MCID: HRM008
MIFTS: 35

Hermansky-Pudlak Syndrome 5 malady

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 5

About this section

Aliases & Descriptions for Hermansky-Pudlak Syndrome 5:

Name: Hermansky-Pudlak Syndrome 5 49 11 22 24 67
Hps5 22 67
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 67
 
Delta Storage Pool Disease 67
Hps 5 22


Classifications:



External Ids:

OMIM49 614074
MedGen34 CN068618
MeSH36 D022861

Summaries for Hermansky-Pudlak Syndrome 5

About this section
UniProtKB/Swiss-Prot:67 Hermansky-Pudlak syndrome 5: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.

MalaCards based summary: Hermansky-Pudlak Syndrome 5, also known as hps5, is related to hermansky-pudlak syndrome 6 and hermansky-pudlak syndrome 3, and has symptoms including autosomal recessive inheritance, bruising susceptibility and albinism. An important gene associated with Hermansky-Pudlak Syndrome 5 is HPS5 (Hermansky-Pudlak Syndrome 5). Affiliated tissues include lung, skin and eye, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Description from OMIM:49 614074

Related Diseases for Hermansky-Pudlak Syndrome 5

About this section

Graphical network of diseases related to Hermansky-Pudlak Syndrome 5:



Diseases related to hermansky-pudlak syndrome 5

Symptoms for Hermansky-Pudlak Syndrome 5

About this section


Clinical features from OMIM:

614074

HPO human phenotypes related to Hermansky-Pudlak Syndrome 5:

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 thrombocytopenia HP:0001873

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 5

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Medical Treatment of Colitis in Patients With Hermansky-Pudlak SyndromeWithdrawnNCT00514982Phase 2
2Study of Megakaryocytes From Patients With Abnormal Platelet VesiclesCompletedNCT00086476

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 5

Genetic Tests for Hermansky-Pudlak Syndrome 5

About this section

Genetic tests related to Hermansky-Pudlak Syndrome 5:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 522 24 HPS5

Anatomical Context for Hermansky-Pudlak Syndrome 5

About this section

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 5:

33
Lung, Skin, Eye

Animal Models for Hermansky-Pudlak Syndrome 5 or affiliated genes

About this section

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 5:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3HPS5, HPS6
2MP:00053779.3HPS5, HPS6

Publications for Hermansky-Pudlak Syndrome 5

About this section

Articles related to Hermansky-Pudlak Syndrome 5:

idTitleAuthorsYear
1
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). (17156100)
2007
2
The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene. (17632576)
2007

Variations for Hermansky-Pudlak Syndrome 5

About this section

UniProtKB/Swiss-Prot genetic disease variations for Hermansky-Pudlak Syndrome 5:

67
id Symbol AA change Variation ID SNP ID
1HPS5p.Leu624ArgVAR_062285
2HPS5p.Thr1098IleVAR_062286rs61884288

Clinvar genetic disease variations for Hermansky-Pudlak Syndrome 5:

5
id Gene Variation Type Significance SNP ID Assembly Location
1HPS5NM_181507.1(HPS5): c.1871T> G (p.Leu624Arg)single nucleotide variantPathogenicrs281865102GRCh37Chr 11, 18313558: 18313558
2HPS5NM_181507.1(HPS5): c.2593C> T (p.Arg865Ter)single nucleotide variantPathogenicrs281865104GRCh37Chr 11, 18309206: 18309206
3HPS5NM_181507.1(HPS5): c.2624delT (p.Leu875Cysfs)deletionPathogenicrs281865105GRCh37Chr 11, 18309175: 18309175
4HPS5NM_181507.1(HPS5): c.2928_2929dupGA (p.Thr977Argfs)duplicationPathogenicrs397507169GRCh37Chr 11, 18306915: 18306916
5HPS5NM_181507.1(HPS5): c.3293C> T (p.Thr1098Ile)single nucleotide variantPathogenicrs61884288GRCh37Chr 11, 18303533: 18303533
6HPS5NM_181507.1(HPS5): c.879dupC (p.Lys294Glnfs)duplicationPathogenicrs281865101GRCh37Chr 11, 18326986: 18326986
7HPS5NM_181507.1(HPS5): c.2025_2028delAGTT (p.Val676Metfs)deletionPathogenicrs281865103GRCh37Chr 11, 18313401: 18313404

Expression for genes affiliated with Hermansky-Pudlak Syndrome 5

About this section
Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 5.

Pathways for genes affiliated with Hermansky-Pudlak Syndrome 5

About this section

GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 5

About this section

Cellular components related to Hermansky-Pudlak Syndrome 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BLOC-2 complexGO:00310849.3HPS5, HPS6

Biological processes related to Hermansky-Pudlak Syndrome 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1pigmentationGO:00434739.6HPS5, HPS6
2organelle organizationGO:00069969.6HPS5, HPS6
3blood coagulationGO:00075969.3HPS5, HPS6

Sources for Hermansky-Pudlak Syndrome 5

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet