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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
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.
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

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
Stunkel M, Bhattarai S, Kemerley A, Stone EM, Wang K, Mullins RF, Drack AV
Ophthalmology 2015 Jan;122(1):192-9. Epub 2014 Sep 10 doi: 10.1016/j.ophtha.2014.07.037. PMID: 25217415Free PMC Article
Imhoff O, Marion V, Stoetzel C, Durand M, Holder M, Sigaudy S, Sarda P, Hamel CP, Brandt C, Dollfus H, Moulin B
Clin J Am Soc Nephrol 2011 Jan;6(1):22-9. Epub 2010 Sep 28 doi: 10.2215/CJN.03320410. PMID: 20876674Free PMC Article
Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS
Am J Med Genet A 2005 Feb 1;132A(4):352-60. doi: 10.1002/ajmg.a.30406. PMID: 15637713Free PMC Article
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

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
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
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
Stunkel M, Bhattarai S, Kemerley A, Stone EM, Wang K, Mullins RF, Drack AV
Ophthalmology 2015 Jan;122(1):192-9. Epub 2014 Sep 10 doi: 10.1016/j.ophtha.2014.07.037. PMID: 25217415Free PMC Article
Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS
Am J Med Genet A 2005 Feb 1;132A(4):352-60. doi: 10.1002/ajmg.a.30406. PMID: 15637713Free PMC Article

Therapy

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
Seidemann K, Lauten M, Gappa M, Offner G, Latta K, Ehrich JH
Pediatr Nephrol 2000 Aug;14(8-9):707-9. doi: 10.1007/pl00013421. PMID: 10955911

Prognosis

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
König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN)
Clin J Am Soc Nephrol 2017 Dec 7;12(12):1974-1983. Epub 2017 Nov 16 doi: 10.2215/CJN.01280217. PMID: 29146700Free PMC Article
Gropman AL, Adams DR
Semin Pediatr Neurol 2007 Mar;14(1):34-45. doi: 10.1016/j.spen.2006.11.007. PMID: 17331882
Pazour GJ
Curr Biol 2004 Jul 27;14(14):R575-7. doi: 10.1016/j.cub.2004.07.017. PMID: 15268880
Haim M
Acta Ophthalmol Scand Suppl 2002;(233):1-34. doi: 10.1046/j.1395-3907.2002.00001.x. PMID: 11921605

Clinical prediction guides

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
König J, Kranz B, König S, Schlingmann KP, Titieni A, Tönshoff B, Habbig S, Pape L, Häffner K, Hansen M, Büscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M; Gesellschaft für Pädiatrische Nephrologie (GPN)
Clin J Am Soc Nephrol 2017 Dec 7;12(12):1974-1983. Epub 2017 Nov 16 doi: 10.2215/CJN.01280217. PMID: 29146700Free PMC Article
Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millán JM, Mitchell GA, Deveault C, Héon E
J Med Genet 2010 Jul;47(7):453-63. Epub 2010 May 14 doi: 10.1136/jmg.2009.073205. PMID: 20472660
Gropman AL, Adams DR
Semin Pediatr Neurol 2007 Mar;14(1):34-45. doi: 10.1016/j.spen.2006.11.007. PMID: 17331882
Pazour GJ
Curr Biol 2004 Jul 27;14(14):R575-7. doi: 10.1016/j.cub.2004.07.017. PMID: 15268880

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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