Endocrinology · Endocrinology / Pediatric endocrinology
Bardet–Biedl syndrome
also: BBS; Laurence–Moon–Bardet–Biedl syndrome
Ciliopathy with obesity, retinal dystrophy, polydactyly, renal disease and hypogonadism.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- BBS1, BBS10, BBS11, BBS12, BBS13, BBS14, BBS15, BBS16, BBS17, BBS18, BBS19, BBS2, BBS20, BBS21, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9
- Alternative names & eponyms
- BBS; Laurence–Moon–Bardet–Biedl syndrome
Etiology & mechanism
Defective primary cilia function.
Gene(s) involved (21)
BBS1
BBS10
BBS11
BBS12
BBS13
BBS14
BBS15
BBS16
BBS17
BBS18
BBS19
BBS2
BBS20
BBS21
BBS3
BBS4
BBS5
BBS6
BBS7
BBS8
BBS9
Symptoms & signs (8)
In plain terms, someone with Bardet–Biedl syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Börjeson–Forssman–Lehmann syndrome
hypogonadism, obesity
2 shared
Borjeson–Forssman–Lehmann syndrome
hypogonadism, obesity
2 shared
Kallmann syndrome
anosmia, hypogonadism
2 shared
Kallmann syndrome with neurological involvement
anosmia, hypogonadism
2 shared
Prader–Willi syndrome
hypogonadism, obesity
2 shared
Schaaf–Yang syndrome
hypogonadism, obesity
1 shared
Abetalipoproteinemia
retinitis pigmentosa
1 shared
Alström syndrome
obesity
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
obesity
1 shared
Autoimmune polyglandular syndrome type 1
hypogonadism
Shares genes with
None.
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