{ "url": "https://dantelabs.com/pt/genes/ecm1", "gene": { "slug": "ecm1", "symbol": "ECM1", "name": "extracellular matrix protein 1", "hgnc": "HGNC:3153", "summary": null, "location": "1q21.2", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000143369", "entrezId": 1893, "omim": [ "602201" ], "uniprot": [ "Q16610" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 150508109, "end": 150513789, "strand": "+", "ensemblTranscript": "ENST00000369047.9", "refseqTranscript": "NM_004425.4", "ensemblProtein": "ENSP00000358043.4", "refseqProtein": "NP_004416.2", "exons": [ { "start": 150508109, "end": 150508279 }, { "start": 150509531, "end": 150509581 }, { "start": 150509661, "end": 150509762 }, { "start": 150509922, "end": 150510002 }, { "start": 150510102, "end": 150510182 }, { "start": 150510876, "end": 150511198 }, { "start": 150511457, "end": 150511831 }, { "start": 150512352, "end": 150512572 }, { "start": 150512725, "end": 150512812 }, { "start": 150513237, "end": 150513789 } ], "cds": { "start": 150508210, "end": 150513467 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 150480538, "end": 150486265, "strand": "+" }, "neighbourhood": { "release": "116", "start": 150010949, "end": 151010948, "genes": [ { "symbol": "VPS45", "ensemblId": "ENSG00000136631", "biotype": "protein_coding", "start": 150067279, "end": 150145329, "strand": "+", "slug": "vps45" }, { "symbol": "PLEKHO1", "ensemblId": "ENSG00000023902", "biotype": "protein_coding", "start": 150149183, "end": 150164720, "strand": "+", "slug": "plekho1" }, { "symbol": "ANP32E", "ensemblId": "ENSG00000143401", "biotype": "protein_coding", "start": 150217463, "end": 150236202, "strand": "-", "slug": "anp32e" }, { "symbol": "CA14", "ensemblId": "ENSG00000118298", "biotype": "protein_coding", "start": 150257069, "end": 150265078, "strand": "+", "slug": "ca14" }, { "symbol": "APH1A", "ensemblId": "ENSG00000117362", "biotype": "protein_coding", "start": 150265042, "end": 150269580, "strand": "-", "slug": "aph1a" }, { "symbol": "C1orf54", "ensemblId": "ENSG00000118292", "biotype": "protein_coding", "start": 150268034, "end": 150281744, "strand": "+", "slug": "c1orf54" }, { "symbol": "CIART", "ensemblId": "ENSG00000159208", "biotype": "protein_coding", "start": 150282527, "end": 150287093, "strand": "+", "slug": "ciart" }, { "symbol": "MRPS21", "ensemblId": "ENSG00000266472", "biotype": "protein_coding", "start": 150293848, "end": 150309828, "strand": "+", "slug": "mrps21" }, { "symbol": "PRPF3", "ensemblId": "ENSG00000117360", "biotype": "protein_coding", "start": 150321476, "end": 150353341, "strand": "+", "slug": "prpf3" }, { "symbol": "RPRD2", "ensemblId": "ENSG00000163125", "biotype": "protein_coding", "start": 150363091, "end": 150476999, "strand": "+", "slug": "rprd2" }, { "symbol": "TARS2", "ensemblId": "ENSG00000143374", "biotype": "protein_coding", "start": 150487325, "end": 150507614, "strand": "+", "slug": "tars2" }, { "symbol": "ADAMTSL4", "ensemblId": "ENSG00000143382", "biotype": "protein_coding", "start": 150549369, "end": 150560937, "strand": "+", "slug": "adamtsl4" }, { "symbol": "MCL1", "ensemblId": "ENSG00000143384", "biotype": "protein_coding", "start": 150560895, "end": 150579738, "strand": "-", "slug": "mcl1" }, { "symbol": "ENSA", "ensemblId": "ENSG00000143420", "biotype": "protein_coding", "start": 150599671, "end": 150629633, "strand": "-", "slug": "ensa" }, { "symbol": "GOLPH3L", "ensemblId": "ENSG00000143457", "biotype": "protein_coding", "start": 150638727, "end": 150697222, "strand": "-", "slug": "golph3l" }, { "symbol": "HORMAD1", "ensemblId": "ENSG00000143452", "biotype": "protein_coding", "start": 150698059, "end": 150720895, "strand": "-", "slug": "hormad1" }, { "symbol": "CTSS", "ensemblId": "ENSG00000163131", "biotype": "protein_coding", "start": 150730079, "end": 150765957, "strand": "-", "slug": "ctss" }, { "symbol": "CTSK", "ensemblId": "ENSG00000143387", "biotype": "protein_coding", "start": 150794880, "end": 150809577, "strand": "-", "slug": "ctsk" }, { "symbol": "ARNT", "ensemblId": "ENSG00000143437", "biotype": "protein_coding", "start": 150808617, "end": 150876771, "strand": "-", "slug": "arnt" }, { "symbol": "CTXND2", "ensemblId": "ENSG00000283324", "biotype": "protein_coding", "start": 150887136, "end": 150913292, "strand": "+", "slug": "ctxnd2" }, { "symbol": "SETDB1", "ensemblId": "ENSG00000143379", "biotype": "protein_coding", "start": 150926263, "end": 150964748, "strand": "+", "slug": "setdb1" }, { "symbol": "CERS2", "ensemblId": "ENSG00000143418", "biotype": "protein_coding", "start": 150959099, "end": 150977396, "strand": "-", "slug": "cers2" }, { "symbol": "ANXA9", "ensemblId": "ENSG00000143412", "biotype": "protein_coding", "start": 150981321, "end": 150996077, "strand": "+", "slug": "anxa9" }, { "symbol": "MINDY1", "ensemblId": "ENSG00000143409", "biotype": "protein_coding", "start": 150995125, "end": 151008376, "strand": "-", "slug": "mindy1" }, { "symbol": "PRUNE1", "ensemblId": "ENSG00000143363", "biotype": "protein_coding", "start": 151008408, "end": 151035714, "strand": "+", "slug": "prune1" } ], "truncated": false }, "reports": [ { "slug": "lipoid-proteinosis", "name": "Proteinose lipoide", "diseases": [ { "mondoId": "MONDO:0009530", "name": "Proteinose lipoide", "genes": 1, "inheritance": "autosomal-recessive", "description": "Uma doença associada ao gene ECM1, com voz rouca desde a infância, pápulas em forma de contas nas pálpebras, cicatrizes na pele e, por vezes, calcificação no cérebro que pode provocar convulsões.", "management": "O diagnóstico pode explicar uma rouquidão de longa duração e leva à avaliação de possíveis convulsões.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/lipoid-proteinosis" } ], "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": "cerebral-calcification", "name": "Abnormal deposits of calcium in the brain", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cerebral-calcification" }, { "slug": "abnormal-oral-mucosa-morphology", "name": "Abnormality of lining of mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-oral-mucosa-morphology" }, { "slug": "abnormal-gingiva-morphology", "name": "Abnormality of the gums", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-gingiva-morphology" }, { "slug": "microglossia", "name": "Abnormally small tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microglossia" }, { "slug": "alopecia-of-scalp", "name": "Absence of scalp hair", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/alopecia-of-scalp" }, { "slug": "acne", "name": "Acne", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/acne" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "bilateral-intracerebral-calcifications", "name": "Bilateral intracerebral calcifications", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/bilateral-intracerebral-calcifications" }, { "slug": "generalized-non-motor-absence-seizure", "name": "Brief seizures with staring spells", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/generalized-non-motor-absence-seizure" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "subcutaneous-nodule", "name": "Firm lump under the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/subcutaneous-nodule" }, { "slug": "thick-lower-lip-vermilion", "name": "Full lower lip", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thick-lower-lip-vermilion" }, { "slug": "hallucinations", "name": "Hallucinations", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hallucinations" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "hoarse-voice", "name": "Hoarse voice", "systems": [ "abnormality-of-the-voice" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hoarse-voice" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "memory-impairment", "name": "Memory impairment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "multiple-eyelid-beaded-papules", "name": "Multiple eyelid beaded papules", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/multiple-eyelid-beaded-papules" }, { "slug": "nasal-polyposis", "name": "Nasal polyposis", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nasal-polyposis" }, { "slug": "papillary-dermis-eosinophilic-hyaline-material", "name": "Papillary dermis eosinophilic hyaline material", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/papillary-dermis-eosinophilic-hyaline-material" }, { "slug": "papule", "name": "Papule", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/papule" }, { "slug": "paranoia", "name": "Paranoia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/paranoia" }, { "slug": "patchy-alopecia", "name": "Patchy baldness", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/patchy-alopecia" }, { "slug": "pustule", "name": "Pimple", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pustule" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "reduced-epidermal-extracellular-matrix-protein-1-protein-expression", "name": "Reduced epidermal extracellular matrix protein 1 protein expression", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/reduced-epidermal-extracellular-matrix-protein-1-protein-expression" }, { "slug": "scarring", "name": "Scarring", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/scarring" }, { "slug": "skin-erosion", "name": "Skin erosion", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skin-erosion" }, { "slug": "skin-plaque", "name": "Skin plaque", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skin-plaque" }, { "slug": "temporal-lobe-calcification", "name": "Temporal lobe calcification", "systems": [ "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/temporal-lobe-calcification" }, { "slug": "thickened-skin", "name": "Thickened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thickened-skin" }, { "slug": "tongue-nodules", "name": "Tongue nodules", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/tongue-nodules" }, { "slug": "verrucae", "name": "Warts", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/verrucae" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }