MCID: HRM006
MIFTS: 29

Hermansky-Pudlak Syndrome 3 malady

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

Summaries for Hermansky-Pudlak Syndrome 3

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MalaCards based summary: Hermansky-Pudlak Syndrome 3 is related to hermansky-pudlak syndrome and cervical squamous cell carcinoma, and has symptoms including autosomal recessive inheritance, visual impairment and nystagmus. An important gene associated with Hermansky-Pudlak Syndrome 3 is HPS3 (Hermansky-Pudlak syndrome 3). Related mouse phenotypes are renal/urinary system and hearing/vestibular/ear.

Description from OMIM:45 614072

Aliases & Classifications for Hermansky-Pudlak Syndrome 3

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Hermansky-Pudlak Syndrome 3, Aliases & Descriptions:

Name: Hermansky-Pudlak Syndrome 3 45 10 20 22


Classifications:



External Ids:

OMIM45 614072

Related Diseases for Hermansky-Pudlak Syndrome 3

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



Diseases related to hermansky-pudlak syndrome 3

Symptoms for Hermansky-Pudlak Syndrome 3

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Clinical features from OMIM:

614072

HPO human phenotypes related to Hermansky-Pudlak Syndrome 3:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 visual impairment HP:0000505
3 nystagmus HP:0000639
4 abnormal bleeding HP:0001892
5 abnormal platelet granules HP:0011883

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 3

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Drug clinical trials:

Search ClinicalTrials for Hermansky-Pudlak Syndrome 3

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 3

Genetic Tests for Hermansky-Pudlak Syndrome 3

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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

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Animal Models for Hermansky-Pudlak Syndrome 3 or affiliated genes

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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 3:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.1HPS6, HPS5
2MP:00053779.0HPS5, HPS6
3MP:00053828.8HPS6, HPS5
4MP:00011868.7HPS6, HPS5, HPS3
5MP:00053918.7HPS6, HPS5, HPS3
6MP:00107718.7HPS3, HPS5, HPS6
7MP:00053978.6HPS6, HPS5, HPS3
8MP:00053878.6HPS3, HPS5, HPS6
9MP:00053768.5HPS6, HPS5, HPS3

Publications for Hermansky-Pudlak Syndrome 3

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Articles related to Hermansky-Pudlak Syndrome 3:

idTitleAuthorsYear
1
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). (14718540)
2004

Variations for Hermansky-Pudlak Syndrome 3

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UniProtKB/Swiss-Prot genetic disease variations for Hermansky-Pudlak Syndrome 3:

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

Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1NM_032383.3(HPS3): c.2888-1612G> Asingle nucleotide variantPathogenicrs281865096GRCh37Chr 3, 148888270: 148888270
2NM_032383.3(HPS3): c.2482-2A> Gsingle nucleotide variantPathogenicrs397507168GRCh37Chr 3, 148881627: 148881627
3HPS3HPS3, 3904-BP DELdeletionPathogenic
4HPS3NM_032383.3(HPS3): c.1163+1G> Asingle nucleotide variantPathogenicrs201227603GRCh37Chr 3, 148863334: 148863334
5HPS3NM_032383.3(HPS3): c.1691+2T> Gsingle nucleotide variantPathogenicrs281865093GRCh37Chr 3, 148875320: 148875320
6HPS3HPS3, 2621-2A-Gsingle nucleotide variantPathogenic
7NM_032383.3(HPS3): c.2589+1G> Csingle nucleotide variantPathogenicrs281865095GRCh37Chr 3, 148881737: 148881737
8HPS3NM_032383.3(HPS3): c.1189C> T (p.Arg397Trp)single nucleotide variantPathogenicrs121908316GRCh37Chr 3, 148868411: 148868411
9HPS3HPS3, 89-BP INSinsertionPathogenic

Expression for genes affiliated with Hermansky-Pudlak Syndrome 3

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

Pathways for genes affiliated with Hermansky-Pudlak Syndrome 3

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Compounds for genes affiliated with Hermansky-Pudlak Syndrome 3

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GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 3

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Cellular components related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BLOC-2 complexGO:00310848.5HPS6, HPS5, HPS3

Biological processes related to Hermansky-Pudlak Syndrome 3 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:00075969.1HPS6, HPS5
2pigmentationGO:00434739.0HPS5, HPS3
3organelle organizationGO:00069968.4HPS6, HPS5, HPS3

Products for genes affiliated with Hermansky-Pudlak Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hermansky-Pudlak Syndrome 3

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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