MCID: BRD002
MIFTS: 61

Bardet-Biedl Syndrome

Categories: Rare diseases, Genetic diseases, Eye diseases, Gastrointestinal diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Bardet-Biedl Syndrome

MalaCards integrated aliases for Bardet-Biedl Syndrome:

Name: Bardet-Biedl Syndrome 12 23 49 24 55 36 28 51 41 14 69
Bbs 49 24 55
Biedl-Bardet Syndrome 23 49

Characteristics:

Orphanet epidemiological data:

55
bardet-biedl syndrome
Inheritance: Autosomal recessive,Oligogenic; Prevalence: 1-9/100000,1-9/1000000 (Europe),1-9/1000000 (Tunisia),1-9/1000000 (Switzerland),1-9/1000000 (United Kingdom),1-9/100000 (United States); Age of onset: Antenatal,Infancy,Neonatal;

GeneReviews:

23
Penetrance Penetrance was originally thought to be complete; however, several examples of unaffected individuals with two pathogenic variants in the same gene have been reported...

Classifications:



Summaries for Bardet-Biedl Syndrome

NIH Rare Diseases : 49 Bardet-Biedl syndrome(BBS) is an inherited condition that affects many parts of the body. People with this syndrome 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.Mutations in at least 14 genes are known to cause Bardet-Biedl syndrome and inheritance is usually autosomal recessive. Treatment depends on the symptoms present in each person. Last updated: 9/18/2017

MalaCards based summary : Bardet-Biedl Syndrome, also known as bbs, is related to bardet-biedl syndrome 8 and bardet-biedl syndrome 3, and has symptoms including multicystic kidney dysplasia, cryptorchidism and nephrotic syndrome. An important gene associated with Bardet-Biedl Syndrome is BBS1 (Bardet-Biedl Syndrome 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs alpha-MSH and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include kidney, pituitary and eye, and related phenotypes are growth/size/body region and cellular

GeneReviews: NBK1363

Related Diseases for Bardet-Biedl Syndrome

Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 3
Bardet-Biedl Syndrome 6 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 5
Bardet-Biedl Syndrome 7 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 9 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 12
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14
Bardet-Biedl Syndrome 15 Bardet-Biedl Syndrome 16
Bardet-Biedl Syndrome 17 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 19 Bardet-Biedl Syndrome 20
Bardet-Biedl Syndrome 21

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

(show top 50) (show all 111)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 8 35.1 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
2 bardet-biedl syndrome 3 35.1 ARL6 BBS1 BBS2 BBS4 BBS5 BBS9
3 bardet-biedl syndrome 4 35.1 BBS1 BBS2 BBS4
4 bardet-biedl syndrome 18 35.1 BBIP1 BBS1 BBS2 BBS4 BBS7 TTC8
5 bardet-biedl syndrome 17 35.1 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
6 bardet-biedl syndrome 6 35.0 BBS1 BBS2 BBS4 BBS7 MKKS
7 bardet-biedl syndrome 7 35.0 BBS12 BBS7
8 bardet-biedl syndrome 14 35.0 BBS1 BBS10 BBS12 BBS2 BBS9 CEP290
9 bardet-biedl syndrome 15 34.9 BBS2 BBS4 MKKS WDPCP
10 bardet-biedl syndrome 19 34.9 BBS10 BBS2 IFT27
11 bardet-biedl syndrome 5 34.8 BBS2 BBS5
12 bardet-biedl syndrome 2 34.8 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
13 bardet-biedl syndrome 1 34.8 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
14 bardet-biedl syndrome 10 34.8 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
15 bardet-biedl syndrome 12 34.8 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
16 bardet-biedl syndrome 11 34.7 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
17 bardet-biedl syndrome 16 34.7 BBS1 SDCCAG8
18 bardet-biedl syndrome 13 34.7 BBS1 BBS10 BBS12 BBS2 BBS4 CEP290
19 polydactyly 31.8 BBS1 BBS2 BBS4 BBS7 MKKS MKS1
20 ciliopathy 31.6 BBS1 BBS7 CEP290 MKS1 NPHP1 SDCCAG8
21 mckusick-kaufman syndrome 31.4 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
22 nonsyndromic retinitis pigmentosa 31.1 BBS1 BBS2 TTC8
23 retinitis pigmentosa 31.0 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
24 meckel syndrome, type 1 30.9 BBS4 CEP290 MKS1 NPHP1 WDPCP
25 bardet-biedl syndrome 9 12.7
26 bardet-biedl syndrome 21 12.7
27 bardet-biedl syndrome 20 12.7
28 vaginal atresia 11.5
29 laurence-moon syndrome 11.4
30 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.4
31 body mass index quantitative trait locus 11 10.7
32 body mass index quantitative trait locus 9 10.7
33 body mass index quantitative trait locus 8 10.7
34 body mass index quantitative trait locus 7 10.7
35 body mass index quantitative trait locus 12 10.7
36 body mass index quantitative trait locus 14 10.7
37 body mass index quantitative trait locus 18 10.7
38 body mass index quantitative trait locus 4 10.7
39 body mass index quantitative trait locus 10 10.7
40 retinitis 10.7
41 tetralogy of fallot 10.6 BBS1 BBS2 BBS4 BBS7 MKKS
42 hydrolethalus syndrome 1 10.6 BBS2 BBS4 MKS1
43 senior-loken syndrome 1 10.6 CEP290 MKS1 NPHP1 SDCCAG8
44 fundus dystrophy 10.6 BBS1 BBS10 BBS12 BBS2 BBS4 CEP290
45 nephronophthisis 10.5 CEP290 MKS1 NPHP1 SDCCAG8
46 kidney disease 10.4
47 situs inversus 10.3
48 retinal degeneration 10.3
49 leber congenital amaurosis 4 10.3
50 diabetes mellitus 10.3

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



Diseases related to Bardet-Biedl Syndrome

Symptoms & Phenotypes for Bardet-Biedl Syndrome

Human phenotypes related to Bardet-Biedl Syndrome:

55 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000003
2 cryptorchidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000028
3 nephrotic syndrome 55 31 occasional (7.5%) Occasional (29-5%) HP:0000100
4 hypogonadism 55 31 frequent (33%) Frequent (79-30%) HP:0000135
5 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
6 low-set, posteriorly rotated ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000368
7 prominent nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000426
8 short neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000470
9 downslanted palpebral fissures 55 31 occasional (7.5%) Occasional (29-5%) HP:0000494
10 abnormal electroretinogram 55 31 hallmark (90%) Very frequent (99-80%) HP:0000512
11 pigmentary retinopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000580
12 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
13 hypertension 55 31 frequent (33%) Frequent (79-30%) HP:0000822
14 postaxial hand polydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001162
15 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
16 hepatic fibrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001395
17 obesity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001513
18 neurological speech impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0002167
19 generalized hirsutism 55 31 occasional (7.5%) Occasional (29-5%) HP:0002230
20 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202
21 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
22 finger syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0006101
23 hypoplasia of the ovary 55 31 frequent (33%) Frequent (79-30%) HP:0008724
24 hypoplasia of penis 55 31 frequent (33%) Frequent (79-30%) HP:0008736
25 medial flaring of the eyebrow 55 31 occasional (7.5%) Occasional (29-5%) HP:0010747

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

43 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 MKS1 SDCCAG8 TRIM32 TTC8 WDPCP ARL6
2 cellular MP:0005384 10.37 IFT27 MKKS MKS1 NPHP1 SDCCAG8 TTC8
3 behavior/neurological MP:0005386 10.33 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
4 nervous system MP:0003631 10.32 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
5 homeostasis/metabolism MP:0005376 10.27 BBS12 BBS2 BBS4 BBS5 BBS7 CEP290
6 craniofacial MP:0005382 10.25 ARL6 BBS1 BBS4 BBS7 CEP290 IFT27
7 cardiovascular system MP:0005385 10.24 ARL6 BBS1 BBS4 BBS5 BBS7 CEP290
8 mortality/aging MP:0010768 10.18 BBIP1 BBS1 BBS10 BBS4 BBS7 CEP290
9 adipose tissue MP:0005375 10.16 BBS10 BBS12 BBS2 BBS4 BBS5 LZTFL1
10 renal/urinary system MP:0005367 10.1 BBS1 BBS10 NPHP1 SDCCAG8 TTC8 WDPCP
11 limbs/digits/tail MP:0005371 10.09 BBS1 BBS2 BBS5 BBS7 IFT27 MKKS
12 digestive/alimentary MP:0005381 10.04 BBS2 BBS4 BBS7 IFT27 MKS1 SDCCAG8
13 reproductive system MP:0005389 10 BBS7 CEP290 MKKS MKS1 NPHP1 TRIM32
14 respiratory system MP:0005388 9.76 BBS1 BBS4 CEP290 IFT27 MKKS MKS1
15 vision/eye MP:0005391 9.58 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
16 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 BBS7 CEP290 MKKS

Drugs & Therapeutics for Bardet-Biedl Syndrome

Drugs for Bardet-Biedl Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 alpha-MSH Phase 2, Phase 3
2 Hormone Antagonists Phase 2, Phase 3
3 Hormones Phase 2, Phase 3
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
5
Menthol Approved 2216-51-5 16666
6 Liver Extracts
7 insulin
8 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
2 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
3 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
4 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
5 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
6 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
7 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
8 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
9 Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Terminated NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome

Cochrane evidence based reviews: bardet-biedl syndrome

Genetic Tests for Bardet-Biedl Syndrome

Genetic tests related to Bardet-Biedl Syndrome:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 28 ARL6 BBS1 BBS4 CCDC28B MKKS SDCCAG8 TMEM67

Anatomical Context for Bardet-Biedl Syndrome

MalaCards organs/tissues related to Bardet-Biedl Syndrome:

38
Kidney, Pituitary, Eye, Liver, Ovary, Skeletal Muscle, Brain

Publications for Bardet-Biedl Syndrome

Articles related to Bardet-Biedl Syndrome:

(show top 50) (show all 448)
# Title Authors Year
1
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. ( 29445114 )
2018
2
The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export. ( 29339469 )
2018
3
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a<i>Bardet-Biedl Syndrome 9</i>(<i>BBS9</i>) deletion. ( 29367880 )
2018
4
The Endocrine and Metabolic Characteristics of a large Bardet-Biedl syndrome clinic population. ( 29409041 )
2018
5
Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. ( 28566787 )
2017
6
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. ( 28143435 )
2017
7
<i>FBN3</i> gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome. ( 29156830 )
2017
8
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). ( 28824921 )
2017
9
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336 )
2017
10
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. ( 28761321 )
2017
11
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. ( 28808579 )
2017
12
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. ( 28624958 )
2017
13
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. ( 28237838 )
2017
14
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. ( 28352024 )
2017
15
Homozygous mutation in<i>CEP19,</i>a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. ( 29127258 )
2017
16
Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing. ( 28396767 )
2017
17
Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes. ( 29232001 )
2017
18
Beneficial Outcomes of Sleeve Gastrectomy in a Morbidly Obese Patient With Bardet-Biedl Syndrome. ( 29264490 )
2017
19
The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect. ( 28868293 )
2017
20
Sleep disordered breathing in Bardet-Biedl Syndrome. ( 29106859 )
2017
21
Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease. ( 28662344 )
2017
22
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ( 28502102 )
2017
23
Impact of Local and Systemic Factors on Kidney Dysfunction in Bardet-Biedl Syndrome. ( 29161709 )
2017
24
Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms. ( 28511423 )
2017
25
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. ( 26846096 )
2016
26
Renal phenotype in Bardet-Biedl Syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion. ( 27488999 )
2016
27
Ovarian teratomas in a patient with Bardet-Biedl syndrome, a rare association. ( 28174811 )
2016
28
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. ( 26854863 )
2016
29
Oral healthcare management in Bardet Biedl syndrome. ( 27571505 )
2016
30
Bardet-biedl syndrome with ostium primum atrial septal defect-A case report. ( 27727653 )
2016
31
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. ( 27853007 )
2016
32
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. ( 27486776 )
2016
33
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. ( 27708425 )
2016
34
Bardet-Biedl Syndrome 3 regulates development of cranial base midline structures. ( 27170093 )
2016
35
Bardet-Biedl Syndrome. ( 27385962 )
2016
36
Bardet-Biedl Syndrome with End Stage Renal Disease. ( 27853335 )
2016
37
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). ( 27008867 )
2016
38
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina. ( 26867008 )
2016
39
Renal transplantation in Bardet-Biedl Syndrome. ( 27245600 )
2016
40
Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome. ( 27442694 )
2016
41
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome. ( 27879052 )
2016
42
Spot Diagnosis of a Daedalian Genetic Disorder: Bardet-Biedl Syndrome. ( 27437293 )
2016
43
Bardet Biedl syndrome in South Africa: A single founder mutation. ( 27245532 )
2016
44
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. ( 26763875 )
2016
45
Anesthetic considerations for patients with Bardet-Biedl syndrome: a case series and review of the literature. ( 26804322 )
2016
46
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. ( 27659767 )
2016
47
Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and AlstrAPm Syndrome provides mechanistic insight into shared and divergent phenotypes. ( 27142762 )
2016
48
Genetics of Human Bardet-Biedl Syndrome, an Updates. ( 26762677 )
2016
49
Two brothers with bardet-biedl syndrome presenting with chronic renal failure. ( 25960897 )
2015
50
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. ( 25982971 )
2015

Variations for Bardet-Biedl Syndrome

ClinVar genetic disease variations for Bardet-Biedl Syndrome:

6 (show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS4 NM_033028.4(BBS4): c.77-220delA deletion Pathogenic rs113994189 GRCh37 Chromosome 15, 73001821: 73001821
2 BBS4 NM_033028.4(BBS4): c.157-2A> G single nucleotide variant Pathogenic rs113994192 GRCh37 Chromosome 15, 73004583: 73004583
3 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic/Likely pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
4 BBS1 NM_024649.4(BBS1): c.1645G> T (p.Glu549Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917777 GRCh37 Chromosome 11, 66299163: 66299163
5 BBS1 NM_024649.4(BBS1): c.432+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587777829 GRCh38 Chromosome 11, 66514679: 66514679
6 MKKS NM_170784.2(MKKS): c.431_441delTTAGTAGTACT (p.Phe144Serfs) deletion Pathogenic rs113994195 GRCh37 Chromosome 20, 10393722: 10393732
7 MKKS NM_170784.2(MKKS): c.876_877insCCTG (p.Cys293Profs) insertion Pathogenic rs113994196 GRCh37 Chromosome 20, 10393286: 10393287
8 BBS1 NM_024649.4(BBS1): c.1340-2A> G single nucleotide variant Pathogenic rs113994180 GRCh37 Chromosome 11, 66297288: 66297288
9 BBS1 NM_024649.4(BBS1): c.831-3C> G single nucleotide variant Pathogenic rs113994179 GRCh37 Chromosome 11, 66290924: 66290924
10 BBS1 NM_024649.4(BBS1): c.-3_37del40 deletion Pathogenic rs113994178 GRCh37 Chromosome 11, 66278128: 66278167
11 BBS4 NM_033028.4(BBS4): c.220+1G> C single nucleotide variant Pathogenic rs113994190 GRCh37 Chromosome 15, 73004649: 73004649
12 BBS4 NM_033028.4(BBS4): c.406-2A> C single nucleotide variant Pathogenic rs113994191 GRCh37 Chromosome 15, 73015133: 73015133
13 BBS10 NM_024685.3(BBS10): c.273C> G (p.Cys91Trp) single nucleotide variant Pathogenic rs148374859 GRCh37 Chromosome 12, 76741492: 76741492
14 BBS1 NM_024649.4(BBS1): c.670G> A (p.Glu224Lys) single nucleotide variant Likely pathogenic rs193922709 GRCh37 Chromosome 11, 66287166: 66287166
15 BBS2 NM_031885.3(BBS2): c.1015C> T (p.Arg339Ter) single nucleotide variant Likely pathogenic rs193922710 GRCh37 Chromosome 16, 56536294: 56536294
16 BBS2 NM_031885.3(BBS2): c.1770delT (p.Phe590Leufs) deletion Pathogenic/Likely pathogenic rs193922711 GRCh37 Chromosome 16, 56531682: 56531682
17 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
18 ARL6 NM_177976.3(ARL6): c.272T> C (p.Ile91Thr) single nucleotide variant Pathogenic rs137854907 GRCh37 Chromosome 3, 97503816: 97503816
19 BBS12 NM_001178007.1(BBS12): c.323C> G (p.Pro108Arg) single nucleotide variant Pathogenic rs151344630 GRCh37 Chromosome 4, 123663370: 123663370
20 BBS5 NM_152384.2(BBS5): c.413G> A (p.Arg138His) single nucleotide variant Pathogenic rs179363897 GRCh37 Chromosome 2, 170349410: 170349410
21 BBIP1 NM_001195306.1(BBIP1): c.173T> G (p.Leu58Ter) single nucleotide variant Pathogenic rs515726134 GRCh38 Chromosome 10, 110900466: 110900466
22 LZTFL1 NM_020347.3(LZTFL1): c.260T> C (p.Leu87Pro) single nucleotide variant Pathogenic rs515726135 GRCh37 Chromosome 3, 45877145: 45877145
23 LZTFL1 NM_020347.3(LZTFL1): c.778G> T (p.Glu260Ter) single nucleotide variant Pathogenic rs515726136 GRCh38 Chromosome 3, 45827459: 45827459
24 BBS10 NM_024685.3(BBS10): c.1091delA (p.Asn364Thrfs) deletion Pathogenic/Likely pathogenic rs727503818 GRCh37 Chromosome 12, 76740674: 76740674
25 BBS1 NM_024649.4(BBS1): c.436C> T (p.Arg146Ter) single nucleotide variant Likely pathogenic rs786204444 GRCh38 Chromosome 11, 66515543: 66515543
26 BBS1 NM_024649.4(BBS1): c.1131_1135delCTTTG (p.Cys377Trpfs) deletion Likely pathogenic rs786204701 GRCh38 Chromosome 11, 66526143: 66526147
27 BBS1 NM_024649.4(BBS1): c.1285C> T (p.Arg429Ter) single nucleotide variant Likely pathogenic rs768443448 GRCh38 Chromosome 11, 66526753: 66526753
28 BBS9 NM_198428.2(BBS9): c.263C> A (p.Ser88Ter) single nucleotide variant Pathogenic/Likely pathogenic rs749974697 GRCh38 Chromosome 7, 33152851: 33152851
29 BBS5 NM_152384.2(BBS5): c.532G> A (p.Gly178Arg) single nucleotide variant Likely pathogenic rs786205636 GRCh38 Chromosome 2, 169493750: 169493750
30 BBS1 NM_024649.4(BBS1): c.887delT (p.Ile296Thrfs) deletion Pathogenic rs794727006 GRCh37 Chromosome 11, 66290983: 66290983
31 BBS12 NM_152618.2(BBS12): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs121918327 GRCh37 Chromosome 4, 123664110: 123664110
32 BBS10 NM_024685.3(BBS10): c.271dupT (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh38 Chromosome 12, 76347714: 76347714
33 TTC8 NM_198309.3(TTC8): c.1019+2_1019+4delTGC deletion Pathogenic rs587777807 GRCh38 Chromosome 14, 88870200: 88870202
34 BBS7 NM_176824.2(BBS7): c.632C> T (p.Thr211Ile) single nucleotide variant Pathogenic rs119466002 GRCh37 Chromosome 4, 122775945: 122775945
35 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh37 Chromosome 16, 56536702: 56536702
36 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh37 Chromosome 9, 119461480: 119461480
37 TRIM32 NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser) single nucleotide variant Pathogenic rs111033571 GRCh37 Chromosome 9, 119460409: 119460409
38 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh38 Chromosome 12, 88086450: 88086450
39 BBS7 NM_176824.2(BBS7): c.1986_1988delGCAinsT (p.Lys662Asnfs) indel Pathogenic rs863224529 GRCh38 Chromosome 4, 121828172: 121828174
40 BBS7 NM_176824.2(BBS7): c.389_390delAC (p.Asn130Thrfs) deletion Pathogenic rs863224530 GRCh37 Chromosome 4, 122780285: 122780286
41 BBS9 NM_198428.2(BBS9): c.(?_-1)_328+?del deletion Pathogenic GRCh38 Chromosome 7, 33146252: 33155702
42 BBS9 NM_198428.2(BBS9): c.1370T> A (p.Leu457Ter) single nucleotide variant Pathogenic rs762511626 GRCh38 Chromosome 7, 33349108: 33349108
43 BBS9 NM_198428.2(BBS9): c.1423G> T (p.Glu475Ter) single nucleotide variant Pathogenic rs863224534 GRCh38 Chromosome 7, 33349161: 33349161
44 BBS10 NM_024685.3(BBS10): c.687delT (p.Val230Phefs) deletion Pathogenic rs761101213 GRCh37 Chromosome 12, 76741078: 76741078
45 BBS10 NM_024685.3(BBS10): c.531C> A (p.Tyr177Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863224522 GRCh38 Chromosome 12, 76347454: 76347454
46 BBS1 NM_024649.4(BBS1): c.48-3C> G single nucleotide variant Pathogenic rs869025204 GRCh37 Chromosome 11, 66278481: 66278481
47 BBS1 NM_024649.4(BBS1): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs869025205 GRCh37 Chromosome 11, 66291255: 66291255
48 BBS10 NM_024685.3(BBS10): c.145C> T (p.Arg49Trp) single nucleotide variant Pathogenic rs768933093 GRCh38 Chromosome 12, 76348214: 76348214
49 TMEM67 NM_001142301.1(TMEM67): c.1110delA (p.Glu371Lysfs) deletion Likely pathogenic rs749435317 GRCh38 Chromosome 8, 93786287: 93786287
50 BBS1 NM_024649.4(BBS1): c.416G> A (p.Trp139Ter) single nucleotide variant Pathogenic rs878855095 GRCh37 Chromosome 11, 66282133: 66282133

Expression for Bardet-Biedl Syndrome

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

Pathways for Bardet-Biedl Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
2
Show member pathways
11.47 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2

GO Terms for Bardet-Biedl Syndrome

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.91 BBS1 BBS2 BBS4 BBS5 BBS7 CEP290
2 axoneme GO:0005930 9.89 ARL6 BBS1 BBS5 BBS7 WDPCP
3 motile cilium GO:0031514 9.88 BBS2 BBS4 IFT27 MKKS NPHP1
4 ciliary membrane GO:0060170 9.87 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
5 centriole GO:0005814 9.86 BBS4 CEP290 MKS1 SDCCAG8
6 cilium GO:0005929 9.86 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
7 photoreceptor connecting cilium GO:0032391 9.83 BBS4 CEP290 NPHP1 TTC8
8 ciliary transition zone GO:0035869 9.81 BBS4 BBS9 CEP290 MKS1
9 centriolar satellite GO:0034451 9.76 BBS4 BBS9 CEP290 SDCCAG8
10 pericentriolar material GO:0000242 9.58 BBS4 BBS9
11 MKS complex GO:0036038 9.57 CEP290 MKS1
12 BBSome GO:0034464 9.28 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
13 cytoplasm GO:0005737 10.48 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
14 cytosol GO:0005829 10.44 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
15 cytoskeleton GO:0005856 10.21 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
16 microtubule organizing center GO:0005815 10.1 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
17 centrosome GO:0005813 10.09 BBS1 BBS4 BBS7 CEP290 IFT27 MKKS
18 cell projection GO:0042995 10.06 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.97 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
2 ciliary basal body-plasma membrane docking GO:0097711 9.92 CEP290 MKS1 NPHP1 SDCCAG8
3 determination of left/right symmetry GO:0007368 9.89 ARL6 BBS7 MKKS MKS1
4 heart looping GO:0001947 9.88 BBS4 BBS5 BBS7 MKKS
5 photoreceptor cell maintenance GO:0045494 9.88 BBS1 BBS10 BBS12 BBS2 BBS4 MKKS
6 fat cell differentiation GO:0045444 9.86 ARL6 BBS2 BBS4 BBS7 BBS9 MKKS
7 protein localization GO:0008104 9.84 BBS2 BBS4 BBS7
8 cerebral cortex development GO:0021987 9.83 BBS2 BBS4 MKKS
9 smoothened signaling pathway GO:0007224 9.83 BBS7 IFT27 WDPCP
10 intracellular transport GO:0046907 9.83 BBS4 BBS5 BBS7 MKKS
11 hippocampus development GO:0021766 9.82 BBS2 BBS4 MKKS
12 negative regulation of GTPase activity GO:0034260 9.82 BBS4 MKKS TTC8
13 retina homeostasis GO:0001895 9.81 BBS1 BBS10 BBS4
14 positive regulation of multicellular organism growth GO:0040018 9.81 BBS2 BBS4 MKKS
15 melanosome transport GO:0032402 9.8 ARL6 BBS2 BBS4 BBS5 BBS7 MKKS
16 inner ear receptor cell stereocilium organization GO:0060122 9.79 IFT27 MKS1 TTC8
17 brain morphogenesis GO:0048854 9.78 BBS2 BBS4 MKKS
18 protein localization to cilium GO:0061512 9.78 ARL6 BBS1 BBS4 BBS9
19 chaperone-mediated protein complex assembly GO:0051131 9.77 BBS10 BBS12 MKKS
20 cell projection organization GO:0030030 9.77 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
21 regulation of stress fiber assembly GO:0051492 9.76 BBS4 MKKS TTC8
22 striatum development GO:0021756 9.74 BBS2 BBS4 MKKS
23 response to leptin GO:0044321 9.73 BBS2 BBS4 MKKS
24 leptin-mediated signaling pathway GO:0033210 9.72 BBS2 BBS4 MKKS
25 Golgi to plasma membrane protein transport GO:0043001 9.69 BBS1 BBS2
26 motile cilium assembly GO:0044458 9.69 BBS5 MKS1
27 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.69 BBS2 BBS4 MKKS
28 vasodilation GO:0042311 9.68 BBS2 MKKS
29 regulation of smoothened signaling pathway GO:0008589 9.68 ARL6 MKS1
30 intraciliary transport GO:0042073 9.68 BBS12 IFT27
31 face development GO:0060324 9.68 BBS4 MKKS
32 de novo protein folding GO:0006458 9.67 BBS12 MKKS
33 protein localization to organelle GO:0033365 9.67 BBS2 BBS4
34 negative regulation of actin filament polymerization GO:0030837 9.67 BBS4 MKKS
35 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.67 BBS2 BBS4 MKKS
36 artery smooth muscle contraction GO:0014824 9.65 BBS2 MKKS
37 sensory processing GO:0050893 9.63 BBS4 TTC8
38 pigment granule aggregation in cell center GO:0051877 9.62 BBS7 MKKS
39 non-motile cilium assembly GO:1905515 9.23 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
40 transport GO:0006810 10.28 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
41 protein transport GO:0015031 10.17 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
42 response to stimulus GO:0050896 10.11 ARL6 BBS1 BBS10 BBS2 BBS4 BBS5
43 visual perception GO:0007601 10.02 ARL6 BBS1 BBS10 BBS2 BBS4 BBS5

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.23 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7

Sources for Bardet-Biedl Syndrome

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