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Bardet-Biedl syndrome 11(BBS11)

MedGen UID:
395295
Concept ID:
C1859569
Disease or Syndrome
Synonym: BBS11
 
Gene (location): TRIM32 (9q33.1)
 
Monarch Initiative: MONDO:0014439
OMIM®: 615988

Definition

Bardet-Biedl syndrome-11 (BBS11) is a pleiotropic autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal abnormalities, learning disabilities, and hypogenitalism (Chiang et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Clinical features

From HPO
Abnormality of the kidney
MedGen UID:
78593
Concept ID:
C0266292
Congenital Abnormality
An abnormality of the kidney.
Polydactyly
MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Retinopathy
MedGen UID:
11209
Concept ID:
C0035309
Disease or Syndrome
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.

Professional guidelines

PubMed

Ervin C, Norcross L, Mallya UG, Fehnel S, Mittleman RS, Webster M, Haqq AM, Haws RM
Adv Ther 2023 May;40(5):2394-2411. Epub 2023 Mar 24 doi: 10.1007/s12325-023-02443-y. PMID: 36961653Free PMC Article
Malinda RR
Eur J Hum Genet 2022 Nov;30(11):1203-1204. Epub 2022 Oct 28 doi: 10.1038/s41431-022-01187-7. PMID: 36319749Free PMC Article
Niederlova V, Modrak M, Tsyklauri O, Huranova M, Stepanek O
Hum Mutat 2019 Nov;40(11):2068-2087. Epub 2019 Jul 29 doi: 10.1002/humu.23862. PMID: 31283077

Curated

Slavotinek A, Beales P
Eur J Hum Genet 2011 Mar;19(3) Epub 2010 Dec 8 doi: 10.1038/ejhg.2010.199. PMID: 21150877Free PMC Article

Recent clinical studies

Etiology

Feig DS, Sanchez JJ, Murphy KE, Asztalos E, Zinman B, Simmons D, Haqq AM, Fantus IG, Lipscombe L, Armson A, Barrett J, Donovan L, Karanicolas P, Tobin S, Mangoff K, Klein G, Jiang Y, Tomlinson G, Hamilton J; MiTy Kids Collaborative Group
Lancet Diabetes Endocrinol 2023 Mar;11(3):191-202. Epub 2023 Feb 3 doi: 10.1016/S2213-8587(23)00004-9. PMID: 36746160
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Meyer JR, Krentz AD, Berg RL, Richardson JG, Pomeroy J, Hebbring SJ, Haws RM
Clin Genet 2022 Apr;101(4):429-441. doi: 10.1111/cge.14119. PMID: 35112343Free PMC Article
Pomeroy J, Krentz AD, Richardson JG, Berg RL, VanWormer JJ, Haws RM
Pediatr Obes 2021 Feb;16(2):e12703. Epub 2020 Jul 22 doi: 10.1111/ijpo.12703. PMID: 32700463Free PMC Article
Atmış B, Karabay-Bayazıt A, Melek E, Bişgin A, Anarat A
Turk J Pediatr 2019;61(2):186-192. doi: 10.24953/turkjped.2019.02.006. PMID: 31951329

Diagnosis

Neřoldová M, Ciara E, Slatinská J, Fraňková S, Lišková P, Kotalová R, Globinovská J, Šafaříková M, Pfeiferová L, Zůnová H, Mrázová L, Stránecký V, Vrbacká A, Fabián O, Sticová E, Skanderová D, Šperl J, Kalousová M, Zima T, Macek M, Pawlowska J, Knisely AS, Kmoch S, Jirsa M
PLoS One 2023;18(7):e0288907. Epub 2023 Jul 20 doi: 10.1371/journal.pone.0288907. PMID: 37471416Free PMC Article
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Nasser F, Kohl S, Kurtenbach A, Kempf M, Biskup S, Zuleger T, Haack TB, Weisschuh N, Stingl K, Zrenner E
Genes (Basel) 2022 Jul 8;13(7) doi: 10.3390/genes13071218. PMID: 35886001Free PMC Article
Pomeroy J, Krentz AD, Richardson JG, Berg RL, VanWormer JJ, Haws RM
Pediatr Obes 2021 Feb;16(2):e12703. Epub 2020 Jul 22 doi: 10.1111/ijpo.12703. PMID: 32700463Free PMC Article
Atmış B, Karabay-Bayazıt A, Melek E, Bişgin A, Anarat A
Turk J Pediatr 2019;61(2):186-192. doi: 10.24953/turkjped.2019.02.006. PMID: 31951329

Therapy

Feig DS, Sanchez JJ, Murphy KE, Asztalos E, Zinman B, Simmons D, Haqq AM, Fantus IG, Lipscombe L, Armson A, Barrett J, Donovan L, Karanicolas P, Tobin S, Mangoff K, Klein G, Jiang Y, Tomlinson G, Hamilton J; MiTy Kids Collaborative Group
Lancet Diabetes Endocrinol 2023 Mar;11(3):191-202. Epub 2023 Feb 3 doi: 10.1016/S2213-8587(23)00004-9. PMID: 36746160
Forsythe E, Haws RM, Argente J, Beales P, Martos-Moreno GÁ, Dollfus H, Chirila C, Gnanasakthy A, Buckley BC, Mallya UG, Clément K, Haqq AM
Orphanet J Rare Dis 2023 Jan 16;18(1):12. doi: 10.1186/s13023-022-02602-4. PMID: 36647077Free PMC Article
Haqq AM, Chung WK, Dollfus H, Haws RM, Martos-Moreno GÁ, Poitou C, Yanovski JA, Mittleman RS, Yuan G, Forsythe E, Clément K, Argente J
Lancet Diabetes Endocrinol 2022 Dec;10(12):859-868. Epub 2022 Nov 7 doi: 10.1016/S2213-8587(22)00277-7. PMID: 36356613Free PMC Article
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600
Sahel JA, Marazova K, Audo I
Cold Spring Harb Perspect Med 2014 Oct 16;5(2):a017111. doi: 10.1101/cshperspect.a017111. PMID: 25324231Free PMC Article

Prognosis

Feig DS, Sanchez JJ, Murphy KE, Asztalos E, Zinman B, Simmons D, Haqq AM, Fantus IG, Lipscombe L, Armson A, Barrett J, Donovan L, Karanicolas P, Tobin S, Mangoff K, Klein G, Jiang Y, Tomlinson G, Hamilton J; MiTy Kids Collaborative Group
Lancet Diabetes Endocrinol 2023 Mar;11(3):191-202. Epub 2023 Feb 3 doi: 10.1016/S2213-8587(23)00004-9. PMID: 36746160
Atmış B, Karabay-Bayazıt A, Melek E, Bişgin A, Anarat A
Turk J Pediatr 2019;61(2):186-192. doi: 10.24953/turkjped.2019.02.006. PMID: 31951329
Niederlova V, Modrak M, Tsyklauri O, Huranova M, Stepanek O
Hum Mutat 2019 Nov;40(11):2068-2087. Epub 2019 Jul 29 doi: 10.1002/humu.23862. PMID: 31283077
Haws RM, Joshi A, Shah SA, Alkandari O, Turman MA
Pediatr Nephrol 2016 Nov;31(11):2153-61. Epub 2016 Jun 1 doi: 10.1007/s00467-016-3415-4. PMID: 27245600
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
Am J Hum Genet 2007 Jan;80(1):1-11. Epub 2006 Nov 15 doi: 10.1086/510256. PMID: 17160889Free PMC Article

Clinical prediction guides

Feig DS, Sanchez JJ, Murphy KE, Asztalos E, Zinman B, Simmons D, Haqq AM, Fantus IG, Lipscombe L, Armson A, Barrett J, Donovan L, Karanicolas P, Tobin S, Mangoff K, Klein G, Jiang Y, Tomlinson G, Hamilton J; MiTy Kids Collaborative Group
Lancet Diabetes Endocrinol 2023 Mar;11(3):191-202. Epub 2023 Feb 3 doi: 10.1016/S2213-8587(23)00004-9. PMID: 36746160
Nasser F, Kohl S, Kurtenbach A, Kempf M, Biskup S, Zuleger T, Haack TB, Weisschuh N, Stingl K, Zrenner E
Genes (Basel) 2022 Jul 8;13(7) doi: 10.3390/genes13071218. PMID: 35886001Free PMC Article
Parameswarappa DC, Das AV, Thakur PS, Takkar B, Multani PK, Padhy SK, Doctor MB, Agarwal K, Jalali S
Indian J Ophthalmol 2022 Jul;70(7):2533-2538. doi: 10.4103/ijo.IJO_2268_21. PMID: 35791150Free PMC Article
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Pomeroy J, Krentz AD, Richardson JG, Berg RL, VanWormer JJ, Haws RM
Pediatr Obes 2021 Feb;16(2):e12703. Epub 2020 Jul 22 doi: 10.1111/ijpo.12703. PMID: 32700463Free PMC Article

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