KEGG   DISEASE: Bardet-Biedl syndromeHelp
Entry
H00418                      Disease                                

Name
Bardet-Biedl syndrome
Description
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.
Category
Inherited metabolic disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H00418  Bardet-Biedl syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2Y  Other specified multiple developmental anomalies or syndromes
    H00418  Bardet-Biedl syndrome
BRITE hierarchy
Gene
(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) IFT74 [HSA:80173] [KO:K19679]
(BBS21) C8orf37 [HSA:157657]
Other DBs
ICD-11: LD2Y
ICD-10: Q87.8
MeSH: D020788
OMIM: 209900 617119 617406
Reference
  Authors
Katsanis N
  Title
The oligogenic properties of Bardet-Biedl syndrome.
  Journal
Hum Mol Genet 13 Spec No 1:R65-71 (2004)
DOI:10.1093/hmg/ddh092
Reference
  Authors
Zaghloul NA, Katsanis N
  Title
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
  Journal
J Clin Invest 119:428-37 (2009)
DOI:10.1172/JCI37041
Reference
  Authors
Pereiro I, Valverde D, Pineiro-Gallego T, Baiget M, Borrego S, Ayuso C, Searby C, Nishimura D
  Title
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.
  Journal
Mol Vis 16:137-43 (2010)
Reference
  Authors
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
  Title
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
  Journal
Nat Genet 40:443-8 (2008)
DOI:10.1038/ng.97
Reference
PMID:20671153 (BBS15)
  Authors
Kim SK, Shindo A, Park TJ, Oh EC, Ghosh S, Gray RS, Lewis RA, Johnson CA, Attie-Bittach T, Katsanis N, Wallingford JB
  Title
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.
  Journal
Science 329:1337-40 (2010)
DOI:10.1126/science.1191184
Reference
  Authors
Billingsley G, Vincent A, Deveault C, Heon E
  Title
Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.
  Journal
Ophthalmic Genet 33:150-4 (2012)
DOI:10.3109/13816810.2012.689411
Reference
  Authors
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
  Title
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.
  Journal
J Med Genet 49:317-21 (2012)
DOI:10.1136/jmedgenet-2012-100737
Reference
  Authors
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
  Title
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
  Journal
J Med Genet 51:132-6 (2014)
DOI:10.1136/jmedgenet-2013-101785
Reference
  Authors
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
  Title
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
  Journal
Hum Mol Genet 23:3307-15 (2014)
DOI:10.1093/hmg/ddu044
Reference
  Authors
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
  Title
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
  Journal
Am J Hum Genet 99:318-36 (2016)
DOI:10.1016/j.ajhg.2015.04.023
Reference
  Authors
Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC
  Title
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
  Journal
Hum Mol Genet 25:2283-2294 (2016)
DOI:10.1093/hmg/ddw096

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