{ "url": "https://dantelabs.com/fi/genes/pitx3", "gene": { "slug": "pitx3", "symbol": "PITX3", "name": "paired like homeodomain 3", "hgnc": "HGNC:9006", "summary": null, "location": "10q24.32", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "ASMD" ], "ensemblId": "ENSG00000107859", "entrezId": 5309, "omim": [ "602669" ], "uniprot": [ "O75364" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "10", "start": 102230189, "end": 102241512, "strand": "-", "ensemblTranscript": "ENST00000370002.8", "refseqTranscript": "NM_005029.4", "ensemblProtein": "ENSP00000359019.3", "refseqProtein": "NP_005020.1", "exons": [ { "start": 102230189, "end": 102231101 }, { "start": 102231588, "end": 102231790 }, { "start": 102231963, "end": 102232092 }, { "start": 102241333, "end": 102241512 } ], "cds": { "start": 102230514, "end": 102232080 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "10", "start": 103989943, "end": 104001231, "strand": "-" }, "neighbourhood": { "release": "116", "start": 101735851, "end": 102735850, "genes": [ { "symbol": "FGF8", "ensemblId": "ENSG00000107831", "biotype": "protein_coding", "start": 101769817, "end": 101780371, "strand": "-", "slug": "fgf8" }, { "symbol": "NPM3", "ensemblId": "ENSG00000107833", "biotype": "protein_coding", "start": 101781318, "end": 101783446, "strand": "-", "slug": "npm3" }, { "symbol": "OGA", "ensemblId": "ENSG00000198408", "biotype": "protein_coding", "start": 101784443, "end": 101818620, "strand": "-", "slug": "oga" }, { "symbol": "KCNIP2", "ensemblId": "ENSG00000120049", "biotype": "protein_coding", "start": 101825969, "end": 101844005, "strand": "-", "slug": "kcnip2" }, { "symbol": "ARMH3", "ensemblId": "ENSG00000120029", "biotype": "protein_coding", "start": 101845599, "end": 102056262, "strand": "-", "slug": "armh3" }, { "symbol": "HPS6", "ensemblId": "ENSG00000166189", "biotype": "protein_coding", "start": 102065349, "end": 102068036, "strand": "+", "slug": "hps6" }, { "symbol": "LDB1", "ensemblId": "ENSG00000198728", "biotype": "protein_coding", "start": 102106489, "end": 102120451, "strand": "-", "slug": "ldb1" }, { "symbol": "PPRC1", "ensemblId": "ENSG00000148840", "biotype": "protein_coding", "start": 102132994, "end": 102150333, "strand": "+", "slug": "pprc1" }, { "symbol": "NOLC1", "ensemblId": "ENSG00000166197", "biotype": "protein_coding", "start": 102152170, "end": 102163875, "strand": "+", "slug": "nolc1" }, { "symbol": "ELOVL3", "ensemblId": "ENSG00000119915", "biotype": "protein_coding", "start": 102226294, "end": 102229589, "strand": "+", "slug": "elovl3" }, { "symbol": "GBF1", "ensemblId": "ENSG00000107862", "biotype": "protein_coding", "start": 102245371, "end": 102382899, "strand": "+", "slug": "gbf1" }, { "symbol": "NFKB2", "ensemblId": "ENSG00000077150", "biotype": "protein_coding", "start": 102394110, "end": 102402529, "strand": "+", "slug": "nfkb2" }, { "symbol": "PSD", "ensemblId": "ENSG00000059915", "biotype": "protein_coding", "start": 102402614, "end": 102421539, "strand": "-", "slug": "psd" }, { "symbol": "FBXL15", "ensemblId": "ENSG00000107872", "biotype": "protein_coding", "start": 102408835, "end": 102423142, "strand": "+", "slug": "fbxl15" }, { "symbol": "CUEDC2", "ensemblId": "ENSG00000107874", "biotype": "protein_coding", "start": 102423239, "end": 102432718, "strand": "-", "slug": "cuedc2" }, { "symbol": "C10orf95", "ensemblId": "ENSG00000120055", "biotype": "protein_coding", "start": 102449619, "end": 102451548, "strand": "-", "slug": "c10orf95" }, { "symbol": "SLC68A1", "ensemblId": "ENSG00000138111", "biotype": "protein_coding", "start": 102461363, "end": 102477046, "strand": "+", "slug": "slc68a1" }, { "symbol": "ACTR1A", "ensemblId": "ENSG00000138107", "biotype": "protein_coding", "start": 102461881, "end": 102502744, "strand": "-", "slug": "actr1a" }, { "symbol": "SUFU", "ensemblId": "ENSG00000107882", "biotype": "protein_coding", "start": 102503952, "end": 102633535, "strand": "+", "slug": "sufu" }, { "symbol": "TRIM8", "ensemblId": "ENSG00000171206", "biotype": "protein_coding", "start": 102642394, "end": 102662789, "strand": "+", "slug": "trim8" }, { "symbol": "ARL3", "ensemblId": "ENSG00000138175", "biotype": "protein_coding", "start": 102673731, "end": 102714527, "strand": "-", "slug": "arl3" }, { "symbol": "SFXN2", "ensemblId": "ENSG00000156398", "biotype": "protein_coding", "start": 102714476, "end": 102743492, "strand": "+", "slug": "sfxn2" } ], "truncated": false }, "reports": [ { "slug": "anterior-segment-dysgenesis-and-aniridia", "name": "Etusilmän kehityshäiriöt, Axenfeldin–Riegerin oireyhtymä ja aniridia", "diseases": [ { "mondoId": "MONDO:0019503", "name": "Etusilmän kehityshäiriöt", "genes": 8, "inheritance": null, "description": "Silmän etuosan kehityshäiriöiden ryhmä, johon kuuluu myös Petersin anomalia. Sen aiheuttavat muutokset geeneissä, kuten FOXC1, PITX3, FOXE3, CYP1B1 ja CPAMD8.", "management": "Glaukoomaan sairastumisen elinikäinen riski on korkea, joten säännöllinen silmänpaineen seuranta on suositeltavaa.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/anterior-segment-dysgenesis-and-aniridia" }, { "slug": "hereditary-congenital-and-juvenile-cataract", "name": "Perinnöllinen synnynnäinen ja lapsuusiän kaihi", "diseases": [ { "mondoId": "MONDO:0011060", "name": "Varhain alkava ei-oireyhtymäinen kaihi", "genes": 22, "inheritance": null, "description": "Kaihi, joka ilmenee syntyessä tai varhain elämässä ilman muita oireita. Sen aiheuttavat muutokset mykkyrän geeneissä, kuten kristalliineissa (CRYAA, CRYBB2, CRYGD ja muissa), sekä geeneissä GJA3, GJA8 ja MIP.", "management": "Varhainen toteaminen ja lasten leikkaushoito auttavat ehkäisemään pysyvää näönmenetystä, joka johtuu laiskasilmäisyydestä (ambylopia). Perheenjäsenille voidaan tarjota silmätarkastuksia.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/hereditary-congenital-and-juvenile-cataract" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "microphthalmia", "name": "Abnormally small eyeball", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/microphthalmia" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/blindness" }, { "slug": "chorea", "name": "Chorea", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/chorea" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/cataract" }, { "slug": "developmental-cataract", "name": "Clouding of the lens of the eye at birth", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/developmental-cataract" }, { "slug": "microcornea", "name": "Cornea of eye less than 10mm in diameter", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/microcornea" }, { "slug": "diminished-deep-tendon-reflex", "name": "Diminished deep tendon reflex", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/diminished-deep-tendon-reflex" }, { "slug": "ocular-hypertension", "name": "High eye pressure", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/ocular-hypertension" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "ocular-anterior-segment-dysgenesis", "name": "Ocular anterior segment dysgenesis", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ocular-anterior-segment-dysgenesis" }, { "slug": "opacification-of-the-corneal-stroma", "name": "Opacification of the corneal stroma", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma" }, { "slug": "peters-anomaly", "name": "Peters anomaly", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/peters-anomaly" }, { "slug": "posterior-polar-cataract", "name": "Posterior polar cataract", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/posterior-polar-cataract" }, { "slug": "hypertonia", "name": "Spasticity and rigidity of muscles", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypertonia" } ], "related": [ { "slug": "bfsp1", "symbol": "BFSP1", "name": "beaded filament structural protein 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/bfsp1" }, { "slug": "chmp4b", "symbol": "CHMP4B", "name": "charged multivesicular body protein 4B", "shared": 1, "url": "https://dantelabs.com/fi/genes/chmp4b" }, { "slug": "cpamd8", "symbol": "CPAMD8", "name": "C3 and PZP like alpha-2-macroglobulin domain containing 8", "shared": 1, "url": "https://dantelabs.com/fi/genes/cpamd8" }, { "slug": "cryab", "symbol": "CRYAB", "name": "crystallin alpha B", "shared": 1, "url": "https://dantelabs.com/fi/genes/cryab" }, { "slug": "cryba1", "symbol": "CRYBA1", "name": "crystallin beta A1", "shared": 1, "url": "https://dantelabs.com/fi/genes/cryba1" }, { "slug": "cryba2", "symbol": "CRYBA2", "name": "crystallin beta A2", "shared": 1, "url": "https://dantelabs.com/fi/genes/cryba2" }, { "slug": "cryba4", "symbol": "CRYBA4", "name": "crystallin beta A4", "shared": 1, "url": "https://dantelabs.com/fi/genes/cryba4" }, { "slug": "crybb1", "symbol": "CRYBB1", "name": "crystallin beta B1", "shared": 1, "url": "https://dantelabs.com/fi/genes/crybb1" }, { "slug": "crybb3", "symbol": "CRYBB3", "name": "crystallin beta B3", "shared": 1, "url": "https://dantelabs.com/fi/genes/crybb3" }, { "slug": "crygs", "symbol": "CRYGS", "name": "crystallin gamma S", "shared": 1, "url": "https://dantelabs.com/fi/genes/crygs" }, { "slug": "epha2", "symbol": "EPHA2", "name": "EPH receptor A2", "shared": 1, "url": "https://dantelabs.com/fi/genes/epha2" }, { "slug": "foxc1", "symbol": "FOXC1", "name": "forkhead box C1", "shared": 1, "url": "https://dantelabs.com/fi/genes/foxc1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }