Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The membrane frizzled-related protein (MFRP) gene is involved in axial length (AL) regulation and MFRP mutations cause nanophthalmos; also, the hepatocyte growth factor (HGF) gene is reported to result in morphologic changes of the anterior segment and abnormal aqueous regulation that increases the risk of primary angle-closure glaucoma (PACG), while the zinc ring finger 3 (ZNRF3) gene is associated with AL.
|
30348125 |
2018 |
Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hyperopia (farsightedness) is a common and significant cause of visual impairment, and extreme hyperopia (nanophthalmos) is a consequence of loss-of-function MFRP mutations.
|
29170418 |
2017 |
Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MFRP have been reported to cause autosomal recessive posterior microphthalmia, nanophthalmos, and an ophthalmic syndrome characterized by posterior microphthalmia, high hyperopia, retinitis pigmentosa, foveoschisis, and optic disc drusen.
|
26583794 |
2016 |
Microphthalmos
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Mutations in the membrane frizzled-related protein (MFRP/Mfrp) gene, specifically expressed in the retinal pigment epithelium (RPE) and ciliary body, cause nanophthalmia or posterior microphthalmia with retinitis pigmentosa in humans, and photoreceptor degeneration in mice.
|
25357075 |
2014 |
Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos.
|
22565643 |
2012 |
Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Previous studies associated mutations in the MFRP gene with the syndrome nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen.
|
23077403 |
2012 |
Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To date one gene for nanophthalmos has been identified, encoding the membrane-type frizzled related protein MFRP.
|
21850159 |
2011 |
Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.
|
19753314 |
2009 |
Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the membrane-type frizzled-related protein (MFRP) gene have been identified in patients with pathologic high hyperopia associated with nanophthalmos or microphthalmia.
|
19169412 |
2009 |
Microphthalmos
|
0.500 |
Biomarker
|
disease |
BEFREE |
To identify the disease-causing defect in these families, we first analysed MFRP gene, then some candidate genes (CHX10, OPA1, MITF, SOX2, CRYBB1-3 and CRYBA4) and loci (MCOP1, NNO1 and NNO2) previously implicated in different forms of microphthalmia.
|
19526372 |
2009 |
Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.
|
18334955 |
2008 |
Microphthalmos
|
0.500 |
Biomarker
|
disease |
BEFREE |
Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization.
|
18363166 |
2008 |
Microphthalmos
|
0.500 |
Biomarker
|
disease |
BEFREE |
The membrane frizzled-related protein (MFRP) has been proposed as a probable candidate gene for extreme hyperopia and nanophthalmos, which are factors for angle-closure glaucoma.
|
18781223 |
2008 |
Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
|
18554571 |
2008 |
Microphthalmos
|
0.500 |
Biomarker
|
disease |
LHGDN |
We demonstrated that this clinical association is caused by a mutation in MFRP, a gene previously implicated in isolated nanophthalmos.
|
17167404 |
2006 |
Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We demonstrated that this clinical association is caused by a mutation in MFRP, a gene previously implicated in isolated nanophthalmos.
|
17167404 |
2006 |
Microphthalmos
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
We have mapped recessive nanophthalmos to a unique locus at 11q23.3 and identified four independent mutations in MFRP, a gene that is selectively expressed in the eye and encodes a protein with homology to Tolloid proteases and the Wnt-binding domain of the Frizzled transmembrane receptors.
|
15976030 |
2005 |
Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have mapped recessive nanophthalmos to a unique locus at 11q23.3 and identified four independent mutations in MFRP, a gene that is selectively expressed in the eye and encodes a protein with homology to Tolloid proteases and the Wnt-binding domain of the Frizzled transmembrane receptors.
|
15976030 |
2005 |
Microphthalmos
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Microphthalmos
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|