MFRP, membrane frizzled-related protein, 83552

N. diseases: 63; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 Biomarker disease GENOMICS_ENGLAND Genetic investigation of 93 families with microphthalmia or posterior microphthalmos. 29450879 2018
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 GeneticVariation disease CLINVAR Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds. 23742260 2014
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 GeneticVariation disease CLINVAR A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy. 20361016 2010
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 17167404 2006
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 Biomarker disease GENOMICS_ENGLAND A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 17167404 2006
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 GermlineCausalMutation disease ORPHANET A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. 17167404 2006
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		0.700 GeneticVariation disease UNIPROT Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein. 15976030 2005
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		0.700 Biomarker disease CTD_human
CUI: C1836006
Disease: NANOPHTHALMOS 2 (disorder)
NANOPHTHALMOS 2 (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C1970236
Disease: Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen
Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen 		0.700 Biomarker disease CTD_human
CUI: C0026010
Disease: Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.500 GeneticVariation disease BEFREE Novel compound heterozygous mutations in the MFRP gene in a Japanese patient with posterior microphthalmos. 22565643 2012
CUI: C0026010
Disease: Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.500 Biomarker disease BEFREE Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization. 18363166 2008
CUI: C0026010
Disease: Microphthalmos
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
CUI: C0026010
Disease: Microphthalmos
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