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

Summaries for Hermansky-Pudlak Syndrome 7

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 614076

Aliases & Classifications for Hermansky-Pudlak Syndrome 7

About this section
Sources:
21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:



Aliases & Descriptions:

hermansky-pudlak syndrome 7 21 23 48
hermansky-pudlak syndrome type 7 50
hantavirus infections 63
hps7 50


External Ids:

OMIM48 614076
ICD10 via Orphanet27 E70.3

Related Diseases for Hermansky-Pudlak Syndrome 7

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

614076

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 7

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Hermansky-Pudlak Syndrome 7:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 721 23 DTNBP1

Anatomical Context for Hermansky-Pudlak Syndrome 7

About this section
Sources:
34MalaCards
See all sources

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

34
Skin, Eye

Animal Models for Hermansky-Pudlak Syndrome 7 or affiliated genes

About this section

Publications for Hermansky-Pudlak Syndrome 7

About this section

Variations for Hermansky-Pudlak Syndrome 7

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Hermansky-Pudlak Syndrome 7

About this section

GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 7

About this section

Products for genes affiliated with Hermansky-Pudlak Syndrome 7

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hermansky-Pudlak Syndrome 7

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet