MCID: HRM006
MIFTS: 46

Hermansky-Pudlak Syndrome 3

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



External Ids:

OMIM 57 614072
Disease Ontology 12 DOID:0060541
MeSH 44 D022861

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 and isolated delta-storage pool disease, 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 Aldosterone synthesis and secretion and Tyrosine metabolism. The drugs Anacetrapib and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and retina, and related phenotypes are visual impairment and nystagmus

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 all 40)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 29.3 HPS3 HPS5 HPS6 TYR TYRP1
2 isolated delta-storage pool disease 12.3
3 hermansky-pudlak syndrome 1 11.4
4 storage pool platelet disease 10.6 HPS3 HPS6
5 hermansky-pudlak syndrome 6 10.6 HPS5 HPS6
6 gallbladder melanoma 10.5 MITF PMEL
7 hermansky-pudlak syndrome 5 10.4 HPS5 HPS6
8 halo nevi 10.4 PMEL TYR
9 hermansky-pudlak syndrome without pulmonary fibrosis 10.4 HPS3 HPS5 HPS6
10 melanotic neurilemmoma 10.4 PMEL TYR
11 albinism, ocular, with sensorineural deafness 10.3 MITF TYR
12 diffuse meningeal melanocytosis 10.3 PMEL TYR
13 melanoacanthoma 10.3 PMEL TYR
14 pigmented basal cell carcinoma 10.3 MITF TYR
15 amelanotic melanoma 10.3 TYR TYRP1
16 epithelioid cell melanoma 10.2 MITF TYR
17 pulmonary fibrosis 10.2 HPS3 HPS5 HPS6
18 breast angiosarcoma 10.2 MITF TYR
19 tietz albinism-deafness syndrome 10.2 MITF TYR
20 pigmentation disease 10.2 MITF TYR
21 central nervous system melanocytic neoplasm 10.1 PMEL TYR
22 vogt-koyanagi-harada disease 10.0 PMEL TYR TYRP1
23 angiomyolipoma 10.0 MITF TYR
24 chediak-higashi syndrome 10.0 TYR TYRP1
25 dowling-degos disease 1 10.0 MITF TYR TYRP1
26 dyschromatosis symmetrica hereditaria 10.0 MITF TYR TYRP1
27 ocular albinism 10.0 MITF TYR TYRP1
28 albinism 10.0 MITF TYR TYRP1
29 malignant spindle cell melanoma 9.9 MITF PMEL TYR
30 waardenburg's syndrome 9.9 MITF TYR TYRP1
31 cell type cancer 9.9 MITF PMEL TYR
32 reticulohistiocytic granuloma 9.9 MITF PTPRC
33 melanoma, uveal 9.9 MITF PMEL TYR
34 skin melanoma 9.8 MITF PMEL TYR
35 integumentary system cancer 9.8 MITF TYR
36 generalized atherosclerosis 9.8 APOE SELP
37 vitiligo-associated multiple autoimmune disease susceptibility 1 9.5 MITF PMEL TYR TYRP1
38 oculocutaneous albinism 9.4 HPS3 HPS5 HPS6 TYR TYRP1
39 carotid stenosis 9.0 APOE SELP
40 microphthalmia 8.9 DCT MITF PMEL TYR TYRP1

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:
reduced vision
horizontal nystagmus
iris transillumination
hypopigmentation of retina
hypopigmentation of choroid

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

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

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


Clinical features from OMIM:

614072

Human phenotypes related to Hermansky-Pudlak Syndrome 3:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 nystagmus 32 HP:0000639
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
# 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 PMEL PTPRC SELP TYRP1 APOE CP
3 growth/size/body region MP:0005378 10.11 SELP TYR TYRP1 APOE HPS5 HPS6
4 integument MP:0010771 10.1 APOE DCT HPS3 HPS5 HPS6 MITF
5 immune system MP:0005387 10.09 MITF PTPRC SELP TYR APOE CP
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 TYR TYRP1 APOE CP DCT HPS3
9 craniofacial MP:0005382 9.92 HPS5 HPS6 MITF TYR TYRP1
10 no phenotypic analysis MP:0003012 9.87 PMEL PTPRC TYR APOE HPS3 HPS5
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 Anti-Infective Agents
4 Antimetabolites
5 Hydroxymethylglutaryl-CoA Reductase Inhibitors
6 Hypolipidemic Agents
7 Lipid Regulating Agents
8 Oxazolidinones

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Effect of Anacetrapib on Vascular Function and Arterial Stiffness Recruiting 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, 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

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 15)
# 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

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:

# 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 9.73 CP DCT TYR TYRP1
2 melanocyte differentiation GO:0030318 9.43 HPS6 MITF TYRP1
3 melanosome organization GO:0032438 9.4 PMEL TYRP1
4 developmental pigmentation GO:0048066 9.37 DCT PMEL
5 organelle organization GO:0006996 9.33 HPS3 HPS5 HPS6
6 melanin biosynthetic process from tyrosine GO:0006583 9.32 DCT TYR
7 melanin biosynthetic process GO:0042438 9.26 DCT PMEL TYR TYRP1
8 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 9.26 CP DCT TYR TYRP1
2 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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