MCID: HRM008
MIFTS: 32

Hermansky-Pudlak Syndrome 5 malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases categories

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 autosomal recessive inheritance, bruising susceptibility and albinism. 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:47 614074

Aliases & Classifications for Hermansky-Pudlak Syndrome 5

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Hermansky-Pudlak Syndrome 5, Aliases & Descriptions:

Name: Hermansky-Pudlak Syndrome 5 47 11 22 24


Classifications:



External Ids:

OMIM47 614074

Related Diseases for Hermansky-Pudlak Syndrome 5

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Diseases in the Hermansky-Pudlak Syndrome family:

Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 2
Hermansky-Pudlak Syndrome 7 Hermansky-Pudlak Syndrome 1
Hermansky-Pudlak Syndrome 6 hermansky-pudlak syndrome 5
Hermansky-Pudlak Syndrome 9 Hermansky-Pudlak Syndrome 8
Hermansky-Pudlak Syndrome 4

Diseases related to Hermansky-Pudlak Syndrome 5 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hermansky-pudlak syndrome30.8HPS6, HPS5
2hermansky-pudlak syndrome 610.0HPS6
3platelet storage pool deficiency10.0HPS6, HPS5
4oculocutaneous albinism10.0HPS6, HPS5

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 522 24 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:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3HPS5, HPS6
2MP:00053779.2HPS6, HPS5
3MP:00053829.2HPS5, HPS6
4MP:00053679.1HPS6, HPS5
5MP:00053859.1HPS5, HPS6
6MP:00053919.0HPS5, HPS6
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:

7
id Gene Variation 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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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:00310849.1HPS6, HPS5

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.1HPS6, HPS5
2organelle organizationGO:00069968.8HPS6, HPS5

Products for genes affiliated with Hermansky-Pudlak Syndrome 5

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  • Antibodies
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  • Kits and Assays

Sources for Hermansky-Pudlak Syndrome 5

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet