PDS
MCID: GLC098
MIFTS: 46

Glaucoma-Related Pigment Dispersion Syndrome (PDS)

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Glaucoma-Related Pigment Dispersion Syndrome

MalaCards integrated aliases for Glaucoma-Related Pigment Dispersion Syndrome:

Name: Glaucoma-Related Pigment Dispersion Syndrome 57 12 44
Pigment Dispersion Syndrome 57 12 76 15 73
Glaucoma, Pigment-Dispersion Type 57
Pigment Dispersion Syndrome; Pds 57
Pigment-Dispersion Type Glaucoma 12
Pigment-Dispersion Syndrome 53
Glaucoma, Open-Angle 73
Gpds1 57
Pds 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
usual onset under age 30 years


HPO:

32
glaucoma-related pigment dispersion syndrome:
Onset and clinical course young adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 600510
Disease Ontology 12 DOID:0060680
MeSH 44 C563184
MedGen 42 C1271398

Summaries for Glaucoma-Related Pigment Dispersion Syndrome

NIH Rare Diseases : 53 Pigment-dispersion syndrome is an eye disorder that occurs when pigment granules that normally adhere to the back of the iris (the colored part of the eye) flake off into the clear fluid produced by the eye (aqueous humor). These pigment granules may flow towards the drainage canals of the eye, slowly clogging them and raising the pressure within the eye (intraocular pressure or IOP). This rise in eye pressure can cause damage to the optic nerve (the nerve in the back of the eye that carries visual images to the brain). If the optic nerve becomes damaged, pigment-dispersion syndrome becomes pigmentary glaucoma. This happens in about 30% of cases. Pigment-dispersion syndrome commonly presents between the second and fourth decades, which is earlier than other types of glaucoma. While men and women are affected in equal numbers, men develop pigmentary glaucoma up to 3 times more often than women.Myopia (nearsightedness) appears to be an important risk factor in the development of pigment-dispersion syndrome and is present in up to 80% of affected individuals. The condition may be sporadic or follow an autosomal dominant pattern of inheritance with reduced penetrance . At least one genelocus on chromosome 7 has been identified. Pigment-dispersion syndrome can be treated with eye drops or other medications. In some cases, laser surgery may be performed. 

MalaCards based summary : Glaucoma-Related Pigment Dispersion Syndrome, also known as pigment dispersion syndrome, is related to open-angle glaucoma and adamantinoma of long bones. An important gene associated with Glaucoma-Related Pigment Dispersion Syndrome is GPDS1 (Glaucoma-Related Pigment Dispersion Syndrome 1). The drugs Brinzolamide and Timolol have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and lung, and related phenotypes are optic atrophy and myopia

Disease Ontology : 12 An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma.

Wikipedia : 76 Pigment dispersion syndrome (PDS) is an eye disorder that can lead to a form of glaucoma known as... more...

Description from OMIM: 600510

Related Diseases for Glaucoma-Related Pigment Dispersion Syndrome

Diseases related to Glaucoma-Related Pigment Dispersion Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 220)
# Related Disease Score Top Affiliating Genes
1 open-angle glaucoma 29.5 CYP1B1 LOXL1
2 adamantinoma of long bones 29.2 CYP1B1 PITX2
3 parkinson disease, late-onset 12.2
4 prolidase deficiency 11.7
5 pendred syndrome 11.6
6 personality disorder 11.3
7 multiple system atrophy 1 11.3
8 synucleinopathy 11.2
9 corticobasal degeneration 11.2
10 ehlers-danlos syndrome, spondylodysplastic type, 1 11.2
11 spondylodysplastic ehlers-danlos syndrome 11.2
12 perrault syndrome 1 11.1
13 ectodermal dysplasia/skin fragility syndrome 11.1
14 parkinson disease 19a, juvenile-onset 11.1
15 palladium allergic contact dermatitis 11.0
16 pendred syndrome/nonsyndromic enlarged vestibular aqueduct 11.0
17 dementia, lewy body 10.9
18 pick disease of brain 10.9
19 epilepsy, pyridoxine-dependent 10.9
20 thyroxine-binding globulin quantitative trait locus 10.9
21 convulsions, familial infantile, with paroxysmal choreoathetosis 10.9
22 kufor-rakeb syndrome 10.9
23 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.9
24 parkinson disease 17 10.9
25 parkinson disease 18, autosomal dominant 10.9
26 parkinson disease 20, early-onset 10.9
27 parkinson disease 21 10.9
28 diphallia 10.9
29 deep brain stimulation for movement disorders 10.9
30 pancreas disease 10.2
31 primary orthostatic tremor 10.2
32 pontocerebellar hypoplasia 10.2
33 peritonitis 10.2
34 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
35 autoimmune progesterone dermatitis 10.1
36 tremor 10.1
37 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 10.0
38 pemphigus foliaceus 10.0
39 dementia 10.0
40 rem sleep behavior disorder 10.0
41 movement disease 10.0
42 panic disorder 10.0
43 cervical intraepithelial neoplasia 10.0
44 horner's syndrome 10.0
45 frasier syndrome 10.0
46 retinoblastoma 10.0
47 periodontal disease 10.0
48 essential tremor 10.0
49 hydrophthalmos 9.9 CYP1B1 PITX2
50 early-onset glaucoma 9.9 CYP1B1 PITX2

Graphical network of the top 20 diseases related to Glaucoma-Related Pigment Dispersion Syndrome:



Diseases related to Glaucoma-Related Pigment Dispersion Syndrome

Symptoms & Phenotypes for Glaucoma-Related Pigment Dispersion Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
myopia
pigment-dispersion type open-angle glaucoma
optic-nerve degeneration
pigment granule deposition from iris epithelium to other ocular structures
permanent loss of sight


Clinical features from OMIM:

600510

Human phenotypes related to Glaucoma-Related Pigment Dispersion Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 optic atrophy 32 HP:0000648
2 myopia 32 HP:0000545
3 open angle glaucoma 32 HP:0012108

MGI Mouse Phenotypes related to Glaucoma-Related Pigment Dispersion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.26 ADAMTS18 LOXL1 PITX2 TYRP1
2 vision/eye MP:0005391 8.92 ADAMTS18 CYP1B1 PITX2 TYRP1

Drugs & Therapeutics for Glaucoma-Related Pigment Dispersion Syndrome

Drugs for Glaucoma-Related Pigment Dispersion Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Brinzolamide Approved 138890-62-7 68844
2
Timolol Approved 26839-75-8 33624 5478
3 Neurotransmitter Agents
4 Antihypertensive Agents
5 Anti-Arrhythmia Agents
6 Adrenergic Agents
7 Adrenergic beta-Antagonists
8 Adrenergic Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 180 Degree vs. 360 Degree Selective Laser Trabeculoplasty as Initial Therapy for Glaucoma Unknown status NCT02628223 Not Applicable
2 Pigment Dispersion Syndrome: Natural History and Possible Protective Effect of a YAG Laser Iridotomy Completed NCT01053416 Not Applicable
3 Cause of Pigment Dispersion Syndrome Completed NCT00005919
4 Pigment Dispersion Syndrome With and Without Glaucoma Completed NCT00001152
5 The Diurnal and Nocturnal Effect of Simbrinza and Timolol on Intraocular Pressure and Ocular Perfusion Pressure Completed NCT02165631
6 Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and Lens Completed NCT00001161
7 Continuous Intraocular Pressure (IOP) Monitoring in Pigmentary Dispersion Syndrome and Pigmentary Glaucoma Patients Terminated NCT01253109

Search NIH Clinical Center for Glaucoma-Related Pigment Dispersion Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: glaucoma-related pigment dispersion syndrome

Genetic Tests for Glaucoma-Related Pigment Dispersion Syndrome

Anatomical Context for Glaucoma-Related Pigment Dispersion Syndrome

MalaCards organs/tissues related to Glaucoma-Related Pigment Dispersion Syndrome:

41
Eye, Brain, Lung, Kidney, Liver, Pancreas, Myeloid

Publications for Glaucoma-Related Pigment Dispersion Syndrome

Articles related to Glaucoma-Related Pigment Dispersion Syndrome:

(show top 50) (show all 126)
# Title Authors Year
1
Pigment Dispersion Syndrome Mimicking Congenital Horner Syndrome. ( 29329469 )
2018
2
Combined central retinal vein and cilioretinal artery occlusion related to acute intra-ocular pressure rise of previously unknown pigment dispersion syndrome. ( 29673629 )
2018
3
Pigment dispersion syndrome and pigmentary glaucoma: a review and update. ( 29721842 )
2018
4
Molecular Genetics of Pigment Dispersion Syndrome and Pigmentary Glaucoma: New Insights into Mechanisms. ( 29780638 )
2018
5
Scheie's line as a first sign of pigment dispersion syndrome. ( 30527354 )
2018
6
Pigment dispersion syndrome associated with spontaneous subluxation of crystalline lens. ( 28298869 )
2017
7
Pigment dispersion syndrome andA pigmentary glaucoma after secondary sulcus transscleral fixation of single-piece foldableA posterior chamber intraocular lensesA inA Chinese aphakic patients. ( 28602325 )
2017
8
Corneal collagen crosslinking and pigment dispersion syndrome. ( 28410728 )
2017
9
A Case of Bilateral Pigment Dispersion Syndrome Following Many Years of Uninterrupted Treatment With Atropine 1% for Bilateral Congenital Cataracts. ( 28671922 )
2017
10
Chronic Central Serous Chorioretinopathy in a Patient with Pigment Dispersion Syndrome: A Possible Correlation. ( 29098100 )
2017
11
Determination Of Association Of Pigmentary Glaucoma With Pigment Dispersion Syndrome. ( 29076672 )
2017
12
Role of laser peripheral iridotomy in pigmentary glaucoma and pigment dispersion syndrome: A review of the literature. ( 28987446 )
2017
13
What's in a Gene? Pseudoexfoliation Syndrome and Pigment Dispersion Syndrome in the Same Patient. ( 26933430 )
2016
14
Update on pigment dispersion syndrome and pigmentary glaucoma. ( 27898469 )
2016
15
A Severe Case of Pigmentary Glaucoma in a Child With a Family History of Pigment Dispersion Syndrome. ( 27175994 )
2016
16
Pigment dispersion syndrome associated with optic nerve melanocytoma. ( 26008928 )
2015
17
Comparison of Ganglion Cell and Retinal Nerve Fiber Layer Thickness in Pigment Dispersion Syndrome, Pigmentary Glaucoma, and Healthy Subjects with Spectral-domain OCT. ( 26291741 )
2015
18
Pigment Dispersion Syndrome Progression to Pigmentary Glaucoma in a Latin American Population. ( 26997839 )
2015
19
Common sequence variants in the LOXL1 gene in pigment dispersion syndrome and pigmentary glaucoma. ( 24739284 )
2014
20
Longitudinal stability of the diurnal rhythm of intraocular pressure in subjects with healthy eyes, ocular hypertension and pigment dispersion syndrome. ( 25316067 )
2014
21
A 10-Year Follow-up to Determine the Effect of YAG Laser Iridotomy on the Natural History of Pigment Dispersion Syndrome: A Randomized Clinical Trial. ( 25188224 )
2014
22
Iris coloboma in one eye and pigment dispersion syndrome in the fellow eye. ( 23704455 )
2013
23
Reverse pupillary block associated with pigment dispersion syndrome after in-the-bag intraocular lens implantation. ( 24140374 )
2013
24
Secondary pigmentary glaucoma in patients with underlying primary pigment dispersion syndrome. ( 23569351 )
2013
25
The genetics of pigment dispersion syndrome and pigmentary glaucoma. ( 23218808 )
2013
26
Multispectral diagnostic imaging of the iris in pigment dispersion syndrome. ( 21423031 )
2012
27
Pupil capture of intraocular lens in vitrectomized eye with primary pigment dispersion syndrome. ( 21333885 )
2011
28
Pigment dispersion syndrome masquerading as acute anterior uveitis. ( 21595531 )
2011
29
The concave iris in pigment dispersion syndrome. ( 20801519 )
2011
30
Visual and IOP outcomes after PRK in pigment dispersion syndrome. ( 21972450 )
2011
31
Biometric analysis of pigment dispersion syndrome using anterior segment optical coherence tomography. ( 21531465 )
2011
32
The role of the lens in pigment dispersion syndrome. ( 21117571 )
2010
33
Secondary pigment dispersion syndrome with single-piece acrylic IOL. ( 20692578 )
2010
34
Pigment dispersion syndrome: An atypical presentation. ( 20606874 )
2010
35
Pigment dispersion syndrome patients do not have larger-than-normal irides. ( 20164802 )
2010
36
Aqueous humor dynamics in pigment dispersion syndrome. ( 20837793 )
2010
37
The role of the lens in pigment dispersion syndrome. ( 22785540 )
2010
38
Pigment dispersion syndrome associated with intraocular lens implantation: a new surgical technique. ( 21151331 )
2010
39
Ultrastructural analysis of the pigment dispersion syndrome in DBA/2J mice. ( 19641932 )
2009
40
Clinical characteristics of pigment dispersion syndrome in Chinese patients. ( 18989347 )
2009
41
Solving intraocular lens-related pigment dispersion syndrome with repositioning of primary sulcus implanted single-piece IOL in the capsular bag. ( 19631135 )
2009
42
Temporal evolution of intraocular pressure elevation after pupillary dilation in pigment dispersion syndrome. ( 19295368 )
2009
43
Anterior segment imaging using optical coherence tomography in atypical pigment dispersion syndrome. ( 19789610 )
2009
44
A comparison of interocular differences in patients with pigment dispersion syndrome. ( 19142127 )
2009
45
Annular and central heavy pigment deposition on the posterior lens capsule in the pigment dispersion syndrome: pigment deposition on the posterior lens capsule in the pigment dispersion syndrome. ( 17972014 )
2008
46
Pigment dispersion syndrome and pigmentary glaucoma--a major review. ( 19278484 )
2008
47
Secondary pigment dispersion syndrome after in-the-bag AcrySof intraocular lens SN60AT implantation. ( 18219355 )
2008
48
Exfoliation syndrome and exfoliation glaucoma-associated LOXL1 variations are not involved in pigment dispersion syndrome and pigmentary glaucoma. ( 18618003 )
2008
49
[Effect of mydriasis and accommodation on intraocular pressure and pigment release in patients with the pigment dispersion syndrome]. ( 17725286 )
2007
50
Infrared imaging technique may help demonstrate iris transillumination defects in blacks who show other pigment dispersion syndrome clinical signs. ( 17700286 )
2007

Variations for Glaucoma-Related Pigment Dispersion Syndrome

Expression for Glaucoma-Related Pigment Dispersion Syndrome

Search GEO for disease gene expression data for Glaucoma-Related Pigment Dispersion Syndrome.

Pathways for Glaucoma-Related Pigment Dispersion Syndrome

GO Terms for Glaucoma-Related Pigment Dispersion Syndrome

Biological processes related to Glaucoma-Related Pigment Dispersion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.8 CYP1B1 LOXL1 TYRP1

Molecular functions related to Glaucoma-Related Pigment Dispersion Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.13 CYP1B1 LOXL1 TYRP1
2 monooxygenase activity GO:0004497 8.62 CYP1B1 TYRP1

Sources for Glaucoma-Related Pigment Dispersion Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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