MYP2
MCID: MYP127
MIFTS: 26

Myopia 2, Autosomal Dominant (MYP2)

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

Aliases & Classifications for Myopia 2, Autosomal Dominant

MalaCards integrated aliases for Myopia 2, Autosomal Dominant:

Name: Myopia 2, Autosomal Dominant 57 6
Myopia 2 57 70
Myopia, Autosomal Dominant, Type 2 39
Myopia-2 13
Myp2 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant form


HPO:

31
myopia 2, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 160700
OMIM Phenotypic Series 57 PS160700
MedGen 41 C1834531
UMLS 70 C1834531

Summaries for Myopia 2, Autosomal Dominant

OMIM® : 57 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). (160700) (Updated 20-May-2021)

MalaCards based summary : Myopia 2, Autosomal Dominant, also known as myopia 2, is related to myopia and retinal detachment. An important gene associated with Myopia 2, Autosomal Dominant is CNP (2',3'-Cyclic Nucleotide 3' Phosphodiesterase). Affiliated tissues include eye, retina and brain, and related phenotypes are retinal detachment and abnormality of the nervous system

Related Diseases for Myopia 2, Autosomal Dominant

Graphical network of the top 20 diseases related to Myopia 2, Autosomal Dominant:



Diseases related to Myopia 2, Autosomal Dominant

Symptoms & Phenotypes for Myopia 2, Autosomal Dominant

Human phenotypes related to Myopia 2, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 retinal detachment 31 HP:0000541
2 abnormality of the nervous system 31 HP:0000707
3 high myopia 31 HP:0011003

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
severe myopia
detached retina

Neuro:
superior intelligence

Clinical features from OMIM®:

160700 (Updated 20-May-2021)

Drugs & Therapeutics for Myopia 2, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Myopia 2, Autosomal Dominant

Genetic Tests for Myopia 2, Autosomal Dominant

Anatomical Context for Myopia 2, Autosomal Dominant

MalaCards organs/tissues related to Myopia 2, Autosomal Dominant:

40
Eye, Retina, Brain

Publications for Myopia 2, Autosomal Dominant

Articles related to Myopia 2, Autosomal Dominant:

(show all 45)
# Title Authors PMID Year
1
Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis. 57 61
11449316 2001
2
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. 57
29808027 2018
3
COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. 57
19387081 2009
4
Molecular genetics of human myopia: an update. 57
19104467 2009
5
Candidate gene and locus analysis of myopia. 57
17653045 2007
6
Ethnic differences in the impact of parental myopia: findings from a population-based study of 12-year-old Australian children. 57
17525179 2007
7
Support for polygenic influences on ocular refractive error. 57
15671267 2005
8
TGFbeta-induced factor: a candidate gene for high myopia. 57
12601022 2003
9
Prevalence and characteristics of foveal retinal detachment without macular hole in high myopia. 57
12614751 2003
10
Macular retinoschisis in highly myopic eyes. 57
12036671 2002
11
Evidence that a locus for familial high myopia maps to chromosome 18p. 57
9634508 1998
12
Impact of heredity in myopia. 57
1937488 1991
13
Myopia and intelligence: a pleiotropic relationship? 57
3417304 1988
14
What causes nearsightedness? 57
3929381 1985
15
An animal model of myopia. 57
4000200 1985
16
Influence of the myopia gene on brain development. 57
1204230 1975
17
Time-varying mobility and turnover of actomyosin ring components during cytokinesis in Schizosaccharomyces pombe. 61
33326250 2021
18
Aequorivita sinensis sp. nov., isolated from sediment of the East China Sea, and reclassification of Vitellibacter todarodis as Aequorivita todarodis comb. nov. and Vitellibacter aquimaris as Aequorivita aquimaris comb. nov. 61
32375986 2020
19
Sliding filament and fixed filament mechanisms contribute to ring tension in the cytokinetic contractile ring. 61
31443136 2019
20
Distinct Roles of Myosin-II Isoforms in Cytokinesis under Normal and Stressed Conditions. 61
30928696 2019
21
Actin turnover ensures uniform tension distribution during cytokinetic actomyosin ring contraction. 61
30759055 2019
22
Vitellibacter todarodis sp. nov., isolated from intestinal tract of a squid (Todarodes pacificus). 61
29480794 2018
23
Response to Zambon et al. 61
28171751 2017
24
Myo2p is the major motor involved in actomyosin ring contraction in fission yeast. 61
28171765 2017
25
TOR complex 2 localises to the cytokinetic actomyosin ring and controls the fidelity of cytokinesis. 61
27206859 2016
26
Three myosins contribute uniquely to the assembly and constriction of the fission yeast cytokinetic contractile ring. 61
26144970 2015
27
An actin-myosin-II interaction is involved in maintaining the contractile ring in fission yeast. 61
26092938 2015
28
The association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to Chinese high myopia. 61
21541277 2011
29
Fission yeast Mto1 regulates diversity of cytoplasmic microtubule organizing centers. 61
20970338 2010
30
Assessment of TGIF as a candidate gene for myopia. 61
18172074 2008
31
Lack of association with high myopia and the MYP2 locus in the Japanese population by high resolution microsatellite analysis on chromosome 18. 61
19668486 2007
32
A single nucleotide polymorphism analysis of the LAMA1 gene in Japanese patients with high myopia. 61
19668483 2007
33
Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. 61
15862761 2005
34
Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. 61
15723005 2005
35
Linkage analysis of the genetic loci for high myopia on 18p, 12q, and 17q in 51 U.K. families. 61
15326098 2004
36
Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. 61
15223781 2004
37
Dissecting the genetics of human high myopia: a molecular biologic approach. 61
15747770 2004
38
Role of the two type II myosins, Myo2 and Myp2, in cytokinetic actomyosin ring formation and function in fission yeast. 61
12589679 2003
39
Genetic interaction between calcineurin and type 2 myosin and their involvement in the regulation of cytokinesis and chloride ion homeostasis in fission yeast. 61
12136004 2002
40
Two type V myosins with non-overlapping functions in the fission yeast Schizosaccharomyces pombe: Myo52 is concerned with growth polarity and cytokinesis, Myo51 is a component of the cytokinetic actin ring. 61
11112691 2001
41
Molecular mechanism of myosin-II assembly at the division site in Schizosaccharomyces pombe. 61
10769212 2000
42
Fission yeast myosin-II isoforms assemble into contractile rings at distinct times during mitosis. 61
10753748 2000
43
Cytokinesis in fission yeast: a myosin pas de deux. 61
10816254 2000
44
Myosin-II tails confer unique functions in Schizosaccharomyces pombe: characterization of a novel myosin-II tail. 61
10637292 2000
45
Identification of a second myosin-II in Schizosaccharomyces pombe: Myp2p is conditionally required for cytokinesis. 61
9398685 1997

Variations for Myopia 2, Autosomal Dominant

ClinVar genetic disease variations for Myopia 2, Autosomal Dominant:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNP NM_033133.5(CNP):c.59A>C (p.Lys20Thr) SNV Pathogenic 693983 GRCh37: 17:40120141-40120141
GRCh38: 17:41968123-41968123
2 CNP NM_033133.5(CNP):c.-77C>T SNV Pathogenic 834075 GRCh37: 17:40118826-40118826
GRCh38: 17:41966808-41966808
3 CNP NM_033133.5(CNP):c.1034G>A (p.Gly345Asp) SNV Pathogenic 834076 GRCh37: 17:40125710-40125710
GRCh38: 17:41973692-41973692
4 CNP NM_033133.5(CNP):c.59A>G (p.Lys20Arg) SNV Pathogenic 834077 GRCh37: 17:40120141-40120141
GRCh38: 17:41968123-41968123
5 CNP NM_033133.5(CNP):c.1015G>A (p.Val339Ile) SNV Pathogenic 834078 GRCh37: 17:40125691-40125691
GRCh38: 17:41973673-41973673
6 CNP NM_033133.5(CNP):c.-67C>T SNV Pathogenic 834079 GRCh37: 17:40118836-40118836
GRCh38: 17:41966818-41966818

Expression for Myopia 2, Autosomal Dominant

Search GEO for disease gene expression data for Myopia 2, Autosomal Dominant.

Pathways for Myopia 2, Autosomal Dominant

GO Terms for Myopia 2, Autosomal Dominant

Sources for Myopia 2, Autosomal Dominant

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
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