MCID: HRM009
MIFTS: 26

Hermansky-Pudlak Syndrome 6 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 6

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MalaCards based summary: Hermansky-Pudlak Syndrome 6 is related to hermansky-pudlak syndrome 5 and hermansky-pudlak syndrome, and has symptoms including An important gene associated with Hermansky-Pudlak Syndrome 6 is HPS6 (Hermansky-Pudlak syndrome 6). Related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Description from OMIM:46 614075

Aliases & Classifications for Hermansky-Pudlak Syndrome 6

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Hermansky-Pudlak Syndrome 6, Aliases & Descriptions:

Name: Hermansky-Pudlak Syndrome 6 20 22 46


Classifications:



Related Diseases for Hermansky-Pudlak Syndrome 6

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Symptoms for Hermansky-Pudlak Syndrome 6

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Clinical features from OMIM:

614075

HPO human phenotypes related to Hermansky-Pudlak Syndrome 6:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 epistaxis HP:0000421
3 albinism HP:0001022
4 ocular albinism HP:0001107
5 impaired adp-induced platelet aggregation HP:0004866
6 abnormal platelet granules HP:0011883

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 6

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Drug clinical trials:

Search ClinicalTrials for Hermansky-Pudlak Syndrome 6

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 6

Genetic Tests for Hermansky-Pudlak Syndrome 6

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Genetic tests related to Hermansky-Pudlak Syndrome 6:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 620 22 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome 6

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Animal Models for Hermansky-Pudlak Syndrome 6 or affiliated genes

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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 6:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4HPS6, HPS5
2MP:00053779.3HPS6, HPS5
3MP:00053679.3HPS6, HPS5
4MP:00053719.0GDF5, HPS5
5MP:00053829.0HPS6, HPS5

Publications for Hermansky-Pudlak Syndrome 6

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Variations for Hermansky-Pudlak Syndrome 6

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Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 6:

6
id Gene Name Type Significance SNP ID Assembly Location
1HPS6HPS6, 1-BP INS, 1066GinsertionPathogenic
2HPS6HPS6, 2-BP DEL, 1865TGdeletionPathogenic
3HPS6NM_024747.5(HPS6): c.913C> T (p.Gln305Ter)single nucleotide variantPathogenicrs281865110GRCh37Chr 10, 103826144: 103826144
4HPS6HPS6, 1-BP DUP, 238GduplicationPathogenic
5HPS6NM_024747.5(HPS6): c.815C> T (p.Thr272Ile)single nucleotide variantPathogenicrs281865109GRCh37Chr 10, 103826046: 103826046
6HPS6NM_024747.5(HPS6): c.223C> T (p.Gln75Ter)single nucleotide variantPathogenicrs281865107GRCh37Chr 10, 103825454: 103825454
7HPS6NM_024747.5(HPS6): c.1234C> T (p.Gln412Ter)single nucleotide variantPathogenicrs281865112GRCh37Chr 10, 103826465: 103826465
8HPS6NM_024747.5(HPS6): c.1713_1716delTCTG (p.Leu572Alafs)deletionPathogenicrs281865113GRCh37Chr 10, 103826944: 103826947
9NC_000005.10: g.104486890_104506841del19952deletionPathogenicGRCh37Chr 5, 103822591: 103842542

Expression for genes affiliated with Hermansky-Pudlak Syndrome 6

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Expression patterns in normal tissues for genes affiliated with Hermansky-Pudlak Syndrome 6

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 6.

Pathways for genes affiliated with Hermansky-Pudlak Syndrome 6

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Compounds for genes affiliated with Hermansky-Pudlak Syndrome 6

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GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 6

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Cellular components related to Hermansky-Pudlak Syndrome 6 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BLOC-2 complexGO:0310849.3HPS6, HPS5

Biological processes related to Hermansky-Pudlak Syndrome 6 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.3HPS6, HPS5
2organelle organizationGO:0069969.0HPS6, HPS5

Products for genes affiliated with Hermansky-Pudlak Syndrome 6

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hermansky-Pudlak Syndrome 6

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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