HPS6
MCID: HRM009
MIFTS: 46

Hermansky-Pudlak Syndrome 6 (HPS6)

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 6

MalaCards integrated aliases for Hermansky-Pudlak Syndrome 6:

Name: Hermansky-Pudlak Syndrome 6 57 12 72 29 13 6 15 70
Hps6 57 72
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells 70
Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial 72
Hermansky-Pudlak Syndrome, Type 6 39
Platelet Storage Pool Deficiency 70
Delta Storage Pool Disease 72

Characteristics:

OMIM®:

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

Miscellaneous:
predominant manifestation is oculocutaneous albinism in some patients


HPO:

31
hermansky-pudlak syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060544
OMIM® 57 614075
OMIM Phenotypic Series 57 PS203300
MeSH 44 D022861
UMLS 70 C0032197 C2931875 C3888007

Summaries for Hermansky-Pudlak Syndrome 6

UniProtKB/Swiss-Prot : 72 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 1 and hermansky-pudlak syndrome 5, 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 Losartan have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and endothelial, and related phenotypes are global developmental delay and photophobia

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

More information from OMIM: 614075 PS203300

Related Diseases for Hermansky-Pudlak Syndrome 6

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 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 hermansky-pudlak syndrome 1 32.2 HPS6 HPS5
2 hermansky-pudlak syndrome 5 32.2 HPS6 HPS5
3 hermansky-pudlak syndrome 3 32.1 HPS6 HPS5
4 hermansky-pudlak syndrome without pulmonary fibrosis 31.9 HPS6 HPS5
5 storage pool platelet disease 31.4 HPS6 HPS5
6 albinism, oculocutaneous, type iv 31.4 HPS6 HPS5
7 griscelli syndrome, type 1 31.4 HPS6 HPS5
8 albinism, oculocutaneous, type ii 31.3 HPS6 HPS5
9 exotropia 31.3 HPS6 HPS5
10 albinism, oculocutaneous, type iii 31.3 HPS6 HPS5
11 ocular albinism 30.2 HPS6 HPS5
12 oculocutaneous albinism 30.1 HPS6 HPS5
13 hermansky-pudlak syndrome 2 11.4
14 hermansky-pudlak syndrome 4 11.4
15 hermansky-pudlak syndrome 7 11.4
16 hermansky-pudlak syndrome 8 11.4
17 hermansky-pudlak syndrome 9 11.4
18 isolated delta-storage pool disease 11.4
19 pulmonary fibrosis 11.1
20 hemophilia b 11.0
21 griscelli syndrome 10.8
22 cyclothymic disorder 10.8
23 syndromic oculocutaneous albinism 10.8
24 von willebrand's disease 10.2
25 blood platelet disease 10.2
26 autosomal recessive disease 10.2
27 hermansky-pudlak syndrome 10.2
28 pathologic nystagmus 10.2
29 albinism 10.2
30 isolated foveal hypoplasia 10.2
31 factor viii deficiency 10.1
32 glanzmann thrombasthenia 1 10.1
33 hemophilia a 10.1
34 menkes disease 10.1
35 ehlers-danlos syndrome 10.1
36 thrombocytopenia 10.1
37 hemophilia 10.1
38 thrombasthenia 10.1
39 shaken baby syndrome 10.1
40 dentine erosion 10.0 AMELX AMBN
41 pulp degeneration 10.0 AMELX AMBN
42 amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2 10.0 AMELX AMBN
43 enamel caries 10.0 AMELX AMBN
44 hypercementosis 10.0 AMELX AMBN
45 tooth erosion 10.0 AMELX AMBN
46 amelogenesis imperfecta, type ib 10.0 AMELX AMBN
47 tooth resorption 10.0 AMELX AMBN
48 trichodentoosseous syndrome 10.0 AMELX AMBN
49 bone benign neoplasm 10.0 AMELX AMBN
50 dental fluorosis 10.0 AMELX AMBN

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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 photophobia 31 very rare (1%) HP:0000613
3 nystagmus 31 HP:0000639
4 recurrent upper respiratory tract infections 31 HP:0002788
5 strabismus 31 HP:0000486
6 reduced visual acuity 31 HP:0007663
7 epistaxis 31 HP:0000421
8 bruising susceptibility 31 HP:0000978
9 prolonged bleeding time 31 HP:0003010
10 ocular albinism 31 HP:0001107
11 macular hypoplasia 31 HP:0001104
12 albinism 31 HP:0001022
13 abnormal platelet granules 31 HP:0011883
14 impaired adp-induced platelet aggregation 31 HP:0004866
15 absent foveal reflex 31 HP:0030825

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
strabismus
reduced visual acuity
ocular albinism
macular hypoplasia
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 (Updated 20-May-2021)

UMLS symptoms related to Hermansky-Pudlak Syndrome 6:


abdominal pain

MGI Mouse Phenotypes related to Hermansky-Pudlak Syndrome 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.92 AMBN HPS5 HPS6 SP6

Drugs & Therapeutics for Hermansky-Pudlak Syndrome 6

Drugs for Hermansky-Pudlak Syndrome 6 (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 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 29 HPS6

Anatomical Context for Hermansky-Pudlak Syndrome 6

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

40
Eye, Lung, Endothelial, Bone

Publications for Hermansky-Pudlak Syndrome 6

Articles related to Hermansky-Pudlak Syndrome 6:

(show all 44)
# Title Authors PMID Year
1
Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. 6 57 61
27225848 2016
2
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. 61 6 57
19843503 2009
3
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. 61 57 6
17041891 2006
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
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
6
A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules. 61
33513603 2021
7
Current landscape of Oculocutaneous Albinism in Japan. 61
32969595 2021
8
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism. 61
33808351 2021
9
Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients. 61
32725903 2021
10
Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study. 61
33423334 2021
11
NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism. 61
31141302 2019
12
Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. 61
31619213 2019
13
Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. 61
30387913 2019
14
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. 61
30947698 2019
15
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing. 61
30990103 2019
16
Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids. 61
30710063 2019
17
Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. 61
30369044 2018
18
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder. 61
31249973 2018
19
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. 61
28976636 2018
20
Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9. 61
29054114 2018
21
no privacy, a Xenopus tropicalis mutant, is a model of human Hermansky-Pudlak Syndrome and allows visualization of internal organogenesis during tadpole development. 61
27595926 2017
22
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome. 61
27917594 2017
23
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. 61
28296950 2017
24
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS. 61
28640947 2017
25
BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells. 61
27889498 2016
26
The ophthalmic presentation of Hermansky-Pudlak syndrome 6. 61
26823395 2016
27
Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism. 61
27641950 2016
28
NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. 61
27593200 2016
29
Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders. 61
26806224 2016
30
Defective PDI release from platelets and endothelial cells impairs thrombus formation in Hermansky-Pudlak syndrome. 61
25593336 2015
31
HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes. 61
25189619 2014
32
snow white, a zebrafish model of Hermansky-Pudlak Syndrome type 5. 61
23893484 2013
33
Targeting protein-trafficking pathways alters melanoma treatment sensitivity. 61
22203954 2012
34
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
35
Epithelial stress and apoptosis underlie Hermansky-Pudlak syndrome-associated interstitial pneumonia. 61
20378731 2010
36
Differentially expressed genes strongly correlated with femur strength in rats. 61
19482074 2009
37
Hypoxic transcription gene profiles under the modulation of nitric oxide in nuclear run on-microarray and proteomics. 61
19725949 2009
38
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting. 61
19523149 2009
39
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. 61
15265785 2004
40
Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis. 61
15108212 2004
41
Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. 61
15030569 2004
42
The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2). 61
14718540 2004
43
BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4. 61
12756248 2003
44
Hermansky-Pudlak Syndrome 61
20301464 2000

Variations for Hermansky-Pudlak Syndrome 6

ClinVar genetic disease variations for Hermansky-Pudlak Syndrome 6:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HPS6 NM_024747.5(HPS6):c.1714_1717del (p.Leu572fs) Deletion Pathogenic 3151 rs281865113 GRCh37: 10:103826942-103826945
GRCh38: 10:102067185-102067188
2 HPS6 NM_024747.5(HPS6):c.1065dup (p.Leu356fs) Duplication Pathogenic 30671 rs1564899492 GRCh37: 10:103826295-103826296
GRCh38: 10:102066538-102066539
3 HPS6 NM_024747.5(HPS6):c.1865_1866del (p.Leu622fs) Deletion Pathogenic 30672 rs281865114 GRCh37: 10:103827096-103827097
GRCh38: 10:102067339-102067340
4 HPS6 NM_024747.5(HPS6):c.913C>T (p.Gln305Ter) SNV Pathogenic 30673 rs281865110 GRCh37: 10:103826144-103826144
GRCh38: 10:102066387-102066387
5 HPS6 NM_024747.5(HPS6):c.815C>T (p.Thr272Ile) SNV Pathogenic 30675 rs281865109 GRCh37: 10:103826046-103826046
GRCh38: 10:102066289-102066289
6 HPS6 NM_024747.5(HPS6):c.223C>T (p.Gln75Ter) SNV Pathogenic 30676 rs281865107 GRCh37: 10:103825454-103825454
GRCh38: 10:102065697-102065697
7 HPS6 NM_024747.5(HPS6):c.1234C>T (p.Gln412Ter) SNV Pathogenic 30677 rs281865112 GRCh37: 10:103826465-103826465
GRCh38: 10:102066708-102066708
8 HPS6 NM_024747.5(HPS6):c.2038C>T (p.Gln680Ter) SNV Pathogenic 431051 rs1131692333 GRCh37: 10:103827269-103827269
GRCh38: 10:102067512-102067512
9 HPS6 NM_024747.5(HPS6):c.1898del (p.Pro633fs) Deletion Pathogenic 431050 rs1131692332 GRCh37: 10:103827128-103827128
GRCh38: 10:102067371-102067371
10 HPS6 NM_024747.5(HPS6):c.1711_1712insAG (p.Cys571Ter) Insertion Pathogenic 435465 rs1220869113 GRCh37: 10:103826942-103826943
GRCh38: 10:102067185-102067186
11 HPS6 NM_024747.6(HPS6):c.1162dup (p.Trp388fs) Duplication Pathogenic 1034072 GRCh37: 10:103826392-103826393
GRCh38: 10:102066635-102066636
12 HPS6 NM_024747.6(HPS6):c.220_223dup (p.Gln75fs) Microsatellite Pathogenic 1034073 GRCh37: 10:103825442-103825443
GRCh38: 10:102065685-102065686
13 HPS6 NM_024747.5(HPS6):c.283del (p.Val95fs) Deletion Pathogenic 595731 rs1564899012 GRCh37: 10:103825513-103825513
GRCh38: 10:102065756-102065756
14 HPS6 NM_024747.6(HPS6):c.206_210dup (p.Trp71fs) Duplication Likely pathogenic 1050563 GRCh37: 10:103825435-103825436
GRCh38: 10:102065678-102065679
15 HPS6 NM_024747.6(HPS6):c.1999C>T (p.Arg667Ter) SNV Likely pathogenic 996365 GRCh37: 10:103827230-103827230
GRCh38: 10:102067473-102067473
16 HPS6 NM_024747.6(HPS6):c.335G>A (p.Trp112Ter) SNV Likely pathogenic 996366 GRCh37: 10:103825566-103825566
GRCh38: 10:102065809-102065809
17 HPS6 NM_024747.6(HPS6):c.1732C>T (p.Arg578Ter) SNV Likely pathogenic 996367 GRCh37: 10:103826963-103826963
GRCh38: 10:102067206-102067206
18 HPS6 NM_024747.5(HPS6):c.1693T>G (p.Phe565Val) SNV Likely pathogenic 435464 rs1554903728 GRCh37: 10:103826924-103826924
GRCh38: 10:102067167-102067167
19 HPS6 NM_024747.5(HPS6):c.19_20delCT Microsatellite Likely pathogenic 623366 rs1590262288 GRCh37: 10:103825248-103825249
GRCh38: 10:102065491-102065492
20 HPS6 NM_024747.6(HPS6):c.1A>G (p.Met1Val) SNV Likely pathogenic 812730 rs763073715 GRCh37: 10:103825232-103825232
GRCh38: 10:102065475-102065475
21 HPS6 NM_024747.5(HPS6):c.238dup (p.Asp80fs) Duplication Conflicting interpretations of pathogenicity 208586 rs281865108 GRCh37: 10:103825467-103825468
GRCh38: 10:102065710-102065711
22 HPS6 NM_024747.5(HPS6):c.1201G>A (p.Asp401Asn) SNV Uncertain significance 298558 rs886046651 GRCh37: 10:103826432-103826432
GRCh38: 10:102066675-102066675
23 HPS6 NM_024747.5(HPS6):c.727C>A (p.Pro243Thr) SNV Uncertain significance 298555 rs767667481 GRCh37: 10:103825958-103825958
GRCh38: 10:102066201-102066201
24 HPS6 NM_024747.5(HPS6):c.112C>G (p.Pro38Ala) SNV Uncertain significance 298550 rs746813506 GRCh37: 10:103825343-103825343
GRCh38: 10:102065586-102065586
25 HPS6 NM_024747.5(HPS6):c.2307G>A (p.Pro769=) SNV Uncertain significance 298562 rs553794194 GRCh37: 10:103827538-103827538
GRCh38: 10:102067781-102067781
26 HPS6 NM_024747.5(HPS6):c.2181A>G (p.Ala727=) SNV Uncertain significance 298560 rs199518658 GRCh37: 10:103827412-103827412
GRCh38: 10:102067655-102067655
27 HPS6 NM_024747.5(HPS6):c.1606A>G (p.Arg536Gly) SNV Uncertain significance 298559 rs757589760 GRCh37: 10:103826837-103826837
GRCh38: 10:102067080-102067080
28 HPS6 NM_024747.5(HPS6):c.1039G>A (p.Val347Ile) SNV Uncertain significance 298556 rs139517839 GRCh37: 10:103826270-103826270
GRCh38: 10:102066513-102066513
29 HPS6 NM_024747.5(HPS6):c.298C>T (p.Leu100=) SNV Uncertain significance 298553 rs886046650 GRCh37: 10:103825529-103825529
GRCh38: 10:102065772-102065772
30 HPS6 NM_024747.5(HPS6):c.138G>A (p.Leu46=) SNV Uncertain significance 298551 rs886046648 GRCh37: 10:103825369-103825369
GRCh38: 10:102065612-102065612
31 HPS6 NM_024747.6(HPS6):c.303C>T (p.Ala101=) SNV Uncertain significance 877635 GRCh37: 10:103825534-103825534
GRCh38: 10:102065777-102065777
32 HPS6 NM_024747.5(HPS6):c.1181T>C (p.Val394Ala) SNV Uncertain significance 298557 rs146521433 GRCh37: 10:103826412-103826412
GRCh38: 10:102066655-102066655
33 HPS6 NM_024747.5(HPS6):c.2231G>T (p.Gly744Val) SNV Uncertain significance 298561 rs770148492 GRCh37: 10:103827462-103827462
GRCh38: 10:102067705-102067705
34 HPS6 NM_024747.5(HPS6):c.541A>G (p.Thr181Ala) SNV Uncertain significance 435461 rs144257610 GRCh37: 10:103825772-103825772
GRCh38: 10:102066015-102066015
35 HPS6 NM_024747.6(HPS6):c.634G>A (p.Val212Met) SNV Uncertain significance 877636 GRCh37: 10:103825865-103825865
GRCh38: 10:102066108-102066108
36 HPS6 NM_024747.6(HPS6):c.1755G>T (p.Glu585Asp) SNV Uncertain significance 880436 GRCh37: 10:103826986-103826986
GRCh38: 10:102067229-102067229
37 HPS6 NM_024747.6(HPS6):c.1810C>G (p.Leu604Val) SNV Uncertain significance 880437 GRCh37: 10:103827041-103827041
GRCh38: 10:102067284-102067284
38 HPS6 NM_024747.6(HPS6):c.1951C>T (p.Arg651Trp) SNV Uncertain significance 880438 GRCh37: 10:103827182-103827182
GRCh38: 10:102067425-102067425
39 HPS6 NM_024747.6(HPS6):c.2045G>A (p.Arg682His) SNV Uncertain significance 877677 GRCh37: 10:103827276-103827276
GRCh38: 10:102067519-102067519
40 HPS6 NM_024747.6(HPS6):c.2112C>T (p.Leu704=) SNV Uncertain significance 877678 GRCh37: 10:103827343-103827343
GRCh38: 10:102067586-102067586
41 HPS6 NM_024747.6(HPS6):c.2166C>T (p.Phe722=) SNV Uncertain significance 877679 GRCh37: 10:103827397-103827397
GRCh38: 10:102067640-102067640
42 HPS6 NM_024747.6(HPS6):c.2254C>A (p.Pro752Thr) SNV Uncertain significance 877680 GRCh37: 10:103827485-103827485
GRCh38: 10:102067728-102067728
43 HPS6 NM_024747.5(HPS6):c.337C>T (p.Arg113Trp) SNV Uncertain significance 282566 rs371307947 GRCh37: 10:103825568-103825568
GRCh38: 10:102065811-102065811
44 HPS6 NM_024747.6(HPS6):c.1360A>G (p.Met454Val) SNV Uncertain significance 1029921 GRCh37: 10:103826591-103826591
GRCh38: 10:102066834-102066834
45 HPS6 NM_024747.5(HPS6):c.194C>G (p.Ala65Gly) SNV Uncertain significance 298552 rs886046649 GRCh37: 10:103825425-103825425
GRCh38: 10:102065668-102065668
46 HPS6 NM_024747.6(HPS6):c.732A>G (p.Gly244=) SNV Uncertain significance 878647 GRCh37: 10:103825963-103825963
GRCh38: 10:102066206-102066206
47 HPS6 NM_024747.6(HPS6):c.831C>G (p.Pro277=) SNV Uncertain significance 878648 GRCh37: 10:103826062-103826062
GRCh38: 10:102066305-102066305
48 HPS6 NM_024747.6(HPS6):c.1035G>A (p.Arg345=) SNV Uncertain significance 878649 GRCh37: 10:103826266-103826266
GRCh38: 10:102066509-102066509
49 HPS6 NM_024747.5(HPS6):c.1060C>T (p.His354Tyr) SNV Uncertain significance 502686 rs149692177 GRCh37: 10:103826291-103826291
GRCh38: 10:102066534-102066534
50 HPS6 NM_024747.6(HPS6):c.1127G>A (p.Arg376His) SNV Uncertain significance 878650 GRCh37: 10:103826358-103826358
GRCh38: 10:102066601-102066601

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 endoplasmic reticulum lumen GO:0005788 9.13 MEPE AMELX AMBN
2 BLOC-2 complex GO:0031084 8.62 HPS6 HPS5

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

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.5 MEPE AMELX AMBN
2 odontogenesis of dentin-containing tooth GO:0042475 9.37 AMELX AMBN
3 cellular protein metabolic process GO:0044267 9.33 MEPE AMELX AMBN
4 pigmentation GO:0043473 9.26 HPS6 HPS5
5 organelle organization GO:0006996 8.96 HPS6 HPS5
6 biomineral tissue development GO:0031214 8.8 MEPE AMELX AMBN

Molecular functions related to Hermansky-Pudlak Syndrome 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.96 AMELX AMBN
2 structural constituent of tooth enamel GO:0030345 8.62 AMELX AMBN

Sources for Hermansky-Pudlak Syndrome 6

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
Content
Loading form....