MCID: HRM008
MIFTS: 40

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 51 11 24 69 26 12 13 67
Hps5 24 69
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 67
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 69
 
Platelet Storage Pool Deficiency 67
Delta Storage Pool Disease 69
Hps 5 24

Characteristics:

HPO:

63
hermansky-pudlak syndrome 5:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 614074
Disease Ontology11 DOID:0060543
MedGen36 CN068618
MeSH38 D022861

Summaries for Hermansky-Pudlak Syndrome 5

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UniProtKB/Swiss-Prot:69 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), and among its related pathways are Pyruvate metabolism and Propanoate metabolism. Affiliated tissues include lung, and related mouse phenotypes are pigmentation and renal/urinary system.

Disease Ontology:11 A type of Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the HPS5 gene on chromosome 11p14.

Description from OMIM:51 614074

Related Diseases for Hermansky-Pudlak Syndrome 5

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Graphical network of the top 20 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

Human phenotypes related to Hermansky-Pudlak Syndrome 5:

 63
id Description HPO Frequency HPO Source Accession
1 bruising susceptibility63 HP:0000978
2 albinism63 HP:0001022
3 ocular albinism63 HP:0001107
4 thrombocytopenia63 HP:0001873

UMLS symptoms related to Hermansky-Pudlak Syndrome 5:


abdominal pain

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 526 24 HPS5

Anatomical Context for Hermansky-Pudlak Syndrome 5

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

35
Lung

Animal Models for Hermansky-Pudlak Syndrome 5 or affiliated genes

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MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 5:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5HPS5, HPS6, RAB38, VPS33A
2MP:00053679.2HNF1B, HPS5, HPS6, LEPR, VPS33A
3MP:00030128.6BACE1, HPS5, LDHC, LEPR, RAB38
4MP:00107718.6BACE1, HPS5, HPS6, LEPR, RAB38, VPS33A
5MP:00053918.3HPS5, HPS6, LEPR, RAB38, VPS33A
6MP:00053767.4BACE1, HNF1B, HPS5, HPS6, LDHA, LEPR

Publications for Hermansky-Pudlak Syndrome 5

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Articles related to Hermansky-Pudlak Syndrome 5:

idTitleAuthorsYear
1
Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. (27333462)
2016
2
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). (17156100)
2007
3
The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene. (17632576)
2007

Variations for Hermansky-Pudlak Syndrome 5

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

69
id Symbol AA change Variation ID SNP ID
1HPS5p.Leu624ArgVAR_062285rs281865102
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)SNVPathogenicrs281865102GRCh37Chr 11, 18313558: 18313558
2HPS5NM_181507.1(HPS5): c.2593C> T (p.Arg865Ter)SNVPathogenicrs281865104GRCh37Chr 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.879dupC (p.Lys294Glnfs)duplicationPathogenicrs281865101GRCh37Chr 11, 18326986: 18326986
6HPS5NM_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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Pathways related to Hermansky-Pudlak Syndrome 5 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3LDHA, LDHC
29.3LDHA, LDHC
3
Show member pathways
9.3LDHA, LDHC

GO Terms for genes affiliated with Hermansky-Pudlak Syndrome 5

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

idNameGO IDScoreTop Affiliating Genes
1BLOC-2 complexGO:00310849.9HPS5, HPS6

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

idNameGO IDScoreTop Affiliating Genes
1pigmentationGO:00434739.9HPS5, HPS6
2protein localization to membraneGO:00726579.7HPS6, RAB38
3organelle organizationGO:00069969.5HPS5, HPS6, RAB38
4pyruvate metabolic processGO:00060909.0LDHA, LDHC

Molecular functions related to Hermansky-Pudlak Syndrome 5 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GTP-dependent protein bindingGO:00307429.7HPS6, RAB38
2L-lactate dehydrogenase activityGO:00044599.6LDHA, LDHC

Sources for Hermansky-Pudlak Syndrome 5

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet