 ocular albinism 10.0 MITF TYR TYRP1
41 angiomyolipoma 10.0 MITF TYR
42 chediak-higashi syndrome 10.0 TYR TYRP1
43 malignant spindle cell melanoma 10.0 MITF PMEL TYR
44 waardenburg's syndrome 10.0 MITF TYR TYRP1
45 skin melanoma 10.0 MITF PMEL TYR
46 reticulohistiocytic granuloma 10.0 MITF PTPRC
47 melanoma, uveal 10.0 MITF PMEL TYR
48 schizophrenia 2 9.9 APOE TYR
49 piebald trait 9.9 MITF TYR
50 generalized atherosclerosis 9.9 APOE SELP

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
horizontal nystagmus
iris transillumination
reduced vision
hypopigmentation of retina
hypopigmentation of choroid

Hematology:
bleeding diathesis
absence of platelet dense bodies
lack of secondary aggregation response of platelets

Skin Nails Hair Skin:
easy bruising
skin pigment dilution relative to unaffected family members

Skin Nails Hair Hair:
hair pigment dilution relative to unaffected family members


Clinical features from OMIM:

614072

Human phenotypes related to Hermansky-Pudlak Syndrome 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 visual impairment 32 HP:0000505
3 abnormal bleeding 32 HP:0001892
4 bruising susceptibility 32 HP:0000978
5 horizontal nystagmus 32 HP:0000666
6 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
# 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:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.2 APOE CP HPS3 HPS5 HPS6 MITF
2 hematopoietic system MP:0005397 10.18 APOE CP HPS3 HPS5 HPS6 MITF
3 growth/size/body region MP:0005378 10.11 APOE HPS5 HPS6 MITF PTPRC SELP
4 integument MP:0010771 10.1 APOE DCT HPS3 HPS5 HPS6 MITF
5 immune system MP:0005387 10.09 APOE CP HPS3 HPS5 HPS6 MITF
6 nervous system MP:0003631 10.02 APOE CP DCT HPS6 MITF PTPRC
7 hearing/vestibular/ear MP:0005377 9.97 APOE HPS5 HPS6 MITF TYR TYRP1
8 pigmentation MP:0001186 9.96 APOE CP DCT HPS3 HPS5 HPS6
9 craniofacial MP:0005382 9.92 HPS5 HPS6 MITF TYR TYRP1
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 9.36 APOE CP DCT HPS3 HPS5 HPS6

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 3

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anacetrapib Investigational 875446-37-0
2 Anticholesteremic Agents
3 Lipid Regulating Agents
4 Anti-Infective Agents
5 Oxazolidinones
6 Hydroxymethylglutaryl-CoA Reductase Inhibitors
7 Hypolipidemic Agents
8 Antimetabolites

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Anacetrapib on Vascular Function and Arterial Stiffness Completed NCT02931188 Anacetrapib;Statin;Placebo

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 3

Genetic Tests for Hermansky-Pudlak Syndrome 3

Genetic tests related to Hermansky-Pudlak Syndrome 3:

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

Anatomical Context for Hermansky-Pudlak Syndrome 3

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

41
Lung, Skin, Eye, Retina

Publications for Hermansky-Pudlak Syndrome 3

Articles related to Hermansky-Pudlak Syndrome 3:

# 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
2
The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. ( 11707070 )
2001

Variations for Hermansky-Pudlak Syndrome 3

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

75
# Symbol AA change Variation ID SNP ID
1 HPS3 p.Arg397Trp VAR_013251 rs121908316

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 3:

6 (show all 23)
# 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.(-3010)_(217)+692del deletion Pathogenic GRCh37 Chromosome 3, 148844501: 148848419
3 HPS3 NM_032383.4(HPS3): c.1163+1G> A single nucleotide variant Pathogenic rs201227603 GRCh37 Chromosome 3, 148863334: 148863334
4 HPS3 NM_032383.4(HPS3): c.1163+1G> A single nucleotide variant Pathogenic rs201227603 GRCh38 Chromosome 3, 149145547: 149145547
5 HPS3 NM_032383.4(HPS3): c.1691+2T> G single nucleotide variant Pathogenic rs281865093 GRCh37 Chromosome 3, 148875320: 148875320
6 HPS3 NM_032383.4(HPS3): c.1691+2T> G single nucleotide variant Pathogenic rs281865093 GRCh38 Chromosome 3, 149157533: 149157533
7 HPS3 NM_032383.4(HPS3): c.2482-2A> G single nucleotide variant Pathogenic rs397507168 GRCh38 Chromosome 3, 149163840: 149163840
8 HPS3 NM_032383.4(HPS3): c.2482-2A> G single nucleotide variant Pathogenic rs397507168 GRCh37 Chromosome 3, 148881627: 148881627
9 HPS3 NM_032383.4(HPS3): c.2589+1G> C single nucleotide variant Pathogenic rs281865095 GRCh37 Chromosome 3, 148881737: 148881737
10 HPS3 NM_032383.4(HPS3): c.2589+1G> C single nucleotide variant Pathogenic rs281865095 GRCh38 Chromosome 3, 149163950: 149163950
11 HPS3 NM_032383.4(HPS3): c.1189C> T (p.Arg397Trp) single nucleotide variant Pathogenic rs121908316 GRCh37 Chromosome 3, 148868411: 148868411
12 HPS3 NM_032383.4(HPS3): c.1189C> T (p.Arg397Trp) single nucleotide variant Pathogenic rs121908316 GRCh38 Chromosome 3, 149150624: 149150624
13 HPS3 HPS3, 89-BP INS insertion Pathogenic
14 CP; HPS3 NM_032383.4(HPS3): c.2888-1612G> A single nucleotide variant Pathogenic rs281865096 GRCh37 Chromosome 3, 148888270: 148888270
15 CP; HPS3 NM_032383.4(HPS3): c.2888-1612G> A single nucleotide variant Pathogenic rs281865096 GRCh38 Chromosome 3, 149170483: 149170483
16 HPS3 NM_032383.4(HPS3): c.970+7A> G single nucleotide variant Benign/Likely benign rs114029765 GRCh38 Chromosome 3, 149141387: 149141387
17 HPS3 NM_032383.4(HPS3): c.970+7A> G single nucleotide variant Benign/Likely benign rs114029765 GRCh37 Chromosome 3, 148859174: 148859174
18 HPS3 NM_032383.4(HPS3): c.823G> A (p.Glu275Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34388030 GRCh37 Chromosome 3, 148858914: 148858914
19 HPS3 NM_032383.4(HPS3): c.823G> A (p.Glu275Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs34388030 GRCh38 Chromosome 3, 149141127: 149141127
20 HPS3 NM_032383.4(HPS3): c.2736_2739del (p.Glu913Aspfs) deletion Likely pathogenic GRCh37 Chromosome 3, 148884967: 148884970
21 HPS3 NM_032383.4(HPS3): c.2736_2739del (p.Glu913Aspfs) deletion Likely pathogenic GRCh38 Chromosome 3, 149167180: 149167183
22 HPS3 NM_032383.4(HPS3): c.89_114del (p.Arg30Leufs) deletion Likely pathogenic GRCh37 Chromosome 3, 148847594: 148847620
23 HPS3 NM_032383.4(HPS3): c.89_114del (p.Arg30Leufs) deletion Likely pathogenic GRCh38 Chromosome 3, 149129812: 149129837

Expression for Hermansky-Pudlak Syndrome 3

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

Pathways for Hermansky-Pudlak Syndrome 3

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 DCT MITF TYR TYRP1
2
Show member pathways
11.22 DCT TYR TYRP1
3 10.76 APOE PTPRC
4 9.5 DCT TYR TYRP1

GO Terms for Hermansky-Pudlak Syndrome 3

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

# 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:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.78 CP DCT TYR TYRP1
2 regulation of gene expression GO:0010468 9.63 APOE MITF PTPRC
3 leukocyte cell-cell adhesion GO:0007159 9.43 PTPRC SELP
4 melanocyte differentiation GO:0030318 9.43 HPS6 MITF TYRP1
5 calcium-mediated signaling using intracellular calcium source GO:0035584 9.4 PTPRC SELP
6 melanosome organization GO:0032438 9.37 PMEL TYRP1
7 organelle organization GO:0006996 9.33 HPS3 HPS5 HPS6
8 melanin biosynthetic process from tyrosine GO:0006583 9.32 DCT TYR
9 melanin biosynthetic process GO:0042438 9.26 DCT PMEL TYR TYRP1
10 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:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 CP DCT TYR TYRP1
2 heparin binding GO:0008201 9.13 APOE PTPRC SELP
3 copper ion binding GO:0005507 8.8 CP DCT TYR

Sources for Hermansky-Pudlak Syndrome 3

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
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