MCID: HRM006
MIFTS: 37

Hermansky-Pudlak Syndrome 3 malady

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

Summaries for Hermansky-Pudlak Syndrome 3

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MalaCards based summary: Hermansky-Pudlak Syndrome 3, also known as hermansky-pudlak syndrome without pulmonary fibrosis, is related to hermansky-pudlak syndrome and hermansky-pudlak syndrome 5, and has symptoms including Array An important gene associated with Hermansky-Pudlak Syndrome 3 is HPS3 (Hermansky-Pudlak syndrome 3). Affiliated tissues include eye and skin, and related mouse phenotypes are renal/urinary system and hearing/vestibular/ear.

Descriptions from OMIM:46 614072,614074,614075

Aliases & Classifications for Hermansky-Pudlak Syndrome 3

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Sources:
21GeneTests, 23GTR, 46OMIM, 48Orphanet, 27ICD10 via Orphanet
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Hermansky-Pudlak Syndrome 3, Aliases & Descriptions:

Name: Hermansky-Pudlak Syndrome 3 21 23 46
Hermansky-Pudlak Syndrome Without Pulmonary Fibrosis 48
 
Hps Without Pulmonary Fibrosis 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
hermansky-pudlak syndrome without pulmonary fibrosis:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet27 E70.3

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:

614072,614074,614075

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 321 23 HPS3

Anatomical Context for Hermansky-Pudlak Syndrome 3

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MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 3:

32
Eye, Skin

Animal Models for Hermansky-Pudlak Syndrome 3 or affiliated genes

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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 3:

36
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:

63
id Symbol AA change Variation ID SNP ID
1HPS3p.Arg397TrpVAR_013251

Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 3:

7 (show all 25)
id Gene Name 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
3HPS5NM_181507.1(HPS5): c.1871T> G (p.Leu624Arg)single nucleotide variantPathogenicrs281865102GRCh37Chr 11, 18313558: 18313558
4HPS5NM_181507.1(HPS5): c.2593C> T (p.Arg865Ter)single nucleotide variantPathogenicrs281865104GRCh37Chr 11, 18309206: 18309206
5HPS5NM_181507.1(HPS5): c.2624delT (p.Leu875Cysfs)deletionPathogenicrs281865105GRCh37Chr 11, 18309175: 18309175
6HPS5NM_181507.1(HPS5): c.2928_2929dupGA (p.Thr977Argfs)duplicationPathogenicrs397507169GRCh37Chr 11, 18306914: 18306915
7HPS5NM_181507.1(HPS5): c.3293C> T (p.Thr1098Ile)single nucleotide variantPathogenicrs61884288GRCh37Chr 11, 18303533: 18303533
8HPS5NM_181507.1(HPS5): c.879dupC (p.Lys294Glnfs)duplicationPathogenicrs281865101GRCh37Chr 11, 18326985: 18326986
9HPS6HPS6, 1-BP INS, 1066GinsertionPathogenic
10HPS6HPS6, 2-BP DEL, 1865TGdeletionPathogenic
11HPS6NM_024747.5(HPS6): c.913C> T (p.Gln305Ter)single nucleotide variantPathogenicrs281865110GRCh37Chr 10, 103826144: 103826144
12HPS6HPS6, 1-BP DUP, 238GduplicationPathogenic
13HPS6NM_024747.5(HPS6): c.815C> T (p.Thr272Ile)single nucleotide variantPathogenicrs281865109GRCh37Chr 10, 103826046: 103826046
14HPS6NM_024747.5(HPS6): c.223C> T (p.Gln75Ter)single nucleotide variantPathogenicrs281865107GRCh37Chr 10, 103825454: 103825454
15HPS6NM_024747.5(HPS6): c.1234C> T (p.Gln412Ter)single nucleotide variantPathogenicrs281865112GRCh37Chr 10, 103826465: 103826465
16HPS6NM_024747.5(HPS6): c.1713_1716delTCTG (p.Leu572Alafs)deletionPathogenicrs281865113GRCh37Chr 10, 103826944: 103826947
17HPS5NM_181507.1(HPS5): c.2025_2028delAGTT (p.Val676Metfs)deletionPathogenicrs281865103GRCh37Chr 11, 18313401: 18313404
18NC_000005.10: g.104486890_104506841del19952deletionPathogenicGRCh37Chr 5, 103822591: 103842542
19HPS3HPS3, 3904-BP DELdeletionPathogenic
20HPS3NM_032383.3(HPS3): c.1163+1G> Asingle nucleotide variantPathogenicrs201227603GRCh37Chr 3, 148863334: 148863334
21HPS3NM_032383.3(HPS3): c.1691+2T> Gsingle nucleotide variantPathogenicrs281865093GRCh37Chr 3, 148875320: 148875320
22HPS3HPS3, 2621-2A-Gsingle nucleotide variantPathogenic
23NM_032383.3(HPS3): c.2589+1G> Csingle nucleotide variantPathogenicrs281865095GRCh37Chr 3, 148881737: 148881737
24HPS3NM_032383.3(HPS3): c.1189C> T (p.Arg397Trp)single nucleotide variantPathogenicrs121908316GRCh37Chr 3, 148868411: 148868411
25HPS3HPS3, 89-BP INSinsertionPathogenic

Expression for genes affiliated with Hermansky-Pudlak Syndrome 3

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Expression patterns in normal tissues for genes affiliated with Hermansky-Pudlak Syndrome 3

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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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BLOC-2 complexGO:0310848.5HPS6, HPS5, HPS3

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

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

Products for genes affiliated with Hermansky-Pudlak Syndrome 3

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Sources for Hermansky-Pudlak Syndrome 3

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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