MCID: BRD002
MIFTS: 65

Bardet-Biedl Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Bardet-Biedl Syndrome

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Sources:
9Disease Ontology, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Bardet-Biedl Syndrome, Aliases & Descriptions:

Name: Bardet-Biedl Syndrome 9 19 41 21 11 43 47 60
Biedl-Bardet Syndrome 19 41 20 22
Bbs 41 21 47
Laurence-Moon Syndrome 21 60
Lmbbs 41 21
 
Laurence-Moon-Bardet-Biedl Syndrome 21
Laurence Moon Bardet Biedl Syndrome 41
Laurence-Moon-Biedl Syndrome 21
Laurence Moon Syndrome 41
Lms 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
bardet-biedl syndrome:
Inheritance: Autosomal recessive,Oligogenic; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:1935
MeSH33 D020788
Orphanet47 110
SNOMED-CT55 5619004
MESH via Orphanet34 D020788
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet61 C0752166

Summaries for Bardet-Biedl Syndrome

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NIH Rare Diseases:41 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 biedl-bardet syndrome, is related to bardet-biedl syndrome 1 and bardet-biedl syndrome 3, and has symptoms including multicystic kidney dysplasia, abnormal electroretinogram and postaxial hand polydactyly. An important gene associated with Bardet-Biedl Syndrome is ARL6 (ADP-ribosylation factor-like 6). Affiliated tissues include kidney, testes and liver, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

Disease Ontology:9 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...

GeneReviews summary for bbs

Related Diseases for Bardet-Biedl Syndrome

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Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 16 Bardet-Biedl Syndrome 15
Bardet-Biedl Syndrome 5 Bardet-Biedl Syndrome 17
Bardet-Biedl Syndrome 3 Bardet-Biedl Syndrome 7
Bardet-Biedl Syndrome 12 Bardet-Biedl Syndrome 9
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 14 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 6
Bardet-Biedl Syndrome 19 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

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

(show top 50)    (show all 203)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome 132.2BBS1
2bardet-biedl syndrome 331.9ARL6
3obesity31.9BBS1, BBS4, BBS2, TTC8, MKKS
4bardet-biedl syndrome 431.9BBS4
5bardet-biedl syndrome 631.8MKKS
6bardet-biedl syndrome 731.8BBS7
7bardet-biedl syndrome 931.8BBS9
8bardet-biedl syndrome 831.8TTC8
9bardet-biedl syndrome 531.8BBS5
10bardet-biedl syndrome 1031.8BBS10
11bardet-biedl syndrome 1431.8CEP290
12bardet-biedl syndrome 1131.7TRIM32
13bardet-biedl syndrome 1331.7MKS1
14bardet-biedl syndrome 1531.7WDPCP
15bardet-biedl syndrome 1731.6LZTFL1
16mckusick-kaufman syndrome31.5MKKS
17polydactyly31.2MKKS, TTC8, CEP290, BBS5, BBS2, BBS12
18retinal degeneration30.8MKKS, BBS4, CEP290, NPHP1
19situs inversus30.7NPHP1, LZTFL1
20cystic kidney30.4NPHP1, MKS1, CEP290
21laurence-moon syndrome10.9
22retinitis10.9
23bardet-biedl syndrome 1210.7
24bardet-biedl syndrome 210.7
25kidney disease10.6
26bardet-biedl syndrome 1610.6
27bardet-biedl syndrome 1810.5
28bardet-biedl syndrome 1910.5
29retinitis pigmentosa10.5
30bbs1-related bardet-biedl syndrome10.5
31bbs2-related bardet-biedl syndrome10.5
32arl6-related bardet-biedl syndrome10.5
33bbs4-related bardet-biedl syndrome10.5
34bbs5-related bardet-biedl syndrome10.5
35mkks-related bardet-biedl syndrome10.5
36bbs7-related bardet-biedl syndrome10.5
37ttc8-related bardet-biedl syndrome10.5
38bbs9-related bardet-biedl syndrome10.5
39bbs10-related bardet-biedl syndrome10.5
40trim32-related bardet-biedl syndrome10.5
41bbs12-related bardet-biedl syndrome10.5
42mks1-related bardet-biedl syndrome10.5
43cep290-related bardet-biedl syndrome10.5
44wdpcp-related bardet-biedl syndrome10.5
45sdccag8-related bardet-biedl syndrome10.5
46vocal cord dysfunction familial10.5
47strabismus10.5
48lymphopenia10.4
49neuronitis10.4
50vaginitis10.4

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



Diseases related to bardet-biedl syndrome

Symptoms for Bardet-Biedl Syndrome

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Symptoms:

 47 (show all 26)
  • retinitis pigmentosa/retinal pigmentary changes
  • abnormal erg/electroretinogram/electroretinography
  • postaxial polydactyly (hand)
  • multicystic kidney/renal dysplasia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • generalized obesity
  • nystagmus
  • chronic arterial hypertension
  • abnormal/polycystic ovaries
  • micropenis/small penis/agenesis
  • late puberty/hypogonadism/hypogenitalism
  • short stature/dwarfism/nanism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • flared eyebrows
  • high nasal bridge
  • low set ears/posteriorly rotated ears
  • hearing loss/hypoacusia/deafness
  • short neck
  • syndactyly of fingers/interdigital palm
  • hirsutism/hypertrichosis/increased body hair
  • structural anomalies of the liver and the biliary tract
  • hepatocellular liver disease/hepatic failure
  • nephrotic syndrome
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia

HPO human phenotypes related to Bardet-Biedl Syndrome:

(show all 23)
id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia hallmark (90%) HP:0000003
2 abnormal electroretinogram hallmark (90%) HP:0000512
3 postaxial hand polydactyly hallmark (90%) HP:0001162
4 obesity hallmark (90%) HP:0001513
5 abnormal retinal pigmentation hallmark (90%) HP:0007703
6 cognitive impairment hallmark (90%) HP:0100543
7 polycystic ovaries typical (50%) HP:0000147
8 nystagmus typical (50%) HP:0000639
9 hypertension typical (50%) HP:0000822
10 short stature typical (50%) HP:0004322
11 hypoplasia of penis typical (50%) HP:0008736
12 cryptorchidism occasional (7.5%) HP:0000028
13 nephrotic syndrome occasional (7.5%) HP:0000100
14 hearing impairment occasional (7.5%) HP:0000365
15 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
16 prominent nasal bridge occasional (7.5%) HP:0000426
17 short neck occasional (7.5%) HP:0000470
18 downslanted palpebral fissures occasional (7.5%) HP:0000494
19 hypertrichosis occasional (7.5%) HP:0000998
20 hepatic failure occasional (7.5%) HP:0001399
21 neurological speech impairment occasional (7.5%) HP:0002167
22 finger syndactyly occasional (7.5%) HP:0006101
23 medial flaring of the eyebrow occasional (7.5%) HP:0010747

Drugs & Therapeutics for Bardet-Biedl Syndrome

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Drug clinical trials:

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Genetic Tests for Bardet-Biedl Syndrome

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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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MalaCards organs/tissues related to Bardet-Biedl Syndrome:

31
Kidney, Testes, Liver, Ovary, Pituitary, Eye, Brain, Retina, Thyroid, Skin

Animal Models for Bardet-Biedl Syndrome or affiliated genes

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Publications for Bardet-Biedl Syndrome

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Articles related to Bardet-Biedl Syndrome:

(show top 50)    (show all 378)
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
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, AlstrAPm syndrome and Bardet-Biedl syndrome. (23981649)
2013
7
Hyperphagia among patients with Bardet-Biedl syndrome. (23776152)
2013
8
Bardet-Biedl syndrome, the ciliopathy model and the importance of renal involvement. (24089167)
2013
9
Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. (23900607)
2013
10
Bardet-Biedl syndrome with seizures -a rare association. (24772752)
2013
11
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. (23143442)
2012
12
Prevalence of Bardet-Biedl syndrome in Tunisia. (22109794)
2011
13
Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. (22022287)
2011
14
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. (22139371)
2011
15
Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings. (21980853)
2011
16
Prenatal diagnosis of McKusick-Kaufman/Bardet-Biedl syndrome. (22699466)
2011
17
Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome. (21204204)
2011
18
The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. (20603001)
2010
19
Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes. (20120035)
2010
20
Laurence Moon Bardet Biedl Syndrome. (19377420)
2009
21
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. (19093007)
2008
22
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. (18443298)
2008
23
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. (17980398)
2008
24
Retinal dysfunction in carriers of bardet-biedl syndrome. (17896315)
2007
25
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. (17379567)
2007
26
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. (17322606)
2007
27
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. (17003356)
2006
28
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). (16606853)
2006
29
Comparative genomic analysis identifies an ADP-ribosylation factor- like gene as the cause of Bardet-Biedl Syndrome (BBS3). (15258860)
2004
30
Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. (15340663)
2004
31
Bilateral spontaneous quadriceps tendon ruptures in a patient with Bardet-Biedl syndrome. (15553939)
2004
32
Orthopaedic manifestations of Bardet-Biedl syndrome. (14676542)
2004
33
Further support for digenic inheritance in Bardet-Biedl syndrome. (12920096)
2003
34
Acute poststreptococcal glomerulonephritis in a child with Bardet-Biedl syndrome. (11793138)
2002
35
Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome. (11196121)
1999
36
Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. (10187963)
1999
37
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
38
Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity? (10211669)
1999
39
Laurence-Moon-Bardet-Biedl syndrome. Clinical, electrophysiological and genetic aspects. (9645236)
1998
40
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. (9714014)
1998
41
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. (9134546)
1997
42
Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome. (8667262)
1996
43
The cause of death in Laurence-Moon-Bardet-Biedl syndrome. (8741118)
1996
44
Clinical features of Bardet-Biedl syndrome. (7793264)
1995
45
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. (8075632)
1994
46
Clinical aspects of renal involvement in Bardet-Biedl syndrome. (8270381)
1993
47
Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. (2333905)
1990
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

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Clinvar genetic disease variations for Bardet-Biedl Syndrome:

6 (show all 20)
id Gene Variation 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
12BBS10NM_024685.3(BBS10): c.1736A> G (p.Lys579Arg)single nucleotide variantLikely pathogenicrs141521925GRCh37Chr 12, 76740029: 76740029
13BBS1NM_024649.4(BBS1): c.670G> A (p.Glu224Lys)single nucleotide variantLikely pathogenicrs193922709GRCh37Chr 11, 66287166: 66287166
14BBS2NM_031885.3(BBS2): c.1015C> T (p.Arg339Ter)single nucleotide variantLikely pathogenicrs193922710GRCh37Chr 16, 56536294: 56536294
15BBS2NM_031885.3(BBS2): c.1770delT (p.Phe590Leufs)deletionLikely pathogenicrs193922711GRCh37Chr 16, 56531682: 56531682
16ARL6NM_032146.4(ARL6): c.272T> C (p.Ile91Thr)single nucleotide variantPathogenicrs137854907GRCh37Chr 3, 97503816: 97503816
17BBS12NM_001178007.1(BBS12): c.323C> G (p.Pro108Arg)single nucleotide variantPathogenicrs151344630GRCh37Chr 4, 123663370: 123663370
18BBS5NM_152384.2(BBS5): c.413G> A (p.Arg138His)single nucleotide variantPathogenicrs179363897GRCh37Chr 2, 170349410: 170349410
19BBS4BBS4: c.77-220deldeletionPathogenicrs113994189GRCh37Chr 15, 73001821: 73001821
20NM_033028.4(BBS4): c.157-2A> Gsingle nucleotide variantPathogenicrs113994192GRCh37Chr 15, 73004583: 73004583

Expression for genes affiliated with Bardet-Biedl Syndrome

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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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Cellular components related to Bardet-Biedl Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonemeGO:000593010.3ARL6, WDPCP
2ciliary basal bodyGO:003606410.1TTC8, BBS4, BBS2, MKS1, BBS5
3motile ciliumGO:003151410.0BBS4, NPHP1, BBS2, MKKS
4ciliumGO:000592910.0BBIP1, BBS10, BBS12, IFT172, TTC8
5photoreceptor connecting ciliumGO:003239110.0TTC8, CEP290, NPHP1
6TCTN-B9D complexGO:00360389.9MKS1, CEP290
7ciliary membraneGO:00601709.8TTC8, ARL6, BBS9, BBS1, BBS7, BBS4
8centrosomeGO:00058139.7MKKS, MKS1, SDCCAG8, TTC8, CEP290, BBS7
9BBSomeGO:00344649.7ARL6, TTC8, BBS5, BBS1, BBS2, BBIP1
10cytoplasmGO:00057378.9MKS1, TTC8, CEP290, BBS5, BBS2, BBIP1

Biological processes related to Bardet-Biedl Syndrome according to GeneCards Suite gene sharing:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1sensory processingGO:005089310.6BBS4, TTC8
2convergent extension involved in gastrulationGO:006002710.5MKKS, BBS4
3pigment granule aggregation in cell centerGO:005187710.5MKKS, BBS4, BBS7
4negative regulation of appetite by leptin-mediated signaling pathwayGO:003810810.5BBS2, MKKS, BBS4
5regulation of cilium beat frequency involved in ciliary motilityGO:006029610.5MKKS, BBS2, BBS4
6striatum developmentGO:002175610.5BBS4, BBS2, MKKS
7chaperone-mediated protein complex assemblyGO:005113110.5BBS12, MKKS, BBS10
8brain morphogenesisGO:004885410.5BBS4, MKKS, BBS2
9positive regulation of multicellular organism growthGO:004001810.4BBS4, BBS2, MKKS
10retina homeostasisGO:000189510.4BBS1, BBS4, BBS10
11artery smooth muscle contractionGO:001482410.4BBS2, MKKS
12hippocampus developmentGO:002176610.4MKKS, BBS2, BBS4
13protein localization to organelleGO:003336510.4BBS4, BBS2
14cerebral cortex developmentGO:002198710.4BBS2, MKKS, BBS4
15sensory perception of smellGO:000760810.4MKKS, TTC8, BBS4
16heart loopingGO:000194710.4BBS7, BBS5, MKKS, BBS4
17vasodilationGO:004231110.4BBS2, MKKS
18negative regulation of gene expressionGO:001062910.4BBS4, BBS2, MKKS
19response to stimulusGO:005089610.4BBS9, BBS5, BBS10, BBS1
20intracellular transportGO:004690710.4MKKS, BBS4
21determination of left/right symmetryGO:000736810.4MKKS, IFT172, BBS7, ARL6
22photoreceptor cell maintenanceGO:004549410.3MKKS, BBS2, BBS10, BBS4, BBS1
23Golgi to plasma membrane protein transportGO:004300110.3BBS1, BBS2
24regulation of protein localizationGO:003288010.2TTC8, WDPCP
25melanosome transportGO:003240210.2BBS5, MKKS, BBS2, BBS7, ARL6, BBS4
26nonmotile primary cilium assemblyGO:003505810.2BBS7, BBS4, BBS10, BBS2, MKKS, BBS1
27adult behaviorGO:003053410.2BBS2, BBS4
28protein transportGO:001503110.0BBS4, BBS9, TTC8, CEP290, BBIP1, BBS7
29cilium morphogenesisGO:006027110.0BBS7, BBS2, WDPCP, CEP290, MKS1, MKKS
30fat cell differentiationGO:00454449.9ARL6, TRIM32, BBS9, BBS7, BBS4, BBS2
31cell projection organizationGO:00300309.9NPHP1, BBS9
32visual perceptionGO:00076019.9BBS4, MKKS, BBS5, BBS2, BBS10, BBS7
33cilium assemblyGO:00423849.7CEP290, MKKS, MKS1, IFT172, BBS5, ARL6

Molecular functions related to Bardet-Biedl Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II repressing transcription factor bindingGO:00011039.3BBS1, MKKS, TTC8, BBS5, BBS2, BBS10
2protein bindingGO:00055158.3BBIP1, BBS2, BBS5, CEP290, TTC8, SDCCAG8

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet