BBS
MCID: BRD002
MIFTS: 73

Bardet-Biedl Syndrome (BBS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Endocrine diseases, Fetal diseases, Nephrological diseases categories
Download this MalaCard

Summaries for Bardet-Biedl Syndrome

About this section


Fully expand this MalaCard
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: 6/27/2014

MalaCards based summary: Bardet-Biedl Syndrome, also known as laurence-moon syndrome, is related to bardet-biedl syndrome 1 and bardet-biedl syndrome 4, 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 ARL6 (ADP-ribosylation factor-like 6). Affiliated tissues include kidney, testes and pituitary, and related mouse phenotypes are adipose tissue and taste/olfaction.

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

Descriptions from OMIM:46 209900,245800

GeneReviews summary for bbs

Aliases & Classifications for Bardet-Biedl Syndrome

About this section
Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 62UMLS, 48Orphanet, 46OMIM, 20GeneTests, 22GTR, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Bardet-Biedl Syndrome, Aliases & Descriptions:

Name: Bardet-Biedl Syndrome 8 19 42 21 10 44 62
Laurence-Moon Syndrome 21 10 48 46 62
Biedl-Bardet Syndrome 19 42 20 22
Laurence-Moon-Bardet-Biedl Syndrome 21 62
Laurence-Moon-Biedl Syndrome 21 62
 
Lmbbs 42 21
Bbs 42 21
Laurence Moon Bardet Biedl Syndrome 42
Laurence Moon Syndrome 42
Lms 21


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:1935
MeSH34 D020788
SNOMED-CT57 5619004
MESH via Orphanet35 D007849
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0023138

Related Diseases for Bardet-Biedl Syndrome

About this section

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 16 Bardet-Biedl Syndrome 15
Bardet-Biedl Syndrome 17 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 14 Bardet-Biedl Syndrome 13
Bardet-Biedl Syndrome 19

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

(show top 50)    (show all 216)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome 132.0BBS1
2bardet-biedl syndrome 431.8BBS4
3bardet-biedl syndrome 331.8ARL6
4bardet-biedl syndrome 631.8MKKS
5bardet-biedl syndrome 731.7BBS7
6bardet-biedl syndrome 931.7BBS9
7bardet-biedl syndrome 1031.7BBS10
8bardet-biedl syndrome 531.7BBS5
9bardet-biedl syndrome 831.7TTC8
10obesity31.6MKKS, TTC8, BBS2, BBS4, BBS1
11bardet-biedl syndrome 1131.6TRIM32
12bardet-biedl syndrome 1331.5MKS1
13bardet-biedl syndrome 1531.5WDPCP
14mckusick-kaufman syndrome31.5MKKS
15bardet-biedl syndrome 1431.5CEP290
16bardet-biedl syndrome 1731.4LZTFL1
17retinal degeneration31.2BBS4, CEP290, MKKS
18polydactyly30.8BBS12, BBS10, BBS4, BBS7, BBS1, ARL6
19cystic kidney30.7MKS1, CEP290
20retinitis10.9
21laurence-moon syndrome10.8
22bardet-biedl syndrome 210.7
23kidney disease10.6
24bardet-biedl syndrome 1210.6
25bardet-biedl syndrome 1, modifier of10.6
26situs inversus10.6
27diabetes mellitus10.5
28retinitis pigmentosa10.5
29hirschsprung's disease10.5
30strabismus10.5
31congenital hepatic fibrosis10.5
32macular dystrophy10.5
33lymphopenia10.4
34hypertension10.4
35neuronitis10.4
36vaginitis10.4
37bbs1-related bardet-biedl syndrome10.4
38bbs2-related bardet-biedl syndrome10.4
39arl6-related bardet-biedl syndrome10.4
40bbs4-related bardet-biedl syndrome10.4
41bbs5-related bardet-biedl syndrome10.4
42mkks-related bardet-biedl syndrome10.4
43bbs7-related bardet-biedl syndrome10.4
44ttc8-related bardet-biedl syndrome10.4
45bbs9-related bardet-biedl syndrome10.4
46bbs10-related bardet-biedl syndrome10.4
47trim32-related bardet-biedl syndrome10.4
48bbs12-related bardet-biedl syndrome10.4
49mks1-related bardet-biedl syndrome10.4
50cep290-related bardet-biedl syndrome10.4

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



Diseases related to bardet-biedl syndrome

Symptoms for Bardet-Biedl Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

245800

Clinical features from OMIM:

209900,245800

Symptoms:

48 (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

HPO human phenotypes related to Bardet-Biedl Syndrome:

(show all 35)
id Description Frequency HPO Source Accession
1 hand polydactyly hallmark (90%) HP:0001161
2 obesity hallmark (90%) HP:0001513
3 finger syndactyly hallmark (90%) HP:0006101
4 abnormality of the antitragus hallmark (90%) HP:0009896
5 cognitive impairment hallmark (90%) HP:0100543
6 cryptorchidism typical (50%) HP:0000028
7 renal insufficiency typical (50%) HP:0000083
8 sensorineural hearing impairment typical (50%) HP:0000407
9 short stature typical (50%) HP:0004322
10 hypoplasia of penis typical (50%) HP:0008736
11 epicanthus occasional (7.5%) HP:0000286
12 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
13 strabismus occasional (7.5%) HP:0000486
14 cataract occasional (7.5%) HP:0000518
15 iris coloboma occasional (7.5%) HP:0000612
16 nystagmus occasional (7.5%) HP:0000639
17 single transverse palmar crease occasional (7.5%) HP:0000954
18 brachydactyly syndrome occasional (7.5%) HP:0001156
19 incoordination occasional (7.5%) HP:0002311
20 malformation of the heart and great vessels occasional (7.5%) HP:0002564
21 congenital hepatic fibrosis occasional (7.5%) HP:0002612
22 abnormality of calvarial morphology occasional (7.5%) HP:0002648
23 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
24 type ii diabetes mellitus occasional (7.5%) HP:0005978
25 displacement of the external urethral meatus occasional (7.5%) HP:0100627
26 autosomal recessive inheritance HP:0000007
27 scrotal hypoplasia HP:0000046
28 micropenis HP:0000054
29 pigmentary retinopathy HP:0000580
30 nystagmus HP:0000639
31 abnormality of the hand HP:0001155
32 intellectual disability HP:0001249
33 ataxia HP:0001251
34 spastic paraplegia HP:0001258
35 short stature HP:0004322

Drugs & Therapeutics for Bardet-Biedl Syndrome

About this section

Drug clinical trials:

Search ClinicalTrials for Bardet-Biedl Syndrome

Search NIH Clinical Center for Bardet-Biedl Syndrome

Genetic Tests for Bardet-Biedl Syndrome

About this section

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

About this section

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

About this section

Publications for Bardet-Biedl Syndrome

About this section

Articles related to Bardet-Biedl Syndrome:

(show top 50)    (show all 367)
idTitleAuthorsYear
1
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. (25168386)
2014
2
Multifocal electroretinogram contributes to differentiation of various clinical pictures within a family with Bardet-Biedl syndrome. (24993321)
2014
3
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. (24608809)
2014
4
Report of four cases of Bardet-Biedl syndrome. (25055367)
2014
5
Choroidal neovascularization in Bardet-Biedl syndrome. (23565731)
2013
6
Hyperphagia among patients with Bardet-Biedl syndrome. (23776152)
2013
7
Bardet-Biedl syndrome, the ciliopathy model and the importance of renal involvement. (24089167)
2013
8
Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. (23900607)
2013
9
Bardet-Biedl syndrome with seizures -a rare association. (24772752)
2013
10
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. (23143442)
2012
11
Prevalence of Bardet-Biedl syndrome in Tunisia. (22109794)
2011
12
Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. (22022287)
2011
13
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. (22139371)
2011
14
Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings. (21980853)
2011
15
Prenatal diagnosis of McKusick-Kaufman/Bardet-Biedl syndrome. (22699466)
2011
16
Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome. (21204204)
2011
17
The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. (20603001)
2010
18
Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes. (20120035)
2010
19
Laurence Moon Bardet Biedl Syndrome. (19377420)
2009
20
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. (19093007)
2008
21
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. (18443298)
2008
22
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. (17980398)
2008
23
Retinal dysfunction in carriers of bardet-biedl syndrome. (17896315)
2007
24
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. (17379567)
2007
25
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. (17322606)
2007
26
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. (17003356)
2006
27
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). (16606853)
2006
28
Comparative genomic analysis identifies an ADP-ribosylation factor- like gene as the cause of Bardet-Biedl Syndrome (BBS3). (15258860)
2004
29
Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. (15340663)
2004
30
Bilateral spontaneous quadriceps tendon ruptures in a patient with Bardet-Biedl syndrome. (15553939)
2004
31
Orthopaedic manifestations of Bardet-Biedl syndrome. (14676542)
2004
32
Further support for digenic inheritance in Bardet-Biedl syndrome. (12920096)
2003
33
Acute poststreptococcal glomerulonephritis in a child with Bardet-Biedl syndrome. (11793138)
2002
34
Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome. (11196121)
1999
35
Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. (10187963)
1999
36
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. (10577921)
1999
37
Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity? (10211669)
1999
38
Laurence-Moon-Bardet-Biedl syndrome. Clinical, electrophysiological and genetic aspects. (9645236)
1998
39
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. (9714014)
1998
40
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. (9134546)
1997
41
Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome. (8667262)
1996
42
The cause of death in Laurence-Moon-Bardet-Biedl syndrome. (8741118)
1996
43
Clinical features of Bardet-Biedl syndrome. (7793264)
1995
44
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. (8075632)
1994
45
Clinical aspects of renal involvement in Bardet-Biedl syndrome. (8270381)
1993
46
Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. (2333905)
1990
47
High incidence of Bardet Biedl syndrome among the Bedouin. (2591073)
1989
48
Bardet-Biedl syndrome and related disorders. (7065946)
1982
49
Hepatic involvement in the Bardet-Biedl syndrome. (7158637)
1982
50
Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood. (576082)
1977

Variations for Bardet-Biedl Syndrome

About this section

Clinvar genetic disease variations for Bardet-Biedl Syndrome:

6 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1BBS1NM_024649.4(BBS1): c.700G> A (p.Glu234Lys)single nucleotide variantPathogenicrs35520756GRCh37Chr 11, 66287196: 66287196
2BBIP1NM_001195306.1(BBIP1): c.173T> G (p.Leu58Ter)single nucleotide variantPathogenicrs515726134GRCh38Chr 10, 110900466: 110900466
3LZTFL1NM_001276378.1(LZTFL1): c.209T> C (p.Leu70Pro)single nucleotide variantPathogenicrs515726135GRCh37Chr 3, 45877145: 45877145
4LZTFL1NM_001276378.1(LZTFL1): c.727G> T (p.Glu243Ter)single nucleotide variantPathogenicrs515726136GRCh38Chr 3, 45827459: 45827459
5MKKSNM_170784.2(MKKS): c.431_441delTTAGTAGTACT (p.Phe144Serfs)deletionPathogenicrs113994195GRCh37Chr 20, 10393722: 10393732
6MKKSNM_170784.2(MKKS): c.876_877insCCTG (p.Cys293Profs)insertionPathogenicrs113994196GRCh37Chr 20, 10393286: 10393287
7NM_024649.4(BBS1): c.1340-2A> Gsingle nucleotide variantPathogenicrs113994180GRCh37Chr 11, 66297288: 66297288
8NM_024649.4(BBS1): c.831-3C> Gsingle nucleotide variantPathogenicrs113994179GRCh37Chr 11, 66290924: 66290924
9BBS1NM_024649.4: c.-3_37del40deletionPathogenicrs113994178GRCh37Chr 11, 66278128: 66278167
10BBS4NM_033028.4(BBS4): c.220+1G> Csingle nucleotide variantPathogenicrs113994190GRCh37Chr 15, 73004649: 73004649
11BBS4NM_033028.4(BBS4): c.406-2A> Csingle nucleotide variantPathogenicrs113994191GRCh37Chr 15, 73015133: 73015133
12ARL6NM_032146.4(ARL6): c.272T> C (p.Ile91Thr)single nucleotide variantPathogenicrs137854907GRCh37Chr 3, 97503816: 97503816
13BBS12NM_001178007.1(BBS12): c.323C> G (p.Pro108Arg)single nucleotide variantPathogenicrs151344630GRCh37Chr 4, 123663370: 123663370
14BBS5NM_152384.2(BBS5): c.413G> A (p.Arg138His)single nucleotide variantPathogenicrs179363897GRCh37Chr 2, 170349410: 170349410
15BBS4BBS4: c.77-220deldeletionPathogenicrs113994189GRCh37Chr 15, 73001821: 73001821
16NM_033028.4(BBS4): c.157-2A> Gsingle nucleotide variantPathogenicrs113994192GRCh37Chr 15, 73004583: 73004583

Expression for genes affiliated with Bardet-Biedl Syndrome

About this section
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

About this section

Compounds for genes affiliated with Bardet-Biedl Syndrome

About this section

GO Terms for genes affiliated with Bardet-Biedl Syndrome

About this section

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1axonemeGO:00593010.2ARL6, WDPCP
2motile ciliumGO:03151410.0MKKS, BBS2, BBS4
3TCTN-B9D complexGO:03603810.0CEP290, MKS1
4ciliumGO:0059299.9BBS10, BBS12, BBIP1, TTC8
5microtubule organizing centerGO:0058159.8MCPH1, BBS1, BBS9
6photoreceptor connecting ciliumGO:0323919.7CEP290, TTC8
7ciliary basal bodyGO:0360649.7MKS1, TTC8, BBS5, BBS2, BBS4
8ciliary membraneGO:0601709.3TTC8, BBS5, BBS2, BBS4, BBS7, BBS1
9centrosomeGO:0058139.2MKKS, MKS1, TTC8, CEP290, CCDC28B, BBS4
10BBSomeGO:0344649.1ARL6, TTC8, BBS9, BBS1, BBS7, BBS4
11cytoplasmGO:0057377.5BBS5, CCDC28B, CEP290, MCPH1, TTC8, MKS1

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1convergent extension involved in gastrulationGO:06002710.4BBS4, MKKS
2sensory processingGO:05089310.4TTC8, BBS4
3negative regulation of appetite by leptin-mediated signaling pathwayGO:03810810.3MKKS, BBS2, BBS4
4pigment granule aggregation in cell centerGO:05187710.3MKKS, BBS4, BBS7
5regulation of cilium beat frequency involved in ciliary motilityGO:06029610.3BBS4, BBS2, MKKS
6striatum developmentGO:02175610.3MKKS, BBS2, BBS4
7chaperone-mediated protein complex assemblyGO:05113110.3BBS10, BBS12, MKKS
8brain morphogenesisGO:04885410.3BBS4, BBS2, MKKS
9artery smooth muscle contractionGO:01482410.3BBS2, MKKS
10positive regulation of multicellular organism growthGO:04001810.3BBS4, BBS2, MKKS
11retina homeostasisGO:00189510.3BBS1, BBS4, BBS10
12hippocampus developmentGO:02176610.2MKKS, BBS2, BBS4
13protein localization to organelleGO:03336510.2BBS4, BBS2
14cerebral cortex developmentGO:02198710.2BBS4, BBS2, MKKS
15determination of left/right symmetryGO:00736810.2MKKS, BBS7, ARL6
16sensory perception of smellGO:00760810.2BBS4, TTC8, MKKS
17vasodilationGO:04231110.2BBS2, MKKS
18intracellular transportGO:04690710.2MKKS, BBS4
19negative regulation of gene expressionGO:01062910.2MKKS, BBS2, BBS4
20heart loopingGO:00194710.1MKKS, BBS5, BBS4, BBS7
21regulation of protein localizationGO:03288010.1WDPCP, TTC8
22response to stimulusGO:05089610.1BBS9, BBS1, BBS10, BBS5
23Golgi to plasma membrane protein transportGO:04300110.0BBS1, BBS2
24photoreceptor cell maintenanceGO:04549410.0MKKS, BBS2, BBS10, BBS4, BBS1
25melanosome transportGO:0324029.8ARL6, BBS7, BBS4, BBS2, BBS5, MKKS
26adult behaviorGO:0305349.8BBS4, BBS2
27nonmotile primary cilium assemblyGO:0350589.8BBS1, BBS7, BBS4, BBS10, BBS2, MKKS
28protein transportGO:0150319.5TTC8, CEP290, BBS5, BBIP1, BBS4, BBS7
29cilium morphogenesisGO:0602719.5MKKS, MKS1, CEP290, WDPCP, BBS2, BBS4
30fat cell differentiationGO:0454449.3BBS4, BBS2, TTC8, MKKS, BBS7, BBS9
31visual perceptionGO:0076019.3ARL6, BBS9, BBS1, BBS7, BBS4, BBS10
32cilium assemblyGO:0423849.0ARL6, BBS1, BBS4, BBIP1, BBS5, CCDC28B

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II repressing transcription factor bindingGO:0011038.8BBS1, MKKS, TTC8, BBS5, BBS2, BBS10
2protein bindingGO:0055156.7BBIP1, BBS2, BBS5, CCDC28B, CEP290, MCPH1

Products for genes affiliated with Bardet-Biedl Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Bardet-Biedl Syndrome

About this section
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet