Bardet-Biedl syndrome (Homo sapiens)

From WikiPathways

Jump to: navigation, search
Ouside membraneAxonemeGeneric transcription pathwayTranslation factors ARNTLIFT27IFT7434, 5738, 71IFT17236, 42, 67IFT8021SCAPER59, 6644AntrogradeGene DNAIFT-B ComplexBBSome ComplexIFT-A ComplexVesiclesBasal Body?Primary Cilium65ChaperoninsARNTL39EFHC221BBS59, 40CEP1642, 31CEP290BBIP18, 15, 19, 25, 47BBS9551, 4, 63TMEM6724TRIM3222, 32FUZCRXZIC22121WDPCPTTC21B2, 27, 41Wnt signaling21C8orf3717, 58, 61BBS1IFT12250, 5621KIF7SDCCAG821Ciliopathies20, 54BBS12BBS1012, 45, 64BBS213, 33, 6416, 23DNA damage response6PTCH148BBS4TMEM10718, 43TTC85, 377, 52, 68CEP104MKS12124, 69, 70IFT14021IFT4321ARL6WDR353, 28GLI221LZTFL121WDR1935, 6221Hedgehog signaling pathwayMKKS26, 53, 64SCLT149, 60, 66GLI3SUFU2121TMEM21624DCDC2EFHC12121C21orf221C2orf71CNGB12121CNGA1CEP4121PKD12121PKD2SMOOCRLNEK121LCA5IQCB1INPP5E2121GPR161FLCN21USP9X21RAB23PKHD121PKD1L1NEK82129NPHP3INVS21EVC248EVC21ARL32130RP2PDE6D2121ARL13BMAK14ICK2146RetrogradeDYNC2LI1WDR6021WDR3421DYNC2H121TCTEX1D221?21CLUAP1IFT572121IFT5221IFT81TRAF3IP12121INVSGenes identified & linked with BBS 21LegendGene Extended genes linked with ciliopathiesGene ?Function unknownBBS710, 11, 51


Description

Bardet-Biedl Syndrome is a rare autosomal recessive genetic disorder. Most individuals carry mutations encoding for the intraflagellar transport complex, especially the BBSome complex and assembly or functional proteins within the primary cilium. These mutations lead to multisystemic ciliopathies, commonly characterized by rod-cone dystrophy, obesity, postaxial polydactyly, cognitive impairment, hypogonadotropic hypogonadism, genitourinary malformations, renal malformation and/or renal parenchymal disease. The syndrome has a prevalence of 1:125 000 to 1:160 000 in the Western hemisphere and a higher prevalence in isolated communities like Newfoundland 1:17 500 or Arabic regions 1:13 500 to 1:65 000 cases.

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Khan MA, Mohan S, Zubair M, Windpassinger C; ''Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.''; BMC Med Genet, 2016 PubMed Europe PMC Scholia
  2. Shamseldin HE, Shaheen R, Ewida N, Bubshait DK, Alkuraya H, Almardawi E, Howaidi A, Sabr Y, Abdalla EM, Alfaifi AY, Alghamdi JM, Alsagheir A, Alfares A, Morsy H, Hussein MH, Al-Muhaizea MA, Shagrani M, Al Sabban E, Salih MA, Meriki N, Khan R, Almugbel M, Qari A, Tulba M, Mahnashi M, Alhazmi K, Alsalamah AK, Nowilaty SR, Alhashem A, Hashem M, Abdulwahab F, Ibrahim N, Alshidi T, AlObeid E, Alenazi MM, Alzaidan H, Rahbeeni Z, Al-Owain M, Sogaty S, Seidahmed MZ, Alkuraya FS; ''The morbid genome of ciliopathies: an update.''; Genet Med, 2020 PubMed Europe PMC Scholia
  3. Wiens CJ, Tong Y, Esmail MA, Oh E, Gerdes JM, Wang J, Tempel W, Rattner JB, Katsanis N, Park HW, Leroux MR; ''Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling.''; J Biol Chem, 2010 PubMed Europe PMC Scholia
  4. Zhang Y, Xu M, Zhang M, Yang G, Li X; ''A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome.''; Biomed Res Int, 2021 PubMed Europe PMC Scholia
  5. Lambacher NJ, Bruel AL, van Dam TJ, Szymańska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Rivière JB, Faivre L, Attié-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE; ''TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.''; Nat Cell Biol, 2016 PubMed Europe PMC Scholia
  6. Airik R, Slaats GG, Guo Z, Weiss AC, Khan N, Ghosh A, Hurd TW, Bekker-Jensen S, Schrøder JM, Elledge SJ, Andersen JS, Kispert A, Castelli M, Boletta A, Giles RH, Hildebrandt F; ''Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling.''; J Am Soc Nephrol, 2014 PubMed Europe PMC Scholia
  7. Dilan TL, Singh RK, Saravanan T, Moye A, Goldberg AFX, Stoilov P, Ramamurthy V; ''Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons.''; Hum Mol Genet, 2018 PubMed Europe PMC Scholia
  8. Burnight ER, Wiley LA, Drack AV, Braun TA, Anfinson KR, Kaalberg EE, Halder JA, Affatigato LM, Mullins RF, Stone EM, Tucker BA; ''CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.''; Gene Ther, 2014 PubMed Europe PMC Scholia
  9. Bolch SN, Dugger DR, Chong T, McDowell JH, Smith WC; ''A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.''; PLoS One, 2016 PubMed Europe PMC Scholia
  10. Bin J, Madhavan J, Ferrini W, Mok CA, Billingsley G, Héon E; ''BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.''; Hum Mutat, 2009 PubMed Europe PMC Scholia
  11. Aleman TS, O'Neil EC, O'Connor K, Jiang YY, Aleman IA, Bennett J, Morgan JIW, Toussaint BW; ''Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.''; Ophthalmic Genet, 2021 PubMed Europe PMC Scholia
  12. Nikkhah E, Safaralizadeh R, Mohammadiasl J, Tahmasebi Birgani M, Hosseinpour Feizi MA, Golchin N; ''Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.''; Cell J, 2018 PubMed Europe PMC Scholia
  13. Fieggen K, Milligan C, Henderson B, Esterhuizen AI; ''Bardet Biedl syndrome in South Africa: A single founder mutation.''; S Afr Med J, 2016 PubMed Europe PMC Scholia
  14. Gigante ED, Taylor MR, Ivanova AA, Kahn RA, Caspary T; ''ARL13B regulates Sonic hedgehog signaling from outside primary cilia.''; Elife, 2020 PubMed Europe PMC Scholia
  15. Wu Z, Pang N, Zhang Y, Chen H, Peng Y, Fu J, Wei Q; ''CEP290 is essential for the initiation of ciliary transition zone assembly.''; PLoS Biol, 2020 PubMed Europe PMC Scholia
  16. Ting CY, Huang CY, Chen HC, Chiu YW, Hsieh PCH, Lee JJ; ''Generation of induced pluripotent stem cells from a Bardet-Biedl syndrome patient carrying a homologous BBS2 c.534 + 1G > T mutation.''; Stem Cell Res, 2021 PubMed Europe PMC Scholia
  17. Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC; ''Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).''; Hum Mol Genet, 2016 PubMed Europe PMC Scholia
  18. Kim JC, Badano JL, Sibold S, Esmail MA, Hill J, Hoskins BE, Leitch CC, Venner K, Ansley SJ, Ross AJ, Leroux MR, Katsanis N, Beales PL; ''The Bardet-Biedl protein BBS4 targetscargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.''; Nat Genet, 2004 PubMed Europe PMC Scholia
  19. Zhang Y, Seo S, Bhattarai S, Bugge K, Searby CC, Zhang Q, Drack AV, Stone EM, Sheffield VC; ''BBS mutations modify phenotypic expression of CEP290-related ciliopathies.''; Hum Mol Genet, 2014 PubMed Europe PMC Scholia
  20. Bahmanpour Z, Daneshmandpour Y, Kazeminasab S, Khalil Khalili S, Alehabib E, Chapi M, Soosanabadi M, Darvish H, Emamalizadeh B; ''A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome.''; Int Ophthalmol, 2021 PubMed Europe PMC Scholia
  21. Reiter JF, Leroux MR; ''Genes and molecular pathways underpinning ciliopathies.''; Nat Rev Mol Cell Biol, 2017 PubMed Europe PMC Scholia
  22. Ramachandran H, Schäfer T, Kim Y, Herfurth K, Hoff S, Lienkamp SS, Kramer-Zucker A, Walz G; ''Interaction with the Bardet-Biedl gene product TRIM32/BBS11 modifiesthe half-life and localization of Glis2/NPHP7.''; J Biol Chem, 2014 PubMed Europe PMC Scholia
  23. Ali G, Sadia, Foo JN, Nasir A, Chang CH, Chew EG, Latif Z, Azeem Z, Ain-Ul-Batool S, Kazmi SAR, Awan NB, Khan AH, Rehman FU, Khalid M, Wali A, Sarwar S, Akhtar W, Ahmed Abbasi A, Nisar R; ''Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation inBBS2in a Kashmiri Family with Bardet-Biedl Syndrome.''; Biomed Res Int, 2021 PubMed Europe PMC Scholia
  24. Logan CV, Abdel-Hamed Z, Johnson CA; ''Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects.''; Mol Neurobiol, 2011 PubMed Europe PMC Scholia
  25. Craige B, Tsao CC, Diener DR, Hou Y, Lechtreck KF, Rosenbaum JL, Witman GB; ''CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.''; J Cell Biol, 2010 PubMed Europe PMC Scholia
  26. Kim JC, Ou YY, Badano JL, Esmail MA, Leitch CC, Fiedrich E, Beales PL, Archibald JM, Katsanis N, Rattner JB, Leroux MR; ''MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.''; J Cell Sci, 2005 PubMed Europe PMC Scholia
  27. Saari J, Lovell MA, Yu HC, Bellus GA; ''Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.''; Am J Med Genet A, 2015 PubMed Europe PMC Scholia
  28. Gouronc A, Zilliox V, Jacquemont ML, Darcel F, Leuvrey AS, Nourisson E, Antin M, Alessandri JL, Doray B, Gueguen P, Payet F, Randrianaivo H, Stoetzel C, Scheidecker S, Flodrops H, Dollfus H, Muller J; ''High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.''; Clin Genet, 2020 PubMed Europe PMC Scholia
  29. Abeyta A, Castella M, Jacquemont C, Taniguchi T; ''NEK8 regulates DNA damage-induced RAD51 foci formation and replication fork protection.''; Cell Cycle, 2017 PubMed Europe PMC Scholia
  30. Powell L, Samarakoon YH, Ismail S, Sayer JA; ''ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses.''; Small GTPases, 2021 PubMed Europe PMC Scholia
  31. Maria M, Lamers IJ, Schmidts M, Ajmal M, Jaffar S, Ullah E, Mustafa B, Ahmad S, Nazmutdinova K, Hoskins B, van Wijk E, Koster-Kamphuis L, Khan MI, Beales PL, Cremers FP, Roepman R, Azam M, Arts HH, Qamar R; ''Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.''; Sci Rep, 2016 PubMed Europe PMC Scholia
  32. 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; ''Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).''; Proc Natl Acad Sci U S A, 2006 PubMed Europe PMC Scholia
  33. 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, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H; ''BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.''; Nat Genet, 2006 PubMed Europe PMC Scholia
  34. Eguether T, San Agustin JT, Keady BT, Jonassen JA, Liang Y, Francis R, Tobita K, Johnson CA, Abdelhamed ZA, Lo CW, Pazour GJ; ''IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.''; Dev Cell, 2014 PubMed Europe PMC Scholia
  35. Marion V, Stutzmann F, Gérard M, De Melo C, Schaefer E, Claussmann A, Hellé S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H; ''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.''; J Med Genet, 2012 PubMed Europe PMC Scholia
  36. Pruski M, Hu L, Yang C, Wang Y, Zhang JB, Zhang L, Huang Y, Rajnicek AM, St Clair D, McCaig CD, Lang B, Ding YQ; ''Roles for IFT172 and Primary Cilia in Cell Migration, Cell Division, and Neocortex Development.''; Front Cell Dev Biol, 2019 PubMed Europe PMC Scholia
  37. Shylo NA, Christopher KJ, Iglesias A, Daluiski A, Weatherbee SD; ''TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.''; Hum Mutat, 2016 PubMed Europe PMC Scholia
  38. Mardy AH, Hodoglugil U, Yip T, Slavotinek AM; ''Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74.''; Clin Genet, 2021 PubMed Europe PMC Scholia
  39. Trott AJ, Menet JS; ''Regulation of circadian clock transcriptional output by CLOCK:BMAL1.''; PLoS Genet, 2018 PubMed Europe PMC Scholia
  40. Bales KL, Bentley MR, Croyle MJ, Kesterson RA, Yoder BK, Gross AK; ''BBSome Component BBS5 Is Required for Cone Photoreceptor Protein Trafficking and Outer Segment Maintenance.''; Invest Ophthalmol Vis Sci, 2020 PubMed Europe PMC Scholia
  41. Sanchez-Navarro I, R J da Silva L, Blanco-Kelly F, Zurita O, Sanchez-Bolivar N, Villaverde C, Lopez-Molina MI, Garcia-Sandoval B, Tahsin-Swafiri S, Minguez P, Riveiro-Alvarez R, Lorda I, Sanchez-Alcudia R, Perez-Carro R, Valverde D, Liu Y, Tian L, Hakonarson H, Avila-Fernandez A, Corton M, Ayuso C; ''Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.''; Sci Rep, 2018 PubMed Europe PMC Scholia
  42. Schaefer E, Stoetzel C, Scheidecker S, Geoffroy V, Prasad MK, Redin C, Missotte I, Lacombe D, Mandel JL, Muller J, Dollfus H; ''Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.''; J Hum Genet, 2016 PubMed Europe PMC Scholia
  43. Anosov M, Birk R; ''Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis.''; Mol Genet Metab, 2019 PubMed Europe PMC Scholia
  44. Tanos BE, Yang HJ, Soni R, Wang WJ, Macaluso FP, Asara JM, Tsou MF; ''Centriole distal appendages promote membrane docking, leading to cilia initiation.''; Genes Dev, 2013 PubMed Europe PMC Scholia
  45. Pawlik B, Mir A, Iqbal H, Li Y, Nürnberg G, Becker C, Qamar R, Nürnberg P, Wollnik B; ''A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.''; Mol Syndromol, 2010 PubMed Europe PMC Scholia
  46. Chaya T, Omori Y, Kuwahara R, Furukawa T; ''ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport.''; EMBO J, 2014 PubMed Europe PMC Scholia
  47. Drivas TG, Bennett J; ''CEP290 and the primary cilium.''; Adv Exp Med Biol, 2014 PubMed Europe PMC Scholia
  48. Tobin JL, Beales PL; ''Bardet-Biedl syndrome: beyond the cilium.''; Pediatr Nephrol, 2007 PubMed Europe PMC Scholia
  49. Horiuchi K, Kogiso T, Sagawa T, Ito T, Taniai M, Miura K, Hattori M, Morisada N, Hashimoto E, Tokushige K; ''Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis.''; Intern Med, 2020 PubMed Europe PMC Scholia
  50. Young TL, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS; ''A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM.''; Am J Hum Genet, 1999 PubMed Europe PMC Scholia
  51. Chang PE, Li S, Kim HY, Lee DJ, Choi YJ, Jung HS; ''BBS7-SHH Signaling Activity Regulates Primary Cilia for Periodontal Homeostasis.''; Front Cell Dev Biol, 2021 PubMed Europe PMC Scholia
  52. Schneider S, De Cegli R, Nagarajan J, Kretschmer V, Matthiessen PA, Intartaglia D, Hotaling N, Ueffing M, Boldt K, Conte I, May-Simera HL; ''Loss of Ciliary GeneBbs8Results in Physiological Defects in the Retinal Pigment Epithelium.''; Front Cell Dev Biol, 2021 PubMed Europe PMC Scholia
  53. Goyal S, Singh IR, Vanita V; ''Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin.''; Clin Exp Ophthalmol, 2020 PubMed Europe PMC Scholia
  54. Airik R, Schueler M, Airik M, Cho J, Ulanowicz KA, Porath JD, Hurd TW, Bekker-Jensen S, Schrøder JM, Andersen JS, Hildebrandt F; ''SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling.''; PLoS One, 2016 PubMed Europe PMC Scholia
  55. Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strähle U, Nachury MV, Dollfus H; ''Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).''; J Med Genet, 2014 PubMed Europe PMC Scholia
  56. Niederlova V, Modrak M, Tsyklauri O, Huranova M, Stepanek O; ''Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes.''; Hum Mutat, 2019 PubMed Europe PMC Scholia
  57. Schaefer E, Delvallée C, Mary L, Stoetzel C, Geoffroy V, Marks-Delesalle C, Holder-Espinasse M, Ghoumid J, Dollfus H, Muller J; ''Identification and Characterization of Known Biallelic Mutations in theIFT27(BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.''; Front Genet, 2019 PubMed Europe PMC Scholia
  58. Yıldız Bölükbaşı E, Mumtaz S, Afzal M, Woehlbier U, Malik S, Tolun A; ''Homozygous mutation inCEP19,a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.''; J Med Genet, 2018 PubMed Europe PMC Scholia
  59. Jauregui R, Thomas AL, Liechty B, Velez G, Mahajan VB, Clark L, Tsang SH; ''SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.''; Am J Med Genet A, 2019 PubMed Europe PMC Scholia
  60. Morisada N, Hamada R, Miura K, Ye MJ, Nozu K, Hattori M, Iijima K; ''Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.''; CEN Case Rep, 2020 PubMed Europe PMC Scholia
  61. Sharif AS, Yu D, Loertscher S, Austin R, Nguyen K, Mathur PD, Clark AM, Zou J, Lobanova ES, Arshavsky VY, Yang J; ''C8ORF37 Is Required for Photoreceptor Outer Segment Disc Morphogenesis by Maintaining Outer Segment Membrane Protein Homeostasis.''; J Neurosci, 2018 PubMed Europe PMC Scholia
  62. Schaefer E, Lauer J, Durand M, Pelletier V, Obringer C, Claussmann A, Braun JJ, Redin C, Mathis C, Muller J, Schmidt-Mutter C, Flori E, Marion V, Stoetzel C, Dollfus H; ''Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.''; Clin Genet, 2014 PubMed Europe PMC Scholia
  63. Suárez-González J, Seidel V, Andrés-Zayas C, Izquierdo E, Buño I; ''Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.''; BMC Med Genomics, 2021 PubMed Europe PMC Scholia
  64. Álvarez-Satta M, Castro-Sánchez S, Valverde D; ''Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).''; Front Mol Biosci, 2017 PubMed Europe PMC Scholia
  65. Wang L, Dynlacht BD; ''The regulation of cilium assembly and disassembly in development and disease.''; Development, 2018 PubMed Europe PMC Scholia
  66. Wormser O, Gradstein L, Yogev Y, Perez Y, Kadir R, Goliand I, Sadka Y, El Riati S, Flusser H, Nachmias D, Birk R, Iraqi M, Kadar E, Gat R, Drabkin M, Halperin D, Horev A, Sivan S, Abdu U, Elia N, Birk OS; ''SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.''; Eur J Hum Genet, 2019 PubMed Europe PMC Scholia
  67. Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA; ''Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.''; Hum Mol Genet, 2015 PubMed Europe PMC Scholia
  68. Murphy D, Singh R, Kolandaivelu S, Ramamurthy V, Stoilov P; ''Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa.''; Mol Cell Biol, 2015 PubMed Europe PMC Scholia
  69. 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; ''Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.''; Nat Genet, 2008 PubMed Europe PMC Scholia
  70. Xing DJ, Zhang HX, Huang N, Wu KC, Huang XF, Huang F, Tong Y, Pang CP, Qu J, Jin ZB; ''Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.''; PLoS One, 2014 PubMed Europe PMC Scholia
  71. Lorès P, Kherraf ZE, Amiri-Yekta A, Whitfield M, Daneshipour A, Stouvenel L, Cazin C, Cavarocchi E, Coutton C, Llabador MA, Arnoult C, Thierry-Mieg N, Ferreux L, Patrat C, Hosseini SH, Mustapha SFB, Zouari R, Dulioust E, Ray PF, Touré A; ''A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet-Biedl syndrome.''; Hum Genet, 2021 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
134514view12:22, 22 July 2024EweitzEconomize layout
123515view16:53, 31 July 2022EgonwGeneric interaction
122917view19:11, 1 June 2022SMBachmann
122902view12:08, 31 May 2022FehrhartOntology Term : 'ciliopathy' added !
122901view12:07, 31 May 2022FehrhartOntology Term : 'disease pathway' added !
122887view17:52, 29 May 2022SMBachmann
122886view17:15, 29 May 2022SMBachmann
122885view14:50, 29 May 2022SMBachmann
122874view17:40, 27 May 2022SMBachmann
122873view17:39, 27 May 2022SMBachmann
122871view15:55, 27 May 2022SMBachmann
122859view17:23, 24 May 2022SMBachmann
122755view15:26, 10 May 2022SMBachmann
122751view09:44, 9 May 2022SMBachmann
122747view08:52, 9 May 2022SMBachmann
122744view19:35, 8 May 2022SMBachmann
122735view11:41, 7 May 2022SMBachmannModified description
122734view11:38, 7 May 2022SMBachmann
122733view11:30, 7 May 2022SMBachmannModified description
122724view19:51, 5 May 2022SMBachmann
122723view19:47, 5 May 2022SMBachmannAdditional Annotations
122722view13:05, 5 May 2022SMBachmannDeletion of BBIP1 extra comment
122721view12:59, 5 May 2022SMBachmannOntology Term : 'Bardet-Biedl syndrome' added !
122720view12:57, 5 May 2022SMBachmannModified description
122719view12:53, 5 May 2022SMBachmannNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
ARL13BGeneProductENSG00000169379 (Ensembl)
ARL3GeneProductENSG00000138175 (Ensembl)
ARL6GeneProductENSG00000113966 (Ensembl) BBS3
ARNTLProteinA0A140VKD3 (Uniprot-TrEMBL)
ARNTLGeneProductENSG00000133794 (Ensembl)
BBIP1GeneProductENSG00000214413 (Ensembl) BBS18
BBS10GeneProductENSG00000179941 (Ensembl)
BBS12GeneProductENSG00000181004 (Ensembl)
BBS1GeneProductENSG00000174483 (Ensembl)
BBS2GeneProductENSG00000125124 (Ensembl)
BBS4GeneProductENSG00000140463 (Ensembl)
BBS5GeneProductENSG00000163093 (Ensembl)
BBS7GeneProductENSG00000138686 (Ensembl)
BBS9GeneProductENSG00000122507 (Ensembl)
C21orf2GeneProductENSG00000160226 (Ensembl)
C2orf71GeneProductENSG00000179270 (Ensembl)
C8orf37GeneProductENSG00000156172 (Ensembl)
  • BBS21
  • CFAP418
CEP104GeneProductENSG00000116198 (Ensembl)
CEP164GeneProductENSG00000110274 (Ensembl)
CEP290GeneProductENSG00000198707 (Ensembl) BBS14
CEP41GeneProductENSG00000106477 (Ensembl)
CLUAP1GeneProductENSG00000103351 (Ensembl)
CNGA1GeneProductENSG00000198515 (Ensembl)
CNGB1GeneProductENSG00000070729 (Ensembl)
CRXGeneProductENSG00000105392 (Ensembl)
CiliopathiesPathwayWp4803 (WikiPathways)
DCDC2GeneProductENSG00000146038 (Ensembl)
DNA damage responsePathwayWP707 (WikiPathways)
DYNC2H1GeneProductENSG00000187240 (Ensembl)
DYNC2LI1GeneProductENSG00000138036 (Ensembl)
EFHC1GeneProductENSG00000096093 (Ensembl)
EFHC2GeneProductENSG00000183690 (Ensembl)
EVC2GeneProductENSG00000173040 (Ensembl)
EVCGeneProductENSG00000072840 (Ensembl)
FLCNGeneProductENSG00000154803 (Ensembl)
FUZGeneProductENSG00000010361 (Ensembl)
GLI2ProteinH7C1U2 (Uniprot-TrEMBL)
GLI3GeneProductENSG00000106571 (Ensembl)
GPR161GeneProductENSG00000143147 (Ensembl)
Generic transcription pathwayPathwayWp1822 (WikiPathways)
Hedgehog signaling pathwayPathwayWp47 (WikiPathways)
ICKGeneProductENSG00000112144 (Ensembl)
IFT122GeneProductENSG00000163913 (Ensembl)
IFT140GeneProductENSG00000187535 (Ensembl)
IFT172GeneProductENSG00000138002 (Ensembl) BBS20
IFT27GeneProductENSG00000100360 (Ensembl) BBS19
IFT43GeneProductENSG00000119650 (Ensembl)
IFT52GeneProductENSG00000101052 (Ensembl)
IFT57GeneProductENSG00000114446 (Ensembl)
IFT74GeneProductENSG00000096872 (Ensembl) BBS22
IFT80GeneProductENSG00000068885 (Ensembl)
IFT81GeneProductENSG00000122970 (Ensembl)
INPP5EGeneProductENSG00000148384 (Ensembl)
INVSGeneProductENSG00000119509 (Ensembl)
IQCB1GeneProductENSG00000173226 (Ensembl)
KIF7GeneProductENSG00000166813 (Ensembl)
LCA5GeneProductENSG00000135338 (Ensembl)
LZTFL1GeneProductENSG00000163818 (Ensembl) BBS17
MAKGeneProductENSG00000111837 (Ensembl)
MKKSGeneProductENSG00000125863 (Ensembl) BBS6
MKS1GeneProductENSG00000011143 (Ensembl) BBS13
NEK1GeneProductENSG00000137601 (Ensembl)
NEK8GeneProductENSG00000160602 (Ensembl)
NPHP3GeneProductENSG00000113971 (Ensembl)
OCRLGeneProductENSG00000122126 (Ensembl)
PDE6DGeneProductENSG00000156973 (Ensembl)
PKD1GeneProductENSG00000008710 (Ensembl)
PKD1L1GeneProductENSG00000158683 (Ensembl)
PKD2GeneProductENSG00000118762 (Ensembl)
PKHD1GeneProductENSG00000170927 (Ensembl)
PTCH1GeneProductENSG00000185920 (Ensembl)
RAB23GeneProductENSG00000112210 (Ensembl)
RP2GeneProductENSG00000102218 (Ensembl)
SCAPERGeneProductH3BU24 (Uniprot-TrEMBL)
SCLT1GeneProductENSG00000151466 (Ensembl)
SDCCAG8GeneProductENSG00000054282 (Ensembl) BBS16
SMOGeneProductENSG00000128602 (Ensembl)
SUFUGeneProductENSG00000107882 (Ensembl)
TCTEX1D2GeneProductENSG00000213123 (Ensembl)
TMEM107GeneProductENSG00000179029 (Ensembl)
TMEM216GeneProductENSG00000187049 (Ensembl)
TMEM67GeneProductENSG00000164953 (Ensembl)
TRAF3IP1GeneProductENSG00000204104 (Ensembl)
TRIM32GeneProductENSG00000119401 (Ensembl) BBS11
TTC21BGeneProductENSG00000123607 (Ensembl)
TTC8GeneProductENSG00000165533 (Ensembl) BBS8
Translation factors PathwayWP107 (WikiPathways)
USP9XGeneProductENSG00000124486 (Ensembl)
WDPCPGeneProductENSG00000143951 (Ensembl) BBS15
WDR19GeneProductENSG00000157796 (Ensembl)
WDR34GeneProductENSG00000119333 (Ensembl)
WDR35GeneProductENSG00000118965 (Ensembl)
WDR60GeneProductENSG00000126870 (Ensembl)
Wnt signalingPathwayWp428 (WikiPathways)
ZIC2GeneProductENSG00000043355 (Ensembl)

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5234"
Personal tools