MYP2
MCID: MYP127
MIFTS: 28

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 56 6
Myopia-2 56 13
Myopia, Autosomal Dominant, Type 2 39
Myopia 2 71
Myp2 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant form


HPO:

31
myopia 2, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 160700
OMIM Phenotypic Series 56 PS160700
MedGen 41 C1834531
UMLS 71 C1834531

Summaries for Myopia 2, 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). (160700)

MalaCards based summary : Myopia 2, Autosomal Dominant, also known as myopia-2, is related to myopia and joint laxity, short stature, and myopia. An important gene associated with Myopia 2, Autosomal Dominant is CNP (2',3'-Cyclic Nucleotide 3' Phosphodiesterase). Affiliated tissues include retina, eye 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:

56
Eyes:
severe myopia
detached retina

Neuro:
superior intelligence

Clinical features from OMIM:

160700

Drugs & Therapeutics for Myopia 2, Autosomal Dominant

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study of Accommodative/Vergence Therapy to Modify Accommodative Function in Children With Myopia Unknown status NCT02578407
2 Myopic Macular Haemorrhages Completed NCT00345228
3 Association Between Breastfeeding and Likelihood of Myopia in 6-7 Years Old Children Completed NCT01013493
4 Shanghai Child and Adolescent Large-scale Eye Study -High Myopia Registration Enrolling by invitation NCT03666052
5 Changes in Optical Coherence Tomography Leakage Mapping in Diabetic Macular Edema Before and After Treatment With Conbercept Not yet recruiting NCT04254536

Search 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
Retina, Eye, Brain

Publications for Myopia 2, Autosomal Dominant

Articles related to Myopia 2, Autosomal Dominant:

(show all 44)
# Title Authors PMID Year
1
Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis. 56 61
11449316 2001
2
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. 56
29808027 2018
3
COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. 56
19387081 2009
4
Molecular genetics of human myopia: an update. 56
19104467 2009
5
Candidate gene and locus analysis of myopia. 56
17653045 2007
6
Ethnic differences in the impact of parental myopia: findings from a population-based study of 12-year-old Australian children. 56
17525179 2007
7
Support for polygenic influences on ocular refractive error. 56
15671267 2005
8
TGFbeta-induced factor: a candidate gene for high myopia. 56
12601022 2003
9
Prevalence and characteristics of foveal retinal detachment without macular hole in high myopia. 56
12614751 2003
10
Macular retinoschisis in highly myopic eyes. 56
12036671 2002
11
Evidence that a locus for familial high myopia maps to chromosome 18p. 56
9634508 1998
12
Impact of heredity in myopia. 56
1937488 1991
13
Myopia and intelligence: a pleiotropic relationship? 56
3417304 1988
14
What causes nearsightedness? 56
3929381 1985
15
An animal model of myopia. 56
4000200 1985
16
Influence of the myopia gene on brain development. 56
1204230 1975
17
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
18
Sliding filament and fixed filament mechanisms contribute to ring tension in the cytokinetic contractile ring. 61
31443136 2019
19
Distinct Roles of Myosin-II Isoforms in Cytokinesis under Normal and Stressed Conditions. 61
30928696 2019
20
Actin turnover ensures uniform tension distribution during cytokinetic actomyosin ring contraction. 61
30759055 2019
21
Vitellibacter todarodis sp. nov., isolated from intestinal tract of a squid (Todarodes pacificus). 61
29480794 2018
22
Myo2p is the major motor involved in actomyosin ring contraction in fission yeast. 61
28171765 2017
23
Response to Zambon et al. 61
28171751 2017
24
TOR complex 2 localises to the cytokinetic actomyosin ring and controls the fidelity of cytokinesis. 61
27206859 2016
25
An actin-myosin-II interaction is involved in maintaining the contractile ring in fission yeast. 61
26092938 2015
26
Three myosins contribute uniquely to the assembly and constriction of the fission yeast cytokinetic contractile ring. 61
26144970 2015
27
The association of a single nucleotide polymorphism in the promoter region of the LAMA1 gene with susceptibility to Chinese high myopia. 61
21541277 2011
28
Fission yeast Mto1 regulates diversity of cytoplasmic microtubule organizing centers. 61
20970338 2010
29
Assessment of TGIF as a candidate gene for myopia. 61
18172074 2008
30
A single nucleotide polymorphism analysis of the LAMA1 gene in Japanese patients with high myopia. 61
19668483 2007
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
Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. 61
15862761 2005
33
Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes. 61
15723005 2005
34
Linkage analysis of the genetic loci for high myopia on 18p, 12q, and 17q in 51 U.K. families. 61
15326098 2004
35
Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia. 61
15223781 2004
36
Dissecting the genetics of human high myopia: a molecular biologic approach. 61
15747770 2004
37
Role of the two type II myosins, Myo2 and Myp2, in cytokinetic actomyosin ring formation and function in fission yeast. 61
12589679 2003
38
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
39
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
40
Molecular mechanism of myosin-II assembly at the division site in Schizosaccharomyces pombe. 61
10769212 2000
41
Cytokinesis in fission yeast: a myosin pas de deux. 61
10816254 2000
42
Fission yeast myosin-II isoforms assemble into contractile rings at distinct times during mitosis. 61
10753748 2000
43
Myosin-II tails confer unique functions in Schizosaccharomyces pombe: characterization of a novel myosin-II tail. 61
10637292 2000
44
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 GRCh37 Pos GRCh38 Pos
1 CNP NM_033133.5(CNP):c.59A>C (p.Lys20Thr)SNV Pathogenic 693983 17:40120141-40120141 17:41968123-41968123
2 CNP NM_033133.5(CNP):c.-77C>TSNV Pathogenic 834075 17:40118826-40118826 17:41966808-41966808
3 CNP NM_033133.5(CNP):c.1034G>A (p.Gly345Asp)SNV Pathogenic 834076 17:40125710-40125710 17:41973692-41973692
4 CNP NM_033133.5(CNP):c.59A>G (p.Lys20Arg)SNV Pathogenic 834077 17:40120141-40120141 17:41968123-41968123
5 CNP NM_033133.5(CNP):c.1015G>A (p.Val339Ile)SNV Pathogenic 834078 17:40125691-40125691 17:41973673-41973673
6 CNP NM_033133.5(CNP):c.-67C>TSNV Pathogenic 834079 17:40118836-40118836 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
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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