MCID: HRM006
MIFTS: 47

Hermansky-Pudlak Syndrome 3

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 3

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 3:

Name: Hermansky-Pudlak Syndrome 3 53 12 71 28 13 14 69
Hps3 53 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

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

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


HPO:

31
hermansky-pudlak syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 614072
Disease Ontology 12 DOID:0060541
MeSH 41 D022861

Summaries for Hermansky-Pudlak Syndrome 3

UniProtKB/Swiss-Prot : 71 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 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 Anacetrapib and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and retina, and related phenotypes are Increased LDL uptake and homeostasis/metabolism

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 44)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 29.6 HPS3 HPS5 HPS6 TYR TYRP1
2 isolated delta-storage pool disease 12.3
3 hermansky-pudlak syndrome 1 11.4
4 hermansky-pudlak syndrome 6 10.4 HPS5 HPS6
5 storage pool platelet disease 10.4 HPS3 HPS6
6 hermansky-pudlak syndrome 5 10.3 HPS5 HPS6
7 gallbladder melanoma 10.3 MITF PMEL
8 tyrosinase-like 10.3 TYR TYRP1
9 halo nevi 10.2 PMEL TYR
10 skin/hair/eye pigmentation, variation in, 3 10.2 MITF TYR
11 hermansky-pudlak syndrome without pulmonary fibrosis 10.2 HPS3 HPS5 HPS6
12 albinism, ocular, with sensorineural deafness 10.2 MITF TYR
13 melanotic neurilemmoma 10.2 PMEL TYR
14 diffuse meningeal melanocytosis 10.2 PMEL TYR
15 melanoacanthoma 10.2 PMEL TYR
16 pigmented basal cell carcinoma 10.2 MITF TYR
17 amelanotic melanoma 10.2 TYR TYRP1
18 epithelioid cell melanoma 10.2 MITF TYR
19 pulmonary fibrosis 10.2 HPS3 HPS5 HPS6
20 breast angiosarcoma 10.2 MITF TYR
21 tietz albinism-deafness syndrome 10.2 MITF TYR
22 pigmentation disease 10.1 MITF TYR
23 central nervous system melanocytic neoplasm 10.1 PMEL TYR
24 lentigines 10.1 MITF TYR
25 ocular albinism 10.0 MITF TYR
26 vogt-koyanagi-harada disease 10.0 PMEL TYR TYRP1
27 dowling-degos disease 1 10.0 MITF TYR TYRP1
28 dyschromatosis symmetrica hereditaria 10.0 MITF TYR TYRP1
29 angiomyolipoma 10.0 MITF TYR
30 chediak-higashi syndrome 10.0 TYR TYRP1
31 albinism 10.0 MITF TYR TYRP1
32 reticulohistiocytic granuloma 10.0 MITF PTPRC
33 malignant spindle cell melanoma 10.0 MITF PMEL TYR
34 waardenburg's syndrome 10.0 MITF TYR TYRP1
35 skin melanoma 10.0 MITF PMEL TYR
36 cell type cancer 9.9 MITF PMEL TYR
37 melanoma, uveal 9.9 MITF PMEL TYR
38 integumentary system cancer 9.9 MITF TYR
39 oculocutaneous albinism 9.9 HPS3 HPS6 TYR TYRP1
40 generalized atherosclerosis 9.9 APOE SELP
41 vitiligo-associated multiple autoimmune disease susceptibility 1 9.7 MITF PMEL TYR TYRP1
42 melanoma 9.5 MITF PMEL TYR TYRP1
43 carotid stenosis 9.4 APOE SELP
44 microphthalmia 9.3 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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 visual impairment 31 HP:0000505
3 abnormal bleeding 31 HP:0001892
4 abnormal platelet granules 31 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:

25
# 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:

43 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 APOE HPS3 HPS5 HPS6 MITF PMEL
2 hematopoietic system MP:0005397 10.13 HPS3 HPS5 HPS6 APOE MITF PMEL
3 growth/size/body region MP:0005378 10.11 APOE HPS5 HPS6 MITF PTPRC SELP
4 integument MP:0010771 10.1 PMEL SELP TYR TYRP1 APOE DCT
5 immune system MP:0005387 10.03 APOE HPS3 HPS5 HPS6 MITF PTPRC
6 hearing/vestibular/ear MP:0005377 9.97 APOE HPS5 HPS6 MITF TYR TYRP1
7 nervous system MP:0003631 9.97 TYR TYRP1 APOE DCT HPS6 MITF
8 craniofacial MP:0005382 9.92 HPS5 HPS6 MITF TYR TYRP1
9 pigmentation MP:0001186 9.91 APOE DCT HPS3 HPS5 HPS6 MITF
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 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Anacetrapib 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 28 HPS3

Anatomical Context for Hermansky-Pudlak Syndrome 3

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

38
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:

71
# Symbol AA change Variation ID SNP ID
1 HPS3 p.Arg397Trp VAR_013251 rs121908316

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 3:

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

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 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:

# Name GO ID Score Top Affiliating Genes
1 monooxygenase activity GO:0004497 8.96 TYR TYRP1
2 copper ion binding GO:0005507 8.62 DCT TYR

Sources for Hermansky-Pudlak Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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