MCID: HRM010
MIFTS: 22

Hermansky-Pudlak Syndrome 7 malady

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 7

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Hermansky-Pudlak Syndrome 7, Aliases & Descriptions:

Name: Hermansky-Pudlak Syndrome 7 45 10 20 60
Hermansky-Pudlak Syndrome Type 7 47 22
 
Hps7 47


Classifications:



External Ids:

OMIM45 614076
Orphanet47 231531
ICD10 via Orphanet26 E70.3

Summaries for Hermansky-Pudlak Syndrome 7

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MalaCards based summary: Hermansky-Pudlak Syndrome 7, also known as hermansky-pudlak syndrome type 7, 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:45 614076

Related Diseases for Hermansky-Pudlak Syndrome 7

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Diseases in the Hermansky-Pudlak Syndrome family:

Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 2
hermansky-pudlak syndrome 7 Hermansky-Pudlak Syndrome 1
Hermansky-Pudlak Syndrome 6 Hermansky-Pudlak Syndrome 5
Hermansky-Pudlak Syndrome 9 Hermansky-Pudlak Syndrome 8
Hermansky-Pudlak Syndrome 4

Diseases related to Hermansky-Pudlak Syndrome 7 via text searches within MalaCards or GeneCards Suite 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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Symptoms by clinical synopsis from OMIM:

614076

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 720 22 DTNBP1

Anatomical Context for Hermansky-Pudlak Syndrome 7

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

31
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:

6
id Gene Variation 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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet