MCVD
MCID: MYP073
MIFTS: 24

Myopia, High, with Cataract and Vitreoretinal Degeneration (MCVD)

Categories: Genetic diseases

Aliases & Classifications for Myopia, High, with Cataract and Vitreoretinal Degeneration

MalaCards integrated aliases for Myopia, High, with Cataract and Vitreoretinal Degeneration:

Name: Myopia, High, with Cataract and Vitreoretinal Degeneration 56 73 29 13 6 39 71
Mcvd 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
myopia, high, with cataract and vitreoretinal degeneration:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 614292
MeSH 43 D009216
MedGen 41 C3280346
UMLS 71 C3280346

Summaries for Myopia, High, with Cataract and Vitreoretinal Degeneration

UniProtKB/Swiss-Prot : 73 Myopia, high, with cataract and vitreoretinal degeneration: A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment.

MalaCards based summary : Myopia, High, with Cataract and Vitreoretinal Degeneration, also known as mcvd, is related to myopia and neutropenia. An important gene associated with Myopia, High, with Cataract and Vitreoretinal Degeneration is P3H2 (Prolyl 3-Hydroxylase 2). Affiliated tissues include breast, and related phenotypes are retinal detachment and lens subluxation

More information from OMIM: 614292

Related Diseases for Myopia, High, with Cataract and Vitreoretinal Degeneration

Diseases related to Myopia, High, with Cataract and Vitreoretinal Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myopia 11.3
2 neutropenia 10.3

Symptoms & Phenotypes for Myopia, High, with Cataract and Vitreoretinal Degeneration

Human phenotypes related to Myopia, High, with Cataract and Vitreoretinal Degeneration:

31
# Description HPO Frequency HPO Source Accession
1 retinal detachment 31 occasional (7.5%) HP:0000541
2 lens subluxation 31 occasional (7.5%) HP:0001132
3 cataract 31 HP:0000518
4 high myopia 31 HP:0011003
5 peripheral vitreoretinal degeneration 31 HP:0200071

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract
high myopia
peripheral vitreoretinal degeneration
lens subluxation (in some patients)
increased axial length of globe
more

Clinical features from OMIM:

614292

Drugs & Therapeutics for Myopia, High, with Cataract and Vitreoretinal Degeneration

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Cohort Study of Incidence and Disk Factors of Diabetic Retinopathy and Visual Impairment in Adults With Type 2 Diabetes Recruiting NCT03571217

Search NIH Clinical Center for Myopia, High, with Cataract and Vitreoretinal Degeneration

Genetic Tests for Myopia, High, with Cataract and Vitreoretinal Degeneration

Genetic tests related to Myopia, High, with Cataract and Vitreoretinal Degeneration:

# Genetic test Affiliating Genes
1 Myopia, High, with Cataract and Vitreoretinal Degeneration 29 P3H2

Anatomical Context for Myopia, High, with Cataract and Vitreoretinal Degeneration

MalaCards organs/tissues related to Myopia, High, with Cataract and Vitreoretinal Degeneration:

40
Breast

Publications for Myopia, High, with Cataract and Vitreoretinal Degeneration

Articles related to Myopia, High, with Cataract and Vitreoretinal Degeneration:

(show all 37)
# Title Authors PMID Year
1
Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype. 56 6
25469533 2015
2
Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract. 56 6
24172257 2014
3
High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. 56 6
21885030 2011
4
Gain-tailored Yb/Ce codoped aluminosilicate fiber for laser stability improvement at high output power. 61
31510171 2019
5
Highly efficient thulium-doped high-power laser fibers fabricated by MCVD. 61
30645367 2019
6
Photodarkening-resistance improvement of Yb3+/Al3+ co-doped silica fibers fabricated via sol-gel method. 61
30470027 2018
7
Confined-doped fiber for effective mode control fabricated by MCVD process. 61
29714312 2018
8
Fabrication of europium-doped silica optical fiber with high Verdet constant. 61
27505833 2016
9
γ irradiation induced effects on bismuth active centres and related photoluminescence properties of Bi/Er co-doped optical fibres. 61
27440386 2016
10
A 23-dB bismuth-doped optical fiber amplifier for a 1700-nm band. 61
27357592 2016
11
Bi-doped fiber amplifier with a flat gain of 25  dB operating in the wavelength band 1320-1360  nm. 61
27192276 2016
12
Highly efficient Yb-free Er-La-Al doped ultra-low NA large mode area single-trench fiber laser. 61
26561099 2015
13
1120 nm diode-pumped Bi-doped fiber amplifier. 61
26393760 2015
14
Thermal regenerated grating operation at temperatures up to 1400°C using new class of multimaterial glass-based photosensitive fiber. 61
25490488 2014
15
Design, fabrication and validation of an OAM fiber supporting 36 states. 61
25401644 2014
16
Fabricating Nanoporous Silica Structure on D-Fibres through Room Temperature Self-Assembly. 61
28788571 2014
17
Depression and mortality: artifact of measurement and analysis? 61
23948631 2013
18
DFB laser based on single mode large effective area heavy concentration EDF. 61
23188334 2012
19
Ytterbium-doped fibers fabricated with atomic layer deposition method. 61
23187275 2012
20
Effective supercontinuum generation by using highly nonlinear dispersion-shifted fiber incorporated with Si nanocrystals. 61
22524002 2012
21
Effect of Zn addition on non-resonant third-order optical nonlinearity of the Cu-doped germano-silicate optical glass fiber. 61
22524031 2012
22
Very-large-mode-area photonic bandgap Bragg fiber polarizing in a wide spectral range. 61
21931392 2011
23
Large-mode-area leaky optical fiber fabricated by MCVD. 61
21743510 2011
24
Highly efficient Yb-doped silica fibers prepared by powder sinter technology. 61
21540926 2011
25
Tm3+-doped CW fiber laser based on a highly GeO2-doped dispersion-shifted fiber. 61
21643048 2011
26
Fabrication of highly nonlinear germano-silicate glass optical fiber incorporated with PbTe semiconductor quantum dots using atomization doping process and its optical nonlinearity. 61
21369080 2011
27
Experimental demonstration of spectral broadening in an all-silica Bragg fiber. 61
19770930 2009
28
Motor unit conduction velocity distribution estimation from evoked motor responses. 61
16602567 2006
29
Viewing structural inhomogeneities at the core-cladding interface of re-heated MCVD optical fiber performs with optical microscopy. 61
19488259 2004
30
Gradient-index fiber-optic microprobes for minimally invasive in vivo low-coherence interferometry. 61
18033366 2002
31
A phase II trial of mitomycin C, 5'-deoxy-5-fluorouridine, etoposide and medroxyprogesterone acetate (McVD-MPA) as a salvage chemotherapy to anthracycline-resistant tumor in relapsed breast cancer and its mechanism(s) of antitumor action. 61
11295087 2001
32
Sensory pathophysiology in chronic acquired demyelinating neuropathy. 61
8624687 1996
33
Dying to be equal: women, alcohol, and cardiovascular disease. 61
1458038 1992
34
Error analysis of optical fiber refractive-index profiling using the focusing method. 61
20531757 1988
35
Ultraviolet absorption studies of germanium silicate glasses. 61
20372417 1982
36
Profile dispersion characteristics in high-bandwidth graded-index optical fibers. 61
20234579 1980
37
Low-loss single-mode fibers with different B(2)O(3)-SiO(2) compositions. 61
20198077 1978

Variations for Myopia, High, with Cataract and Vitreoretinal Degeneration

ClinVar genetic disease variations for Myopia, High, with Cataract and Vitreoretinal Degeneration:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 P3H2 NM_018192.4(P3H2):c.556C>T (p.Gln186Ter)SNV Pathogenic 162462 rs724160006 3:189713156-189713156 3:189995367-189995367
2 P3H2 NM_018192.4(P3H2):c.297del (p.Gly100fs)deletion Pathogenic 225632 rs875989838 3:189838224-189838224 3:190120435-190120435
3 P3H2 NM_018192.4(P3H2):c.1523G>T (p.Gly508Val)SNV Pathogenic 30822 rs724159988 3:189691723-189691723 3:189973934-189973934
4 P3H2 NM_018192.4(P3H2):c.679G>T (p.Glu227Ter)SNV Likely pathogenic 635546 3:189712027-189712027 3:189994238-189994238
5 P3H2 NM_018192.4(P3H2):c.555G>T (p.Gln185His)SNV Uncertain significance 547920 rs117688924 3:189713157-189713157 3:189995368-189995368

UniProtKB/Swiss-Prot genetic disease variations for Myopia, High, with Cataract and Vitreoretinal Degeneration:

73
# Symbol AA change Variation ID SNP ID
1 P3H2 p.Gly508Val VAR_066637 rs724159988

Expression for Myopia, High, with Cataract and Vitreoretinal Degeneration

Search GEO for disease gene expression data for Myopia, High, with Cataract and Vitreoretinal Degeneration.

Pathways for Myopia, High, with Cataract and Vitreoretinal Degeneration

GO Terms for Myopia, High, with Cataract and Vitreoretinal Degeneration

Sources for Myopia, High, with Cataract and Vitreoretinal Degeneration

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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