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Bardet-Biedl syndrome 14(BBS14)

MedGen UID:
393033
Concept ID:
C2673874
Disease or Syndrome
Synonym: BBS14
 
Genes (locations): CEP290 (12q21.32); TMEM67 (8q22.1)
 
Monarch Initiative: MONDO:0014442
OMIM®: 615991

Definition

Bardet-Biedl syndrome-14 (BBS14) is an autosomal recessive ciliopathy with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008). 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.
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.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
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

Deng L, Liu Y, Yuan M, Meng M, Yang Y, Sun L
Clin Chim Acta 2022 Mar 1;528:16-28. Epub 2022 Jan 20 doi: 10.1016/j.cca.2022.01.012. PMID: 35065907
Kiess W, Reich A, Müller G, Galler A, Kapellen T, Raile K, Böttner A, Seidel B, Kratzsch J
J Pediatr Endocrinol Metab 2001;14 Suppl 6:1431-40. PMID: 11837496

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

Mifsud F, Chalopin S, Guillon E, Faucher P, Muller J, Le Bihan J, Clément K, Poitou C
Obesity (Silver Spring) 2025 Oct;33(10):1865-1872. Epub 2025 Sep 2 doi: 10.1002/oby.70002. PMID: 40897637
Harvengt J, Hannon M, Palmeira L, Lebrethon MC, Dideberg V, Bours V
Front Endocrinol (Lausanne) 2025;16:1608398. Epub 2025 Aug 1 doi: 10.3389/fendo.2025.1608398. PMID: 40822950Free 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
Gantz MG, Driscoll DJ, Miller JL, Duis JB, Butler MG, Gourash L, Forster J, Scheimann AO
Obesity (Silver Spring) 2022 May;30(5):973-981. Epub 2022 Apr 13 doi: 10.1002/oby.23385. PMID: 35416416
Sapp JC, Nishimura D, Johnston JJ, Stone EM, Héon E, Sheffield VC, Biesecker LG
Genet Med 2010 Oct;12(10):623-7. doi: 10.1097/GIM.0b013e3181f07572. PMID: 20949666Free PMC Article

Diagnosis

Nawaz H, Mujahid, Khan SA, Bibi F, Waqas A, Bari A, Fardous, Khan N, Muhammad N, Khan A, Paracha SA, Alam Q, Kamal MA, Rafeeq MM, Muhammad N, Haq FU, Khan S, Mahmood A, Khan S, Umair M
Genes (Basel) 2023 May 19;14(5) doi: 10.3390/genes14051113. PMID: 37239474Free 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
Oliaei F, Narimani H
Iran J Kidney Dis 2020 Mar;14(2):157-159. PMID: 32165602
Kenny J, Forsythe E, Beales P, Bacchelli C
Per Med 2017 Sep;14(5):447-456. Epub 2017 Sep 4 doi: 10.2217/pme-2017-0019. PMID: 29754569
Putoux A, Attie-Bitach T, Martinovic J, Gubler MC
Pediatr Nephrol 2012 Jan;27(1):7-15. Epub 2011 Jan 19 doi: 10.1007/s00467-010-1751-3. PMID: 21246219

Therapy

Hühne T, Polichronidou IM, Finkelberg I, Brensing P, Jaegers J, Dinkelbach L, Kiewert C, Galetzka W, Huessler EM, Scherer T, Bökenkamp A, Gäckler A, Pape L, Cetiner M
J Clin Endocrinol Metab 2026 Feb 20;111(3):721-733. doi: 10.1210/clinem/dgaf483. PMID: 40903014
Mifsud F, Chalopin S, Guillon E, Faucher P, Muller J, Le Bihan J, Clément K, Poitou C
Obesity (Silver Spring) 2025 Oct;33(10):1865-1872. Epub 2025 Sep 2 doi: 10.1002/oby.70002. PMID: 40897637
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
Kishlyansky D, Kline G
BMJ Case Rep 2021 Sep 3;14(9) doi: 10.1136/bcr-2021-245018. PMID: 34479901Free PMC Article
Kaur P, Chaudhry C, Neelam H, Panigrahi I
BMJ Case Rep 2021 Jan 28;14(1) doi: 10.1136/bcr-2020-236325. PMID: 33509858Free PMC Article

Prognosis

Feizabadi MH, Alerasool M, Eslahi A, Esmaeilzadeh E, Mehrjardi MYV, Saket M, Farokhi S, Fattahi Z, Khorshid HRK, Mojarrad M
Biochem Genet 2025 Feb;63(1):22-42. Epub 2024 Feb 26 doi: 10.1007/s10528-023-10637-w. PMID: 38407766
Rao AR, Nazir A, Imtiaz S, Paracha SA, Waryah YM, Ujjan ID, Anwar I, Iqbal A, Santoni FA, Shah I, Gul K, Baig HMA, Waryah AM, Antonarakis SE, Ansar M
Genes (Basel) 2023 Feb 3;14(2) doi: 10.3390/genes14020404. PMID: 36833331Free PMC Article
Deng L, Liu Y, Yuan M, Meng M, Yang Y, Sun L
Clin Chim Acta 2022 Mar 1;528:16-28. Epub 2022 Jan 20 doi: 10.1016/j.cca.2022.01.012. PMID: 35065907
Grudzinska Pechhacker MK, Jacobson SG, Drack AV, Scipio MD, Strubbe I, Pfeifer W, Duncan JL, Dollfus H, Goetz N, Muller J, Vincent AL, Aleman TS, Tumber A, Van Cauwenbergh C, De Baere E, Bedoukian E, Leroy BP, Maynes JT, Munier FL, Tavares E, Saleh E, Vincent A, Heon E
Invest Ophthalmol Vis Sci 2021 Dec 1;62(15):26. doi: 10.1167/iovs.62.15.26. PMID: 34940782Free PMC Article
Torrefranca AB, Santiago APD, Lingao MD, Racoma MJC
Ophthalmic Genet 2020 Dec;41(6):621-624. Epub 2020 Aug 19 doi: 10.1080/13816810.2020.1810282. PMID: 32811249

Clinical prediction guides

Waszczykowska A, Jeziorny K, Barańska D, Matera K, Pyziak-Skupien A, Ciborowski M, Zmysłowska A
Genes (Basel) 2023 Sep 10;14(9) doi: 10.3390/genes14091784. PMID: 37761924Free PMC Article
Zhong J, Xie Y, Ye H, Chen C, Sun T, Xu K, Zhang X, Li Y
Eye (Lond) 2023 Nov;37(16):3398-3405. Epub 2023 Apr 8 doi: 10.1038/s41433-023-02516-w. PMID: 37031301Free PMC Article
Rao AR, Nazir A, Imtiaz S, Paracha SA, Waryah YM, Ujjan ID, Anwar I, Iqbal A, Santoni FA, Shah I, Gul K, Baig HMA, Waryah AM, Antonarakis SE, Ansar M
Genes (Basel) 2023 Feb 3;14(2) doi: 10.3390/genes14020404. PMID: 36833331Free 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
Vila Real D, Nogueira R, Sá J, Godinho C
BMJ Case Rep 2021 Jan 8;14(1) doi: 10.1136/bcr-2020-238445. PMID: 33419754Free PMC Article

Recent systematic reviews

Deng L, Liu Y, Yuan M, Meng M, Yang Y, Sun L
Clin Chim Acta 2022 Mar 1;528:16-28. Epub 2022 Jan 20 doi: 10.1016/j.cca.2022.01.012. PMID: 35065907

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