{ "url": "https://dantelabs.com/ko/genes/etfdh", "gene": { "slug": "etfdh", "symbol": "ETFDH", "name": "electron transfer flavoprotein dehydrogenase", "hgnc": "HGNC:3483", "summary": null, "location": "4q32.1", "locusType": "gene with protein product", "aliases": [ "ETFQO" ], "previousSymbols": [], "ensemblId": "ENSG00000171503", "entrezId": 2110, "omim": [ "231675" ], "uniprot": [ "Q16134" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "4", "start": 158672296, "end": 158709623, "strand": "+", "ensemblTranscript": "ENST00000511912.6", "refseqTranscript": "NM_004453.4", "ensemblProtein": "ENSP00000426638.1", "refseqProtein": "NP_004444.2", "exons": [ { "start": 158672296, "end": 158672490 }, { "start": 158680467, "end": 158680607 }, { "start": 158682195, "end": 158682424 }, { "start": 158684592, "end": 158684673 }, { "start": 158685101, "end": 158685219 }, { "start": 158690348, "end": 158690425 }, { "start": 158695497, "end": 158695643 }, { "start": 158697559, "end": 158697699 }, { "start": 158698987, "end": 158699130 }, { "start": 158703423, "end": 158703591 }, { "start": 158706189, "end": 158706371 }, { "start": 158706629, "end": 158706850 }, { "start": 158708364, "end": 158709623 } ], "cds": { "start": 158672457, "end": 158708527 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "4", "start": 159593277, "end": 159630775, "strand": "+" }, "neighbourhood": { "release": "116", "start": 158190960, "end": 159190959, "genes": [ { "symbol": "TMEM144", "ensemblId": "ENSG00000164124", "biotype": "protein_coding", "start": 158201604, "end": 158255416, "strand": "+", "slug": "tmem144" }, { "symbol": "RXFP1", "ensemblId": "ENSG00000171509", "biotype": "protein_coding", "start": 158315311, "end": 158653372, "strand": "+", "slug": "rxfp1" }, { "symbol": "C4orf46", "ensemblId": "ENSG00000205208", "biotype": "protein_coding", "start": 158666675, "end": 158672255, "strand": "-", "slug": "c4orf46" }, { "symbol": "PPID", "ensemblId": "ENSG00000171497", "biotype": "protein_coding", "start": 158708161, "end": 158723418, "strand": "-", "slug": "ppid" }, { "symbol": "FNIP2", "ensemblId": "ENSG00000052795", "biotype": "protein_coding", "start": 158768963, "end": 158908050, "strand": "+", "slug": "fnip2" }, { "symbol": "SPMIP2", "ensemblId": "ENSG00000164123", "biotype": "protein_coding", "start": 158893134, "end": 159038760, "strand": "-", "slug": "spmip2" }, { "symbol": "RAPGEF2", "ensemblId": "ENSG00000109756", "biotype": "protein_coding", "start": 159103013, "end": 159360175, "strand": "+", "slug": "rapgef2" } ], "truncated": false }, "reports": [ { "slug": "fatty-acid-oxidation-and-carnitine-cycle-disorders", "name": "지방산 산화 및 카르니틴 회로 장애", "diseases": [ { "mondoId": "MONDO:0017713", "name": "지방산 산화 및 케톤 생성 장애", "genes": 13, "inheritance": "autosomal-recessive", "description": "MCAD, VLCAD, LCHAD, SCAD, HADH 결핍증, 원발성 카르니틴 결핍증, 카르니틴-아실카르니틴 전위효소 결핍증을 포함하는 효소 및 수송체 결함군입니다. 공복이나 질병 기간에 저혈당, 근육 손상, 심장 및 간 문제를 일으킬 수 있습니다.", "management": "이를 알면 장시간 공복을 피하고, 질병 시 대처할 응급 계획을 세울 수 있으며, 해당되는 경우 카르니틴 보충이나 식이 지방 조절을 통해 생명을 위협하는 증상을 예방할 수 있습니다.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/fatty-acid-oxidation-and-carnitine-cycle-disorders" }, { "slug": "hypertrophic-cardiomyopathy", "name": "비대성 심근병증", "diseases": [ { "mondoId": "MONDO:0005045", "name": "비대성 심근병증", "genes": 62, "inheritance": "autosomal-dominant", "description": "명확한 원인 없이 심근이 비대해지는 질환입니다. 비대는 일반적으로 비대칭적으로 나타나며, 좌심실 유출로의 폐쇄를 동반할 수 있습니다.", "management": "베타차단제, 비이드히드로피리딘계 칼슘채널차단제, 활동 제한, 유전 상담", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": true } ], "url": "https://dantelabs.com/ko/conditions/hypertrophic-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "arrhythmia", "name": "Abnormal heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/arrhythmia" }, { "slug": "abnormality-of-the-genital-system", "name": "Abnormality of the reproductive system", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/abnormality-of-the-genital-system" }, { "slug": "abnormal-pinna-morphology", "name": "Abnormally shaped ears", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/abnormal-pinna-morphology" }, { "slug": "acidosis", "name": "Acidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/acidosis" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "developmental-cataract", "name": "Clouding of the lens of the eye at birth", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/developmental-cataract" }, { "slug": "hypoglycemic-coma", "name": "Coma caused by low blood sugar", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hypoglycemic-coma" }, { "slug": "telecanthus", "name": "Corners of eye widely separated", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/telecanthus" }, { "slug": "exercise-intolerance", "name": "Decreased ability to exercise", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/exercise-intolerance" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "electron-transfer-flavoprotein-ubiquinone-oxidoreductase-defect", "name": "Electron transfer flavoprotein-ubiquinone oxidoreductase defect", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/electron-transfer-flavoprotein-ubiquinone-oxidoreductase-defect" }, { "slug": "elevated-circulating-glutaric-acid-concentration", "name": "Elevated circulating glutaric acid concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-glutaric-acid-concentration" }, { "slug": "elevated-urinary-5-hydroxyhexanoic-acid-level", "name": "Elevated urinary 5-hydroxyhexanoic acid level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/elevated-urinary-5-hydroxyhexanoic-acid-level" }, { "slug": "elevated-urine-3-methyladipic-acid-level", "name": "Elevated urine 3-methyladipic acid level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-urine-3-methyladipic-acid-level" }, { "slug": "elevated-urine-suberic-acid-level", "name": "Elevated urine suberic acid level", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-urine-suberic-acid-level" }, { "slug": "hypertrophic-cardiomyopathy", "name": "Enlarged and thickened heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/hypertrophic-cardiomyopathy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "ethylmalonic-aciduria", "name": "Ethylmalonic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/ethylmalonic-aciduria" }, { "slug": "hepatic-steatosis", "name": "Fatty infiltration of liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatic-steatosis" }, { "slug": "pachygyria", "name": "Fewer and broader ridges in brain", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/pachygyria" }, { "slug": "generalized-aminoaciduria", "name": "Generalized aminoaciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/generalized-aminoaciduria" }, { "slug": "gliosis", "name": "Gliosis", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/gliosis" }, { "slug": "glycosuria", "name": "Glucose in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/glycosuria" }, { "slug": "glutaric-aciduria", "name": "Glutaric aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/glutaric-aciduria" }, { "slug": "hepatic-periportal-necrosis", "name": "Hepatic periportal necrosis", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatic-periportal-necrosis" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "intermittent-diarrhea", "name": "Intermittent diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intermittent-diarrhea" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "methylmalonic-aciduria", "name": "Methylmalonic aciduria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/methylmalonic-aciduria" }, { "slug": "muscle-weakness", "name": "Muscle weakness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/muscle-weakness" }, { "slug": "nausea", "name": "Nausea", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/nausea" }, { "slug": "pancreatitis", "name": "Pancreatic inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pancreatitis" }, { "slug": "polycystic-kidney-dysplasia", "name": "Polycystic kidney dysplasia", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/polycystic-kidney-dysplasia" }, { "slug": "pulmonary-hypoplasia", "name": "Poorly developed lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/pulmonary-hypoplasia" }, { "slug": "proximal-tubulopathy", "name": "Proximal tubulopathy", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/proximal-tubulopathy" }, { "slug": "renal-cortical-cysts", "name": "Renal cortical cysts", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/renal-cortical-cysts" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/vomiting" }, { "slug": "wide-anterior-fontanel", "name": "Wider-than-typical soft spot of skull", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/wide-anterior-fontanel" } ], "related": [ { "slug": "acadvl", "symbol": "ACADVL", "name": "acyl-CoA dehydrogenase very long chain", "shared": 2, "url": "https://dantelabs.com/ko/genes/acadvl" }, { "slug": "etfa", "symbol": "ETFA", "name": "electron transfer flavoprotein subunit alpha", "shared": 2, "url": "https://dantelabs.com/ko/genes/etfa" }, { "slug": "etfb", "symbol": "ETFB", "name": "electron transfer flavoprotein subunit beta", "shared": 2, "url": "https://dantelabs.com/ko/genes/etfb" }, { "slug": "hadha", "symbol": "HADHA", "name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha", "shared": 2, "url": "https://dantelabs.com/ko/genes/hadha" }, { "slug": "acad9", "symbol": "ACAD9", "name": "acyl-CoA dehydrogenase family member 9", "shared": 1, "url": "https://dantelabs.com/ko/genes/acad9" }, { "slug": "acadm", "symbol": "ACADM", "name": "acyl-CoA dehydrogenase medium chain", "shared": 1, "url": "https://dantelabs.com/ko/genes/acadm" }, { "slug": "acads", "symbol": "ACADS", "name": "acyl-CoA dehydrogenase short chain", "shared": 1, "url": "https://dantelabs.com/ko/genes/acads" }, { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/actc1" }, { "slug": "alpk3", "symbol": "ALPK3", "name": "alpha kinase 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/alpk3" }, { "slug": "braf", "symbol": "BRAF", "name": "B-Raf proto-oncogene, serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/ko/genes/braf" }, { "slug": "cdkn1c", "symbol": "CDKN1C", "name": "cyclin dependent kinase inhibitor 1C", "shared": 1, "url": "https://dantelabs.com/ko/genes/cdkn1c" }, { "slug": "csrp3", "symbol": "CSRP3", "name": "cysteine and glycine rich protein 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/csrp3" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }