HPS7
MCID: HRM010
MIFTS: 25

Hermansky-Pudlak Syndrome 7 (HPS7) malady

Genetic diseases, Eye diseases, Skin diseases, Metabolic diseases, Blood diseases, Rare diseases, Endocrine diseases, Respiratory diseases categories

Summaries for Hermansky-Pudlak Syndrome 7

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MalaCards based summary: Hermansky-Pudlak Syndrome 7, also known as HPS7, is related to hermansky-pudlak syndrome and hermansky-pudlak syndrome 1, and has symptoms including autosomal recessive inheritance, bruising susceptibility and albinism. 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:
21GeneTests, 23GTR, 46OMIM, 61UMLS, 48Orphanet, 27ICD10 via Orphanet
See all sources

Hermansky-Pudlak Syndrome 7, Aliases & Descriptions:

Name: Hermansky-Pudlak Syndrome 7 21 23 46 61
Hps7 48 61
 
Hermansky-Pudlak Syndrome Type 7 48


Classifications:



External Ids:

ICD10 via Orphanet27 E70.3
OMIM46 614076

Related Diseases for Hermansky-Pudlak Syndrome 7

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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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Clinical features from OMIM:

614076

HPO human phenotypes related to Hermansky-Pudlak Syndrome 7:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 bruising susceptibility HP:0000978
3 albinism HP:0001022
4 ocular albinism HP:0001107
5 impaired platelet aggregation HP:0003540

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 7

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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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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

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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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Variations for Hermansky-Pudlak Syndrome 7

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Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 7:

7
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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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
  • Proteins
  • Kits and Assays

Sources for Hermansky-Pudlak Syndrome 7

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet