{ "url": "https://dantelabs.com/pl/genes/mfrp", "gene": { "slug": "mfrp", "symbol": "MFRP", "name": "membrane frizzled-related protein", "hgnc": "HGNC:18121", "summary": null, "location": "11q23.3", "locusType": "gene with protein product", "aliases": [ "FLJ30570", "rd6", "NNO2", "C1QTNF5" ], "previousSymbols": [], "ensemblId": "ENSG00000235718", "entrezId": 83552, "omim": [ "606227" ], "uniprot": [ "Q9BY79" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 119338942, "end": 119346705, "strand": "-", "ensemblTranscript": "ENST00000619721.6", "refseqTranscript": "NM_031433.4", "ensemblProtein": "ENSP00000481824.1", "refseqProtein": "NP_113621.1", "exons": [ { "start": 119338942, "end": 119339848 }, { "start": 119340184, "end": 119340440 }, { "start": 119340695, "end": 119341772 }, { "start": 119341857, "end": 119341984 }, { "start": 119342596, "end": 119342727 }, { "start": 119342873, "end": 119343003 }, { "start": 119343816, "end": 119343964 }, { "start": 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"ensemblId": "ENSG00000160695", "biotype": "protein_coding", "start": 119067789, "end": 119082753, "strand": "+", "slug": "vps11" }, { "symbol": "HMBS", "ensemblId": "ENSG00000256269", "biotype": "protein_coding", "start": 119084861, "end": 119093920, "strand": "+", "slug": "hmbs" }, { "symbol": "H2AX", "ensemblId": "ENSG00000188486", "biotype": "protein_coding", "start": 119093874, "end": 119095465, "strand": "-", "slug": "h2ax" }, { "symbol": "DPAGT1", "ensemblId": "ENSG00000172269", "biotype": "protein_coding", "start": 119095979, "end": 119108331, "strand": "-", "slug": "dpagt1" }, { "symbol": "C2CD2L", "ensemblId": "ENSG00000172375", "biotype": "protein_coding", "start": 119102198, "end": 119118544, "strand": "+", "slug": "c2cd2l" }, { "symbol": "HINFP", "ensemblId": "ENSG00000172273", "biotype": "protein_coding", "start": 119121509, "end": 119136059, "strand": "+", "slug": "hinfp" }, { "symbol": "ABCG4", "ensemblId": "ENSG00000172350", "biotype": "protein_coding", "start": 119149029, "end": 119162653, "strand": "+", "slug": "abcg4" }, { "symbol": "NLRX1", "ensemblId": "ENSG00000160703", "biotype": "protein_coding", "start": 119166481, "end": 119184017, "strand": "+", "slug": "nlrx1" }, { "symbol": "NHERF4", "ensemblId": "ENSG00000172367", "biotype": "protein_coding", "start": 119185457, "end": 119190227, "strand": "+", "slug": "nherf4" }, { "symbol": "DRC12", "ensemblId": "ENSG00000248712", "biotype": "protein_coding", "start": 119190055, "end": 119206266, "strand": "-", "slug": "drc12" }, { "symbol": "CBL", "ensemblId": "ENSG00000110395", "biotype": "protein_coding", "start": 119206036, "end": 119313926, "strand": "+", "slug": "cbl" }, { "symbol": "MCAM", "ensemblId": "ENSG00000076706", "biotype": "protein_coding", "start": 119307972, "end": 119321521, "strand": "-", "slug": "mcam" }, { "symbol": "RNF26", "ensemblId": "ENSG00000173456", "biotype": "protein_coding", "start": 119334527, "end": 119337309, "strand": "+", "slug": "rnf26" }, { "symbol": "C1QTNF5", "ensemblId": "ENSG00000223953", "biotype": "protein_coding", "start": 119338942, "end": 119340940, "strand": "-", "slug": "c1qtnf5" }, { "symbol": "USP2", "ensemblId": "ENSG00000036672", "biotype": "protein_coding", "start": 119355215, "end": 119381720, "strand": "-", "slug": "usp2" }, { "symbol": "THY1", "ensemblId": "ENSG00000154096", "biotype": "protein_coding", "start": 119415476, "end": 119424985, "strand": "-", "slug": "thy1" }, { "symbol": "NECTIN1", "ensemblId": "ENSG00000110400", "biotype": "protein_coding", "start": 119623408, "end": 119729488, "strand": "-", "slug": "nectin1" } ], "truncated": false }, "reports": [ { "slug": "microphthalmia-anophthalmia-coloboma", "name": "Mikroftalmia, anoftalmia i koloboma", "diseases": [ { "mondoId": "MONDO:0016764", "name": "Izolowana anoftalmia, mikroftalmia i koloboma", "genes": 9, "inheritance": null, "description": "Wady rozwojowe oka bez innych objawów, w tym nanoftalmia, spowodowane zmianami w genach takich jak VSX2, RAX, MFRP, PRSS56 i innych.", "management": "Osoby z nanoftalmią (najczęściej związaną z MFRP lub PRSS56) mają podwyższone ryzyko jaskry zamkniętego kąta i wymagają regularnych badań okulistycznych; diagnoza genetyczna pomaga też określić ryzyko nawrotu.", "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pl/conditions/microphthalmia-anophthalmia-coloboma" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-choroid-morphology", "name": "Abnormal choroid morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-choroid-morphology" }, { "slug": "abnormal-light-and-dark-adapted-electroretinogram", "name": "Abnormal light- and dark-adapted electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-light-and-dark-adapted-electroretinogram" }, { "slug": "abnormal-retinal-pigmentation", "name": "Abnormal retinal pigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation" }, { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "angle-closure-glaucoma", "name": "Angle closure glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/angle-closure-glaucoma" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "nyctalopia", "name": "Difficulties with night vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "foveoschisis", "name": "Foveoschisis", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/foveoschisis" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "optic-disc-drusen", "name": "Optic disc drusen", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/optic-disc-drusen" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "retinal-detachment", "name": "Retinal detachment", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/retinal-detachment" }, { "slug": "retinal-pigment-epithelial-atrophy", "name": "Retinal pigment epithelial atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-atrophy" }, { "slug": "scleral-thickening", "name": "Scleral thickening", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scleral-thickening" }, { "slug": "high-hypermetropia", "name": "Severe farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-hypermetropia" }, { "slug": "spicular-pigmentation-of-the-retina", "name": "Spicular pigmentation of the retina", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina" } ], "related": [ { "slug": "aldh1a3", "symbol": "ALDH1A3", "name": "aldehyde dehydrogenase 1 family member A3", "shared": 1, "url": "https://dantelabs.com/pl/genes/aldh1a3" }, { "slug": "fzd5", "symbol": "FZD5", "name": "frizzled class receptor 5", "shared": 1, "url": "https://dantelabs.com/pl/genes/fzd5" }, { "slug": "prss56", "symbol": "PRSS56", "name": "serine protease 56", "shared": 1, "url": "https://dantelabs.com/pl/genes/prss56" }, { "slug": "rax", "symbol": "RAX", "name": "retina and anterior neural fold homeobox", "shared": 1, "url": "https://dantelabs.com/pl/genes/rax" }, { "slug": "rbp4", "symbol": "RBP4", "name": "retinol binding protein 4", "shared": 1, "url": "https://dantelabs.com/pl/genes/rbp4" }, { "slug": "shh", "symbol": "SHH", "name": "sonic hedgehog signaling molecule", "shared": 1, "url": "https://dantelabs.com/pl/genes/shh" }, { "slug": "tmem98", "symbol": "TMEM98", "name": "transmembrane protein 98", "shared": 1, "url": "https://dantelabs.com/pl/genes/tmem98" }, { "slug": "vsx2", "symbol": "VSX2", "name": "visual system homeobox 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/vsx2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }