MCID: HRM006
MIFTS: 30

Hermansky-Pudlak Syndrome 3 malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Blood diseases, Endocrine diseases, Respiratory diseases categories

Summaries for Hermansky-Pudlak Syndrome 3

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48OMIM, 34MalaCards
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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:48 614072

Aliases & Classifications for Hermansky-Pudlak Syndrome 3

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21GeneTests, 23GTR, 48OMIM, 63UMLS
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Classifications:



Aliases & Descriptions:

hermansky-pudlak syndrome 3 21 23 48
hantavirus infections 63


Related Diseases for Hermansky-Pudlak Syndrome 3

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18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

614072

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 3

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Hermansky-Pudlak Syndrome 3

Genetic Tests for Hermansky-Pudlak Syndrome 3

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21GeneTests, 23GTR
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Genetic tests related to Hermansky-Pudlak Syndrome 3:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 321 23 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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38MGI
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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 3:

38
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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53PubMed
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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hermansky-Pudlak Syndrome 3:

65
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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hermansky-Pudlak Syndrome 3

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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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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet