{ "url": "https://dantelabs.com/ko/genes/lhcgr", "gene": { "slug": "lhcgr", "symbol": "LHCGR", "name": "luteinizing hormone/choriogonadotropin receptor", "hgnc": "HGNC:6585", "summary": null, "location": "2p16.3", "locusType": "gene with protein product", "aliases": [ "LHR", "LCGR", "LGR2", "ULG5" ], "previousSymbols": [ "HHG" ], "ensemblId": "ENSG00000138039", "entrezId": 3973, "omim": [ "152790" ], "uniprot": [ "P22888" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 48686774, "end": 48755724, "strand": "-", "ensemblTranscript": "ENST00000294954.12", "refseqTranscript": "NM_000233.4", "ensemblProtein": "ENSP00000294954.6", "refseqProtein": "NP_000224.2", "exons": [ { "start": 48686774, "end": 48688849 }, { "start": 48694224, "end": 48694304 }, { "start": 48698615, "end": 48698800 }, { "start": 48708948, "end": 48709022 }, { "start": 48713986, "end": 48714054 }, { "start": 48723456, "end": 48723533 }, { "start": 48723622, "end": 48723696 }, { "start": 48725676, "end": 48725750 }, { "start": 48729153, "end": 48729227 }, { "start": 48731227, "end": 48731298 }, { "start": 48755511, "end": 48755724 } ], "cds": { "start": 48687697, "end": 48755671 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 48859428, "end": 48982880, "strand": "-" }, "neighbourhood": { "release": "116", "start": 48221249, "end": 49221248, "genes": [ { "symbol": "FOXN2", "ensemblId": "ENSG00000170802", "biotype": "protein_coding", "start": 48314331, "end": 48379513, "strand": "+", "slug": "foxn2" }, { "symbol": "PPP1R21", "ensemblId": "ENSG00000162869", "biotype": "protein_coding", "start": 48440598, "end": 48516174, "strand": "+", "slug": "ppp1r21" }, { "symbol": "STON1", "ensemblId": "ENSG00000243244", "biotype": "protein_coding", "start": 48529376, "end": 48598922, "strand": "+", "slug": "ston1" }, { "symbol": "STON1-GTF2A1L", "ensemblId": "ENSG00000068781", "biotype": "protein_coding", "start": 48529925, "end": 48776517, "strand": "+", "slug": "ston1-gtf2a1l" }, { "symbol": "GTF2A1L", "ensemblId": "ENSG00000242441", "biotype": "protein_coding", "start": 48617798, "end": 48733148, "strand": "+", "slug": "gtf2a1l" }, { "symbol": "", "ensemblId": "ENSG00000279956", "biotype": "protein_coding", "start": 48632291, "end": 48755724, "strand": "-" }, { "symbol": "FSHR", "ensemblId": "ENSG00000170820", "biotype": "protein_coding", "start": 48962157, "end": 49154527, "strand": "-", "slug": "fshr" } ], "truncated": false }, "reports": [ { "slug": "46-xy-differences-of-sex-development", "name": "46,XY 성발달 이상 및 생식선 이형성증", "diseases": [ { "mondoId": "MONDO:0009384", "name": "Leydig 세포 저형성증", "genes": 1, "inheritance": "autosomal-recessive", "description": "LHCGR 유전자 변이에 의해 발생하는 열성 질환으로, 테스토스테론 생성이 감소하여 XY 염색체를 가진 사람에게서 남성화가 부족하게 나타납니다.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/46-xy-differences-of-sex-development" }, { "slug": "monogenic-precocious-puberty", "name": "단일유전자 성조숙증", "diseases": [ { "mondoId": "MONDO:0008303", "name": "가족성 남성 제한 성조숙증", "genes": 1, "inheritance": "autosomal-dominant", "description": "뇌 신호와 무관하게 활성화 변이인 LHCGR 변이로 남아에게 발생하는 조기 사춘기입니다. 여성 보인자에게는 영향이 없습니다.", "management": "테스토스테론 생성이나 작용을 차단하는 치료로 조기 사춘기의 진행을 늦출 수 있습니다.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/monogenic-precocious-puberty" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "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": "acne", "name": "Acne", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/acne" }, { "slug": "accelerated-skeletal-maturation", "name": "Advanced bone age", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "decreased-testicular-size", "name": "Decreased testicular size", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/decreased-testicular-size" }, { "slug": "precocious-puberty", "name": "Early onset of puberty", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/precocious-puberty" }, { "slug": "precocious-puberty-in-males", "name": "Early onset of puberty in males", "systems": [ "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/precocious-puberty-in-males" }, { "slug": "hypergonadotropic-hypogonadism", "name": "Hypergonadotropic hypogonadism", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/hypergonadotropic-hypogonadism" }, { "slug": "increased-circulating-gonadotropin-level", "name": "Increased circulating gonadotropin level", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/increased-circulating-gonadotropin-level" }, { "slug": "macroorchidism", "name": "Large testis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macroorchidism" }, { "slug": "long-penis", "name": "Long penis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/long-penis" }, { "slug": "oligozoospermia", "name": "Low sperm count", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oligozoospermia" }, { "slug": "male-infertility", "name": "Male infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/male-infertility" }, { "slug": "tall-stature", "name": "Tall stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/tall-stature" } ], "related": [], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }