MCID: HRM008
MIFTS: 33

Hermansky-Pudlak Syndrome 5 malady

Categories: Genetic diseases, Blood diseases, Rare diseases, Eye diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Hermansky-Pudlak Syndrome 5

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Aliases & Descriptions for Hermansky-Pudlak Syndrome 5:

Name: Hermansky-Pudlak Syndrome 5 49 10 11 22 67 24 65
Hps5 22 67
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 65
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 67
 
Platelet Storage Pool Deficiency 65
Delta Storage Pool Disease 67
Hps 5 22

Characteristics:

HPO:

61
hermansky-pudlak syndrome 5:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 614074
Disease Ontology10 DOID:0060543
MedGen34 CN068618
MeSH36 D022861
UMLS65 C3888004, C2931875

Summaries for Hermansky-Pudlak Syndrome 5

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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 isolated delta-storage pool disease and hermansky-pudlak syndrome 3, and has symptoms including bruising susceptibility, albinism and ocular albinism. An important gene associated with Hermansky-Pudlak Syndrome 5 is HPS5 (HPS5, Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2). Affiliated tissues include lung, eye and liver, and related mouse phenotypes are pigmentation and renal/urinary system.

Disease Ontology:10 A type of Hermansky-Pudlak syndrome caused by homozygous mutation in the HPS5 gene on chromosome 11p14.

Description from OMIM:49 614074

Related Diseases for Hermansky-Pudlak Syndrome 5

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



Diseases related to hermansky-pudlak syndrome 5

Symptoms for Hermansky-Pudlak Syndrome 5

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Clinical features from OMIM:

614074

HPO human phenotypes related to Hermansky-Pudlak Syndrome 5:

id Description Frequency HPO Source Accession
1 bruising susceptibility HP:0000978
2 albinism HP:0001022
3 ocular albinism HP:0001107
4 thrombocytopenia HP:0001873

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 5

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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

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Genetic tests related to Hermansky-Pudlak Syndrome 5:

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

Anatomical Context for Hermansky-Pudlak Syndrome 5

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

33
Lung, Eye, Liver, Skin

Animal Models for Hermansky-Pudlak Syndrome 5 or affiliated genes

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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 5:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3HPS5, HPS6
2MP:00053679.1HPS5, HPS6
3MP:00053779.1HPS5, HPS6
4MP:00053829.0HPS5, HPS6

Publications for Hermansky-Pudlak Syndrome 5

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Articles related to Hermansky-Pudlak Syndrome 5:

idTitleAuthorsYear
1
Low Incidence of Primary Biliary Cirrhosis (PBC) in First Degree Relatives of PBC Probands after 8 Years of Follow Up. (27062298)
2016
2
MECONIUM ILEUS. A 20-YEAR REVIEW OF 109 CASES. (14237408)
1965

Variations for Hermansky-Pudlak Syndrome 5

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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

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

Pathways for genes affiliated with Hermansky-Pudlak Syndrome 5

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GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 5

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

idNameGO IDScoreTop Affiliating Genes
1organelle organizationGO:00069969.1HPS5, HPS6
2blood coagulationGO:00075968.8HPS5, HPS6

Sources for Hermansky-Pudlak Syndrome 5

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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