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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.
See: Feature record | Search on this feature
Polydactyly
MedGen UID:
57774
•Concept ID:
C0152427
•
Congenital Abnormality
A congenital anomaly characterized by the presence of supernumerary fingers or toes.
See: Feature record | Search on this feature
Obesity
MedGen UID:
18127
•Concept ID:
C0028754
•
Disease or Syndrome
Accumulation of substantial excess body fat.
See: Feature record | Search on this feature
Hypogonadism
MedGen UID:
5711
•Concept ID:
C0020619
•
Disease or Syndrome
A decreased functionality of the gonad.
See: Feature record | Search on this feature
Retinal disorder
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.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D
Eur J Hum Genet 2024 Nov;32(11):1347-1360. Epub 2024 Jul 31 doi: 10.1038/s41431-024-01634-7. PMID: 39085583Free PMC Article
Clinical management approaches in Bardet-Biedl syndrome.
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
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes.
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

Clinical utility gene card for: Bardet-Biedl syndrome.
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

Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.
Yu QX, Liu N, Zhen L, Lin XM, Wen YJ, Li DZ
Prenat Diagn 2024 Aug;44(9):1105-1110. Epub 2024 Jun 5 doi: 10.1002/pd.6619. PMID: 38840299
Outcomes in children of women with type 2 diabetes exposed to metformin versus placebo during pregnancy (MiTy Kids): a 24-month follow-up of the MiTy randomised controlled trial.
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
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
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
Kidney failure in Bardet-Biedl syndrome.
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
Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome.
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

Diagnosis

Delayed identification of Bardet-Biedl syndrome.
Kanitkar S, Ande SP, Shivnitwar SK, Edara M
BMJ Case Rep 2024 Nov 14;17(11) doi: 10.1136/bcr-2024-261843. PMID: 39542505
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D
Eur J Hum Genet 2024 Nov;32(11):1347-1360. Epub 2024 Jul 31 doi: 10.1038/s41431-024-01634-7. PMID: 39085583Free PMC Article
Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.
Yu QX, Liu N, Zhen L, Lin XM, Wen YJ, Li DZ
Prenat Diagn 2024 Aug;44(9):1105-1110. Epub 2024 Jun 5 doi: 10.1002/pd.6619. PMID: 38840299
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
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
Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome.
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

Therapy

Outcomes in children of women with type 2 diabetes exposed to metformin versus placebo during pregnancy (MiTy Kids): a 24-month follow-up of the MiTy randomised controlled trial.
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
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.
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
Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.
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
Renal transplantation in Bardet-Biedl Syndrome.
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
Clinical characteristics and current therapies for inherited retinal degenerations.
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

Outcomes in children of women with type 2 diabetes exposed to metformin versus placebo during pregnancy (MiTy Kids): a 24-month follow-up of the MiTy randomised controlled trial.
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
Renal features of Bardet Biedl syndrome: A single center experience.
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
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes.
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
Renal transplantation in Bardet-Biedl Syndrome.
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
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina.
Bolch SN, Dugger DR, Chong T, McDowell JH, Smith WC
PLoS One 2016;11(2):e0148773. Epub 2016 Feb 11 doi: 10.1371/journal.pone.0148773. PMID: 26867008Free PMC Article

Clinical prediction guides

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D
Eur J Hum Genet 2024 Nov;32(11):1347-1360. Epub 2024 Jul 31 doi: 10.1038/s41431-024-01634-7. PMID: 39085583Free PMC Article
Outcomes in children of women with type 2 diabetes exposed to metformin versus placebo during pregnancy (MiTy Kids): a 24-month follow-up of the MiTy randomised controlled trial.
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
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.
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
Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome.
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
Hyperphagia among patients with Bardet-Biedl syndrome.
Sherafat-Kazemzadeh R, Ivey L, Kahn SR, Sapp JC, Hicks MD, Kim RC, Krause AJ, Shomaker LB, Biesecker LG, Han JC, Yanovski JA
Pediatr Obes 2013 Oct;8(5):e64-7. Epub 2013 Jun 18 doi: 10.1111/j.2047-6310.2013.00182.x. PMID: 23776152Free PMC Article

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