HPS7
MCID: HRM010
MIFTS: 21

Hermansky-Pudlak Syndrome 7 (HPS7) malady

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

Summaries for Hermansky-Pudlak Syndrome 7

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46OMIM, 32MalaCards
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MalaCards: Hermansky-Pudlak Syndrome 7, also known as hermansky-pudlak syndrome type 7, is related to hermansky-pudlak syndrome 6. An important gene associated with Hermansky-Pudlak Syndrome 7 is DTNBP1 (dystrobrevin binding protein 1). Affiliated tissues include eye and skin.

Description from OMIM:46 614076

Aliases & Classifications for Hermansky-Pudlak Syndrome 7

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Sources:
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


Aliases & Descriptions:

hermansky-pudlak syndrome 7 20 22 46
hermansky-pudlak syndrome type 7 48
hantavirus infections 60
hps7 48


External Ids:

OMIM46 614076
ICD10 via Orphanet26 E70.3

Related Diseases for Hermansky-Pudlak Syndrome 7

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hermansky-Pudlak Syndrome 1 family:

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

Diseases related to Hermansky-Pudlak Syndrome 7 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hermansky-pudlak syndrome 610.0

Clinical Features for Hermansky-Pudlak Syndrome 7

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46OMIM
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Clinical features from OMIM:

614076

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 7

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

Search CenterWatch for Hermansky-Pudlak Syndrome 7

Drug clinical trials:

Search ClinicalTrials for Hermansky-Pudlak Syndrome 7

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 7

Search CenterWatch for Hermansky-Pudlak Syndrome 7

Genetic Tests for Hermansky-Pudlak Syndrome 7

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20GeneTests, 22GTR
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Genetic tests related to Hermansky-Pudlak Syndrome 7:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 720 22 DTNBP1

Anatomical Context for Hermansky-Pudlak Syndrome 7

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32MalaCards
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MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 7:

32
Eye, Skin

Animal Models for Hermansky-Pudlak Syndrome 7 or affiliated genes

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Publications for Hermansky-Pudlak Syndrome 7

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Genetic Variations for Hermansky-Pudlak Syndrome 7

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Expression for genes affiliated with Hermansky-Pudlak Syndrome 7

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hermansky-Pudlak Syndrome 7

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 7.

Pathways for genes affiliated with Hermansky-Pudlak Syndrome 7

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Compounds for genes affiliated with Hermansky-Pudlak Syndrome 7

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GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 7

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Products for genes affiliated with Hermansky-Pudlak Syndrome 7

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hermansky-Pudlak Syndrome 7

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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