| H00753 | |
| H number | H00753 |
| Name | Urofacial syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (UFS1) HPSE2 [HSA:60495] [KO:K07965] (UFS2) LRIG2 [HSA:9860] [KO:K24609] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: N31.8 MeSH: C536480 OMIM: 236730 615112 |
| Reference | PMID:21332471 AUTHORS 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 TITLE First HPSE2 missense mutation in urofacial syndrome. JOURNAL Clin Genet 81:88-92 (2012) DOI:10.1111/j.1399-0004.2011.01649.x PMID:20560209 AUTHORS 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 TITLE Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome. JOURNAL Am J Hum Genet 86:957-62 (2010) DOI:10.1016/j.ajhg.2010.04.016 PMID:20560210 AUTHORS 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 TITLE Mutations in HPSE2 cause urofacial syndrome. JOURNAL Am J Hum Genet 86:963-9 (2010) DOI:10.1016/j.ajhg.2010.05.006 PMID:23313374 AUTHORS 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 TITLE LRIG2 mutations cause urofacial syndrome. JOURNAL Am J Hum Genet 92:259-64 (2013) DOI:10.1016/j.ajhg.2012.12.002 |