MCID: HRM009
MIFTS: 34

Hermansky-Pudlak Syndrome 6 malady

Genetic diseases, Eye diseases, Skin diseases, Blood diseases, Rare diseases, Endocrine diseases, Respiratory diseases categories
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Summaries for Hermansky-Pudlak Syndrome 6

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47OMIM, 33MalaCards
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MalaCards: Hermansky-Pudlak Syndrome 6, also known as hermansky-pudlak syndrome without pulmonary fibrosis, is related to hermansky-pudlak syndrome 3 and hermansky-pudlak syndrome 5. An important gene associated with Hermansky-Pudlak Syndrome 6 is HPS6 (Hermansky-Pudlak syndrome 6). Affiliated tissues include eye and skin, and related mouse phenotypes are renal/urinary system and hearing/vestibular/ear.

Description from OMIM:47 614075,614072,614074

Aliases & Classifications for Hermansky-Pudlak Syndrome 6

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20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
hermansky-pudlak syndrome without pulmonary fibrosis:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hermansky-pudlak syndrome 6 20 22 47
hermansky-pudlak syndrome without pulmonary fibrosis 49
hps without pulmonary fibrosis 49
hantavirus infections 62


External Ids:

ICD10 via Orphanet26 E70.3

Related Diseases for Hermansky-Pudlak Syndrome 6

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Hermansky-Pudlak Syndrome 6:



Diseases related to hermansky-pudlak syndrome 6

Symptoms for Hermansky-Pudlak Syndrome 6

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47OMIM
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Clinical features from OMIM:

614075,614072,614074

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 6

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42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 6:

33
Eye, Skin

Animal Models for Hermansky-Pudlak Syndrome 6 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 6:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.0HPS5, HPS6
2MP:00053778.9HPS6, HPS5
3MP:00053828.7HPS5, HPS6
4MP:00011868.7HPS3, HPS5, HPS6
5MP:00053918.7HPS6, HPS5, HPS3
6MP:00107718.7HPS3, HPS5, HPS6
7MP:00053978.6HPS6, HPS5, HPS3
8MP:00053878.6HPS3, HPS5, HPS6
9MP:00053768.5HPS6, HPS5, HPS3

Publications for Hermansky-Pudlak Syndrome 6

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Variations for Hermansky-Pudlak Syndrome 6

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 6:

1
id Gene Name Type Significance SNP ID Assembly Location
1HPS6HPS6, 1-BP INS, 1066GinsertionPathogenic/card/hermansky_pudlak_syndrome_6
2HPS6HPS6, 2-BP DEL, 1865TGdeletionPathogenic/card/hermansky_pudlak_syndrome_6
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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16Gene Ontology
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Cellular components related to Hermansky-Pudlak Syndrome 6 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BLOC-2 complexGO:0310848.5HPS6, HPS5, HPS3

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.0HPS6, HPS5
2pigmentationGO:0434738.8HPS5, HPS3
3organelle organizationGO:0069968.4HPS6, HPS5, HPS3

Products for genes affiliated with Hermansky-Pudlak Syndrome 6

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  • Antibodies
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Sources for Hermansky-Pudlak Syndrome 6

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet