| H00484 | |
| H番号 | H00484 |
| 名称 | 多発性骨癒合症症候群 |
| 概要 | Proximal symphalangism is a condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional bone fusions involving carpal, tarsal, and other joints. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06507(H00484) TGFB signaling |
| 病因遺伝子 | (SYNS1) NOG [HSA:9241] [KO:K04658] (SYNS2) GDF5 [HSA:8200] [KO:K04664] (SYNS3) FGF9 [HSA:2254] [KO:K04358] (SYNS4) GDF6 [HSA:392255] [KO:K20012] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LB90.Y ICD-10: Q78.8 MeSH: C536943 C537380 C567839 OMIM: 186500 610017 612961 617898 |
| 文献 | PMID:7428777 著者 Pedersen JC, Fryns JP, Carpentier G, Heremans G, Van den Berghe H タイトル Multiple synostosis syndrome. 雑誌 Eur J Pediatr 134:273-5 (1980) DOI:10.1007/BF00441486 PMID:10080184 (SYNS1) 著者 Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML タイトル Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. 雑誌 Nat Genet 21:302-4 (1999) DOI:10.1038/6821 PMID:16532400 (SYNS2) 著者 Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D タイトル GDF5 is a second locus for multiple-synostosis syndrome. 雑誌 Am J Hum Genet 78:708-12 (2006) DOI:10.1086/503204 PMID:19589401 (SYNS3) 著者 Wu XL, Gu MM, Huang L, Liu XS, Zhang HX, Ding XY, Xu JQ, Cui B, Wang L, Lu SY, Chen XY, Zhang HG, Huang W, Yuan WT, Yang JM, Gu Q, Fei J, Chen Z, Yuan ZM, Wang ZG タイトル Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. 雑誌 Am J Hum Genet 85:53-63 (2009) DOI:10.1016/j.ajhg.2009.06.007 PMID:26643732 (SYNS4) 著者 Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y タイトル A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal. 雑誌 J Bone Miner Res 31:882-9 (2016) DOI:10.1002/jbmr.2761 |