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Bardet-Biedl syndrome 18(BBS18)

MedGen UID:
812504
Concept ID:
C3806174
Disease or Syndrome
Synonym: BBS18
 
Gene (location): BBIP1 (10q25.2)
 
Monarch Initiative: MONDO:0014446
OMIM®: 615995

Definition

BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). [from OMIM]

Clinical features

From HPO
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Stage 5 chronic kidney disease
MedGen UID:
384526
Concept ID:
C2316810
Disease or Syndrome
A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Obesity
MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
Accumulation of substantial excess body fat.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Retinal dystrophy
MedGen UID:
208903
Concept ID:
C0854723
Finding
Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.
Rod-cone dystrophy
MedGen UID:
1632921
Concept ID:
C4551714
Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.

Professional guidelines

PubMed

Roberts KJ, Ariza AJ, Selvaraj K, Quadri M, Mangarelli C, Neault S, Davis EE, Binns HJ
Int J Obes (Lond) 2022 Aug;46(8):1493-1501. Epub 2022 May 13 doi: 10.1038/s41366-022-01139-7. PMID: 35562395Free PMC Article
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469
Mallmann MR, Reutter H, Mack-Detlefsen B, Gottschalk I, Geipel A, Berg C, Boemers TM, Gembruch U
Fetal Diagn Ther 2019;45(1):62-68. Epub 2018 Feb 23 doi: 10.1159/000486781. PMID: 29478043

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
Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):9-19. Epub 2022 Apr 4 doi: 10.1002/ajmg.c.31970. PMID: 35373910Free PMC Article
Pomeroy J, VanWormer JJ, Meilahn JR, Maki T, Murali HR, Haws RM
Orphanet J Rare Dis 2021 Jun 14;16(1):276. doi: 10.1186/s13023-021-01911-4. PMID: 34127036Free 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

Diagnosis

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
Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, Daw Elbait AAE, Mohammed ME, Ali HIH, Ahmed MMM, Mohammed NFN, Osman FHM, Mohammed MAY, Abu Shama EAE
J Med Case Rep 2022 Apr 29;16(1):169. doi: 10.1186/s13256-022-03396-6. PMID: 35484558Free PMC Article
Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):9-19. Epub 2022 Apr 4 doi: 10.1002/ajmg.c.31970. PMID: 35373910Free PMC Article
Habibullah M, Mohiuddin AA
Mymensingh Med J 2009 Jan;18(1):80-3. PMID: 19182756

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
Ates U, Ergun E, Gollu G, Sozduyar S, Can OS, Yagmurlu A
Pediatr Int 2018 May;60(5):461-466. doi: 10.1111/ped.13545. PMID: 29500869
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

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
Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):9-19. Epub 2022 Apr 4 doi: 10.1002/ajmg.c.31970. PMID: 35373910Free PMC Article
Bahmanpour Z, Daneshmandpour Y, Kazeminasab S, Khalil Khalili S, Alehabib E, Chapi M, Soosanabadi M, Darvish H, Emamalizadeh B
Int Ophthalmol 2021 Feb;41(2):389-397. Epub 2020 Sep 14 doi: 10.1007/s10792-020-01588-x. PMID: 32926352
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
Russell-Eggitt IM, Clayton PT, Coffey R, Kriss A, Taylor DS, Taylor JF
Ophthalmology 1998 Jul;105(7):1274-80. doi: 10.1016/S0161-6420(98)97033-6. PMID: 9663233

Clinical prediction guides

Forsythe E, Mallya UG, Yang M, Huber C, Cala ML, Greatsinger A, Hagopian E, Pomeroy J, Haqq AM
Orphanet J Rare Dis 2023 Jul 7;18(1):182. doi: 10.1186/s13023-023-02723-4. PMID: 37415189Free PMC Article
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
Gupta N, D'Acierno M, Zona E, Capasso G, Zacchia M
Am J Med Genet C Semin Med Genet 2022 Mar;190(1):9-19. Epub 2022 Apr 4 doi: 10.1002/ajmg.c.31970. PMID: 35373910Free PMC Article
Pomeroy J, VanWormer JJ, Meilahn JR, Maki T, Murali HR, Haws RM
Orphanet J Rare Dis 2021 Jun 14;16(1):276. doi: 10.1186/s13023-021-01911-4. PMID: 34127036Free PMC Article

Recent systematic reviews

Sonner S, Reilly K, Woolf AS, Chandler N, Kilby MD, Maher ER, Flanagan C, McKnight AJ, Mone F
Prenat Diagn 2024 Feb;44(2):187-195. Epub 2023 Dec 6 doi: 10.1002/pd.6479. PMID: 38056891

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