MCID: HRM006
MIFTS: 30

Hermansky-Pudlak Syndrome 3 malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Blood diseases, Endocrine diseases, Respiratory diseases categories
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Summaries for Hermansky-Pudlak Syndrome 3

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47OMIM, 33MalaCards
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MalaCards: Hermansky-Pudlak Syndrome 3, also known as hantavirus infections, is related to hermansky-pudlak syndrome and hermansky-pudlak syndrome 5. An important gene associated with Hermansky-Pudlak Syndrome 3 is HPS3 (Hermansky-Pudlak syndrome 3). Related mouse phenotypes are renal/urinary system and hearing/vestibular/ear.

Description from OMIM:47 614072

Aliases & Classifications for Hermansky-Pudlak Syndrome 3

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20GeneTests, 22GTR, 47OMIM, 62UMLS
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Classifications:



Aliases & Descriptions:

hermansky-pudlak syndrome 3 20 22 47
hantavirus infections 62


Related Diseases for Hermansky-Pudlak Syndrome 3

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Hermansky-Pudlak Syndrome 3:



Diseases related to hermansky-pudlak syndrome 3

Symptoms for Hermansky-Pudlak Syndrome 3

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47OMIM
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Clinical features from OMIM:

614072

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 3

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hermansky-Pudlak Syndrome 3

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 3

Genetic Tests for Hermansky-Pudlak Syndrome 3

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20GeneTests, 22GTR
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Genetic tests related to Hermansky-Pudlak Syndrome 3:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 320 22 HPS3

Anatomical Context for Hermansky-Pudlak Syndrome 3

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Animal Models for Hermansky-Pudlak Syndrome 3 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 3:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1HPS5, HPS6
2MP:00053779.0HPS6, HPS5
3MP:00053828.8HPS5, HPS6
4MP:00011868.7HPS3, HPS5, HPS6
5MP:00053918.7HPS6, HPS5, HPS3
6MP:00107718.7HPS3, HPS5, HPS6
7MP:00053978.6HPS6, HPS5, HPS3
8MP:00053878.6HPS3, HPS5, HPS6
9MP:00053768.5HPS6, HPS5, HPS3

Publications for Hermansky-Pudlak Syndrome 3

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52PubMed
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Articles related to Hermansky-Pudlak Syndrome 3:

idTitleAuthorsYear
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

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hermansky-Pudlak Syndrome 3:

64
id Symbol AA change Variation ID SNP ID
1HPS3p.Arg397TrpVAR_013251

Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1NM_032383.3(HPS3): c.2888-1612G> Asingle nucleotide variantPathogenicrs281865096GRCh37Chr 3, 148888270: 148888270
2NM_032383.3(HPS3): c.2482-2A> Gsingle nucleotide variantPathogenicrs397507168GRCh37Chr 3, 148881627: 148881627
3HPS3HPS3, 3904-BP DELdeletionPathogenic
4HPS3NM_032383.3(HPS3): c.1163+1G> Asingle nucleotide variantPathogenicrs201227603GRCh37Chr 3, 148863334: 148863334
5HPS3NM_032383.3(HPS3): c.1691+2T> Gsingle nucleotide variantPathogenicrs281865093GRCh37Chr 3, 148875320: 148875320
6HPS3HPS3, 2621-2A-Gsingle nucleotide variantPathogenic
7NM_032383.3(HPS3): c.2589+1G> Csingle nucleotide variantPathogenicrs281865095GRCh37Chr 3, 148881737: 148881737
8HPS3NM_032383.3(HPS3): c.1189C> T (p.Arg397Trp)single nucleotide variantPathogenicrs121908316GRCh37Chr 3, 148868411: 148868411
9HPS3HPS3, 89-BP INSinsertionPathogenic

Expression for genes affiliated with Hermansky-Pudlak Syndrome 3

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hermansky-Pudlak Syndrome 3

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

Pathways for genes affiliated with Hermansky-Pudlak Syndrome 3

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Compounds for genes affiliated with Hermansky-Pudlak Syndrome 3

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GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 3

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16Gene Ontology
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Cellular components related to Hermansky-Pudlak Syndrome 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BLOC-2 complexGO:0310848.5HPS6, HPS5, HPS3

Biological processes related to Hermansky-Pudlak Syndrome 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.1HPS6, HPS5
2pigmentationGO:0434739.0HPS5, HPS3
3organelle organizationGO:0069968.4HPS6, HPS5, HPS3

Products for genes affiliated with Hermansky-Pudlak Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hermansky-Pudlak Syndrome 3

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet