{ "url": "https://dantelabs.com/tr/genes/mfsd8", "gene": { "slug": "mfsd8", "symbol": "MFSD8", "name": "major facilitator superfamily domain containing 8", "hgnc": "HGNC:28486", "summary": null, "location": "4q28.2", "locusType": "gene with protein product", "aliases": [ "SLC74A1", "MGC33302" ], "previousSymbols": [ "CLN7" ], "ensemblId": "ENSG00000164073", "entrezId": 256471, "omim": [ "611124" ], "uniprot": [ "Q8NHS3" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "4", "start": 127917805, "end": 127965173, "strand": "-", "ensemblTranscript": "ENST00000641686.2", "refseqTranscript": "NM_001371596.2", "ensemblProtein": "ENSP00000493218.2", "refseqProtein": "NP_001358525.1", "exons": [ { "start": 127917805, "end": 127920836 }, { "start": 127921524, "end": 127921771 }, { "start": 127921860, "end": 127921963 }, { "start": 127930683, "end": 127930817 }, { "start": 127932985, "end": 127933093 }, { "start": 127938783, "end": 127938838 }, { "start": 127939853, "end": 127939997 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anti-VEGF enjeksiyonları (ranibizumab, aflibercept); coğrafik atrofi için pegcetacoplan (Syfovre); GA için avacincaptad (Izervay); sigarayı bırakma; kan basıncı yönetimi; UV korunması; düşük görme rehabilitasyonu", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/age-related-macular-degeneration" }, { "slug": "neuronal-ceroid-lipofuscinosis", "name": "Nöronal Seroid Lipofuscinozu", "diseases": [ { "mondoId": "MONDO:0015674", "name": "Geç İnfantil Nöronal Seroid Lipofuscinozu", "genes": 3, "inheritance": "autosomal-recessive", "description": "Tipik olarak bebeklik veya erken çocukluk döneminde zihinsel ve motor yeteneklerde gerileme, epilepsi ve retina dejenerasyonu yoluyla görme kaybıyla başlayan, genetik olarak heterojen bir nöronal seroid lipofuscinozları (NCL) grubu.", "management": null, "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0016295", "name": "Nöronal Seroid Lipofuscinozu", "genes": 13, "inheritance": "autosomal-recessive", "description": "Klinik olarak zihinsel ve diğer yeteneklerde gerileme, epilepsi ve retina dejenerasyonu yoluyla görme kaybıyla; histopatolojik olarak ise beyin ve retinadaki nöronal hücrelerde otofloresan madde olan seroid lipofuscinin hücre içinde birikmesiyle karakterize, kalıtsal ilerleyici dejeneratif beyin hastalıkları grubu.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/neuronal-ceroid-lipofuscinosis" }, { "slug": "lysosomal-storage-disease", "name": "Lizozomal Depo Hastalığı", "diseases": [ { "mondoId": "MONDO:0002561", "name": "Lizozomal depo hastalığı (diğer ve belirtilmemiş tipler)", "genes": 59, "inheritance": null, "description": "Farber hastalığı ve diğer ASAH1 ilişkili bozukluklar, prosaposin (PSAP) eksiklikleri, çoklu sülfataz eksikliği, mukopolisakkaridoz tip IX ve X ile Dorfman-Chanarin hastalığı gibi, kendine özgü raporu bulunmayan lizozomal depo hastalıklarını kapsar; kalıtım alt tipe göre değişir ve çoğunlukla otozomal resesiftir.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/tr/conditions/lysosomal-storage-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "color-vision-defect", "name": "Abnormal color vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/color-vision-defect" }, { "slug": "abnormal-full-field-electroretinogram", "name": "Abnormal full-field electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram" }, { "slug": "abnormal-retinal-pigmentation", "name": "Abnormal retinal pigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "central-scotoma", "name": "Blind spot located at fixation point", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/central-scotoma" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/blindness" }, { "slug": "bull-s-eye-maculopathy", "name": "Bull's eye maculopathy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bull-s-eye-maculopathy" }, { "slug": "dyschromatopsia", "name": "Color blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dyschromatopsia" }, { "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": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "cerebral-atrophy", "name": "Degeneration of cerebrum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebral-atrophy" }, { "slug": "delayed-speech-and-language-development", "name": "Delayed speech and language development", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/delayed-speech-and-language-development" }, { "slug": "nyctalopia", "name": "Difficulties with night vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nyctalopia" }, { "slug": "sleep-disturbance", "name": "Difficulty sleeping", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/sleep-disturbance" }, { "slug": "eeg-abnormality", "name": "EEG abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/eeg-abnormality" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "generalized-myoclonic-seizure", "name": "Generalized myoclonic seizure", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/generalized-myoclonic-seizure" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "macular-dystrophy", "name": "Macular dystrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macular-dystrophy" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "metamorphopsia", "name": "Metamorphopsia", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/metamorphopsia" }, { "slug": "attenuation-of-retinal-blood-vessels", "name": "Narrowing of blood vessels in back of eye", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/attenuation-of-retinal-blood-vessels" }, { "slug": "retinopathy", "name": "Noninflammatory retina disease", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/retinopathy" }, { "slug": "neurodegeneration", "name": "Ongoing loss of nerve cells", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/neurodegeneration" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "perifoveal-ring-of-hyperautofluorescence", "name": "Perifoveal ring of hyperautofluorescence", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/perifoveal-ring-of-hyperautofluorescence" }, { "slug": "pigmentary-retinopathy", "name": "Pigmentary retinopathy", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/pigmentary-retinopathy" }, { "slug": "progressive-visual-loss", "name": "Progressive loss of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-visual-loss" }, { "slug": "red-green-dyschromatopsia", "name": "Red green color blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/red-green-dyschromatopsia" }, { "slug": "retinal-atrophy", "name": "Retinal atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinal-atrophy" }, { "slug": "high-myopia", "name": "Severe near sightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-myopia" }, { "slug": "spicular-pigmentation-of-the-retina", "name": "Spicular pigmentation of the retina", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spicular-pigmentation-of-the-retina" }, { "slug": "visual-impairment", "name": "Visual impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/visual-impairment" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/visual-loss" } ], "related": [ { "slug": "cln5", "symbol": "CLN5", "name": "CLN5 lysosomal BMP synthase", "shared": 3, "url": "https://dantelabs.com/tr/genes/cln5" }, { "slug": "cln6", "symbol": "CLN6", "name": "CLN6 transmembrane ER protein", "shared": 3, "url": "https://dantelabs.com/tr/genes/cln6" }, { "slug": "clcn6", "symbol": "CLCN6", "name": "Cl-/H+ antiporter 6", "shared": 2, "url": "https://dantelabs.com/tr/genes/clcn6" }, { "slug": "cln3", "symbol": "CLN3", "name": "CLN3 lysosomal/endosomal transmembrane protein, battenin", "shared": 2, "url": "https://dantelabs.com/tr/genes/cln3" }, { "slug": "cln8", "symbol": "CLN8", "name": "CLN8 transmembrane ER and ERGIC protein", "shared": 2, "url": "https://dantelabs.com/tr/genes/cln8" }, { "slug": "ctsd", "symbol": "CTSD", "name": "cathepsin D", "shared": 2, "url": "https://dantelabs.com/tr/genes/ctsd" }, { "slug": "ctsf", "symbol": "CTSF", "name": "cathepsin F", "shared": 2, "url": "https://dantelabs.com/tr/genes/ctsf" }, { "slug": "dnajc5", "symbol": "DNAJC5", "name": "DnaJ heat shock protein family (Hsp40) member C5", "shared": 2, "url": "https://dantelabs.com/tr/genes/dnajc5" }, { "slug": "grn", "symbol": "GRN", "name": "granulin precursor", "shared": 2, "url": "https://dantelabs.com/tr/genes/grn" }, { "slug": "kctd7", "symbol": "KCTD7", "name": "potassium channel tetramerization domain containing 7", "shared": 2, "url": "https://dantelabs.com/tr/genes/kctd7" }, { "slug": "ppt1", "symbol": "PPT1", "name": "palmitoyl-protein thioesterase 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/ppt1" }, { "slug": "tpp1", "symbol": "TPP1", "name": "tripeptidyl peptidase 1", "shared": 2, "url": "https://dantelabs.com/tr/genes/tpp1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }