BBS
MCID: BRD002
MIFTS: 67

Bardet-Biedl Syndrome (BBS) malady

Neuronal, Eye, Reproductive, Endocrine, Fetal categories

Summaries for Bardet-Biedl Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Bardet-biedl syndrome is an inherited condition that affects many parts of the body. people with this condition have progressive visual impairment due to cone-rod dystrophy, extra fingers or toes (polydactyly), truncal obesity, decreased function of the male gonads (hypogonadism), kidney abnormalities, and learning difficulties. at least 14 genes are known to be associated with bardet-biedl syndrome. this condition is usually inherited in an autosomal recessive pattern. last updated: 6/10/2013

MalaCards: Bardet-Biedl Syndrome, also known as laurence-moon syndrome, is related to polydactyly and bardet-biedl syndrome 1, and has symptoms including antitragus abnormal, syndactyly of fingers/interdigital palm and upper limb polydactyly/hexadactyly. An important gene associated with Bardet-Biedl Syndrome is MKKS (McKusick-Kaufman syndrome). Affiliated tissues include brain, retina and kidney, and related mouse phenotypes are taste/olfaction and vision/eye.

Disease Ontology:8 An autosomal recessive disease that results from mutations in multiple bbs genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.

Genetics Home Reference:21 Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

Wikipedia:64 The Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

Description from OMIM:47 209900,245800

GeneReviews summary for bbs

Aliases & Classifications for Bardet-Biedl Syndrome

Sources:
21Genetics Home Reference, 10DISEASES, 49Orphanet, 47OMIM, 61UMLS, 8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 45Novoseek, 20GeneTests, 22GTR, 35MeSH, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Reproductive, Endocrine


Characteristics (Orphanet epidemiological data):

49
laurence-moon syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

bardet-biedl syndrome 8 19 43 21 10 45 61
laurence-moon syndrome 21 10 49 47 61
biedl-bardet syndrome 19 43 20 22
lmbbs 43 21
bbs 43 21
laurence moon bardet biedl syndrome 43
laurence-moon-bardet-biedl syndrome 21
laurence-moon-biedl syndrome 21
laurence moon syndrome 43
lms 21


External Ids:

Disease Ontology8 DOID:1935
MeSH35 D020788
MESH via Orphanet36 D007849
SNOMED-CT57 5619004
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 232059000
UMLS via Orphanet62 C0023138

Related Diseases for Bardet-Biedl Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Bardet-Biedl Syndrome family:

bardet-biedl syndrome 1 bardet-biedl syndrome 10
bardet-biedl syndrome 11 bardet-biedl syndrome 12
bardet-biedl syndrome 2 bardet-biedl syndrome 3
bardet-biedl syndrome 4 bardet-biedl syndrome 5
bardet-biedl syndrome 6 bardet-biedl syndrome 7
bardet-biedl syndrome 8 bardet-biedl syndrome 9
bardet-biedl syndrome 15 bardet-biedl syndrome 14
bardet-biedl syndrome 13

Diseases related to Bardet-Biedl Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 171)
idRelated DiseaseScoreTop Affiliating Genes
1polydactyly31.1ARL6, BBS2, MKS1, MKKS, TTC8, CEP290
2bardet-biedl syndrome 131.1BBS1
3bardet-biedl syndrome 1230.9BBS12
4mckusick-kaufman syndrome30.8MKKS
5laurence-moon syndrome11.0
6n syndrome11.0
7kid syndrome10.7
8char syndrome10.7
9bardet-biedl syndrome 1110.6
10bardet-biedl syndrome 210.6
11bardet-biedl syndrome 310.6
12bardet-biedl syndrome 1510.6
13hirschsprung's disease10.6
14bardet-biedl syndrome 1010.6
15bardet-biedl syndrome 410.6
16bardet-biedl syndrome 610.6
17bardet-biedl syndrome 710.6
18bardet-biedl syndrome 810.6
19bardet-biedl syndrome 910.6
20situs inversus10.5
21bardet-biedl syndrome 510.5
22bbs1-related bardet-biedl syndrome10.5
23bbs10-related bardet-biedl syndrome10.5
24bbs12-related bardet-biedl syndrome10.5
25null syndrome10.5
26retinitis pigmentosa10.5
27arl6-related bardet-biedl syndrome10.5
28mkks-related bardet-biedl syndrome10.5
29bbs7-related bardet-biedl syndrome10.5
30ttc8-related bardet-biedl syndrome10.5
31trim32-related bardet-biedl syndrome10.5
32mks1-related bardet-biedl syndrome10.5
33cep290-related bardet-biedl syndrome10.5
34wdpcp-related bardet-biedl syndrome10.5
35bardet-biedl syndrome, modifier of10.5
36bardet-biedl syndrome 1410.5
37bardet-biedl syndrome 1310.5
38strabismus10.4
39congenital hepatic fibrosis10.4
40macular dystrophy10.4
41alstrom syndrome10.4
42adult syndrome10.4
43bod syndrome10.4
44mass syndrome10.4
45bbs2-related bardet-biedl syndrome10.4
46bbs4-related bardet-biedl syndrome10.4
47bbs5-related bardet-biedl syndrome10.4
48bbs9-related bardet-biedl syndrome10.4
49sdccag8-related bardet-biedl syndrome10.4
50bardet-biedl syndrome 1, modifier of10.4

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome:



Diseases related to bardet-biedl syndrome

Clinical Features for Bardet-Biedl Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

209900,245800

Clinical synopsis from OMIM:

245800

Symptoms:

49 (show all 26)
  • antitragus abnormal
  • syndactyly of fingers/interdigital palm
  • upper limb polydactyly/hexadactyly
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • generalized obesity
  • sensorineural deafness/hearing loss
  • renal failure
  • micropenis/small penis/agenesis
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • short stature/dwarfism/nanism
  • brachycephaly/flat occiput
  • coloboma of iris
  • cataract/lens opacification
  • strabismus/squint
  • nystagmus
  • epicanthic folds
  • low set ears/posteriorly rotated ears
  • short hand/brachydactyly
  • simian crease/transverse/unique palmar crease
  • congenital hepatic fibrosis
  • congenital cardiac anomaly/malformation/cardiopathy
  • hypospadias/epispadias/bent penis
  • insulin-independent/type 2 diabetes
  • ataxia/incoordination/trouble of the equilibrium
  • hemiplegia/diplegia/hemiparesia/limb palsy

Drugs & Therapeutics for Bardet-Biedl Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Bardet-Biedl Syndrome

Drug clinical trials:

Search ClinicalTrials for Bardet-Biedl Syndrome

Search NIH Clinical Center for Bardet-Biedl Syndrome

Search CenterWatch for Bardet-Biedl Syndrome

Genetic Tests for Bardet-Biedl Syndrome

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Bardet-Biedl Syndrome:

id Genetic test Affiliating Genes
1 Bardet-biedl Syndrome20 22 WDPCP
2 Bardet-biedl Syndrome Multi-gene Panels20

Anatomical Context for Bardet-Biedl Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Bardet-Biedl Syndrome:

33
Brain, Retina, Kidney, Thyroid, Skin, Fetal brain, Fetal thyroid, Pituitary

Animal Models for Bardet-Biedl Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Bardet-Biedl Syndrome

Sources:
51PubMed
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Articles related to Bardet-Biedl Syndrome:

(show top 50)    (show all 356)
idTitleAuthorsYear
1
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, AlstrAPm syndrome and Bardet-Biedl syndrome. (23981649)
2013
2
Bardet-biedl syndrome: a rare cause of chronic kidney disease. (24426211)
2013
3
Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome. (23015189)
2013
4
Oro-dental findings in Bardet-Biedl syndrome. (22604765)
2012
5
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. (22510444)
2012
6
TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice. (22110077)
2012
7
Prevalence of Bardet-Biedl syndrome in Tunisia. (22109794)
2011
8
Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. (22022287)
2011
9
Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet-Biedl syndrome. (20966747)
2011
10
Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model. (21444805)
2011
11
Obesity control and low protein diet preserve or even improve renal functions in Bardet-Biedl syndrome: a report of two cases. (21169913)
2011
12
Day care general anaesthesia for a child with bardet-biedl syndrome. (20811609)
2010
13
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. (20498079)
2010
14
Roux-en-Y gastric bypass in an adolescent patient with Bardet-Biedl syndrome, a monogenic obesity disorder. (19847573)
2010
15
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. (20472660)
2010
16
Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders. (19367329)
2009
17
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. (19093007)
2008
18
Bardet-Biedl syndrome]. (19019343)
2008
19
Bardet-Biedl syndrome with rheumatic aortic regurgitation. (19086366)
2008
20
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. (17379567)
2007
21
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. (18032602)
2007
22
Bardet-Biedl syndrome: beyond the cilium. (17357787)
2007
23
An unusual case of Bardet-Biedl syndrome presenting with pancytopenia. (16628722)
2006
24
Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. (16909204)
2006
25
Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval. (15517396)
2005
26
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. (16170314)
2005
27
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. (15666242)
2005
28
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. (15173597)
2004
29
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. (15155861)
2004
30
Bardet-Biedl syndrome and Usher syndrome. (12876834)
2003
31
Blepharospasm in bardet-biedl syndrome: a case report. (12422076)
2002
32
The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. (12365916)
2002
33
Positional cloning of a novel gene on chromosome 16q causing Bardet- Biedl syndrome (BBS2). (11285252)
2001
34
Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity? (10211669)
1999
35
Familial pericentric inversion of chromosome 1 (p36.3q23) and Bardet-Biedl syndrome. (10353791)
1999
36
Kidney disease in Bardet-Biedl syndrome. (9509476)
1998
37
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. (9126487)
1997
38
Clinical pathology and retinal vascular structure in the Bardet-Biedl syndrome. (7880798)
1995
39
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. (8075632)
1994
40
Natural course of visual functions in the Bardet-Biedl syndrome. (8240105)
1993
41
Bardet-Biedl syndrome and cystinuria. (1462012)
1992
42
Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. (2333905)
1990
43
A family with the Bardet-Biedl syndrome and diabetes mellitus. (2730406)
1989
44
Pituitary hormone reserve in the Laurence-Moon-Bardet-Biedl syndrome. (2606035)
1989
45
Hypothalamic-pituitary dysfunction and Hirschsprung's disease in the Bardet-Biedl syndrome. (3065301)
1988
46
Visual function in Laurence-Moon-Bardet-Biedl syndrome. A survey of 26 cases. (2837047)
1987
47
Ocular and systemic manifestations of the Bardet-Biedl syndrome. (7180914)
1982
48
Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood. (576082)
1977
49
Assessment of ophthalmologic, endocrinologic and genetic findings in the Bardet-Biedl syndrome. (776244)
1975
50
The Laurence-Moon-Bardet-Biedl syndrome. (6079017)
1967

Genetic Variations for Bardet-Biedl Syndrome

Expression for genes affiliated with Bardet-Biedl Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Bardet-Biedl Syndrome

Search GEO for disease gene expression data for Bardet-Biedl Syndrome.

Pathways for genes affiliated with Bardet-Biedl Syndrome

Compounds for genes affiliated with Bardet-Biedl Syndrome

GO Terms for genes affiliated with Bardet-Biedl Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Bardet-Biedl Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BBSomeGO:03446410.5TTC8, BBS4, ARL6, BBS2, BBS5, BBS1
2cilium membraneGO:06017010.4BBS4, BBS9, BBS7, BBS1, BBS5, BBS2
3microtubule basal bodyGO:00593210.4BBS4, BBS5, BBS2, ARL6, MKS1, TTC8
4photoreceptor connecting ciliumGO:03239110.4CEP290, TTC8
5motile ciliumGO:03151410.4BBS4, BBS2, MKKS
6centrosomeGO:00581310.4BBS4, BBS7, CCDC28B, MKS1, MKKS, TTC8
7TCTN-B9D complexGO:03603810.3CEP290, MKS1
8cytoplasmGO:00573710.1BBS2, BBS5, BBS1, BBS7, BBS9, BBS4
9ciliumGO:00592910.1TTC8, BBS12, BBS10

Biological processes related to Bardet-Biedl Syndrome according to GeneCards/GeneDecks:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1pigment granule aggregation in cell centerGO:05187710.8BBS4, BBS7, MKKS
2negative regulation of appetite by leptin-mediated signaling pathwayGO:03810810.8BBS4, BBS2, MKKS
3regulation of cilium beat frequency involved in ciliary motilityGO:06029610.8BBS4, BBS2, MKKS
4nonmotile primary cilium assemblyGO:03505810.7BBS4, BBS10, BBS1, MKKS
5retina homeostasisGO:00189510.7BBS1, BBS10, BBS4
6photoreceptor cell maintenanceGO:04549410.7BBS4, BBS10, BBS1, BBS2, MKKS
7striatum developmentGO:02175610.7MKKS, BBS2, BBS4
8chaperone-mediated protein complex assemblyGO:05113110.7BBS10, BBS12, MKKS
9sensory processingGO:05089310.7TTC8, BBS4
10heart loopingGO:00194710.7BBS4, BBS7, BBS5, MKKS
11melanosome transportGO:03240210.7BBS4, BBS7, BBS5, BBS2, ARL6, MKKS
12brain morphogenesisGO:04885410.7MKKS, BBS2, BBS4
13response to stimulusGO:05089610.7BBS10, BBS9, BBS1, BBS5
14positive regulation of multicellular organism growthGO:04001810.7BBS4, BBS2, MKKS
15cilium morphogenesisGO:06027110.7BBS4, BBS7, BBS2, WDPCP, MKS1, MKKS
16cerebral cortex developmentGO:02198710.7BBS4, BBS2, MKKS
17convergent extension involved in gastrulationGO:06002710.7BBS4, MKKS
18fat cell differentiationGO:04544410.7TTC8, MKKS, TRIM32, ARL6, BBS2, BBS7
19hippocampus developmentGO:02176610.6BBS4, BBS2, MKKS
20determination of left/right symmetryGO:00736810.6BBS7, ARL6, MKKS
21cilium assemblyGO:04238410.6CCDC28B, BBS5, BBS1, BBS4, ARL6, MKS1
22visual perceptionGO:00760110.6MYO9A, MKKS, ARL6, BBS2, BBS5, BBS1
23sensory perception of smellGO:00760810.6TTC8, MKKS, BBS4
24artery smooth muscle contractionGO:01482410.6MKKS, BBS2
25negative regulation of gene expressionGO:01062910.5BBS4, BBS2, MKKS
26protein localization to organelleGO:03336510.5BBS2, BBS4
27adult behaviorGO:03053410.4BBS2, BBS4
28Golgi to plasma membrane protein transportGO:04300110.4BBS2, BBS1
29intracellular transportGO:04690710.3BBS4, MKKS
30vasodilationGO:04231110.1MKKS, BBS2

Molecular functions related to Bardet-Biedl Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055159.9CEP290, BBS10, BBS9, BBS7, BBS12, BBS1

Products for genes affiliated with Bardet-Biedl Syndrome

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Sources for Bardet-Biedl Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet