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Bardet-Biedl syndrome 10(BBS10)

MedGen UID:
347909
Concept ID:
C1859568
Disease or Syndrome
Synonym: BBS10
 
Gene (location): BBS10 (12q21.2)
 
Monarch Initiative: MONDO:0014438
OMIM®: 615987

Definition

BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009). 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.
Renal cyst
MedGen UID:
854361
Concept ID:
C3887499
Disease or Syndrome
A fluid filled sac in 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.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
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

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

Mayer SK, Thomas J, Helms M, Kothapalli A, Cherascu I, Salesevic A, Stalter E, Wang K, Datta P, Searby C, Seo S, Hsu Y, Bhattarai S, Sheffield VC, Drack AV
Dis Model Mech 2022 Sep 1;15(9) Epub 2022 Sep 20 doi: 10.1242/dmm.049473. PMID: 36125046Free 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
Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y
Jpn J Ophthalmol 2018 Jul;62(4):458-466. Epub 2018 Apr 17 doi: 10.1007/s10384-018-0591-8. PMID: 29666954

Diagnosis

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
Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y
Jpn J Ophthalmol 2018 Jul;62(4):458-466. Epub 2018 Apr 17 doi: 10.1007/s10384-018-0591-8. PMID: 29666954
Bavaro SL, Calabrò M, Kanduc D
Immunopharmacol Immunotoxicol 2011 Jun;33(2):360-72. Epub 2010 Sep 29 doi: 10.3109/08923973.2010.518618. PMID: 20874613

Prognosis

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

Clinical prediction guides

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
Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y
Jpn J Ophthalmol 2018 Jul;62(4):458-466. Epub 2018 Apr 17 doi: 10.1007/s10384-018-0591-8. PMID: 29666954

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