HPS5
MCID: HRM008
MIFTS: 46

Hermansky-Pudlak Syndrome 5 (HPS5)

Categories: Blood diseases, Eye diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Hermansky-Pudlak Syndrome 5

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 5:

Name: Hermansky-Pudlak Syndrome 5 57 12 72 29 13 6 15 70
Hps5 57 72
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 70
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 72
Hermansky-Pudlak Syndrome, Type 5 39
Platelet Storage Pool Deficiency 70
Delta Storage Pool Disease 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
patients do not exhibit granulomatous colitis or pulmonary fibrosis


HPO:

31
hermansky-pudlak syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060543
OMIM® 57 614074
OMIM Phenotypic Series 57 PS203300
MeSH 44 D022861
UMLS 70 C0032197 C2931875 C3888004

Summaries for Hermansky-Pudlak Syndrome 5

OMIM® : 57 Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients (Ringeisen et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (203300). (614074) (Updated 20-May-2021)

MalaCards based summary : Hermansky-Pudlak Syndrome 5, also known as hps5, is related to hermansky-pudlak syndrome 1 and hermansky-pudlak syndrome 6, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 5 is HPS5 (HPS5 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2). The drugs Pirfenidone and Losartan have been mentioned in the context of this disorder. Affiliated tissues include eye and bone marrow, and related phenotypes are strabismus and thrombocytopenia

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

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Hermansky-Pudlak Syndrome 5

Diseases in the Hermansky-Pudlak Syndrome family:

Hermansky-Pudlak Syndrome 1 Hermansky-Pudlak Syndrome 2
Hermansky-Pudlak Syndrome 3 Hermansky-Pudlak Syndrome 4
Hermansky-Pudlak Syndrome 5 Hermansky-Pudlak Syndrome 6
Hermansky-Pudlak Syndrome 7 Hermansky-Pudlak Syndrome 8
Hermansky-Pudlak Syndrome 9 Hermansky-Pudlak Syndrome 10
Hermansky-Pudlak Syndrome 11

Diseases related to Hermansky-Pudlak Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 1 32.2 HPS6 HPS5
2 hermansky-pudlak syndrome 6 32.1 HPS6 HPS5
3 hermansky-pudlak syndrome 3 32.1 HPS6 HPS5
4 albinism, oculocutaneous, type ii 31.4 HPS6 HPS5
5 albinism, oculocutaneous, type iv 31.3 HPS6 HPS5
6 griscelli syndrome, type 1 31.3 HPS6 HPS5
7 ocular albinism 31.1 HPS6 HPS5
8 storage pool platelet disease 31.0 HPS6 HPS5 BLOC1S1
9 exotropia 31.0 HPS6 HPS5 BLOC1S1
10 albinism, oculocutaneous, type iii 31.0 HPS6 HPS5 BLOC1S1
11 hermansky-pudlak syndrome without pulmonary fibrosis 30.0 HPS6 HPS5
12 hermansky-pudlak syndrome 30.0 HPS6 HPS5 BLOC1S4 BLOC1S1
13 oculocutaneous albinism 29.9 HPS6 HPS5
14 hermansky-pudlak syndrome 2 11.4
15 hermansky-pudlak syndrome 4 11.4
16 hermansky-pudlak syndrome 7 11.4
17 hermansky-pudlak syndrome 8 11.4
18 hermansky-pudlak syndrome 9 11.4
19 isolated delta-storage pool disease 11.4
20 pulmonary fibrosis 11.1
21 von willebrand's disease 10.2
22 blood platelet disease 10.2
23 congenital nystagmus 10.2
24 pathologic nystagmus 10.2
25 colitis 10.2
26 acute contagious conjunctivitis 10.2
27 diarrhea 10.2
28 albinism 10.2
29 factor viii deficiency 10.1
30 glanzmann thrombasthenia 1 10.1
31 hemophilia a 10.1
32 menkes disease 10.1
33 ehlers-danlos syndrome 10.1
34 thrombocytopenia 10.1
35 hemophilia 10.1
36 thrombasthenia 10.1
37 shaken baby syndrome 10.1
38 autosomal recessive disease 9.9

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

Human phenotypes related to Hermansky-Pudlak Syndrome 5:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 strabismus 31 HP:0000486
2 thrombocytopenia 31 HP:0001873
3 reduced visual acuity 31 HP:0007663
4 epistaxis 31 HP:0000421
5 bruising susceptibility 31 HP:0000978
6 prolonged bleeding time 31 HP:0003010
7 ocular albinism 31 HP:0001107
8 hypoplasia of the fovea 31 HP:0007750
9 horizontal nystagmus 31 HP:0000666
10 albinism 31 HP:0001022
11 menorrhagia 31 HP:0000132

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
strabismus
reduced visual acuity
ocular albinism
horizontal nystagmus
iris transillumination
more
Genitourinary Internal Genitalia Female:
menorrhagia

Hematology:
bleeding tendency
absence of platelet dense bodies
reduced platelet count, moderate
prolonged bleeding time, moderate

Laboratory Abnormalities:
elevated cholesterol (in some patients)
elevated triglycerides (in some patients)

Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruising
fair skin relative to unaffected family members

Skin Nails Hair Hair:
fair hair relative to unaffected family members

Clinical features from OMIM®:

614074 (Updated 20-May-2021)

UMLS symptoms related to Hermansky-Pudlak Syndrome 5:


abdominal pain

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between BLM-/- and BLM+/+ GR00255-A-1 8.8 BLOC1S1 GTF2H1 HPS5

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 BLOC1S1 BLOC1S4 HPS5 HPS6

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 5

Drugs for Hermansky-Pudlak Syndrome 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
2
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
3
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
4
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
5
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
6
Zileuton Approved, Investigational, Withdrawn Phase 1, Phase 2 111406-87-2 60490
7
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560
8 Antirheumatic Agents Phase 1, Phase 2
9 Anti-Inflammatory Agents Phase 1, Phase 2
10 Analgesics Phase 1, Phase 2
11 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
12 Analgesics, Non-Narcotic Phase 1, Phase 2
13 Lipid Regulating Agents Phase 1, Phase 2
14 Anti-Infective Agents Phase 1, Phase 2
15 Anticholesteremic Agents Phase 1, Phase 2
16 Anti-Arrhythmia Agents Phase 1, Phase 2
17 Antimetabolites Phase 1, Phase 2
18 Antidotes Phase 1, Phase 2
19 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
20 Respiratory System Agents Phase 1, Phase 2
21 Erythromycin Ethylsuccinate Phase 1, Phase 2
22 Antioxidants Phase 1, Phase 2
23 Gastrointestinal Agents Phase 1, Phase 2
24 Erythromycin stearate Phase 1, Phase 2
25 Erythromycin Estolate Phase 1, Phase 2
26 Hormones Phase 1, Phase 2
27 Hormone Antagonists Phase 1, Phase 2
28 Giapreza Phase 1, Phase 2
29 Angiotensinogen Phase 1, Phase 2
30 Protective Agents Phase 1, Phase 2
31 Pharmaceutical Solutions Phase 1, Phase 2
32 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
33 Expectorants Phase 1, Phase 2
34 Angiotensin Receptor Antagonists Phase 1, Phase 2
35 Anti-Bacterial Agents Phase 1, Phase 2
36 Antihypertensive Agents Phase 1, Phase 2
37 Hypolipidemic Agents Phase 1, Phase 2
38 Antiviral Agents Phase 1, Phase 2
39 N-monoacetylcystine Phase 1, Phase 2
40 Leukotriene Antagonists Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Clinical Trial of Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
2 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 5

Genetic Tests for Hermansky-Pudlak Syndrome 5

Genetic tests related to Hermansky-Pudlak Syndrome 5:

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

Anatomical Context for Hermansky-Pudlak Syndrome 5

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

40
Eye, Bone Marrow

Publications for Hermansky-Pudlak Syndrome 5

Articles related to Hermansky-Pudlak Syndrome 5:

(show all 41)
# Title Authors PMID Year
1
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. 61 57 6
28296950 2017
2
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. 57 6 61
23607980 2013
3
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. 57 6 61
15296495 2004
4
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. 57 6
12548288 2003
5
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. 6 61
28640947 2017
6
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. 6 61
24698632 2014
7
A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules. 61
33513603 2021
8
Current landscape of Oculocutaneous Albinism in Japan. 61
32969595 2021
9
Mendelian randomization analysis identified genes pleiotropically associated with the risk and prognosis of COVID-19. 61
33259846 2021
10
Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene. 61
32558164 2020
11
Mendelian randomization analysis identified genes pleiotropically associated with the risk and prognosis of COVID-19. 61
32909000 2020
12
Effect of cAMP Receptor Protein Gene on Growth Characteristics and Stress Resistance of Haemophilus parasuis Serovar 5. 61
32158699 2020
13
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. 61
31619213 2019
14
Haemophilus parasuis infection in 3D4/21 cells induces autophagy through the AMPK pathway. 61
30977277 2019
15
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. 61
30387913 2019
16
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. 61
28976636 2018
17
Investigating the Molecular Mechanism of Aqueous Extract of Cyclocarya paliurus on Ameliorating Diabetes by Transcriptome Profiling. 61
30140229 2018
18
Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype. 61
29090612 2018
19
Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. 61
28739598 2017
20
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. 61
27593200 2016
21
Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. 61
27333462 2016
22
The Molecular Mechanism of Ethylene-Mediated Root Hair Development Induced by Phosphate Starvation. 61
27427911 2016
23
Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders. 61
26806224 2016
24
Autophagy Is Associated with Pathogenesis of Haemophilus parasuis. 61
27703447 2016
25
snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5. 61
23893484 2013
26
The mouse ruby-eye 2(d) (ru2(d) /Hps5(ru2-d) ) allele inhibits eumelanin but not pheomelanin synthesis. 61
23672590 2013
27
A homolog of the human Hermansky-Pudluck syndrome-5 (HPS5) gene is responsible for the oa larval translucent mutants in the silkworm, Bombyx mori. 61
23250771 2012
28
A new mutation of mouse ruby-eye 2, ru2(d)/Hps5(ru2-d) inhibits eumelanin synthesis but stimulates pheomelanin synthesis in melanocytes. 61
23030338 2012
29
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. 61
21833017 2011
30
A novel deletion mutation of mouse ruby-eye 2 named ru2(d)/Hps5(ru2-d) inhibits melanocyte differentiation and its impaired differentiation is rescued by L-tyrosine. 61
22035301 2011
31
Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A. 61
21124955 2010
32
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting. 61
19523149 2009
33
Bone marrow ectopic expression of a non-coding RNA in childhood T-cell acute lymphoblastic leukemia with a novel t(2;11)(q11.2;p15.1) translocation. 61
18947387 2008
34
Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. 61
17301833 2007
35
The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene. 61
17632576 2007
36
The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). 61
17156100 2007
37
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. 61
15265785 2004
38
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. 61
15108212 2004
39
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. 61
15030569 2004
40
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). 61
14718540 2004
41
Hermansky-Pudlak Syndrome 61
20301464 2000

Variations for Hermansky-Pudlak Syndrome 5

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 5:

6 (show top 50) (show all 122)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HPS5 NM_007216.4(HPS5):c.1684_1687del (p.Val562fs) Deletion Pathogenic 3152 rs281865103 GRCh37: 11:18313400-18313403
GRCh38: 11:18291853-18291856
2 HPS5 NM_181507.1(HPS5):c.1871T>G (p.Leu624Arg) SNV Pathogenic 21817 rs281865102 GRCh37: 11:18313558-18313558
GRCh38: 11:18292011-18292011
3 HPS5 NM_007216.4(HPS5):c.537dup (p.Lys180fs) Duplication Pathogenic 21822 rs281865101 GRCh37: 11:18326985-18326986
GRCh38: 11:18305438-18305439
4 HPS5 NM_007216.4(HPS5):c.2586_2587dup (p.Thr863fs) Duplication Pathogenic 21820 rs397507169 GRCh37: 11:18306914-18306915
GRCh38: 11:18285367-18285368
5 HPS5 NM_007216.4(HPS5):c.2282del (p.Leu761fs) Deletion Pathogenic 21819 rs281865105 GRCh37: 11:18309175-18309175
GRCh38: 11:18287628-18287628
6 HPS5 NM_181507.1(HPS5):c.2593C>T (p.Arg865Ter) SNV Pathogenic 21818 rs281865104 GRCh37: 11:18309206-18309206
GRCh38: 11:18287659-18287659
7 HPS5 NM_181507.1(HPS5):c.3058+3A>G SNV Pathogenic 427882 rs113304476 GRCh37: 11:18305339-18305339
GRCh38: 11:18283792-18283792
8 HPS5 11p15.1 deletion Deletion Pathogenic 427885 GRCh37:
GRCh38:
9 HPS5 NM_181507.1(HPS5):c.2219T>C (p.Leu740Ser) SNV Pathogenic 427880 rs1131692149 GRCh37: 11:18313210-18313210
GRCh38: 11:18291663-18291663
10 HPS5 NM_007216.4(HPS5):c.2406_2407AG[1] (p.Glu803fs) Microsatellite Pathogenic 427883 rs1131692151 GRCh37: 11:18308224-18308225
GRCh38: 11:18286677-18286678
11 HPS5 NM_007216.4(HPS5):c.476_480del (p.Thr159fs) Deletion Pathogenic 427878 rs1131692147 GRCh37: 11:18327684-18327688
GRCh38: 11:18306137-18306141
12 HPS5 NM_007216.4(HPS5):c.1558del (p.Glu520fs) Deletion Pathogenic 427876 rs1131692146 GRCh37: 11:18313529-18313529
GRCh38: 11:18291982-18291982
13 HPS5 NM_181507.1(HPS5):c.1417C>T (p.Gln473Ter) SNV Pathogenic 427879 rs1131692148 GRCh37: 11:18318438-18318438
GRCh38: 11:18296891-18296891
14 HPS5 NM_181507.1(HPS5):c.219G>A (p.Arg73=) SNV Pathogenic 427881 rs1131692150 GRCh37: 11:18333461-18333461
GRCh38: 11:18311914-18311914
15 HPS5 NM_181507.1(HPS5):c.719G>C (p.Arg240Pro) SNV Pathogenic 427884 rs764296457 GRCh37: 11:18327787-18327787
GRCh38: 11:18306240-18306240
16 HPS5 NM_007216.4(HPS5):c.2754_2756del (p.Leu919del) Deletion Pathogenic 427877 rs753928208 GRCh37: 11:18303728-18303730
GRCh38: 11:18282181-18282183
17 HPS5 NM_007216.4(HPS5):c.2637_2640del (p.Cys879fs) Deletion Pathogenic 280536 rs886041723 GRCh37: 11:18305418-18305421
GRCh38: 11:18283871-18283874
18 HPS5 NM_181507.1(HPS5):c.107del (p.Lys36fs) Deletion Pathogenic 435459 rs1554948134 GRCh37: 11:18339299-18339299
GRCh38: 11:18317752-18317752
19 HPS5 NM_181507.2(HPS5):c.345G>A (p.Met115Ile) SNV Conflicting interpretations of pathogenicity 197894 rs149229493 GRCh37: 11:18332420-18332420
GRCh38: 11:18310873-18310873
20 HPS5 NM_181507.1(HPS5):c.3297C>T (p.Cys1099=) SNV Uncertain significance 303865 rs139039126 GRCh37: 11:18303529-18303529
GRCh38: 11:18281982-18281982
21 HPS5 NM_181507.1(HPS5):c.-64A>G SNV Uncertain significance 303900 rs886048084 GRCh37: 11:18343507-18343507
GRCh38: 11:18321960-18321960
22 HPS5 NM_181507.1(HPS5):c.*1023T>G SNV Uncertain significance 303848 rs886048069 GRCh37: 11:18300406-18300406
GRCh38: 11:18278859-18278859
23 HPS5 NM_181507.1(HPS5):c.1549A>C (p.Lys517Gln) SNV Uncertain significance 303886 rs770838422 GRCh37: 11:18317631-18317631
GRCh38: 11:18296084-18296084
24 HPS5 NM_181507.1(HPS5):c.2838-13T>C SNV Uncertain significance 303871 rs377293025 GRCh37: 11:18307019-18307019
GRCh38: 11:18285472-18285472
25 HPS5 NM_181507.1(HPS5):c.-197C>T SNV Uncertain significance 303903 rs886048085 GRCh37: 11:18343640-18343640
GRCh38: 11:18322093-18322093
26 HPS5 NM_181507.1(HPS5):c.*956T>G SNV Uncertain significance 303851 rs886048072 GRCh37: 11:18300473-18300473
GRCh38: 11:18278926-18278926
27 HPS5 NM_181507.1(HPS5):c.1496C>T (p.Ser499Leu) SNV Uncertain significance 303889 rs756408229 GRCh37: 11:18318359-18318359
GRCh38: 11:18296812-18296812
28 HPS5 NM_181507.1(HPS5):c.2521G>T (p.Val841Phe) SNV Uncertain significance 303875 rs142090060 GRCh37: 11:18309480-18309480
GRCh38: 11:18287933-18287933
29 HPS5 NM_181507.1(HPS5):c.-263A>G SNV Uncertain significance 303907 rs886048086 GRCh37: 11:18343706-18343706
GRCh38: 11:18322159-18322159
30 HPS5 NM_181507.1(HPS5):c.1076G>A (p.Arg359His) SNV Uncertain significance 303893 rs774619545 GRCh37: 11:18320427-18320427
GRCh38: 11:18298880-18298880
31 HPS5 NM_181507.1(HPS5):c.*182C>T SNV Uncertain significance 303863 rs886048074 GRCh37: 11:18301247-18301247
GRCh38: 11:18279700-18279700
32 HPS5 NM_181507.1(HPS5):c.3214G>A (p.Ala1072Thr) SNV Uncertain significance 303868 rs886048075 GRCh37: 11:18303612-18303612
GRCh38: 11:18282065-18282065
33 HPS5 NM_181507.1(HPS5):c.241G>A (p.Ala81Thr) SNV Uncertain significance 303898 rs147053126 GRCh37: 11:18332977-18332977
GRCh38: 11:18311430-18311430
34 HPS5 NM_181507.1(HPS5):c.309A>G (p.Glu103=) SNV Uncertain significance 303896 rs77722090 GRCh37: 11:18332456-18332456
GRCh38: 11:18310909-18310909
35 HPS5 NM_181507.1(HPS5):c.163G>A (p.Gly55Arg) SNV Uncertain significance 303899 rs774361456 GRCh37: 11:18333517-18333517
GRCh38: 11:18311970-18311970
36 HPS5 NM_181507.1(HPS5):c.1510+3G>A SNV Uncertain significance 303887 rs886048080 GRCh37: 11:18318342-18318342
GRCh38: 11:18296795-18296795
37 HPS5 NM_181507.1(HPS5):c.1837C>A (p.Leu613Ile) SNV Uncertain significance 303883 rs190221223 GRCh37: 11:18314471-18314471
GRCh38: 11:18292924-18292924
38 HPS5 NM_007216.4(HPS5):c.1081del (p.Leu361fs) Deletion Uncertain significance 431164 rs766602179 GRCh37: 11:18318432-18318432
GRCh38: 11:18296885-18296885
39 HPS5 NM_181507.1(HPS5):c.1609G>T (p.Val537Leu) SNV Uncertain significance 303885 rs149677540 GRCh37: 11:18317571-18317571
GRCh38: 11:18296024-18296024
40 HPS5 NM_181507.1(HPS5):c.3076G>A (p.Val1026Met) SNV Uncertain significance 303869 rs369368194 GRCh37: 11:18303750-18303750
GRCh38: 11:18282203-18282203
41 HPS5 NM_181507.1(HPS5):c.*960T>A SNV Uncertain significance 303850 rs886048071 GRCh37: 11:18300469-18300469
GRCh38: 11:18278922-18278922
42 HPS5 NM_181507.1(HPS5):c.1475T>A (p.Leu492Gln) SNV Uncertain significance 303891 rs190883305 GRCh37: 11:18318380-18318380
GRCh38: 11:18296833-18296833
43 HPS5 NM_181507.1(HPS5):c.1075C>T (p.Arg359Cys) SNV Uncertain significance 303894 rs143073506 GRCh37: 11:18320428-18320428
GRCh38: 11:18298881-18298881
44 HPS5 NM_181507.1(HPS5):c.*812A>C SNV Uncertain significance 303852 rs755078355 GRCh37: 11:18300617-18300617
GRCh38: 11:18279070-18279070
45 HPS5 NM_181507.1(HPS5):c.-217G>A SNV Uncertain significance 303904 rs761585857 GRCh37: 11:18343660-18343660
GRCh38: 11:18322113-18322113
46 HPS5 NM_181507.1(HPS5):c.1479A>G (p.Pro493=) SNV Uncertain significance 303890 rs886048081 GRCh37: 11:18318376-18318376
GRCh38: 11:18296829-18296829
47 HPS5 NM_181507.1(HPS5):c.260A>T (p.Asp87Val) SNV Uncertain significance 303897 rs886048083 GRCh37: 11:18332958-18332958
GRCh38: 11:18311411-18311411
48 HPS5 NM_181507.1(HPS5):c.1785-9C>A SNV Uncertain significance 303884 rs886048079 GRCh37: 11:18314532-18314532
GRCh38: 11:18292985-18292985
49 HPS5 NM_181507.1(HPS5):c.2144A>G (p.Glu715Gly) SNV Uncertain significance 303881 rs886048078 GRCh37: 11:18313285-18313285
GRCh38: 11:18291738-18291738
50 HPS5 NM_181507.1(HPS5):c.3259C>T (p.Leu1087=) SNV Uncertain significance 303866 rs868410563 GRCh37: 11:18303567-18303567
GRCh38: 11:18282020-18282020

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

72
# Symbol AA change Variation ID SNP ID
1 HPS5 p.Leu624Arg VAR_062285 rs281865102
2 HPS5 p.Thr1098Ile VAR_062286 rs61884288

Expression for Hermansky-Pudlak Syndrome 5

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

Pathways for Hermansky-Pudlak Syndrome 5

GO Terms for Hermansky-Pudlak Syndrome 5

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.5 VPS39 HPS6 BLOC1S1
2 lysosomal membrane GO:0005765 9.33 VPS39 HPS6 BLOC1S1
3 axon cytoplasm GO:1904115 9.26 BLOC1S4 BLOC1S1
4 BLOC-1 complex GO:0031083 8.96 BLOC1S4 BLOC1S1
5 BLOC-2 complex GO:0031084 8.62 HPS6 HPS5

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

# Name GO ID Score Top Affiliating Genes
1 neuron projection development GO:0031175 9.4 BLOC1S4 BLOC1S1
2 pigmentation GO:0043473 9.37 HPS6 HPS5
3 anterograde axonal transport GO:0008089 9.32 BLOC1S4 BLOC1S1
4 lysosome localization GO:0032418 9.26 HPS6 BLOC1S1
5 melanosome organization GO:0032438 9.16 BLOC1S4 BLOC1S1
6 anterograde synaptic vesicle transport GO:0048490 8.96 BLOC1S4 BLOC1S1
7 organelle organization GO:0006996 8.62 HPS6 HPS5

Sources for Hermansky-Pudlak Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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