{ "url": "https://dantelabs.com/pt/genes/kdf1", "gene": { "slug": "kdf1", "symbol": "KDF1", "name": "keratinocyte differentiation factor 1", "hgnc": "HGNC:26624", "summary": null, "location": "1p36.11", "locusType": "gene with protein product", "aliases": [ "FLJ34633", "RP11-344H11.3" ], "previousSymbols": [ "C1orf172" ], "ensemblId": "ENSG00000175707", "entrezId": 126695, "omim": [ "616758" ], "uniprot": [ "Q8NAX2" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 26949562, "end": 26960468, "strand": "-", "ensemblTranscript": "ENST00000320567.6", "refseqTranscript": "NM_152365.3", "ensemblProtein": "ENSP00000319179.5", "refseqProtein": "NP_689578.2", "exons": [ { "start": 26949562, "end": 26950151 }, { "start": 26950682, "end": 26950756 }, { "start": 26951342, "end": 26952412 }, { "start": 26960350, "end": 26960468 } ], "cds": { "start": 26950069, "end": 26952380 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 27276053, "end": 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"biotype": "protein_coding", "start": 27000133, "end": 27012884, "strand": "-", "slug": "tent5b" }, { "symbol": "SLC9A1", "ensemblId": "ENSG00000090020", "biotype": "protein_coding", "start": 27098809, "end": 27166981, "strand": "-", "slug": "slc9a1" }, { "symbol": "WDTC1", "ensemblId": "ENSG00000142784", "biotype": "protein_coding", "start": 27233776, "end": 27308715, "strand": "+", "slug": "wdtc1" }, { "symbol": "TMEM222", "ensemblId": "ENSG00000186501", "biotype": "protein_coding", "start": 27322139, "end": 27336401, "strand": "+", "slug": "tmem222" }, { "symbol": "SYTL1", "ensemblId": "ENSG00000142765", "biotype": "protein_coding", "start": 27342009, "end": 27353937, "strand": "+", "slug": "sytl1" }, { "symbol": "MAP3K6", "ensemblId": "ENSG00000142733", "biotype": "protein_coding", "start": 27355179, "end": 27366986, "strand": "-", "slug": "map3k6" }, { "symbol": "FCN3", "ensemblId": "ENSG00000142748", "biotype": "protein_coding", "start": 27369108, "end": 27374920, "strand": "-", "slug": "fcn3" }, { "symbol": "CD164L2", "ensemblId": "ENSG00000174950", "biotype": "protein_coding", "start": 27379176, "end": 27383339, "strand": "-", "slug": "cd164l2" }, { "symbol": "GPR3", "ensemblId": "ENSG00000181773", "biotype": "protein_coding", "start": 27392614, "end": 27395814, "strand": "+", "slug": "gpr3" }, { "symbol": "WASF2", "ensemblId": "ENSG00000158195", "biotype": "protein_coding", "start": 27404226, "end": 27490308, "strand": "-", "slug": "wasf2" } ], "truncated": false }, "reports": [ { "slug": "ectodermal-dysplasias", "name": "Displasias Ectodérmicas", "diseases": [ { "mondoId": "MONDO:0015024", "name": "Displasia Ectodérmica 12, Tipo Hipo-hidrótico/Cabelo/Dentes/Unhas", "genes": 1, "inheritance": "autosomal-dominant", "description": "Qualquer síndrome de displasia ectodérmica em que a causa da doença é uma mutação no gene KDF1.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/ectodermal-dysplasias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-the-dentition", "name": "Abnormal dentition", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-dentition" }, { "slug": "abnormal-fingernail-morphology", "name": "Abnormal fingernails", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-fingernail-morphology" }, { "slug": "abnormal-skin-pigmentation", "name": "Abnormal skin pigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-skin-pigmentation" }, { "slug": "abnormal-dental-morphology", "name": "Abnormality of dental shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-dental-morphology" }, { "slug": "acne-inversa", "name": "Acne inversa", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/acne-inversa" }, { "slug": "natal-tooth", "name": "Born with teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/natal-tooth" }, { "slug": "concave-nasal-ridge", "name": "Boxer's nasal deformity", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/concave-nasal-ridge" }, { "slug": "keratosis-pilaris", "name": "Chicken skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/keratosis-pilaris" }, { "slug": "cleft-palate", "name": "Cleft palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cleft-palate" }, { "slug": "hypohidrosis", "name": "Decreased ability to sweat", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypohidrosis" }, { "slug": "premature-loss-of-primary-teeth", "name": "Early loss of baby teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/premature-loss-of-primary-teeth" }, { "slug": "eczematoid-dermatitis", "name": "Eczema", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eczematoid-dermatitis" }, { "slug": "hypodontia", "name": "Failure of development of between one and six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypodontia" }, { "slug": "depressed-nasal-ridge", "name": "Flat nose", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/depressed-nasal-ridge" }, { "slug": "thick-vermilion-border", "name": "Full lips", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thick-vermilion-border" }, { "slug": "scarring-alopecia-of-scalp", "name": "Hair loss on scalp from scarring condition", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/scarring-alopecia-of-scalp" }, { "slug": "knuckle-pad", "name": "Knuckle pad", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/knuckle-pad" }, { "slug": "sparse-lateral-eyebrow", "name": "Limited hair on end of eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sparse-lateral-eyebrow" }, { "slug": "malignant-hyperthermia", "name": "Malignant hyperthermia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/malignant-hyperthermia" }, { "slug": "orthokeratosis", "name": "Orthokeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/orthokeratosis" }, { "slug": "palmar-hyperlinearity", "name": "Palmar hyperlinearity", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/palmar-hyperlinearity" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "short-philtrum", "name": "Short philtrum", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-philtrum" }, { "slug": "sparse-body-hair", "name": "Sparse body hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sparse-body-hair" }, { "slug": "sparse-hair", "name": "Sparse hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sparse-hair" }, { "slug": "subungual-hyperkeratosis", "name": "Thickened, discolored skin under nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/subungual-hyperkeratosis" }, { "slug": "thin-skin", "name": "Thin skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thin-skin" }, { "slug": "trichorrhexis-nodosa", "name": "Trichorrhexis nodosa", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/trichorrhexis-nodosa" }, { "slug": "hypoplastic-sweat-glands", "name": "Underdeveloped sweat glands", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoplastic-sweat-glands" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }