HPS5
MCID: HRM008
MIFTS: 40

Hermansky-Pudlak Syndrome 5 (HPS5) malady

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 5

Aliases & Descriptions for Hermansky-Pudlak Syndrome 5:

Name: Hermansky-Pudlak Syndrome 5 54 12 24 66 29 13 14 69
Hps5 24 66
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 69
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 66
Platelet Storage Pool Deficiency 69
Delta Storage Pool Disease 66
Hps 5 24

Characteristics:

HPO:

32
hermansky-pudlak syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 614074
Disease Ontology 12 DOID:0060543
MedGen 40 CN068618
MeSH 42 D022861

Summaries for Hermansky-Pudlak Syndrome 5

UniProtKB/Swiss-Prot : 66 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 2, and has symptoms including thrombocytopenia, bruising susceptibility 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/superpathways are Pyruvate metabolism and Propanoate metabolism. Affiliated tissues include lung, and related phenotypes are homeostasis/metabolism and integument

Disease Ontology : 12 A type of Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the HPS5 gene on chromosome 11p14.

Description from OMIM: 614074

Related Diseases for Hermansky-Pudlak Syndrome 5

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 5:



Diseases related to Hermansky-Pudlak Syndrome 5

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 5

Clinical features from OMIM:

614074

Human phenotypes related to Hermansky-Pudlak Syndrome 5:

32
id Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 bruising susceptibility 32 HP:0000978
3 ocular albinism 32 HP:0001107
4 albinism 32 HP:0001022

UMLS symptoms related to Hermansky-Pudlak Syndrome 5:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 5:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 BACE1 HNF1B HPS5 HPS6 LDHA LEPR
2 integument MP:0010771 9.73 BACE1 HPS5 HPS6 LEPR RAB38 VPS33A
3 no phenotypic analysis MP:0003012 9.55 RAB38 BACE1 HPS5 LDHC LEPR
4 pigmentation MP:0001186 9.26 HPS5 HPS6 RAB38 VPS33A
5 renal/urinary system MP:0005367 9.02 HNF1B HPS5 HPS6 LEPR VPS33A

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 5

Interventional clinical trials:


id Name Status NCT ID Phase
1 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2
2 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 5

Genetic Tests for Hermansky-Pudlak Syndrome 5

Genetic tests related to Hermansky-Pudlak Syndrome 5:

id Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 5 29 24 HPS5

Anatomical Context for Hermansky-Pudlak Syndrome 5

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

39
Lung

Publications for Hermansky-Pudlak Syndrome 5

Articles related to Hermansky-Pudlak Syndrome 5:

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

Variations for Hermansky-Pudlak Syndrome 5

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

66
id Symbol AA change Variation ID SNP ID
1 HPS5 p.Leu624Arg VAR_062285 rs281865102
2 HPS5 p.Thr1098Ile VAR_062286 rs61884288

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 5:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 HPS5 NM_181507.1(HPS5): c.2025_2028delAGTT (p.Val676Metfs) deletion Pathogenic rs281865103 GRCh37 Chromosome 11, 18313401: 18313404
2 HPS5 NM_181507.1(HPS5): c.1871T> G (p.Leu624Arg) single nucleotide variant Pathogenic rs281865102 GRCh37 Chromosome 11, 18313558: 18313558
3 HPS5 NM_181507.1(HPS5): c.2593C> T (p.Arg865Ter) single nucleotide variant Pathogenic rs281865104 GRCh37 Chromosome 11, 18309206: 18309206
4 HPS5 NM_181507.1(HPS5): c.2624delT (p.Leu875Cysfs) deletion Pathogenic rs281865105 GRCh37 Chromosome 11, 18309175: 18309175
5 HPS5 NM_181507.1(HPS5): c.2928_2929dupGA (p.Thr977Argfs) duplication Pathogenic rs397507169 GRCh37 Chromosome 11, 18306915: 18306916
6 HPS5 NM_181507.1(HPS5): c.879dupC (p.Lys294Glnfs) duplication Pathogenic rs281865101 GRCh37 Chromosome 11, 18326986: 18326986

Expression for Hermansky-Pudlak Syndrome 5

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

Pathways for Hermansky-Pudlak Syndrome 5

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
10.78 LDHA LDHC
2 10.46 LDHA LDHC
3
Show member pathways
9.7 LDHA LDHC

GO Terms for Hermansky-Pudlak Syndrome 5

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

id Name GO ID Score Top Affiliating Genes
1 BLOC-2 complex GO:0031084 8.62 HPS5 HPS6

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

id Name GO ID Score Top Affiliating Genes
1 pigmentation GO:0043473 9.37 HPS5 HPS6
2 pyruvate metabolic process GO:0006090 9.32 LDHA LDHC
3 carboxylic acid metabolic process GO:0019752 9.26 LDHA LDHC
4 lysosome localization GO:0032418 9.16 HPS6 VPS33A
5 protein localization to membrane GO:0072657 8.96 HPS6 RAB38
6 organelle organization GO:0006996 8.8 HPS5 HPS6 RAB38

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor GO:0016616 9.16 LDHA LDHC
2 GTP-dependent protein binding GO:0030742 8.96 HPS6 RAB38
3 L-lactate dehydrogenase activity GO:0004459 8.62 LDHA LDHC

Sources for Hermansky-Pudlak Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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