| H00418 | |
| H番号 | H00418 |
| 名称 | バルデ・ビードル症候群 |
| 概要 | Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism, polydactyly, renal dysfunction, and mental retardation. BBS is typified by clinical variability observed both within and between families, which can be explained in part by the presence of second-site modifiers. Recent findings in genetic research have suggested that the BBS phenotype is largely associated with ciliary dysfunction. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | (BBS1) BBS1 [HSA:582] [KO:K16746] (BBS2) BBS2 [HSA:583] [KO:K16747] (BBS3) ARL6 [HSA:84100] [KO:K07951] (BBS4) BBS4 [HSA:585] [KO:K16531] (BBS5) BBS5 [HSA:129880] [KO:K16748] (BBS6) MKKS [HSA:8195] [KO:K09492] (BBS7) BBS7 [HSA:55212] [KO:K16749] (BBS8) TTC8 [HSA:123016] [KO:K16781] (BBS9) BBS9 [HSA:27241] [KO:K19398] (BBS10) BBS10 [HSA:79738] [KO:K19401] (BBS11) TRIM32 [HSA:22954] [KO:K10607] (BBS12) BBS12 [HSA:166379] [KO:K19402] (BBS13) MKS1 [HSA:54903] [KO:K19332] (BBS14) CEP290 [HSA:80184] [KO:K16533] (BBS15) WDPCP [HSA:51057] [KO:K22863] (BBS16) SDCCAG8 [HSA:10806] [KO:K16488] (BBS17) LZTFL1 [HSA:54585] [KO:K19400] (BBS18) BBIP1 [HSA:92482] [KO:K19399] (BBS19) IFT27 [HSA:11020] [KO:K07934] (BBS20) IFT172 [HSA:26160] [KO:K19676] (BBS21) C8orf37 [HSA:157657] [KO:K25226] (BBS22) IFT74 [HSA:80173] [KO:K19679] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2Y ICD-10: Q87.8 MeSH: D020788 OMIM: 209900 617119 617406 619471 |
| 文献 | PMID:14976158 著者 Katsanis N タイトル The oligogenic properties of Bardet-Biedl syndrome. 雑誌 Hum Mol Genet 13 Spec No 1:R65-71 (2004) DOI:10.1093/hmg/ddh092 PMID:19252258 著者 Zaghloul NA, Katsanis N タイトル Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 雑誌 J Clin Invest 119:428-37 (2009) DOI:10.1172/JCI37041 PMID:12118255 (BBS1) 著者 Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC タイトル Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 雑誌 Nat Genet 31:435-8 (2002) DOI:10.1038/ng935 PMID:11285252 (BBS2) 著者 Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC タイトル Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 雑誌 Hum Mol Genet 10:865-74 (2001) DOI:10.1093/hmg/10.8.865 PMID:20142850 (ARL6 MMKS BBS12) 著者 Pereiro I, Valverde D, Pineiro-Gallego T, Baiget M, Borrego S, Ayuso C, Searby C, Nishimura D タイトル New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. 雑誌 Mol Vis 16:137-43 (2010) PMID:12016587 (BBS4) 著者 Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR タイトル BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. 雑誌 Am J Hum Genet 71:22-9 (2002) DOI:10.1086/341031 PMID:18203199 (BBS5) 著者 Hjortshoj TD, Gronskov K, Philp AR, Nishimura DY, Adeyemo A, Rotimi CN, Sheffield VC, Rosenberg T, Brondum-Nielsen K タイトル Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. 雑誌 Am J Med Genet A 146A:517-20 (2008) DOI:10.1002/ajmg.a.32136 PMID:10973251 (MKKS) 著者 Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR タイトル Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 雑誌 Nat Genet 26:67-70 (2000) DOI:10.1038/79201 PMID:12567324 (BBS7) 著者 Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N タイトル Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 雑誌 Am J Hum Genet 72:650-8 (2003) DOI:10.1086/368204 PMID:16308660 (BBS8) 著者 Stoetzel C, Laurier V, Faivre L, Megarbane A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H タイトル BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. 雑誌 J Hum Genet 51:81-84 (2006) DOI:10.1007/s10038-005-0320-2 PMID:16380913 (BBS9) 著者 Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC タイトル Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. 雑誌 Am J Hum Genet 77:1021-33 (2005) DOI:10.1086/498323 PMID:16582908 (BBS10) 著者 Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Megarbane A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H タイトル BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 雑誌 Nat Genet 38:521-4 (2006) DOI:10.1038/ng1771 PMID:16606853 (TRIM32) 著者 Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC タイトル Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 雑誌 Proc Natl Acad Sci U S A 103:6287-92 (2006) DOI:10.1073/pnas.0600158103 PMID:18327255 (MKS1 CEP290) 著者 Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N タイトル Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 雑誌 Nat Genet 40:443-8 (2008) DOI:10.1038/ng.97 PMID:20671153 (BBS15) 著者 Kim SK, Shindo A, Park TJ, Oh EC, Ghosh S, Gray RS, Lewis RA, Johnson CA, Attie-Bittach T, Katsanis N, Wallingford JB タイトル Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. 雑誌 Science 329:1337-40 (2010) DOI:10.1126/science.1191184 PMID:22626039 (SDCCAG8) 著者 Billingsley G, Vincent A, Deveault C, Heon E タイトル Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. 雑誌 Ophthalmic Genet 33:150-4 (2012) DOI:10.3109/13816810.2012.689411 PMID:22510444 (LZTFL1) 著者 Marion V, Stutzmann F, Gerard M, De Melo C, Schaefer E, Claussmann A, Helle S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H タイトル Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. 雑誌 J Med Genet 49:317-21 (2012) DOI:10.1136/jmedgenet-2012-100737 PMID:24026985 (BBIP1) 著者 Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strahle U, Nachury MV, Dollfus H タイトル Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). 雑誌 J Med Genet 51:132-6 (2014) DOI:10.1136/jmedgenet-2013-101785 PMID:24488770 (IFT27) 著者 Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa SA, Xiong Y, Kong S, Sun Z, Alkuraya FS タイトル IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. 雑誌 Hum Mol Genet 23:3307-15 (2014) DOI:10.1093/hmg/ddu044 PMID:27486776 (IFT74) 著者 Lindstrand A, Frangakis S, Carvalho CM, Richardson EB, McFadden KA, Willer JR, Pehlivan D, Liu P, Pediaditakis IL, Sabo A, Lewis RA, Banin E, Lupski JR, Davis EE, Katsanis N タイトル Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 雑誌 Am J Hum Genet 99:318-36 (2016) DOI:10.1016/j.ajhg.2015.04.023 PMID:27008867 (C8ORF37) 著者 Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC タイトル Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). 雑誌 Hum Mol Genet 25:2283-2294 (2016) DOI:10.1093/hmg/ddw096 PMID:25168386 (IFT172) 著者 Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Said S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA タイトル Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. 雑誌 Hum Mol Genet 24:230-42 (2015) DOI:10.1093/hmg/ddu441 |