MYP3
MCID: MYP138
MIFTS: 24

Myopia 3, Autosomal Dominant (MYP3)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopia 3, Autosomal Dominant

MalaCards integrated aliases for Myopia 3, Autosomal Dominant:

Name: Myopia 3, Autosomal Dominant 56
Myopia-3 56 13
Myopia 3 71
Myp3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity


HPO:

31
myopia 3, autosomal dominant:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 56 603221
OMIM Phenotypic Series 56 PS160700
MedGen 41 C1864111
SNOMED-CT via HPO 68 263681008 34187009 42059000
UMLS 71 C1864111

Summaries for Myopia 3, Autosomal Dominant

OMIM : 56 Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear (summary by Kaiser et al., 2004). For a discussion of genetic heterogeneity of susceptibility to myopia, see 160700. (603221)

MalaCards based summary : Myopia 3, Autosomal Dominant, also known as myopia-3, is related to myopia and joint laxity, short stature, and myopia. An important gene associated with Myopia 3, Autosomal Dominant is MYP3 (Myopia 3 (High Grade, Autosomal Dominant)). The drugs Fluorometholone and Loteprednol have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are retinal detachment and high myopia

Related Diseases for Myopia 3, Autosomal Dominant

Graphical network of the top 20 diseases related to Myopia 3, Autosomal Dominant:



Diseases related to Myopia 3, Autosomal Dominant

Symptoms & Phenotypes for Myopia 3, Autosomal Dominant

Human phenotypes related to Myopia 3, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 retinal detachment 31 HP:0000541
2 high myopia 31 HP:0011003

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
detached retina
severe myopia (> -6.00 diopters)

Clinical features from OMIM:

603221

Drugs & Therapeutics for Myopia 3, Autosomal Dominant

Drugs for Myopia 3, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorometholone Approved, Investigational Phase 4 426-13-1 9878
2
Loteprednol Approved, Experimental Phase 4 129260-79-3, 82034-46-6 9865442 444025
3 Hormones Phase 4
4 Hormone Antagonists Phase 4
5 Anti-Allergic Agents Phase 4
6 glucocorticoids Phase 4
7 Anti-Inflammatory Agents Phase 4
8
Bevacizumab Approved, Investigational Phase 3 216974-75-3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized, Single Blinded Controlled Trial for Evaluation of the Safety and Efficacy of Loteprednol Versus Fluorometholone After Photorefractive Keratectomy for the Correction of Mild to Moderate Myopia, 3- Month Follow-up Study Unknown status NCT02974387 Phase 4 Fluorometholone(FML);Loteprednol (Lotemax)
2 Establishment of the Initial Protocol With Intravitreal Bevacizumab for the Treatment of Choroidal Neovascularization Associated With High Myopia:3 vs 1. Unknown status NCT01716026 Phase 3 Bevazizumab intravitreal injection
3 A Controlled Clinical Trial of the Effect of Increases Time Outdoors in the Prevention of Juvenile-onset Myopia in Chinese Children Unknown status NCT00848900
4 Myopic Macular Haemorrhages Completed NCT00345228
5 Myopia:the Role of Cone Opsin Mutations & Glasses That Control Axial Elongation Withdrawn NCT01923675

Search NIH Clinical Center for Myopia 3, Autosomal Dominant

Genetic Tests for Myopia 3, Autosomal Dominant

Anatomical Context for Myopia 3, Autosomal Dominant

MalaCards organs/tissues related to Myopia 3, Autosomal Dominant:

40
Retina, Eye

Publications for Myopia 3, Autosomal Dominant

Articles related to Myopia 3, Autosomal Dominant:

(show all 32)
# Title Authors PMID Year
1
Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. 61 56
20435602 2010
2
The association between lumican gene polymorphisms and high myopia. 56
20010793 2010
3
Association of the lumican gene functional 3'-UTR polymorphism with high myopia. 56
19643966 2010
4
A second locus for familial high myopia maps to chromosome 12q. 56
9792869 1998
5
Acetoaceto-o-Toluidide Enhances Cellular Proliferative Activity in the Urinary Bladder of Rats. 61
30796441 2019
6
Elevated hydrostatic pressure stimulates ATP release which mediates activation of the NLRP3 inflammasome via P2X4 in rat urothelial cells. 61
30099658 2018
7
Enlargement of the Axial Length and Altered Ultrastructural Features of the Sclera in a Mutant Lumican Transgenic Mouse Model. 61
27711221 2016
8
The potential repertoire of the innate immune system in the bladder: expression of pattern recognition receptors in the rat bladder and a rat urothelial cell line (MYP3 cells). 61
26490556 2015
9
Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. 61
23422819 2013
10
Mode of action of pulegone on the urinary bladder of F344 rats. 61
22499580 2012
11
An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. 61
22509102 2012
12
Evaluation of proteoglycan gene polymorphisms as risk factors in the genetic susceptibility to high myopia. 61
21743019 2011
13
The effects of oral treatment with transfluthrin on the urothelium of rats and its metabolite, tetrafluorobenzoic acid on urothelial cells in vitro. 61
21377505 2011
14
An international collaborative family-based whole-genome linkage scan for high-grade myopia. 61
19324860 2009
15
Effects of an epidermal growth factor receptor inhibitor on arsenic associated toxicity in the rat bladder epithelium. 61
19429254 2009
16
Cytotoxicity of combinations of arsenicals on rat urinary bladder urothelial cells in vitro. 61
18502017 2008
17
Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping. 61
18360688 2008
18
Identification of interspecies concordance of mechanisms of arsenic-induced bladder cancer. 61
17720352 2007
19
Yeast diversity in the extreme acidic environments of the Iberian Pyrite Belt. 61
17013554 2006
20
Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities. 61
16490510 2006
21
Exclusion of lumican and fibromodulin as candidate genes in MYP3 linked high grade myopia. 61
15592176 2004
22
Linkage analysis of the genetic loci for high myopia on 18p, 12q, and 17q in 51 U.K. families. 61
15326098 2004
23
Possible role of dimethylarsinous acid in dimethylarsinic acid-induced urothelial toxicity and regeneration in the rat. 61
12230408 2002
24
Tumorigenic conversion of a rat urothelial cell line by human polymorphonuclear leukocytes activated by lipopolysaccharide. 61
10543254 1999
25
Hepatocyte growth factor is an invasion/migration factor of rat urothelial carcinoma cells in vitro. 61
10357773 1999
26
Antisense RNA-mediated reduction of p53 induces malignant phenotype in nontumorigenic rat urothelial cells. 61
9472696 1998
27
Transformation in vitro of a nontumorigenic rat urothelial cell line by tumor necrosis factor-alpha. 61
9274856 1997
28
Tumorigenic conversion of a non-tumorigenic rat urothelial cell line by overexpression of H2O2-generating peroxisomal fatty acyl-CoA oxidase. 61
9096654 1997
29
Effect of transfected interleukin-6 in non-tumorigenic and tumorigenic rat urothelial cell lines. 61
8938144 1996
30
Transformation in vitro of a nontumorigenic rat urothelial cell line by hydrogen peroxide. 61
8840979 1996
31
Enhancement of transformation in vitro of a nontumorigenic rat urothelial cell line by interleukin 6. 61
7553633 1995
32
Effect of epidermal growth factor and transforming growth factor beta 1 on growth and invasive potentials of newly established rat bladder carcinoma cell lines. 61
8253534 1993

Variations for Myopia 3, Autosomal Dominant

Expression for Myopia 3, Autosomal Dominant

Search GEO for disease gene expression data for Myopia 3, Autosomal Dominant.

Pathways for Myopia 3, Autosomal Dominant

GO Terms for Myopia 3, Autosomal Dominant

Sources for Myopia 3, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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