MCID: HRM009
MIFTS: 30

Hermansky-Pudlak Syndrome 6 malady

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

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 autosomal recessive inheritance, epistaxis and albinism. 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:47 614075

Aliases & Classifications for Hermansky-Pudlak Syndrome 6

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Hermansky-Pudlak Syndrome 6, Aliases & Descriptions:

Name: Hermansky-Pudlak Syndrome 6 47 11 22 24


Classifications:



External Ids:

OMIM47 614075

Related Diseases for Hermansky-Pudlak Syndrome 6

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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 6 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hermansky-pudlak syndrome 510.0HPS5
2hermansky-pudlak syndrome10.0HPS6, HPS5
3platelet storage pool deficiency10.0HPS6, HPS5
4oculocutaneous albinism10.0HPS6, HPS5

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 622 24 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:

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 6

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Variations for Hermansky-Pudlak Syndrome 6

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Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 6:

7
id Gene Variation 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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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:00310849.1HPS6, HPS5

Biological processes related to Hermansky-Pudlak Syndrome 6 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 6

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hermansky-Pudlak Syndrome 6

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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