MCID: HRM008
MIFTS: 28

Hermansky-Pudlak Syndrome 5 malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases, Endocrine diseases, Respiratory diseases categories
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Summaries for Hermansky-Pudlak Syndrome 5

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MalaCards based summary: Hermansky-Pudlak Syndrome 5 is related to hermansky-pudlak syndrome and hermansky-pudlak syndrome 6, and has symptoms including 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:46 614074

Aliases & Classifications for Hermansky-Pudlak Syndrome 5

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Hermansky-Pudlak Syndrome 5, Aliases & Descriptions:

Name: Hermansky-Pudlak Syndrome 5 20 22 46


Classifications:



Related Diseases for Hermansky-Pudlak Syndrome 5

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Symptoms for Hermansky-Pudlak Syndrome 5

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Clinical features from OMIM:

614074

HPO human phenotypes related to Hermansky-Pudlak Syndrome 5:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 bruising susceptibility HP:0000978
3 albinism HP:0001022
4 ocular albinism HP:0001107
5 thrombocytopenia HP:0001873

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 5

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Drug clinical trials:

Search ClinicalTrials for Hermansky-Pudlak Syndrome 5

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 5

Genetic Tests for Hermansky-Pudlak Syndrome 5

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Genetic tests related to Hermansky-Pudlak Syndrome 5:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 520 22 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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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 5:

36
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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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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UniProtKB/Swiss-Prot genetic disease variations for Hermansky-Pudlak Syndrome 5:

64
id Symbol AA change Variation ID SNP ID
1HPS5p.Leu624ArgVAR_062285
2HPS5p.Thr1098IleVAR_062286rs61884288

Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 5:

6
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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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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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

Sources for Hermansky-Pudlak Syndrome 5

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet