{ "url": "https://dantelabs.com/fr/genes/kdsr", "gene": { "slug": "kdsr", "symbol": "KDSR", "name": "3-ketodihydrosphingosine reductase", "hgnc": "HGNC:4021", "summary": null, "location": "18q21.33", "locusType": "gene with protein product", "aliases": [ "DHSR", "SDR35C1" ], "previousSymbols": [ "FVT1" ], "ensemblId": "ENSG00000119537", "entrezId": 2531, "omim": [ "136440" ], "uniprot": [ "Q06136" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "18", "start": 63327726, "end": 63367206, "strand": "-", "ensemblTranscript": "ENST00000645214.2", "refseqTranscript": "NM_002035.4", "ensemblProtein": "ENSP00000494352.1", "refseqProtein": "NP_002026.1", "exons": [ { "start": 63327726, "end": 63331901 }, { "start": 63335257, "end": 63335358 }, { "start": 63338800, "end": 63338883 }, { "start": 63344410, "end": 63344493 }, { "start": 63350888, "end": 63351079 }, { "start": 63355204, "end": 63355299 }, { "start": 63355498, "end": 63355563 }, { "start": 63359736, "end": 63359792 }, { "start": 63362779, "end": 63362868 }, { "start": 63367011, "end": 63367206 } ], "cds": { "start": 63331782, "end": 63367118 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "18", "start": 60994959, "end": 61034743, "strand": "-" }, "neighbourhood": { "release": "116", "start": 62847466, "end": 63847465, "genes": [ { "symbol": "PHLPP1", "ensemblId": "ENSG00000081913", "biotype": "protein_coding", "start": 62715424, "end": 62980433, "strand": "+", "slug": "phlpp1" }, { "symbol": "BCL2", "ensemblId": "ENSG00000171791", "biotype": "protein_coding", "start": 63123346, "end": 63320215, "strand": "-", "slug": "bcl2" }, { "symbol": "VPS4B", "ensemblId": "ENSG00000119541", "biotype": "protein_coding", "start": 63389119, "end": 63422521, "strand": "-", "slug": "vps4b" }, { "symbol": "SERPINB5", "ensemblId": "ENSG00000206075", "biotype": "protein_coding", "start": 63476817, "end": 63505085, "strand": "+", "slug": "serpinb5" }, { "symbol": "SERPINB12", "ensemblId": "ENSG00000166634", "biotype": "protein_coding", "start": 63542369, "end": 63569329, "strand": "+", "slug": "serpinb12" }, { "symbol": "SERPINB13", "ensemblId": "ENSG00000197641", "biotype": "protein_coding", "start": 63586654, "end": 63604639, "strand": "+", "slug": "serpinb13" }, { "symbol": "SERPINB4", "ensemblId": "ENSG00000206073", "biotype": "protein_coding", "start": 63637259, "end": 63644263, "strand": "-", "slug": "serpinb4" }, { "symbol": "SERPINB11", "ensemblId": "ENSG00000206072", "biotype": "protein_coding", "start": 63647579, "end": 63726432, "strand": "+", "slug": "serpinb11" }, { "symbol": "SERPINB3", "ensemblId": "ENSG00000057149", "biotype": "protein_coding", "start": 63652584, "end": 63661893, "strand": "-", "slug": "serpinb3" }, { "symbol": "SERPINB7", "ensemblId": "ENSG00000166396", "biotype": "protein_coding", "start": 63752935, "end": 63805376, "strand": "+", "slug": "serpinb7" } ], "truncated": false }, "reports": [ { "slug": "hereditary-palmoplantar-keratodermas", "name": "Kératodermies palmoplantaires héréditaires et pachyonychie congénitale", "diseases": [ { "mondoId": "MONDO:0019272", "name": "Kératodermie palmoplantaire héréditaire", "genes": 35, "inheritance": null, "description": "Épaississement héréditaire des paumes et des plantes, incluant la pachyonychie congénitale, la maladie de Meleda, les kératodermies de type Nagashima et de type bothnien, le syndrome kératite-ichtyose-surdité, ainsi que les syndromes de Papillon-Lefèvre et de Haim-Munk liés à CTSC.", "management": "Le diagnostic oriente les soins des pieds et la prise en charge de la douleur ; pour les formes liées à CTSC, un traitement dentaire précoce permet de protéger les dents, et pour les formes liées à GJB2, un contrôle de l'audition est recommandé.", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/hereditary-palmoplantar-keratodermas" }, { "slug": "inherited-thrombocytopenias", "name": "Thrombocytopénies héréditaires", "diseases": [ { "mondoId": "MONDO:0100241", "name": "Thrombocytopénie héréditaire", "genes": 33, "inheritance": null, "description": "Groupe de maladies entraînant une numération plaquettaire basse tout au long de la vie, liées à des gènes tels que MYH9, ANKRD26, ETV6, WAS, MPL, RBM8A, GATA1 et MECOM, et transmises selon des modes dominant, récessif ou lié à l’X.", "management": "Un diagnostic génétique permet d’éviter une erreur de diagnostic de thrombocytopénie immunologique, avec des traitements stéroïdiens ou une ablation de la rate inutiles, et oriente la surveillance des problèmes rénaux, auditifs ou sanguins associés.", "evidence": { "gencc": [ "ClinGen", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fr/conditions/inherited-thrombocytopenias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-blistering-of-the-skin", "name": "Abnormal blistering of the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin" }, { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormal-hair-morphology", "name": "Abnormality of the hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-hair-morphology" }, { "slug": "abnormal-nail-morphology", "name": "Abnormality of the nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-nail-morphology" }, { "slug": "abnormal-testis-morphology", "name": "Abnormality of the testis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-testis-morphology" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "congenital-nonbullous-ichthyosiform-erythroderma", "name": "Congenital nonbullous ichthyosiform erythroderma", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congenital-nonbullous-ichthyosiform-erythroderma" }, { "slug": "corneal-opacity", "name": "Corneal opacity", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/corneal-opacity" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "generalized-hirsutism", "name": "Excessive hairiness over body", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-hirsutism" }, { "slug": "macule", "name": "Flat, discolored area of skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macule" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "hypermelanotic-macule", "name": "Hyperpigmented skin patches", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypermelanotic-macule" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "irregular-hyperpigmentation", "name": "Irregular hyperpigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/irregular-hyperpigmentation" }, { "slug": "patchy-palmoplantar-hyperkeratosis", "name": "Patchy palmoplantar hyperkeratosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/patchy-palmoplantar-hyperkeratosis" }, { "slug": "cutaneous-photosensitivity", "name": "Photosensitive skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/cutaneous-photosensitivity" }, { "slug": "protruding-ear", "name": "Prominent ear", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/protruding-ear" }, { "slug": "erythema", "name": "Redness of skin or mucous membrane", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/erythema" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "neoplasm-of-the-skin", "name": "Skin cancer", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-skin" }, { "slug": "skin-plaque", "name": "Skin plaque", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skin-plaque" }, { "slug": "skin-rash", "name": "Skin rash", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skin-rash" }, { "slug": "tapered-finger", "name": "Tapered finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tapered-finger" }, { "slug": "palmoplantar-keratoderma", "name": "Thickening of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/palmoplantar-keratoderma" }, { "slug": "palmoplantar-hyperkeratosis", "name": "Thickening of the outer layer of the skin of the palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/palmoplantar-hyperkeratosis" }, { "slug": "epidermal-acanthosis", "name": "Thickening of upper layer of skin", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/epidermal-acanthosis" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/weight-loss" } ], "related": [ { "slug": "aagab", "symbol": "AAGAB", "name": "alpha and gamma adaptin binding protein", "shared": 1, "url": "https://dantelabs.com/fr/genes/aagab" }, { "slug": "actb", "symbol": "ACTB", "name": "actin beta", "shared": 1, "url": "https://dantelabs.com/fr/genes/actb" }, { "slug": "actn1", "symbol": "ACTN1", "name": "actinin alpha 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/actn1" }, { "slug": "adamts13", "symbol": "ADAMTS13", "name": "ADAM metallopeptidase with thrombospondin type 1 motif 13", "shared": 1, "url": "https://dantelabs.com/fr/genes/adamts13" }, { "slug": "ankrd26", "symbol": "ANKRD26", "name": "ankyrin repeat domain 26", "shared": 1, "url": "https://dantelabs.com/fr/genes/ankrd26" }, { "slug": "ap1b1", "symbol": "AP1B1", "name": "adaptor related protein complex 1 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/ap1b1" }, { "slug": "aqp5", "symbol": "AQP5", "name": "aquaporin 5", "shared": 1, "url": "https://dantelabs.com/fr/genes/aqp5" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/fr/genes/arpc1b" }, { "slug": "cdc42", "symbol": "CDC42", "name": "cell division cycle 42", "shared": 1, "url": "https://dantelabs.com/fr/genes/cdc42" }, { "slug": "ctsc", "symbol": "CTSC", "name": "cathepsin C", "shared": 1, "url": "https://dantelabs.com/fr/genes/ctsc" }, { "slug": "cycs", "symbol": "CYCS", "name": "cytochrome c, somatic", "shared": 1, "url": "https://dantelabs.com/fr/genes/cycs" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 1, "url": "https://dantelabs.com/fr/genes/diaph1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }