MCID: HRM009
MIFTS: 34

Hermansky-Pudlak Syndrome 6 malady

Eye diseases, Skin diseases, Metabolic diseases, Blood diseases categories

Summaries for Hermansky-Pudlak Syndrome 6

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46OMIM, 32MalaCards
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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 hearing/vestibular/ear and pigmentation.

Description from OMIM:46 614075,614072,614074

Aliases & Classifications for Hermansky-Pudlak Syndrome 6

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20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Eye diseases, Skin diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
hermansky-pudlak syndrome without pulmonary fibrosis:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

hermansky-pudlak syndrome 6 20 22 46
hermansky-pudlak syndrome without pulmonary fibrosis 48
hps without pulmonary fibrosis 48
hantavirus infections 60


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 the top 20 diseases related to Hermansky-Pudlak Syndrome 6:



Diseases related to hermansky-pudlak syndrome 6

Clinical Features for Hermansky-Pudlak Syndrome 6

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46OMIM
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Clinical features from OMIM:

614075,614072,614074

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 6

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 6:

32
Eye, Skin

Animal Models for Hermansky-Pudlak Syndrome 6 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 6:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7HPS5, HPS6
2MP:00011868.7HPS3, HPS5, HPS6
3MP:00053918.6HPS6, HPS5, HPS3
4MP:00107718.6HPS3, HPS5, HPS6
5MP:00053978.5HPS6, HPS5, HPS3
6MP:00053768.5HPS3, HPS5, HPS6
7MP:00053878.4HPS3, HPS5, HPS6

Publications for Hermansky-Pudlak Syndrome 6

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Genetic Variations for Hermansky-Pudlak Syndrome 6

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Expression for genes affiliated with Hermansky-Pudlak Syndrome 6

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1BioGPS, 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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Biological processes related to Hermansky-Pudlak Syndrome 6 according to GeneCards/GeneDecks:

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

Products for genes affiliated with Hermansky-Pudlak Syndrome 6

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet