MYP6
MCID: MYP018
MIFTS: 26

Myopia 6 (MYP6)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Myopia 6

MalaCards integrated aliases for Myopia 6:

Name: Myopia 6 56 52 73 29 13 6 71
Myp6 56 52 73
Myopia, Susceptibility to 52
Myopia, Type 6 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
myopia 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 608908
OMIM Phenotypic Series 56 PS160700
MeSH 43 D009216
MedGen 41 C1837148
SNOMED-CT via HPO 68 263681008 57190000
UMLS 71 C1837148

Summaries for Myopia 6

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. (608908)

MalaCards based summary : Myopia 6, also known as myp6, is related to myopia and cardioencephalomyopathy. An important gene associated with Myopia 6 is SCO2 (Synthesis Of Cytochrome C Oxidase 2). Affiliated tissues include retina and eye, and related phenotype is myopia.

UniProtKB/Swiss-Prot : 73 Myopia 6: A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far.

Related Diseases for Myopia 6

Symptoms & Phenotypes for Myopia 6

Human phenotypes related to Myopia 6:

31
# Description HPO Frequency HPO Source Accession
1 myopia 31 HP:0000545

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
myopia, high-grade (average spherical refractive error of -22.00d)

Clinical features from OMIM:

608908

Drugs & Therapeutics for Myopia 6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 TGFB1 and LAMA1 Gene Polymorphisms in Turkish Children With High Myopia Completed NCT03451877

Search NIH Clinical Center for Myopia 6

Genetic Tests for Myopia 6

Genetic tests related to Myopia 6:

# Genetic test Affiliating Genes
1 Myopia 6 29 SCO2

Anatomical Context for Myopia 6

MalaCards organs/tissues related to Myopia 6:

40
Retina, Eye

Publications for Myopia 6

Articles related to Myopia 6:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 56 6
23643385 2013
2
Confirmation of linkage to ocular refraction on chromosome 22q and identification of a novel linkage region on 1q. 56
17210856 2007
3
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. 6
16326995 2006
4
Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12. 56
15273935 2004
5
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper? 6
14970747 2004
6
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. 6
12020273 2002
7
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. 6
11673586 2001
8
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. 6
10545952 1999
9
Epidemiology of myopia. 56
9021311 1996
10
Delivery in Myopic Women: A Comparison of Mode of Delivery in Years 1990, 2000, and 2010. 61
31609961 2019
11
CHARACTERIZATION OF THE CHOROIDAL VASCULATURE IN MYOPIC MACULOPATHY WITH OPTICAL COHERENCE TOMOGRAPHIC ANGIOGRAPHY. 61
29952919 2019
12
Preoperative refraction, age and optical zone as predictors of optical and visual quality after advanced surface ablation in patients with high myopia: a cross-sectional study. 61
29866738 2018
13
TGFB1 and LAMA1 gene polymorphisms in children with high myopia. 61
29805427 2018
14
Environmental factors explain socioeconomic prevalence differences in myopia in 6-year-old children. 61
28607175 2018
15
Is Choroidal or Scleral Thickness Related to Myopic Macular Degeneration? 61
28166316 2017
16
Epidemiology of Myopia. 61
27898441 2016
17
Myopia and Cognitive Performance: Results From the Gutenberg Health Study. 61
27701634 2016
18
Effect of Flat Cornea on Visual Outcome after LASIK. 61
26693347 2015
19
Deafness and Myopia Syndrome 61
25590127 2015
20
Posterior corneal curvature changes following Refractive Small Incision Lenticule Extraction. 61
26229428 2015
21
Apparent progression of presbyopia after laser in situ keratomileusis in patients with early presbyopia. 61
24853261 2014
22
Objective optical quality and intraocular scattering in myopic adults. 61
25103263 2014
23
Characteristics and outcomes of pediatric retinal detachment surgery at a tertiary referral center. 61
25279123 2014
24
Central corneal sublayer pachymetry and biomechanical properties after refractive femtosecond lenticule extraction. 61
24763475 2014
25
Prevalence, causes and associations of amblyopia in year 1 students in Central China : The Anyang childhood eye study (ACES). 61
24202959 2014
26
Do findings on routine examination identify patients at risk for primary open-angle glaucoma? The rational clinical examination systematic review. 61
23677315 2013
27
Changes of axial length measured by IOL master during 2 years in eyes of adults with pathologic myopia. 61
22678715 2013
28
Choroid thickness measurement with RTVue optical coherence tomography in emmetropic eyes, mildly myopic eyes, and highly myopic eyes. 61
22865404 2012
29
Choroidal thickness and visual acuity in highly myopic eyes. 61
22466466 2012
30
Association of high myopia with crystallin beta A4 (CRYBA4) gene polymorphisms in the linkage-identified MYP6 locus. 61
22792142 2012
31
A clinical study on the role of Akshi Tarpana with Jeevantyadi Ghrita in Timira (Myopia). 61
22661851 2011
32
Comparative evaluation of anatomical and functional outcomes using brilliant blue G versus triamcinolone assisted ILM peeling in macular hole surgery in Indian population. 61
21234585 2011
33
Contrast sensitivity after zyoptix tissue saving LASIK and standard LASIK for myopia with 6-month followup. 61
21584259 2011
34
Prevalence and causes of decreased visual acuity in Singaporean Chinese preschoolers. 61
20576782 2010
35
Long-term changes in axial length in adult eyes with pathologic myopia. 61
20688315 2010
36
Influence of the extent of myopia on the progression of normal-tension glaucoma. 61
20231010 2010
37
An international collaborative family-based whole-genome linkage scan for high-grade myopia. 61
19324860 2009
38
A critical evaluation of the evidence supporting the practice of behavioural vision therapy. 61
19154276 2009
39
Intravitreal bevacizumab (Avastin) for choroidal neovascularisation secondary to pathological myopia: 6-month results. 61
18653595 2008
40
Two-year results of surgical removal of choroidal neovascular membranes related to non-age-related macular degeneration. 61
17446505 2007
41
Giant epithelial ingrowth induced by blunt injury after automated lamellar keratoplasty. 61
15909067 2005
42
Laser in situ keratomileusis flap tear during lifting for enhancement in the presence of post-photorefractive keratectomy corneal haze. 61
15050272 2004
43
[Correction of refractive errors in children with contact lenses]. 61
15782768 2004
44
Myopia and incident cataract and cataract surgery: the blue mountains eye study. 61
12454028 2002
45
Laser subepithelial keratomileusis for low to moderate myopia: 6-month follow-up. 61
12063040 2002
46
[Possibilities and results of photorefraction operations for myopia after retinal detachment surgery]. 61
11765460 2001
47
Long-term visual recovery after scleral buckling procedure of rhegmatogenous retinal detachment involving the macula. 61
10933014 2000
48
Fellow eye treatment in excimer photo refractive keratectomy. 61
11116506 2000
49
Regression and epithelial hyperplasia after myopic photorefractive keratectomy in a human cornea. 61
10330651 1999
50
[Changes in visual functions in myopia 6 months after photorefractive keratectomy]. 61
9818487 1998

Variations for Myopia 6

ClinVar genetic disease variations for Myopia 6:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCO2 NM_152299.4(NCAPH2):c.*880G>ASNV Pathogenic 5678 rs74315510 22:50962684-50962684 22:50524255-50524255
2 SCO2 NM_152299.4(NCAPH2):c.*619C>TSNV Pathogenic 5681 rs74315511 22:50962423-50962423 22:50523994-50523994
3 SCO2 NM_152299.4(NCAPH2):c.*659C>TSNV Uncertain significance 215127 rs150880212 22:50962463-50962463 22:50524034-50524034
4 SCO2 NM_152299.4(NCAPH2):c.*696C>TSNV Benign 50905 rs145100473 22:50962500-50962500 22:50524071-50524071

UniProtKB/Swiss-Prot genetic disease variations for Myopia 6:

73
# Symbol AA change Variation ID SNP ID
1 SCO2 p.Glu140Lys VAR_008874 rs74315511
2 SCO2 p.Ala259Val VAR_051912 rs8139305
3 SCO2 p.Arg114His VAR_070053 rs145100473

Expression for Myopia 6

Search GEO for disease gene expression data for Myopia 6.

Pathways for Myopia 6

GO Terms for Myopia 6

Sources for Myopia 6

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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