MCID: BRD002
MIFTS: 62

Bardet-Biedl Syndrome

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

Aliases & Classifications for Bardet-Biedl Syndrome

MalaCards integrated aliases for Bardet-Biedl Syndrome:

Name: Bardet-Biedl Syndrome 12 24 53 25 59 37 29 55 6 44 15 40 73
Bbs 53 25 59
Biedl-Bardet Syndrome 24 53

Characteristics:

Orphanet epidemiological data:

59
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:

24
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 : 53 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.

MalaCards based summary : Bardet-Biedl Syndrome, also known as bbs, is related to bardet-biedl syndrome 11 and bardet-biedl syndrome 12. 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 multicystic kidney dysplasia and cryptorchidism

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 : 76 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 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 106)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 11 36.0 BBS12 BBS5 BBS9 TRIM32
2 bardet-biedl syndrome 12 35.8 BBS12 WDPCP
3 bardet-biedl syndrome 3 35.8 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
4 bardet-biedl syndrome 4 35.8 BBS1 BBS2 BBS4
5 bardet-biedl syndrome 6 35.7 BBS1 BBS10 BBS2 BBS4 MKKS
6 bardet-biedl syndrome 14 35.7 BBS1 BBS10 BBS12 BBS2 BBS9 CEP290
7 bardet-biedl syndrome 15 35.7 BBS2 BBS4 MKKS WDPCP
8 bardet-biedl syndrome 18 35.6 BBIP1 BBS1 BBS2 BBS4 BBS7 TTC8
9 bardet-biedl syndrome 17 35.6 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
10 bardet-biedl syndrome 7 35.6 BBS12 BBS7
11 bardet-biedl syndrome 8 35.6 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS5
12 bardet-biedl syndrome 13 35.4 BBS1 BBS10 BBS12 BBS2 BBS4 CEP290
13 bardet-biedl syndrome 16 35.4 BBS1 SDCCAG8
14 bardet-biedl syndrome 19 35.3 BBS10 BBS2
15 bardet-biedl syndrome 5 35.3 BBS2 BBS5
16 bardet-biedl syndrome 1 35.1 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
17 polydactyly 32.5 BBS1 BBS2 BBS4 MKKS MKS1 TTC8
18 mckusick-kaufman syndrome 32.2 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
19 nonsyndromic retinitis pigmentosa 31.8 BBS1 BBS2 TTC8
20 fundus dystrophy 31.8 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
21 encephalocele 31.5 CEP290 MKS1
22 retinitis pigmentosa 31.4 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
23 bardet-biedl syndrome 2 12.9
24 bardet-biedl syndrome 10 12.8
25 bardet-biedl syndrome 9 12.7
26 bardet-biedl syndrome 21 12.6
27 bardet-biedl syndrome 20 12.6
28 alstrom syndrome 11.7
29 vaginal atresia 11.5
30 laurence-moon syndrome 11.3
31 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.3
32 biemond syndrome 11.2
33 tetralogy of fallot 11.1 BBS1 BBS2 BBS4 BBS7 MKKS
34 retinal aplasia 10.9 CEP290 NPHP1 SDCCAG8
35 senior-loken syndrome 1 10.9 CEP290 MKS1 NPHP1 SDCCAG8
36 meckel syndrome, type 1 10.9 BBS4 CEP290 MKS1 NPHP1 WDPCP
37 nephronophthisis 10.8 CEP290 MKS1 NPHP1 SDCCAG8
38 retinitis 10.7
39 kidney disease 10.4
40 situs inversus 10.3
41 retinal degeneration 10.3
42 joubert syndrome 1 10.3 CEP290 MKS1 NPHP1
43 leber congenital amaurosis 4 10.3
44 diabetes mellitus 10.3
45 hirschsprung disease 1 10.2
46 aging 10.2
47 chronic kidney failure 10.2
48 vaginitis 10.2
49 neuronitis 10.2
50 diabetes mellitus, noninsulin-dependent 10.0

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:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000003
2 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
3 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
4 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
5 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
6 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
7 prominent nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000426
8 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
9 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
10 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
11 pigmentary retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000580
12 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
13 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
14 postaxial hand polydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001162
15 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
16 hepatic fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001395
17 obesity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001513
18 neurological speech impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002167
19 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
20 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
21 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
22 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
23 hypoplasia of the ovary 59 32 frequent (33%) Frequent (79-30%) HP:0008724
24 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
25 medial flaring of the eyebrow 59 32 occasional (7.5%) Occasional (29-5%) HP:0010747

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
2 cellular MP:0005384 10.31 BBS2 BBS4 BBS7 CEP290 MKKS MKS1
3 behavior/neurological MP:0005386 10.3 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7
4 nervous system MP:0003631 10.3 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
5 homeostasis/metabolism MP:0005376 10.21 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
6 craniofacial MP:0005382 10.18 ARL6 BBS1 BBS4 BBS7 CEP290 MKKS
7 cardiovascular system MP:0005385 10.16 ARL6 BBS1 BBS4 BBS5 BBS7 CEP290
8 adipose tissue MP:0005375 10.14 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
9 renal/urinary system MP:0005367 10.1 BBS4 BBS7 CEP290 MKS1 NPHP1 SDCCAG8
10 limbs/digits/tail MP:0005371 10.01 BBS1 BBS2 BBS5 BBS7 MKKS MKS1
11 reproductive system MP:0005389 10 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS7
12 respiratory system MP:0005388 9.7 BBS1 BBS4 CEP290 MKKS MKS1 TTC8
13 vision/eye MP:0005391 9.55 LZTFL1 MKKS MKS1 NPHP1 SDCCAG8 TTC8
14 taste/olfaction MP:0005394 9.5 BBS7 CEP290 MKKS TTC8 BBS1 BBS2

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 3 581-05-5
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 Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement Not yet recruiting NCT03490019 Phase 2 Metformin
3 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
4 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
5 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
6 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
7 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
8 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
9 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
10 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 29 ARL6 BBS1 BBS4 CCDC28B MKKS SDCCAG8 TMEM67

Anatomical Context for Bardet-Biedl Syndrome

MalaCards organs/tissues related to Bardet-Biedl Syndrome:

41
Kidney, Pituitary, Eye, Liver, Ovary, Skeletal Muscle, Brain

Publications for Bardet-Biedl Syndrome

Articles related to Bardet-Biedl Syndrome:

(show top 50) (show all 466)
# Title Authors Year
1
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. ( 29445114 )
2018
2
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. ( 29666954 )
2018
3
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. ( 29633607 )
2018
4
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. ( 29806606 )
2018
5
Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (<i>Bbs1</i><sup>M<i>390</i>R/M<i>390</i>R</sup>): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation. ( 29971011 )
2018
6
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
7
[Bardet-Biedl syndrome and Kidney failure: a case report]. ( 29390243 )
2018
8
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes. ( 29482283 )
2018
9
Managing Bardet-Biedl Syndrome-Now and in the Future. ( 29487844 )
2018
10
The Endocrine and Metabolic Characteristics of a large Bardet-Biedl syndrome clinic population. ( 29409041 )
2018
11
The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export. ( 29339469 )
2018
12
Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome. ( 29854508 )
2018
13
Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome. ( 29539623 )
2018
14
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). ( 28824921 )
2017
15
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. ( 28761321 )
2017
16
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
17
The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect. ( 28868293 )
2017
18
Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. ( 28566787 )
2017
19
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. ( 28624958 )
2017
20
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. ( 28237838 )
2017
21
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. ( 28352024 )
2017
22
Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing. ( 28396767 )
2017
23
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336 )
2017
24
<i>FBN3</i> gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome. ( 29156830 )
2017
25
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. ( 29457131 )
2017
26
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ( 28502102 )
2017
27
Toward personalized medicine in Bardet-Biedl syndrome. ( 29754569 )
2017
28
Impact of Local and Systemic Factors on Kidney Dysfunction in Bardet-Biedl Syndrome. ( 29161709 )
2017
29
Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes. ( 29232001 )
2017
30
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. ( 28808579 )
2017
31
Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms. ( 28511423 )
2017
32
Sleep disordered breathing in Bardet-Biedl Syndrome. ( 29106859 )
2017
33
Beneficial Outcomes of Sleeve Gastrectomy in a Morbidly Obese Patient With Bardet-Biedl Syndrome. ( 29264490 )
2017
34
Homozygous mutation in<i>CEP19,</i>a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. ( 29127258 )
2017
35
Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease. ( 28662344 )
2017
36
Bardet-Biedl Syndrome 3 regulates development of cranial base midline structures. ( 27170093 )
2016
37
Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome. ( 27442694 )
2016
38
Bardet-Biedl Syndrome with End Stage Renal Disease. ( 27853335 )
2016
39
Bardet Biedl syndrome in South Africa: A single founder mutation. ( 27245532 )
2016
40
Bardet-biedl syndrome with ostium primum atrial septal defect-A case report. ( 27727653 )
2016
41
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). ( 27008867 )
2016
42
Oral healthcare management in Bardet Biedl syndrome. ( 27571505 )
2016
43
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. ( 26763875 )
2016
44
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. ( 26854863 )
2016
45
Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and AlstrAPm Syndrome provides mechanistic insight into shared and divergent phenotypes. ( 27142762 )
2016
46
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. ( 27708425 )
2016
47
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
48
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome. ( 27879052 )
2016
49
Renal transplantation in Bardet-Biedl Syndrome. ( 27245600 )
2016
50
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

Variations for Bardet-Biedl Syndrome

ClinVar genetic disease variations for Bardet-Biedl Syndrome:

6
(show top 50) (show all 1653)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDCCAG8 NM_006642.4(SDCCAG8): c.1420delG (p.Glu474Serfs) deletion Pathogenic rs397515335 GRCh37 Chromosome 1, 243507580: 243507580
2 SDCCAG8 NM_006642.4(SDCCAG8): c.1420delG (p.Glu474Serfs) deletion Pathogenic rs397515335 GRCh38 Chromosome 1, 243344278: 243344278
3 BBS12 NM_152618.2(BBS12): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs121918327 GRCh37 Chromosome 4, 123664110: 123664110
4 BBS12 NM_152618.2(BBS12): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs121918327 GRCh38 Chromosome 4, 122742955: 122742955
5 CCDC28B NM_024296.4(CCDC28B): c.330C> T (p.Phe110=) single nucleotide variant risk factor rs41263993 GRCh37 Chromosome 1, 32669645: 32669645
6 CCDC28B NM_024296.4(CCDC28B): c.330C> T (p.Phe110=) single nucleotide variant risk factor rs41263993 GRCh38 Chromosome 1, 32204044: 32204044
7 BBS10 NM_024685.3(BBS10): c.271dupT (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh38 Chromosome 12, 76347714: 76347714
8 BBS10 NM_024685.3(BBS10): c.271dupT (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh37 Chromosome 12, 76741494: 76741494
9 TTC8 NM_198309.3(TTC8): c.1019+2_1019+4delTGC deletion Pathogenic rs587777807 GRCh38 Chromosome 14, 88870200: 88870202
10 TTC8 NM_198309.3(TTC8): c.1019+2_1019+4delTGC deletion Pathogenic rs587777807 GRCh37 Chromosome 14, 89336544: 89336546
11 BBS9 NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs) deletion Pathogenic rs606231137 GRCh38 Chromosome 7, 33383753: 33383756
12 BBS9 NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs) deletion Pathogenic rs606231137 GRCh37 Chromosome 7, 33423365: 33423368
13 BBS7 NM_176824.2(BBS7): c.632C> T (p.Thr211Ile) single nucleotide variant Pathogenic rs119466002 GRCh37 Chromosome 4, 122775945: 122775945
14 BBS7 NM_176824.2(BBS7): c.632C> T (p.Thr211Ile) single nucleotide variant Pathogenic rs119466002 GRCh38 Chromosome 4, 121854790: 121854790
15 BBS2 NM_031885.3(BBS2): c.72C> G (p.Tyr24Ter) single nucleotide variant Pathogenic rs121908175 GRCh37 Chromosome 16, 56553703: 56553703
16 BBS2 NM_031885.3(BBS2): c.72C> G (p.Tyr24Ter) single nucleotide variant Pathogenic rs121908175 GRCh38 Chromosome 16, 56519791: 56519791
17 BBS2 NM_031885.3(BBS2): c.175C> T (p.Gln59Ter) single nucleotide variant Likely pathogenic rs121908176 GRCh37 Chromosome 16, 56548535: 56548535
18 BBS2 NM_031885.3(BBS2): c.175C> T (p.Gln59Ter) single nucleotide variant Likely pathogenic rs121908176 GRCh38 Chromosome 16, 56514623: 56514623
19 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh37 Chromosome 16, 56536702: 56536702
20 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh38 Chromosome 16, 56502790: 56502790
21 BBS2 NM_031885.3(BBS2): c.311A> C (p.Asp104Ala) single nucleotide variant Pathogenic rs121908179 GRCh37 Chromosome 16, 56548399: 56548399
22 BBS2 NM_031885.3(BBS2): c.311A> C (p.Asp104Ala) single nucleotide variant Pathogenic rs121908179 GRCh38 Chromosome 16, 56514487: 56514487
23 BBS2 NM_031885.3(BBS2): c.1895G> C (p.Arg632Pro) single nucleotide variant Pathogenic rs138043021 GRCh38 Chromosome 16, 56496982: 56496982
24 BBS2 NM_031885.3(BBS2): c.1895G> C (p.Arg632Pro) single nucleotide variant Pathogenic rs138043021 GRCh37 Chromosome 16, 56530894: 56530894
25 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh37 Chromosome 9, 119461480: 119461480
26 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh38 Chromosome 9, 116699201: 116699201
27 TRIM32 NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser) single nucleotide variant Pathogenic rs111033571 GRCh37 Chromosome 9, 119460409: 119460409
28 TRIM32 NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser) single nucleotide variant Pathogenic rs111033571 GRCh38 Chromosome 9, 116698130: 116698130
29 BBS4 NM_033028.4(BBS4): c.77-220delA deletion Pathogenic rs113994189 GRCh37 Chromosome 15, 73001821: 73001821
30 BBS4 NM_033028.4(BBS4): c.77-220delA deletion Pathogenic rs113994189 GRCh38 Chromosome 15, 72709480: 72709480
31 BBS4 NM_033028.4(BBS4): c.157-2A> G single nucleotide variant Pathogenic rs113994192 GRCh37 Chromosome 15, 73004583: 73004583
32 BBS4 NM_033028.4(BBS4): c.157-2A> G single nucleotide variant Pathogenic rs113994192 GRCh38 Chromosome 15, 72712242: 72712242
33 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
34 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh38 Chromosome 11, 66526181: 66526181
35 BBS1 NM_024649.4(BBS1): c.1645G> T (p.Glu549Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917777 GRCh37 Chromosome 11, 66299163: 66299163
36 BBS1 NM_024649.4(BBS1): c.1645G> T (p.Glu549Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917777 GRCh38 Chromosome 11, 66531692: 66531692
37 BBS1 NM_024649.4(BBS1): c.432+1G> A single nucleotide variant Likely pathogenic rs587777829 GRCh38 Chromosome 11, 66514679: 66514679
38 BBS1 NM_024649.4(BBS1): c.432+1G> A single nucleotide variant Likely pathogenic rs587777829 GRCh37 Chromosome 11, 66282150: 66282150
39 MKKS NM_170784.2(MKKS): c.431_441delTTAGTAGTACT (p.Phe144Serfs) deletion Pathogenic rs113994195 GRCh37 Chromosome 20, 10393722: 10393732
40 MKKS NM_170784.2(MKKS): c.431_441delTTAGTAGTACT (p.Phe144Serfs) deletion Pathogenic rs113994195 GRCh38 Chromosome 20, 10413074: 10413084
41 MKKS NM_170784.2(MKKS): c.876_877insCCTG (p.Cys293Profs) insertion Pathogenic rs113994196 GRCh37 Chromosome 20, 10393286: 10393287
42 MKKS NM_170784.2(MKKS): c.876_877insCCTG (p.Cys293Profs) insertion Pathogenic rs113994196 GRCh38 Chromosome 20, 10412638: 10412639
43 BBS1 NM_024649.4(BBS1): c.1340-2A> G single nucleotide variant Pathogenic rs113994180 GRCh37 Chromosome 11, 66297288: 66297288
44 BBS1 NM_024649.4(BBS1): c.1340-2A> G single nucleotide variant Pathogenic rs113994180 GRCh38 Chromosome 11, 66529817: 66529817
45 BBS1 NM_024649.4(BBS1): c.831-3C> G single nucleotide variant Pathogenic rs113994179 GRCh37 Chromosome 11, 66290924: 66290924
46 BBS1 NM_024649.4(BBS1): c.831-3C> G single nucleotide variant Pathogenic rs113994179 GRCh38 Chromosome 11, 66523453: 66523453
47 BBS1 NM_024649.4(BBS1): c.-3_37del40 deletion Pathogenic rs113994178 GRCh37 Chromosome 11, 66278128: 66278167
48 BBS1 NM_024649.4(BBS1): c.-3_37del40 deletion Pathogenic rs113994178 GRCh38 Chromosome 11, 66510657: 66510696
49 BBS4 NM_033028.4(BBS4): c.220+1G> C single nucleotide variant Pathogenic rs113994190 GRCh37 Chromosome 15, 73004649: 73004649
50 BBS4 NM_033028.4(BBS4): c.220+1G> C single nucleotide variant Pathogenic rs113994190 GRCh38 Chromosome 15, 72712308: 72712308

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
12.61 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 axoneme GO:0005930 9.91 ARL6 BBS1 BBS5 BBS7 WDPCP
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 motile cilium GO:0031514 9.85 BBS2 BBS4 MKKS NPHP1
6 photoreceptor connecting cilium GO:0032391 9.84 BBS4 CEP290 NPHP1 TTC8
7 ciliary transition zone GO:0035869 9.83 BBS4 BBS9 CEP290 MKS1
8 cell projection GO:0042995 9.83 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
9 centriolar satellite GO:0034451 9.8 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 10.43 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
14 cytosol GO:0005829 10.36 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 10.06 BBS1 BBS4 BBS7 CEP290 MKKS MKS1
18 cilium GO:0005929 10.03 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.97 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
2 ciliary basal body-plasma membrane docking GO:0097711 9.91 CEP290 MKS1 NPHP1 SDCCAG8
3 determination of left/right symmetry GO:0007368 9.88 ARL6 BBS7 MKKS MKS1
4 photoreceptor cell maintenance GO:0045494 9.88 BBS1 BBS10 BBS12 BBS2 BBS4 MKKS
5 heart looping GO:0001947 9.87 BBS4 BBS5 BBS7 MKKS
6 fat cell differentiation GO:0045444 9.86 ARL6 BBS2 BBS4 BBS7 BBS9 MKKS
7 protein localization GO:0008104 9.83 BBS2 BBS4 BBS7
8 intracellular transport GO:0046907 9.83 BBS4 BBS5 BBS7 MKKS
9 cerebral cortex development GO:0021987 9.82 BBS2 BBS4 MKKS
10 hippocampus development GO:0021766 9.81 BBS2 BBS4 MKKS
11 negative regulation of GTPase activity GO:0034260 9.81 BBS4 MKKS TTC8
12 retina homeostasis GO:0001895 9.8 BBS1 BBS10 BBS4
13 positive regulation of multicellular organism growth GO:0040018 9.8 BBS2 BBS4 MKKS
14 melanosome transport GO:0032402 9.8 ARL6 BBS2 BBS4 BBS5 BBS7 MKKS
15 protein localization to cilium GO:0061512 9.78 ARL6 BBS1 BBS4 BBS9
16 brain morphogenesis GO:0048854 9.77 BBS2 BBS4 MKKS
17 chaperone-mediated protein complex assembly GO:0051131 9.77 BBS10 BBS12 MKKS
18 cilium assembly GO:0060271 9.77 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
19 regulation of stress fiber assembly GO:0051492 9.75 BBS4 MKKS TTC8
20 striatum development GO:0021756 9.73 BBS2 BBS4 MKKS
21 response to leptin GO:0044321 9.72 BBS2 BBS4 MKKS
22 leptin-mediated signaling pathway GO:0033210 9.71 BBS2 BBS4 MKKS
23 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.69 BBS2 BBS4 MKKS
24 Golgi to plasma membrane protein transport GO:0043001 9.68 BBS1 BBS2
25 adult behavior GO:0030534 9.68 BBS2 BBS4
26 motile cilium assembly GO:0044458 9.68 BBS5 MKS1
27 regulation of smoothened signaling pathway GO:0008589 9.68 ARL6 MKS1
28 inner ear receptor cell stereocilium organization GO:0060122 9.67 MKS1 TTC8
29 vasodilation GO:0042311 9.67 BBS2 MKKS
30 de novo protein folding GO:0006458 9.67 BBS12 MKKS
31 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.67 BBS2 BBS4 MKKS
32 negative regulation of actin filament polymerization GO:0030837 9.66 BBS4 MKKS
33 face development GO:0060324 9.66 BBS4 MKKS
34 protein localization to organelle GO:0033365 9.65 BBS2 BBS4
35 artery smooth muscle contraction GO:0014824 9.65 BBS2 MKKS
36 sensory processing GO:0050893 9.62 BBS4 TTC8
37 pigment granule aggregation in cell center GO:0051877 9.61 BBS7 MKKS
38 non-motile cilium assembly GO:1905515 9.23 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
39 protein transport GO:0015031 10.13 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
40 response to stimulus GO:0050896 10.11 ARL6 BBS1 BBS10 BBS2 BBS4 BBS5
41 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 9.96 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
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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