KEGG DISEASE: バルデ・ビードル症候群

DISEASE: バルデ・ビードル症候群

エントリ

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

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD2Y  その他の明示された多発性の発達異常または症候群
    H00418  バルデ・ビードル症候群

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) CFAP418 [HSA:157657] [KO:K25226]
(BBS22) IFT74 [HSA:80173] [KO:K19679]

リンク

ICD-11:

LD2Y

MeSH:

D020788

OMIM:

209900 615981 600151 615982 615983 605231 615984 615985 615986 615987 615988 615989 615990 615991 615992 615993 615994 615995 615996 619471 617406 617119

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

文献

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

文献

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

文献

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

文献

PMID:15258860 (BBS3)

著者

Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC

タイトル

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

雑誌

Am J Hum Genet 75:475-84 (2004)
DOI:10.1086/423903

文献

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

文献

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

文献

PMID:10973251 (BBS6)

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

文献

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

文献

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

文献

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

文献

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

文献

PMID:16606853 (BBS11)

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

文献

PMID:17160889 (BBS12)

著者

Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H

タイトル

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

雑誌

Am J Hum Genet 80:1-11 (2007)
DOI:10.1086/510256

文献

PMID:18327255 (BBS13 BBS14)

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

文献

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

文献

PMID:22626039 (BBS16)

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

文献

PMID:22510444 (BBS17)

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

文献

PMID:24026985 (BBS18)

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

文献

PMID:24488770 (BBS19)

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

文献

PMID:25168386 (BBS20)

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

文献

PMID:27008867 (BBS21)

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

文献

PMID:27486776 (BBS22)

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

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