MCID: HRM006
MIFTS: 25

Hermansky-Pudlak Syndrome 3 malady

Summaries for Hermansky-Pudlak Syndrome 3

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Hermansky-Pudlak Syndrome 3, also known as hantavirus infections, is related to hermansky-pudlak syndrome and hermansky-pudlak syndrome 5. An important gene associated with Hermansky-Pudlak Syndrome 3 is HPS3 (Hermansky-Pudlak syndrome 3). Related mouse phenotypes are hearing/vestibular/ear and pigmentation.

Description from OMIM:46 614072

Aliases & Classifications for Hermansky-Pudlak Syndrome 3

About this section
Sources:
20GeneTests, 22GTR, 46OMIM, 60UMLS
See all sources

Aliases & Descriptions:

hermansky-pudlak syndrome 3 20 22 46
hantavirus infections 60


Related Diseases for Hermansky-Pudlak Syndrome 3

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 3:



Diseases related to hermansky-pudlak syndrome 3

Clinical Features for Hermansky-Pudlak Syndrome 3

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

614072

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 3

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hermansky-Pudlak Syndrome 3

Drug clinical trials:

Search ClinicalTrials for Hermansky-Pudlak Syndrome 3

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 3

Search CenterWatch for Hermansky-Pudlak Syndrome 3

Genetic Tests for Hermansky-Pudlak Syndrome 3

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hermansky-Pudlak Syndrome 3:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 320 22 HPS3

Anatomical Context for Hermansky-Pudlak Syndrome 3

About this section

Animal Models for Hermansky-Pudlak Syndrome 3 or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 3:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8HPS5, HPS6
2MP:00011868.7HPS6, HPS5, HPS3
3MP:00053918.6HPS6, HPS5, HPS3
4MP:00107718.6HPS6, HPS5, HPS3
5MP:00053978.5HPS3, HPS6, HPS5
6MP:00053768.5HPS3, HPS5, HPS6
7MP:00053878.4HPS5, HPS6, HPS3

Publications for Hermansky-Pudlak Syndrome 3

About this section

Genetic Variations for Hermansky-Pudlak Syndrome 3

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hermansky-Pudlak Syndrome 3:

62
id Symbol AA change Variation ID SNP ID
1HPS3p.Arg397TrpVAR_013251

Expression for genes affiliated with Hermansky-Pudlak Syndrome 3

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hermansky-Pudlak Syndrome 3

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 3.

Pathways for genes affiliated with Hermansky-Pudlak Syndrome 3

About this section

Compounds for genes affiliated with Hermansky-Pudlak Syndrome 3

About this section

GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 3

About this section
Sources:
16Gene Ontology
See all sources

Biological processes related to Hermansky-Pudlak Syndrome 3 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.1HPS5, HPS6
2pigmentationGO:0434739.0HPS3, HPS5
3organelle organizationGO:0069968.4HPS3, HPS5, HPS6

Products for genes affiliated with Hermansky-Pudlak Syndrome 3

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hermansky-Pudlak Syndrome 3

About this section
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