MCID: BRD002
MIFTS: 64

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 50 24 25 56 29 52 42 14 69
Bbs 50 24 25 56
Biedl-Bardet Syndrome 23 50 24

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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 15 and bardet-biedl syndrome 13, and has symptoms including short stature, nystagmus and pigmentary retinopathy. 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 Menthol and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include kidney, pituitary and liver, and related phenotypes are growth/size/body region and cellular

Disease Ontology : 12 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 : 25 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 : 72 Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

GeneReviews: NBK1363

Related Diseases for Bardet-Biedl Syndrome

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 21 Bardet-Biedl Syndrome 20
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 Arl6-Related Bardet-Biedl Syndrome
Bbip1-Related Bardet-Biedl Syndrome Bbs1-Related Bardet-Biedl Syndrome
Bbs10-Related Bardet-Biedl Syndrome Bbs12-Related Bardet-Biedl Syndrome
Bbs2-Related Bardet-Biedl Syndrome Bbs4-Related Bardet-Biedl Syndrome
Bbs5-Related Bardet-Biedl Syndrome Bbs7-Related Bardet-Biedl Syndrome
Bbs9-Related Bardet-Biedl Syndrome Cep290-Related Bardet-Biedl Syndrome
Ift27-Related Bardet-Biedl Syndrome Mkks-Related Bardet-Biedl Syndrome
Mks1-Related Bardet-Biedl Syndrome Sdccag8-Related Bardet-Biedl Syndrome
Trim32-Related Bardet-Biedl Syndrome Ttc8-Related Bardet-Biedl Syndrome
Wdpcp-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 126)
id Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 15 35.2 BBS2 BBS4 MKKS WDPCP
2 bardet-biedl syndrome 13 34.9 BBS4 CEP290 MKS1 NPHP1 WDPCP
3 bardet-biedl syndrome 16 34.9 BBS1 SDCCAG8
4 bardet-biedl syndrome 12 34.9 BBS12 BBS7
5 bbs4-related bardet-biedl syndrome 34.5 BBS1 BBS10
6 bardet-biedl syndrome 1 12.7
7 bardet-biedl syndrome 5 12.6
8 bardet-biedl syndrome 4 12.6
9 bardet-biedl syndrome 3 12.6
10 bardet-biedl syndrome 9 12.6
11 bardet-biedl syndrome 2 12.5
12 bardet-biedl syndrome 11 12.5
13 bardet-biedl syndrome 7 12.5
14 bardet-biedl syndrome 6 12.5
15 bardet-biedl syndrome 10 12.5
16 bardet-biedl syndrome 8 12.5
17 bardet-biedl syndrome 14 12.5
18 bardet-biedl syndrome 19 12.5
19 bardet-biedl syndrome 18 12.5
20 bardet-biedl syndrome 17 12.5
21 bardet-biedl syndrome 21 12.4
22 bardet-biedl syndrome 20 12.4
23 lztfl1- related bardet-biedl syndrome 12.1
24 bbip1-related bardet-biedl syndrome 12.1
25 ift27-related bardet-biedl syndrome 12.1
26 mkks-related bardet-biedl syndrome 12.0
27 mks1-related bardet-biedl syndrome 12.0
28 sdccag8-related bardet-biedl syndrome 12.0
29 trim32-related bardet-biedl syndrome 12.0
30 arl6-related bardet-biedl syndrome 12.0
31 ttc8-related bardet-biedl syndrome 12.0
32 wdpcp-related bardet-biedl syndrome 12.0
33 bbs1-related bardet-biedl syndrome 12.0
34 bbs10-related bardet-biedl syndrome 12.0
35 bbs12-related bardet-biedl syndrome 12.0
36 bbs2-related bardet-biedl syndrome 12.0
37 bbs5-related bardet-biedl syndrome 12.0
38 bbs7-related bardet-biedl syndrome 12.0
39 bbs9-related bardet-biedl syndrome 12.0
40 cep290-related bardet-biedl syndrome 12.0
41 alstrom syndrome 11.6
42 laurence-moon syndrome 11.3
43 mental retardation, truncal obesity, retinal dystrophy, and micropenis 11.3
44 biemond syndrome 11.1
45 epileptic encephalopathy, early infantile, 12 11.0 BBS1 BBS2 BBS4 BBS7 MKKS
46 otof-related deafness 11.0 BBS1 BBS2 TTC8
47 ataxia-telangiectasia-like disorder 2 11.0 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
48 macrocephaly, dysmorphic facies, and psychomotor retardation 11.0 BBS1 BBS2 BBS4
49 corneal dystrophy, congenital stromal 11.0 BBS1 BBS10 BBS12 BBS2 BBS9 CEP290
50 combined oxidative phosphorylation deficiency 29 11.0 BBS10 BBS2 IFT27

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:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
3 pigmentary retinopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000580
4 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
5 short neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000470
6 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
7 hepatic fibrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001395
8 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
9 finger syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0006101
10 hypogonadism 56 32 frequent (33%) Frequent (79-30%) HP:0000135
11 downslanted palpebral fissures 56 32 occasional (7.5%) Occasional (29-5%) HP:0000494
12 low-set, posteriorly rotated ears 56 32 occasional (7.5%) Occasional (29-5%) HP:0000368
13 nephrotic syndrome 56 32 occasional (7.5%) Occasional (29-5%) HP:0000100
14 obesity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001513
15 prominent nasal bridge 56 32 occasional (7.5%) Occasional (29-5%) HP:0000426
16 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
17 abnormal electroretinogram 56 32 hallmark (90%) Very frequent (99-80%) HP:0000512
18 generalized hirsutism 56 32 occasional (7.5%) Occasional (29-5%) HP:0002230
19 hypoplasia of penis 56 32 frequent (33%) Frequent (79-30%) HP:0008736
20 neurological speech impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0002167
21 skeletal muscle atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003202
22 multicystic kidney dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000003
23 postaxial hand polydactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001162
24 hypoplasia of the ovary 56 32 frequent (33%) Frequent (79-30%) HP:0008724
25 medial flaring of the eyebrow 56 32 occasional (7.5%) Occasional (29-5%) HP:0010747

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 LZTFL1 MKKS MKS1 SDCCAG8 TRIM32 TTC8
2 cellular MP:0005384 10.37 IFT27 MKKS MKS1 NPHP1 SDCCAG8 TTC8
3 behavior/neurological MP:0005386 10.33 BBS2 BBS4 BBS5 BBS7 CEP290 MKKS
4 nervous system MP:0003631 10.3 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
5 homeostasis/metabolism MP:0005376 10.27 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
6 craniofacial MP:0005382 10.25 ARL6 BBS1 BBS4 BBS7 CEP290 IFT27
7 cardiovascular system MP:0005385 10.24 BBS1 BBS4 BBS5 BBS7 CEP290 IFT27
8 mortality/aging MP:0010768 10.18 BBIP1 BBS1 BBS10 BBS4 BBS7 CEP290
9 adipose tissue MP:0005375 10.16 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
10 renal/urinary system MP:0005367 10.1 SDCCAG8 TTC8 WDPCP BBS2 BBS4 BBS7
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 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS7
14 respiratory system MP:0005388 9.76 BBS1 BBS4 CEP290 IFT27 MKKS MKS1
15 vision/eye MP:0005391 9.58 WDPCP ARL6 BBIP1 BBS1 BBS10 BBS12
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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666
2 Liver Extracts
3 insulin
4 Insulin, Globin Zinc

Interventional clinical trials:


id 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 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:

id Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 29 24 BBS1 BBS2 ARL6 BBS4 BBS5 MKKS BBS7 TTC8 BBS9 BBS10 TRIM32 BBS12 MKS1 CEP290 WDPCP BBIP1

Anatomical Context for Bardet-Biedl Syndrome

MalaCards organs/tissues related to Bardet-Biedl Syndrome:

39
Kidney, Pituitary, Liver, Eye, Brain, Skeletal Muscle, Ovary

Publications for Bardet-Biedl Syndrome

Articles related to Bardet-Biedl Syndrome:

(show top 50) (show all 438)
id Title Authors Year
1
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ( 28502102 )
2017
2
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. ( 28352024 )
2017
3
Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms. ( 28511423 )
2017
4
Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease. ( 28662344 )
2017
5
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). ( 28824921 )
2017
6
The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect. ( 28868293 )
2017
7
Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing. ( 28396767 )
2017
8
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. ( 28808579 )
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
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. ( 28624958 )
2017
11
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. ( 28761321 )
2017
12
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. ( 28237838 )
2017
13
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
14
Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. ( 28566787 )
2017
15
Bardet-Biedl Syndrome with End Stage Renal Disease. ( 27853335 )
2016
16
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. ( 27659767 )
2016
17
Anesthetic considerations for patients with Bardet-Biedl syndrome: a case series and review of the literature. ( 26804322 )
2016
18
Spot Diagnosis of a Daedalian Genetic Disorder: Bardet-Biedl Syndrome. ( 27437293 )
2016
19
Renal transplantation in Bardet-Biedl Syndrome. ( 27245600 )
2016
20
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
21
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. ( 27708425 )
2016
22
Oral healthcare management in Bardet Biedl syndrome. ( 27571505 )
2016
23
Bardet-Biedl Syndrome. ( 27385962 )
2016
24
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
25
Bardet-biedl syndrome with ostium primum atrial septal defect-A case report. ( 27727653 )
2016
26
Genetics of Human Bardet-Biedl Syndrome, an Updates. ( 26762677 )
2016
27
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. ( 27486776 )
2016
28
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. ( 26763875 )
2016
29
Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome. ( 27442694 )
2016
30
Bardet-Biedl Syndrome 3 regulates development of cranial base midline structures. ( 27170093 )
2016
31
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). ( 27008867 )
2016
32
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina. ( 26867008 )
2016
33
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. ( 27853007 )
2016
34
Bardet Biedl syndrome in South Africa: A single founder mutation. ( 27245532 )
2016
35
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. ( 26854863 )
2016
36
Ovarian teratomas in a patient with Bardet-Biedl syndrome, a rare association. ( 28174811 )
2016
37
Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and AlstrAPm Syndrome provides mechanistic insight into shared and divergent phenotypes. ( 27142762 )
2016
38
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome. ( 27879052 )
2016
39
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. ( 25982971 )
2015
40
Bardet-Biedl syndrome: A rare cause of end stage renal disease. ( 25664275 )
2015
41
Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins. ( 26103456 )
2015
42
Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome. ( 25553308 )
2015
43
Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. ( 26078953 )
2015
44
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. ( 26518167 )
2015
45
Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome. ( 26628797 )
2015
46
Bardet-Biedl syndrome in a preterm newborn. ( 26043513 )
2015
47
A rod-sparing retinopathy in bardet-biedl syndrome. ( 25759667 )
2015
48
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families. ( 26082521 )
2015
49
Liver anomalies as a phenotype parameter of Bardet-Biedl syndrome. ( 26596255 )
2015
50
Bardet-Biedl syndrome in two siblings: a rare entity revisited. ( 26025693 )
2015

Variations for Bardet-Biedl Syndrome

ClinVar genetic disease variations for Bardet-Biedl Syndrome:

6 (show top 50) (show all 98)
id Gene Variation Type Significance SNP ID Assembly Location
1 BBS10 NM_024685.3(BBS10): c.271dupT (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh38 Chromosome 12, 76347714: 76347714
2 BBS7 NM_176824.2(BBS7): c.632C> T (p.Thr211Ile) single nucleotide variant Pathogenic rs119466002 GRCh37 Chromosome 4, 122775945: 122775945
3 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh37 Chromosome 16, 56536702: 56536702
4 TRIM32 NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser) single nucleotide variant Pathogenic rs111033571 GRCh37 Chromosome 9, 119460409: 119460409
5 BBS4 NM_033028.4(BBS4): c.77-220delA deletion Pathogenic rs113994189 GRCh37 Chromosome 15, 73001821: 73001821
6 BBS4 NM_033028.4(BBS4): c.157-2A> G single nucleotide variant Pathogenic rs113994192 GRCh37 Chromosome 15, 73004583: 73004583
7 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic/Likely pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
8 BBS1 NM_024649.4(BBS1): c.1645G> T (p.Glu549Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917777 GRCh37 Chromosome 11, 66299163: 66299163
9 BBS1 NM_024649.4(BBS1): c.432+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587777829 GRCh38 Chromosome 11, 66514679: 66514679
10 MKKS NM_170784.2(MKKS): c.431_441delTTAGTAGTACT (p.Phe144Serfs) deletion Pathogenic rs113994195 GRCh37 Chromosome 20, 10393722: 10393732
11 MKKS NM_170784.2(MKKS): c.876_877insCCTG (p.Cys293Profs) insertion Pathogenic rs113994196 GRCh37 Chromosome 20, 10393286: 10393287
12 BBS1 NM_024649.4(BBS1): c.1340-2A> G single nucleotide variant Pathogenic rs113994180 GRCh37 Chromosome 11, 66297288: 66297288
13 BBS1 NM_024649.4(BBS1): c.831-3C> G single nucleotide variant Pathogenic rs113994179 GRCh37 Chromosome 11, 66290924: 66290924
14 BBS1 NM_024649.4(BBS1): c.-3_37del40 deletion Pathogenic rs113994178 GRCh37 Chromosome 11, 66278128: 66278167
15 BBS4 NM_033028.4(BBS4): c.220+1G> C single nucleotide variant Pathogenic rs113994190 GRCh37 Chromosome 15, 73004649: 73004649
16 BBS4 NM_033028.4(BBS4): c.406-2A> C single nucleotide variant Pathogenic rs113994191 GRCh37 Chromosome 15, 73015133: 73015133
17 BBS10 NM_024685.3(BBS10): c.273C> G (p.Cys91Trp) single nucleotide variant Pathogenic rs148374859 GRCh37 Chromosome 12, 76741492: 76741492
18 BBS1 NM_024649.4(BBS1): c.670G> A (p.Glu224Lys) single nucleotide variant Likely pathogenic rs193922709 GRCh37 Chromosome 11, 66287166: 66287166
19 BBS2 NM_031885.3(BBS2): c.1015C> T (p.Arg339Ter) single nucleotide variant Likely pathogenic rs193922710 GRCh37 Chromosome 16, 56536294: 56536294
20 BBS2 NM_031885.3(BBS2): c.1770delT (p.Phe590Leufs) deletion Pathogenic/Likely pathogenic rs193922711 GRCh37 Chromosome 16, 56531682: 56531682
21 ARL6 NM_177976.3(ARL6): c.272T> C (p.Ile91Thr) single nucleotide variant Pathogenic rs137854907 GRCh37 Chromosome 3, 97503816: 97503816
22 BBS12 NM_001178007.1(BBS12): c.323C> G (p.Pro108Arg) single nucleotide variant Pathogenic rs151344630 GRCh37 Chromosome 4, 123663370: 123663370
23 BBS5 NM_152384.2(BBS5): c.413G> A (p.Arg138His) single nucleotide variant Pathogenic rs179363897 GRCh37 Chromosome 2, 170349410: 170349410
24 BBIP1 NM_001195306.1(BBIP1): c.173T> G (p.Leu58Ter) single nucleotide variant Pathogenic rs515726134 GRCh38 Chromosome 10, 110900466: 110900466
25 LZTFL1 NM_020347.3(LZTFL1): c.260T> C (p.Leu87Pro) single nucleotide variant Pathogenic rs515726135 GRCh37 Chromosome 3, 45877145: 45877145
26 LZTFL1 NM_020347.3(LZTFL1): c.778G> T (p.Glu260Ter) single nucleotide variant Pathogenic rs515726136 GRCh38 Chromosome 3, 45827459: 45827459
27 BBS10 NM_024685.3(BBS10): c.1091delA (p.Asn364Thrfs) deletion Pathogenic/Likely pathogenic rs727503818 GRCh37 Chromosome 12, 76740674: 76740674
28 BBS1 NM_024649.4(BBS1): c.1131_1135delCTTTG (p.Cys377Trpfs) deletion Likely pathogenic rs786204701 GRCh37 Chromosome 11, 66293614: 66293618
29 BBS1 NM_024649.4(BBS1): c.436C> T (p.Arg146Ter) single nucleotide variant Likely pathogenic rs786204444 GRCh38 Chromosome 11, 66515543: 66515543
30 BBS1 NM_024649.4(BBS1): c.1285C> T (p.Arg429Ter) single nucleotide variant Likely pathogenic rs768443448 GRCh37 Chromosome 11, 66294224: 66294224
31 BBS9 NM_198428.2(BBS9): c.263C> A (p.Ser88Ter) single nucleotide variant Pathogenic/Likely pathogenic rs749974697 GRCh38 Chromosome 7, 33152851: 33152851
32 BBS5 NM_152384.2(BBS5): c.532G> A (p.Gly178Arg) single nucleotide variant Likely pathogenic rs786205636 GRCh38 Chromosome 2, 169493750: 169493750
33 BBS1 NM_024649.4(BBS1): c.887delT (p.Ile296Thrfs) deletion Pathogenic rs794727006 GRCh37 Chromosome 11, 66290983: 66290983
34 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh38 Chromosome 12, 88086450: 88086450
35 BBS7 NM_176824.2(BBS7): c.1986_1988delGCAinsT (p.Lys662Asnfs) indel Pathogenic rs863224529 GRCh37 Chromosome 4, 122749327: 122749329
36 BBS7 NM_176824.2(BBS7): c.389_390delAC (p.Asn130Thrfs) deletion Pathogenic rs863224530 GRCh37 Chromosome 4, 122780285: 122780286
37 BBS9 NM_198428.2(BBS9): c.(?_-1)_328+?del deletion Pathogenic GRCh38 Chromosome 7, 33146252: 33155702
38 BBS9 NM_198428.2(BBS9): c.1370T> A (p.Leu457Ter) single nucleotide variant Pathogenic rs762511626 GRCh38 Chromosome 7, 33349108: 33349108
39 BBS9 NM_198428.2(BBS9): c.1423G> T (p.Glu475Ter) single nucleotide variant Pathogenic rs863224534 GRCh38 Chromosome 7, 33349161: 33349161
40 BBS10 NM_024685.3(BBS10): c.687delT (p.Val230Phefs) deletion Pathogenic rs761101213 GRCh37 Chromosome 12, 76741078: 76741078
41 BBS10 NM_024685.3(BBS10): c.531C> A (p.Tyr177Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863224522 GRCh38 Chromosome 12, 76347454: 76347454
42 BBS1 NM_024649.4(BBS1): c.48-3C> G single nucleotide variant Pathogenic rs869025204 GRCh37 Chromosome 11, 66278481: 66278481
43 BBS1 NM_024649.4(BBS1): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs869025205 GRCh37 Chromosome 11, 66291255: 66291255
44 BBS10 NM_024685.3(BBS10): c.145C> T (p.Arg49Trp) single nucleotide variant Pathogenic rs768933093 GRCh38 Chromosome 12, 76348214: 76348214
45 TMEM67 NM_001142301.1(TMEM67): c.1110delA (p.Glu371Lysfs) deletion Likely pathogenic rs749435317 GRCh38 Chromosome 8, 93786287: 93786287
46 BBS1 NM_024649.4(BBS1): c.416G> A (p.Trp139Ter) single nucleotide variant Pathogenic rs878855095 GRCh37 Chromosome 11, 66282133: 66282133
47 TRAPPC3 NM_001270894.1(TRAPPC3): c.208C> T (p.Arg70Trp) single nucleotide variant Likely pathogenic rs751375244 GRCh37 Chromosome 1, 36605377: 36605377
48 BBS9 NM_198428.2(BBS9): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs775081992 GRCh37 Chromosome 7, 33192423: 33192423
49 BBS9 NM_198428.2(BBS9): c.956delC (p.Thr319Asnfs) deletion Pathogenic rs886039799 GRCh37 Chromosome 7, 33313508: 33313508
50 BBS9 NM_198428.2(BBS9): c.2115+1G> A single nucleotide variant Pathogenic rs886039801 GRCh38 Chromosome 7, 33388145: 33388145

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:

id 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)
id Name GO ID Score Top Affiliating Genes
1 motile cilium GO:0031514 9.91 BBS2 BBS4 IFT27 MKKS NPHP1
2 ciliary basal body GO:0036064 9.91 BBS1 BBS2 BBS4 BBS5 BBS7 CEP290
3 ciliary membrane GO:0060170 9.87 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
4 centriole GO:0005814 9.86 BBS4 CEP290 MKS1 SDCCAG8
5 cilium GO:0005929 9.86 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
6 photoreceptor connecting cilium GO:0032391 9.83 BBS4 CEP290 NPHP1 TTC8
7 ciliary transition zone GO:0035869 9.8 BBS4 BBS9 CEP290 MKS1
8 axoneme GO:0005930 9.78 ARL6 BBS1 BBS7 WDPCP
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)
id Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.97 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
2 ciliary basal body docking GO:0097711 9.92 CEP290 MKS1 NPHP1 SDCCAG8
3 determination of left/right symmetry GO:0007368 9.9 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 cerebral cortex development GO:0021987 9.84 BBS2 BBS4 MKKS
8 smoothened signaling pathway GO:0007224 9.83 BBS7 IFT27 WDPCP
9 hippocampus development GO:0021766 9.83 BBS2 BBS4 MKKS
10 protein localization GO:0008104 9.82 BBS2 BBS4 BBS7
11 negative regulation of GTPase activity GO:0034260 9.82 BBS4 MKKS TTC8
12 retina homeostasis GO:0001895 9.81 BBS1 BBS10 BBS4
13 positive regulation of multicellular organism growth GO:0040018 9.81 BBS2 BBS4 MKKS
14 intracellular transport GO:0046907 9.81 BBS4 BBS5 BBS7 MKKS
15 melanosome transport GO:0032402 9.8 ARL6 BBS2 BBS4 BBS5 BBS7 MKKS
16 inner ear receptor 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 9.71 BBS2 BBS4 MKKS
25 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.7 BBS2 BBS4 MKKS
26 Golgi to plasma membrane protein transport GO:0043001 9.69 BBS1 BBS2
27 motile cilium assembly GO:0044458 9.69 BBS5 MKS1
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 9.17 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
40 transport GO:0006810 10.29 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:

id 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....