HPS7
MCID: HRM010
MIFTS: 23

Hermansky-Pudlak Syndrome 7 (HPS7) 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 7

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47OMIM, 33MalaCards
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MalaCards: Hermansky-Pudlak Syndrome 7, also known as hermansky-pudlak syndrome type 7, is related to hermansky-pudlak syndrome and hermansky-pudlak syndrome 1. An important gene associated with Hermansky-Pudlak Syndrome 7 is DTNBP1 (dystrobrevin binding protein 1). Affiliated tissues include skin and eye.

Description from OMIM:47 614076

Aliases & Classifications for Hermansky-Pudlak Syndrome 7

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



Aliases & Descriptions:

hermansky-pudlak syndrome 7 20 22 47
hermansky-pudlak syndrome type 7 49
hantavirus infections 62
hps7 49


External Ids:

OMIM47 614076
ICD10 via Orphanet26 E70.3

Related Diseases for Hermansky-Pudlak Syndrome 7

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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 syndrome10.4
2hermansky-pudlak syndrome 110.1

Symptoms for Hermansky-Pudlak Syndrome 7

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47OMIM
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Clinical features from OMIM:

614076

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 7

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hermansky-Pudlak Syndrome 7

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 7:

33
Skin, Eye

Animal Models for Hermansky-Pudlak Syndrome 7 or affiliated genes

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Publications for Hermansky-Pudlak Syndrome 7

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Variations for Hermansky-Pudlak Syndrome 7

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 7:

1
id Gene Name Type Significance SNP ID Assembly Location
1DTNBP1NM_032122.4(DTNBP1): c.307C> T (p.Gln103Ter)single nucleotide variantPathogenicrs104893945GRCh37Chr 6, 15627622: 15627622

Expression for genes affiliated with Hermansky-Pudlak Syndrome 7

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Sources:
2BioGPS, 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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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