MCID: HRM008
MIFTS: 28

Hermansky-Pudlak Syndrome 5 malady

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

Summaries for Hermansky-Pudlak Syndrome 5

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48OMIM, 34MalaCards
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MalaCards: Hermansky-Pudlak Syndrome 5, also known as hantavirus infections, is related to hermansky-pudlak syndrome and hermansky-pudlak syndrome 6. An important gene associated with Hermansky-Pudlak Syndrome 5 is HPS5 (Hermansky-Pudlak syndrome 5). Related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Description from OMIM:48 614074

Aliases & Classifications for Hermansky-Pudlak Syndrome 5

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



Aliases & Descriptions:

hermansky-pudlak syndrome 5 21 23 48
hantavirus infections 63


Related Diseases for Hermansky-Pudlak Syndrome 5

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18GeneCards, 19GeneDecks
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Symptoms for Hermansky-Pudlak Syndrome 5

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48OMIM
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Clinical features from OMIM:

614074

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 5

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

Search CenterWatch for Hermansky-Pudlak Syndrome 5

Drug clinical trials:

Search ClinicalTrials for Hermansky-Pudlak Syndrome 5

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 5

Search CenterWatch for Hermansky-Pudlak Syndrome 5

Genetic Tests for Hermansky-Pudlak Syndrome 5

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21GeneTests, 23GTR
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Genetic tests related to Hermansky-Pudlak Syndrome 5:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 521 23 HPS5

Anatomical Context for Hermansky-Pudlak Syndrome 5

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Animal Models for Hermansky-Pudlak Syndrome 5 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 5:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3HPS6, HPS5
2MP:00053779.2HPS6, HPS5
3MP:00053829.2HPS6, HPS5
4MP:00053679.1HPS5, HPS6
5MP:00053859.1HPS6, HPS5
6MP:00053919.0HPS6, HPS5
7MP:00107718.8HPS6, HPS5

Publications for Hermansky-Pudlak Syndrome 5

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53PubMed
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Articles related to Hermansky-Pudlak Syndrome 5:

idTitleAuthorsYear
1
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). (17156100)
2007
2
The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene. (17632576)
2007

Variations for Hermansky-Pudlak Syndrome 5

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hermansky-Pudlak Syndrome 5:

65
id Symbol AA change Variation ID SNP ID
1HPS5p.Leu624ArgVAR_062285
2HPS5p.Thr1098IleVAR_062286rs61884288

Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 5:

1
id Gene Name Type Significance SNP ID Assembly Location
1HPS5NM_181507.1(HPS5): c.1871T> G (p.Leu624Arg)single nucleotide variantPathogenicrs281865102GRCh37Chr 11, 18313558: 18313558
2HPS5NM_181507.1(HPS5): c.2593C> T (p.Arg865Ter)single nucleotide variantPathogenicrs281865104GRCh37Chr 11, 18309206: 18309206
3HPS5NM_181507.1(HPS5): c.2624delT (p.Leu875Cysfs)deletionPathogenicrs281865105GRCh37Chr 11, 18309175: 18309175
4HPS5NM_181507.1(HPS5): c.2928_2929dupGA (p.Thr977Argfs)duplicationPathogenicrs397507169GRCh37Chr 11, 18306914: 18306915
5HPS5NM_181507.1(HPS5): c.3293C> T (p.Thr1098Ile)single nucleotide variantPathogenicrs61884288GRCh37Chr 11, 18303533: 18303533
6HPS5NM_181507.1(HPS5): c.879dupC (p.Lys294Glnfs)duplicationPathogenicrs281865101GRCh37Chr 11, 18326985: 18326986
7HPS5NM_181507.1(HPS5): c.2025_2028delAGTT (p.Val676Metfs)deletionPathogenicrs281865103GRCh37Chr 11, 18313401: 18313404

Expression for genes affiliated with Hermansky-Pudlak Syndrome 5

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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 5

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 5.

Pathways for genes affiliated with Hermansky-Pudlak Syndrome 5

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Compounds for genes affiliated with Hermansky-Pudlak Syndrome 5

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GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 5

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17Gene Ontology
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Cellular components related to Hermansky-Pudlak Syndrome 5 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BLOC-2 complexGO:0310849.1HPS6, HPS5

Biological processes related to Hermansky-Pudlak Syndrome 5 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.1HPS6, HPS5
2organelle organizationGO:0069968.8HPS6, HPS5

Products for genes affiliated with Hermansky-Pudlak Syndrome 5

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hermansky-Pudlak Syndrome 5

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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