BBS
MCID: BRD002
MIFTS: 71

Bardet-Biedl Syndrome (BBS) malady

Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Summaries for Bardet-Biedl Syndrome

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 obesity and polydactyly, and has symptoms including short hand/brachydactyly, simian crease/transverse/unique palmar crease and congenital hepatic fibrosis. An important gene associated with Bardet-Biedl Syndrome is WDPCP (WD repeat containing planar cell polarity effector). Affiliated tissues include kidney, testes and pituitary, 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:63 The Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

Description from OMIM:46 209900,245800

GeneReviews summary for bbs

Aliases & Classifications for Bardet-Biedl Syndrome

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21Genetics Home Reference, 10DISEASES, 48Orphanet, 46OMIM, 60UMLS, 8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 44Novoseek, 20GeneTests, 22GTR, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
laurence-moon syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

bardet-biedl syndrome 8 19 42 21 10 44 60
laurence-moon syndrome 21 10 48 46 60
biedl-bardet syndrome 19 42 20 22
lmbbs 42 21
bbs 42 21
laurence moon bardet biedl syndrome 42
laurence-moon-bardet-biedl syndrome 21
laurence-moon-biedl syndrome 21
laurence moon syndrome 42
lms 21


External Ids:

Disease Ontology8 DOID:1935
MeSH34 D020788
MESH via Orphanet35 D007849
SNOMED-CT56 5619004
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 232059000
UMLS via Orphanet61 C0023138

Related Diseases for Bardet-Biedl Syndrome

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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
Bbs1-Related Bardet-Biedl Syndrome Bbs2-Related Bardet-Biedl Syndrome
Arl6-Related Bardet-Biedl Syndrome Bbs4-Related Bardet-Biedl Syndrome
Bbs5-Related Bardet-Biedl Syndrome Mkks-Related Bardet-Biedl Syndrome
Bbs7-Related Bardet-Biedl Syndrome Ttc8-Related Bardet-Biedl Syndrome
Bbs9-Related Bardet-Biedl Syndrome Bbs10-Related Bardet-Biedl Syndrome
Trim32-Related Bardet-Biedl Syndrome Bbs12-Related Bardet-Biedl Syndrome
Mks1-Related Bardet-Biedl Syndrome Cep290-Related Bardet-Biedl Syndrome
Wdpcp-Related Bardet-Biedl Syndrome Sdccag8-Related Bardet-Biedl Syndrome
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 207)
idRelated DiseaseScoreTop Affiliating Genes
1obesity31.2BBS4, BBS1, BBS2, MKKS, TTC8
2polydactyly31.1BBS12, BBS1, BBS5, BBS2, ARL6, MKS1
3mckusick-kaufman syndrome30.8MKKS
4bardet-biedl syndrome 130.8BBS1
5bardet-biedl syndrome 1230.8BBS12
6retinal degeneration30.5BBS4, MKKS, CEP290
7laurence-moon syndrome11.0
8retinitis10.8
9bardet-biedl syndrome 1010.6
10bardet-biedl syndrome 1110.6
11bardet-biedl syndrome 210.6
12bardet-biedl syndrome 310.6
13bardet-biedl syndrome 410.6
14bardet-biedl syndrome 610.6
15bardet-biedl syndrome 710.6
16bardet-biedl syndrome 810.6
17bardet-biedl syndrome 910.6
18situs inversus10.5
19kidney disease10.5
20bardet-biedl syndrome 510.5
21retinitis pigmentosa10.4
22hirschsprung's disease10.4
23diabetes mellitus10.4
24arl6-related bardet-biedl syndrome10.4
25mkks-related bardet-biedl syndrome10.4
26bbs7-related bardet-biedl syndrome10.4
27ttc8-related bardet-biedl syndrome10.4
28bbs10-related bardet-biedl syndrome10.4
29trim32-related bardet-biedl syndrome10.4
30bbs12-related bardet-biedl syndrome10.4
31mks1-related bardet-biedl syndrome10.4
32cep290-related bardet-biedl syndrome10.4
33wdpcp-related bardet-biedl syndrome10.4
34bardet-biedl syndrome, modifier of10.4
35bardet-biedl syndrome 1510.4
36bardet-biedl syndrome 1410.4
37bardet-biedl syndrome 1310.4
38strabismus10.4
39congenital hepatic fibrosis10.4
40lymphopenia10.4
41alstrom syndrome10.4
42neuronitis10.4
43adult syndrome10.4
44hypertension10.4
45vaginitis10.4
46bbs1-related bardet-biedl syndrome10.4
47bbs2-related bardet-biedl syndrome10.4
48bbs4-related bardet-biedl syndrome10.4
49bbs5-related bardet-biedl syndrome10.4
50bbs9-related bardet-biedl syndrome10.4

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



Diseases related to bardet-biedl syndrome

Clinical Features for Bardet-Biedl Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

209900,245800

Clinical synopsis from OMIM:

245800

Symptoms:

48 (show all 26)
  • 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
  • low set ears/posteriorly rotated ears
  • epicanthic folds
  • 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
  • antitragus abnormal

Drugs & Therapeutics for Bardet-Biedl Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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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

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32MalaCards
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MalaCards organs/tissues related to Bardet-Biedl Syndrome:

32
Kidney, Testes, Pituitary, Eye, Brain, Retina, Thyroid, Skin

Animal Models for Bardet-Biedl Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539410.6BBS4, BBS1, BBS2, MKKS, TTC8
2MP:000539110.4CEP290, BBS4, BBS7, BBS12, BBS1, BBS2
3MP:000538210.4BBS4, BBS7, BBS1, ARL6, MKS1, MKKS
4MP:000537110.3MKKS, MKS1, BBS2, BBS1, BBS7
5MP:000536710.3BBS4, BBS12, BBS1, BBS2, MKS1, TTC8
6MP:000363110.3BBS4, BBS7, BBS12, BBS1, BBS2, ARL6
7MP:000537810.3BBS4, BBS12, BBS1, BBS2, ARL6, ARL4D
8MP:000538910.3BBS4, BBS1, BBS2, ARL6, TRIM32, MKS1
9MP:000538510.1BBS4, BBS7, BBS1, ARL6, ARL4D, MKS1
10MP:000537510.0BBS4, BBS12, BBS1, BBS2, ARL6

Publications for Bardet-Biedl Syndrome

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50PubMed
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Articles related to Bardet-Biedl Syndrome:

(show top 50)    (show all 355)
idTitleAuthorsYear
1
Choroidal neovascularization in Bardet-Biedl syndrome. (23565731)
2013
2
Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. (23900607)
2013
3
Taurodontism: A minor diagnostic criterion in Laurence-Moon/Bardet-Biedl syndromes. (23638763)
2013
4
Bardet-Biedl syndrome a rare cause of cardiomyopathy. (23942403)
2013
5
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. (23143442)
2012
6
Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. (22479622)
2012
7
Management of a 10-month-old child with a rare combination of Bardet-Biedl syndrome and ano-rectal malformation undergoing anterior sagittal ano-rectoplasty. (22002252)
2012
8
Genotype-phenotype correlations in Bardet-Biedl syndrome. (22410627)
2012
9
Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney. (21246219)
2012
10
Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings. (21980853)
2011
11
McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family. (22090721)
2011
12
Abnormal cystatin C levels in two patients with bardet-biedl syndrome. (21769262)
2011
13
Laurence Moon Bardet Biedl syndrome associated with dyslipoproteinaemia. (22480106)
2011
14
Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. (21646512)
2011
15
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. (20876674)
2011
16
Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS). (21794117)
2011
17
Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption. (21270763)
2011
18
Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10. (20827784)
2010
19
Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review. (20027412)
2009
20
Treatable fluctuating mental impairment in a patient with Bardet-Biedl syndrome. (18938027)
2009
21
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. (17322606)
2007
22
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. (17959775)
2007
23
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. (17106446)
2007
24
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (16327777)
2006
25
Atrioventricular canal defect in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536. (16912586)
2006
26
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. (16380913)
2005
27
Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. (15340663)
2004
28
Bardet-Biedl syndrome with syndrome X: a patient report. (15270411)
2004
29
Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population. (14993910)
2004
30
The oligogenic properties of Bardet-Biedl syndrome. (14976158)
2004
31
Further support for digenic inheritance in Bardet-Biedl syndrome. (12920096)
2003
32
Evaluation of complex inheritance involving the most common Bardet- Biedl syndrome locus (BBS1). (12524598)
2003
33
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. (12107442)
2002
34
Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization. (11050632)
2000
35
Rapid communication: the human FEM1B gene maps to chromosome 15q22 and is excluded as the gene for Bardet-Biedl syndrome, type 4. (10768616)
2000
36
Bardet-Biedl syndrome. (10831213)
2000
37
Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. (10187963)
1999
38
Renal vascular abnormalities in Bardet-Biedl syndrome. (10603122)
1999
39
A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. (10577922)
1999
40
Cloning of a novel C-terminal kinesin (KIFC3) that maps to human chromosome 16q13-q21 and thus is a candidate gene for Bardet-Biedl syndrome. (9782090)
1998
41
Bardet-Biedl syndrome. (9357211)
1997
42
Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease. (8818459)
1996
43
Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome. (8843177)
1996
44
A further case of Bardet-Biedl syndrome. (7628002)
1995
45
Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. (7802002)
1994
46
Renal transplantation in the Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. (1798599)
1991
47
Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome. (2096358)
1990
48
Rod-cone interactions in the ERG of a patient with Bardet-Biedl syndrome. (4042827)
1985
49
The Laurence-Moon-Bardet-Biedl syndrome: unresponsiveness to the action of testosterone, a possible mechanism. (428588)
1979
50
Laurence Moon Bardet Biedl syndrome (case report). (511834)
1979

Genetic Variations for Bardet-Biedl Syndrome

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Expression for genes affiliated with Bardet-Biedl Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Bardet-Biedl Syndrome

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GO Terms for genes affiliated with Bardet-Biedl Syndrome

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16Gene Ontology
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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:06029610.7BBS4, 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
8sensory processingGO:05089310.7TTC8, BBS4
9chaperone-mediated protein complex assemblyGO:05113110.7BBS10, BBS12, MKKS
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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet