| H00254 | |
| H番号 | H00254 |
| 名称 | 成長ホルモン分泌不全症; 下垂体性低身長症 |
| 概要 | Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short stature and normal body proportions caused by growth hormone deficiency. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | nt06324(H00254) GHRH-GH-IGF signaling |
| 病因遺伝子 | (IGHD1A/1B/2) GH1 [HSA:2688] [KO:K05438] (IGHD3) BTK [HSA:695] [KO:K07370] (IGHD4) GHRHR [HSA:2692] [KO:K04584] (CPHD1) POU1F1 [HSA:5449] [KO:K09363] (CPHD2) PROP1 [HSA:5626] [KO:K09327] (CPHD3) LHX3 [HSA:8022] [KO:K09374] (CPHD4) LHX4 [HSA:89884] [KO:K09374] (CPHD5) HESX1 [HSA:8820] [KO:K09354] (CPHD6) OTX2 [HSA:5015] [KO:K18490] (CPHD7/IGHD5) RNPC3 [HSA:55599] [KO:K13157] (CPHD8) ROBO1 [HSA:6091] [KO:K06753] (PD2) GHR [HSA:2690] [KO:K05080] (PHPX) SOX3 [HSA:6658] [KO:K09267] (GHDP) GHSR [HSA:2693] [KO:K04284] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ソマトロピン [DR:D02691] ソマプシタン [DR:D11194] ソムアトロゴン [DR:D10990] ゴナドレリン酢酸塩 [DR:D03267] |
| コメント | - |
| リンク | ICD-11: 5A61.0 5A61.3 ICD-10: E23.0 MeSH: D004393 OMIM: 262400 613038 262500 312000 262650 615925 618157 618160 |
| 文献 | PMID:7868072 著者 Perez Jurado LA, Argente J タイトル Molecular basis of familial growth hormone deficiency. 雑誌 Horm Res 42:189-97 (1994) DOI:10.1159/000184192 PMID:9799079 著者 Procter AM, Phillips JA 3rd, Cooper DN タイトル The molecular genetics of growth hormone deficiency. 雑誌 Hum Genet 103:255-72 (1998) DOI:10.1007/s004390050815 PMID:12201208 著者 Hayashi Y, Kamijo T, Ogawa M, Seo H タイトル Familial isolated growth hormone deficiency: genetics and pathophysiology. 雑誌 Endocr J 49:265-72 (2002) DOI:10.1507/endocrj.49.265 PMID:17965963 著者 Hernandez LM, Lee PD, Camacho-Hubner C タイトル Isolated growth hormone deficiency. 雑誌 Pituitary 10:351-7 (2007) DOI:10.1007/s11102-007-0073-3 PMID:17336732 著者 Mullis PE タイトル Genetics of growth hormone deficiency. 雑誌 Endocrinol Metab Clin North Am 36:17-36 (2007) DOI:10.1016/j.ecl.2006.11.010 PMID:8488849 (GHR) 著者 Berg MA, Argente J, Chernausek S, Gracia R, Guevara-Aguirre J, Hopp M, Perez-Jurado L, Rosenbloom A, Toledo SP, Francke U タイトル Diverse growth hormone receptor gene mutations in Laron syndrome. 雑誌 Am J Hum Genet 52:998-1005 (1993) PMID:12428212 (SOX3) 著者 Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S タイトル Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. 雑誌 Am J Hum Genet 71:1450-5 (2002) DOI:10.1086/344661 PMID:16511605 (GHSR) 著者 Pantel J, Legendre M, Cabrol S, Hilal L, Hajaji Y, Morisset S, Nivot S, Vie-Luton MP, Grouselle D, de Kerdanet M, Kadiri A, Epelbaum J, Le Bouc Y, Amselem S タイトル Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. 雑誌 J Clin Invest 116:760-8 (2006) DOI:10.1172/JCI25303 |