| H00753 | |
| H番号 | H00753 |
| 名称 | Urofacial 症候群 |
| 概要 | The urofacial syndrome (UFS) is an autosomal recessive disorder characterized by the combination of urological problems and distorted facial expression. Failure of the urinary bladder to void in patients with UFS leads to recurrent urinary tract infection and subsequent renal failure. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (UFS1) HPSE2 [HSA:60495] [KO:K07965] (UFS2) LRIG2 [HSA:9860] [KO:K24609] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: N31.8 MeSH: C536480 OMIM: 236730 615112 |
| 文献 | PMID:21332471 著者 Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nurnberg G, Hassan SA, Rana S, Nurnberg P, Hubner CA タイトル First HPSE2 missense mutation in urofacial syndrome. 雑誌 Clin Genet 81:88-92 (2012) DOI:10.1111/j.1399-0004.2011.01649.x PMID:20560209 著者 Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY タイトル Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. 雑誌 Am J Hum Genet 86:957-62 (2010) DOI:10.1016/j.ajhg.2010.04.016 PMID:20560210 著者 Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG タイトル Mutations in HPSE2 cause urofacial syndrome. 雑誌 Am J Hum Genet 86:963-9 (2010) DOI:10.1016/j.ajhg.2010.05.006 PMID:23313374 著者 Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gulpinar O, Suer E, Soygur T, Ozcakar ZB, Yalcinkaya F, Kavaz A, Bulum B, Gucuk A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG タイトル LRIG2 mutations cause urofacial syndrome. 雑誌 Am J Hum Genet 92:259-64 (2013) DOI:10.1016/j.ajhg.2012.12.002 |