HPS6
MCID: HRM009
MIFTS: 44

Hermansky-Pudlak Syndrome 6 (HPS6)

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

Aliases & Classifications for Hermansky-Pudlak Syndrome 6

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 6:

Name: Hermansky-Pudlak Syndrome 6 58 12 76 30 13 6 15 74
Hps6 58 76
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 74
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 76
Hermansky-Pudlak Syndrome, Type 6 41
Platelet Storage Pool Deficiency 74
Delta Storage Pool Disease 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
predominant manifestation is oculocutaneous albinism in some patients


HPO:

33
hermansky-pudlak syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hermansky-Pudlak Syndrome 6

UniProtKB/Swiss-Prot : 76 Hermansky-Pudlak syndrome 6: 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 6, also known as hps6, is related to hermansky-pudlak syndrome 5 and oculocutaneous albinism, and has symptoms including abdominal pain An important gene associated with Hermansky-Pudlak Syndrome 6 is HPS6 (HPS6 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3). The drugs Pirfenidone and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and endothelial, and related phenotypes are photophobia and nystagmus

Disease Ontology : 12 A Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24.

Description from OMIM: 614075

Related Diseases for Hermansky-Pudlak Syndrome 6

Graphical network of the top 20 diseases related to Hermansky-Pudlak Syndrome 6:



Diseases related to Hermansky-Pudlak Syndrome 6

Symptoms & Phenotypes for Hermansky-Pudlak Syndrome 6

Human phenotypes related to Hermansky-Pudlak Syndrome 6:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 photophobia 33 very rare (1%) HP:0000613
2 nystagmus 33 HP:0000639
3 recurrent upper respiratory tract infections 33 HP:0002788
4 strabismus 33 HP:0000486
5 reduced visual acuity 33 HP:0007663
6 epistaxis 33 HP:0000421
7 bruising susceptibility 33 HP:0000978
8 prolonged bleeding time 33 HP:0003010
9 ocular albinism 33 HP:0001107
10 albinism 33 HP:0001022
11 impaired adp-induced platelet aggregation 33 HP:0004866
12 abnormal platelet granules 33 HP:0011883
13 macular hypoplasia 33 HP:0001104
14 absent foveal reflex 33 HP:0030825

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus
reduced visual acuity
ocular albinism
iris transillumination
more
Skin Nails Hair Skin:
easy bruising
light or hypopigmented skin compared to unaffected family members
recurrent purulent skin infections (in some patients)

Head And Neck Nose:
frequent nosebleeds (in some patients)

Abdomen Gastrointestinal:
no granulomatous colitis reported

Skin Nails Hair Nails:
slow nail growth (1 patient)

Neurologic Central Nervous System:
global developmental delay (1 patient)

Hematology:
prolonged bleeding time
bleeding tendency
platelets show reduced secretion in response to atp
platelets lack dense bodies on electron microscopy

Respiratory Nasopharynx:
frequent upper respiratory tract infections
no pulmonary fibrosis reported

Head And Neck Teeth:
prolonged bleeding on dental extractions (1 patient)

Genitourinary Internal Genitalia Female:
heavy menstruation

Skin Nails Hair Hair:
fair or lighter-colored scalp hair, eyebrows, and eyelashes than unaffected family members

Clinical features from OMIM:

614075

UMLS symptoms related to Hermansky-Pudlak Syndrome 6:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 6:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.33 HPS5 HPS6 SP6
2 integument MP:0010771 9.13 HPS5 HPS6 SP6
3 pigmentation MP:0001186 8.62 HPS5 HPS6

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 6

Drugs for Hermansky-Pudlak Syndrome 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
2
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
3
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 441411 12560
4
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
5
Angiotensin II Approved, Investigational Phase 1, Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
6
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
7 Peripheral Nervous System Agents Phase 2,Phase 1
8 Anti-Inflammatory Agents Phase 2,Phase 1
9 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
10 Analgesics Phase 2,Phase 1
11 Antirheumatic Agents Phase 2,Phase 1
12 Analgesics, Non-Narcotic Phase 2,Phase 1
13 Protective Agents Phase 1, Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
15 Leukotriene Antagonists Phase 1, Phase 2
16 Pharmaceutical Solutions Phase 1, Phase 2
17 Gastrointestinal Agents Phase 1, Phase 2,Phase 2
18 Antihypertensive Agents Phase 1, Phase 2
19 Erythromycin Estolate Phase 1, Phase 2
20 Erythromycin Ethylsuccinate Phase 1, Phase 2
21 Giapreza Phase 1, Phase 2
22 Lipid Regulating Agents Phase 1, Phase 2
23 Lipoxygenase Inhibitors Phase 1, Phase 2
24 Respiratory System Agents Phase 1, Phase 2
25 Anticholesteremic Agents Phase 1, Phase 2
26 Hormone Antagonists Phase 1, Phase 2
27 Hypolipidemic Agents Phase 1, Phase 2
28 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
29 Anti-Arrhythmia Agents Phase 1, Phase 2
30 Antimetabolites Phase 1, Phase 2,Phase 2
31 Free Radical Scavengers Phase 1, Phase 2
32 Hormones Phase 1, Phase 2
33 Angiotensinogen Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Antiviral Agents Phase 1, Phase 2
36 Erythromycin stearate Phase 1, Phase 2
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
38 Anti-Bacterial Agents Phase 1, Phase 2
39 Antidotes Phase 1, Phase 2
40 Angiotensin Receptor Antagonists Phase 1, Phase 2
41 Expectorants Phase 1, Phase 2
42 N-monoacetylcystine Phase 1, Phase 2
43 Antioxidants Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
3 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
4 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
5 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
6 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
7 Procurement and Analysis of Specimens From Individuals With Pulmonary Fibrosis Recruiting NCT00084305
8 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520

Search NIH Clinical Center for Hermansky-Pudlak Syndrome 6

Genetic Tests for Hermansky-Pudlak Syndrome 6

Genetic tests related to Hermansky-Pudlak Syndrome 6:

# Genetic test Affiliating Genes
1 Hermansky-Pudlak Syndrome 6 30 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome 6

MalaCards organs/tissues related to Hermansky-Pudlak Syndrome 6:

42
Lung, Skin, Endothelial, Eye

Publications for Hermansky-Pudlak Syndrome 6

Articles related to Hermansky-Pudlak Syndrome 6:

# Title Authors Year
1
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. ( 30369044 )
2018
2
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. ( 27917594 )
2017
3
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. ( 27225848 )
2016
4
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. ( 27641950 )
2016
5
The ophthalmic presentation of Hermansky-Pudlak syndrome 6. ( 26823395 )
2016
6
BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells. ( 27889498 )
2016
7
HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes. ( 25189619 )
2014
8
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. ( 19843503 )
2009
9
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. ( 15030569 )
2004
10
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. ( 12548288 )
2003

Variations for Hermansky-Pudlak Syndrome 6

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 6:

6 (show all 27)
# Gene Variation Type Significance SNP ID Assembly Location
1 HPS6 NM_024747.5(HPS6): c.1713_1716delTCTG (p.Leu572Alafs) deletion Pathogenic rs281865113 GRCh37 Chromosome 10, 103826944: 103826947
2 HPS6 NM_024747.5(HPS6): c.1713_1716delTCTG (p.Leu572Alafs) deletion Pathogenic rs281865113 GRCh38 Chromosome 10, 102067187: 102067190
3 HPS6 NM_024747.5(HPS6): c.1065dup (p.Leu356Alafs) duplication Pathogenic GRCh38 Chromosome 10, 102066539: 102066539
4 HPS6 NM_024747.5(HPS6): c.1065dup (p.Leu356Alafs) duplication Pathogenic GRCh37 Chromosome 10, 103826296: 103826296
5 HPS6 NM_024747.5(HPS6): c.1865_1866delTG (p.Leu622Argfs) deletion Pathogenic GRCh38 Chromosome 10, 102067339: 102067340
6 HPS6 NM_024747.5(HPS6): c.1865_1866delTG (p.Leu622Argfs) deletion Pathogenic GRCh37 Chromosome 10, 103827096: 103827097
7 HPS6 NM_024747.5(HPS6): c.913C> T (p.Gln305Ter) single nucleotide variant Pathogenic rs281865110 GRCh37 Chromosome 10, 103826144: 103826144
8 HPS6 NM_024747.5(HPS6): c.913C> T (p.Gln305Ter) single nucleotide variant Pathogenic rs281865110 GRCh38 Chromosome 10, 102066387: 102066387
9 HPS6 NM_024747.5(HPS6): c.815C> T (p.Thr272Ile) single nucleotide variant Pathogenic rs281865109 GRCh37 Chromosome 10, 103826046: 103826046
10 HPS6 NM_024747.5(HPS6): c.815C> T (p.Thr272Ile) single nucleotide variant Pathogenic rs281865109 GRCh38 Chromosome 10, 102066289: 102066289
11 HPS6 NM_024747.5(HPS6): c.223C> T (p.Gln75Ter) single nucleotide variant Pathogenic rs281865107 GRCh37 Chromosome 10, 103825454: 103825454
12 HPS6 NM_024747.5(HPS6): c.223C> T (p.Gln75Ter) single nucleotide variant Pathogenic rs281865107 GRCh38 Chromosome 10, 102065697: 102065697
13 HPS6 NM_024747.5(HPS6): c.1234C> T (p.Gln412Ter) single nucleotide variant Pathogenic rs281865112 GRCh37 Chromosome 10, 103826465: 103826465
14 HPS6 NM_024747.5(HPS6): c.1234C> T (p.Gln412Ter) single nucleotide variant Pathogenic rs281865112 GRCh38 Chromosome 10, 102066708: 102066708
15 NC_000005.10: g.104486890_104506841del19952 deletion Pathogenic GRCh37 Chromosome 5, 103822591: 103842542
16 NC_000005.10: g.104486890_104506841del19952 deletion Pathogenic GRCh38 Chromosome 5, 104486890: 104506841
17 HPS6 NM_024747.5(HPS6): c.238dup (p.Asp80Glyfs) duplication Likely pathogenic rs281865108 GRCh37 Chromosome 10, 103825469: 103825469
18 HPS6 NM_024747.5(HPS6): c.238dup (p.Asp80Glyfs) duplication Likely pathogenic rs281865108 GRCh38 Chromosome 10, 102065712: 102065712
19 HPS6 NM_024747.5(HPS6): c.1898delC (p.Pro633Leufs) deletion Pathogenic rs1131692332 GRCh37 Chromosome 10, 103827129: 103827129
20 HPS6 NM_024747.5(HPS6): c.1898delC (p.Pro633Leufs) deletion Pathogenic rs1131692332 GRCh38 Chromosome 10, 102067372: 102067372
21 HPS6 NM_024747.5(HPS6): c.2038C> T (p.Gln680Ter) single nucleotide variant Pathogenic rs1131692333 GRCh37 Chromosome 10, 103827269: 103827269
22 HPS6 NM_024747.5(HPS6): c.2038C> T (p.Gln680Ter) single nucleotide variant Pathogenic rs1131692333 GRCh38 Chromosome 10, 102067512: 102067512
23 HPS6 NM_024747.5(HPS6): c.1693T> G (p.Phe565Val) single nucleotide variant Likely pathogenic rs1554903728 GRCh37 Chromosome 10, 103826924: 103826924
24 HPS6 NM_024747.5(HPS6): c.1693T> G (p.Phe565Val) single nucleotide variant Likely pathogenic rs1554903728 GRCh38 Chromosome 10, 102067167: 102067167
25 HPS6 NM_024747.5(HPS6): c.1711_1712insAG (p.Cys571Terfs) insertion Pathogenic rs1220869113 GRCh37 Chromosome 10, 103826942: 103826943
26 HPS6 NM_024747.5(HPS6): c.1711_1712insAG (p.Cys571Terfs) insertion Pathogenic rs1220869113 GRCh38 Chromosome 10, 102067185: 102067186
27 HPS6 NM_024747.5: c.19_20delCT undetermined variant Likely pathogenic GRCh38 Chromosome 10, 102065491: 102065492

Expression for Hermansky-Pudlak Syndrome 6

Search GEO for disease gene expression data for Hermansky-Pudlak Syndrome 6.

Pathways for Hermansky-Pudlak Syndrome 6

GO Terms for Hermansky-Pudlak Syndrome 6

Cellular components related to Hermansky-Pudlak Syndrome 6 according to GeneCards Suite gene sharing:

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

Biological processes related to Hermansky-Pudlak Syndrome 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.16 HPS5 HPS6
2 pigmentation GO:0043473 8.96 HPS5 HPS6
3 organelle organization GO:0006996 8.62 HPS5 HPS6

Sources for Hermansky-Pudlak Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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