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BBS
MCID: BRD002
MIFTS: 65

Bardet-Biedl Syndrome (BBS)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Bardet-Biedl Syndrome

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MalaCards integrated aliases for Bardet-Biedl Syndrome:

Name: Bardet-Biedl Syndrome 12 77 25 54 26 60 38 30 56 6 45 15 41 74
Bbs 54 26 60
Biedl-Bardet Syndrome 25 54

Characteristics:

Orphanet epidemiological data:

60
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:

25
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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Metabolic diseases
Anatomical: Eye diseases Gastrointestinal diseases Nephrological diseases Reproductive diseases Endocrine diseases Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare eye diseases
Rare gastroenterological diseases
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Bardet-Biedl Syndrome

About this section
NIH Rare Diseases : 54 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 many 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 1. 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 Hormones and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include kidney, pituitary and eye, and related phenotypes are obesity and intellectual disability

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 : 26 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 : 77 Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

GeneReviews: NBK1363
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Related Diseases for Bardet-Biedl Syndrome

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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 306)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 11 35.4 BBS12 BBS5 BBS9 TRIM32
2 bardet-biedl syndrome 1 35.4 ARL6 BBS1 BBS10 BBS2 BBS4 BBS7
3 bardet-biedl syndrome 12 35.4 BBS12 WDPCP
4 bardet-biedl syndrome 4 35.3 BBS1 BBS2 BBS4
5 bardet-biedl syndrome 3 35.3 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
6 bardet-biedl syndrome 7 35.2 BBS12 BBS7
7 bardet-biedl syndrome 19 35.2 BBS10 BBS2 IFT27
8 bardet-biedl syndrome 6 35.1 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
9 bardet-biedl syndrome 18 35.1 BBS1 BBS2 BBS4 BBS7 TTC8
10 bardet-biedl syndrome 17 35.1 BBS1 BBS2 BBS4 BBS7 BBS9
11 bardet-biedl syndrome 8 35.1 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
12 bardet-biedl syndrome 15 35.1 BBS2 BBS4 MKKS TMEM67 WDPCP
13 bardet-biedl syndrome 14 35.1 BBS1 BBS10 BBS12 BBS2 BBS9 CEP290
14 bardet-biedl syndrome 16 35.0 BBS1 SDCCAG8
15 bardet-biedl syndrome 5 35.0 BBS2 BBS5
16 bardet-biedl syndrome 13 34.9 BBS1 BBS10 BBS12 BBS2 BBS4 CEP290
17 polydactyly 32.0 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
18 mckusick-kaufman syndrome 31.6 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
19 fundus dystrophy 31.3 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
20 retinitis pigmentosa 31.2 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
21 nonsyndromic retinitis pigmentosa 31.2 BBS1 BBS2 TTC8
22 encephalocele 31.1 CEP290 MKS1 TMEM67
23 bardet-biedl syndrome 2 13.1
24 bardet-biedl syndrome 10 13.0
25 bardet-biedl syndrome 9 12.9
26 bardet-biedl syndrome 20 12.8
27 bardet-biedl syndrome 21 12.8
28 alstrom syndrome 11.8
29 vaginal atresia 11.7
30 laurence-moon syndrome 11.5
31 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.5
32 biemond syndrome 11.4
33 nijmegen breakage syndrome 11.1
34 retinitis 10.6
35 situs inversus 10.6
36 hydrolethalus syndrome 1 10.6 BBS2 BBS4 MKS1 TMEM67
37 pathologic nystagmus 10.5 CEP290 MKS1 TMEM67 WDPCP
38 meckel syndrome, type 4 10.5 CEP290 MKS1
39 diabetes mellitus 10.5
40 kidney disease 10.5
41 retinal degeneration 10.5
42 meckel syndrome, type 2 10.5 MKS1 TMEM67
43 nephronophthisis 15 10.5 BBS5 BBS9
44 joubert syndrome 17 10.5 CEP290 NPHP1 WDPCP
45 joubert syndrome 6 10.5 CEP290 MKS1 NPHP1 TMEM67
46 meckel syndrome, type 3 10.5 CEP290 MKS1 NPHP1 TMEM67
47 nephronophthisis 11 10.5 CEP290 NPHP1 SDCCAG8 TMEM67
48 nephronophthisis 7 10.5 BBS1 NPHP1 TRIM32
49 meckel syndrome, type 6 10.5 MKS1 NPHP1 TMEM67 WDPCP
50 retinal aplasia 10.5 CEP290 NPHP1 SDCCAG8

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



Diseases related to Bardet-Biedl Syndrome
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Symptoms & Phenotypes for Bardet-Biedl Syndrome

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Human phenotypes related to Bardet-Biedl Syndrome:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001513
2 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
3 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
4 multicystic kidney dysplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000003
5 postaxial hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001162
6 pigmentary retinopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000580
7 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
8 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
9 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
10 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
11 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
12 hypoplasia of the ovary 60 33 frequent (33%) Frequent (79-30%) HP:0008724
13 short neck 60 33 occasional (7.5%) Occasional (29-5%) HP:0000470
14 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
15 neurological speech impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0002167
16 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
17 skeletal muscle atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0003202
18 generalized hirsutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002230
19 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
20 hepatic fibrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001395
21 nephrotic syndrome 60 33 occasional (7.5%) Occasional (29-5%) HP:0000100
22 prominent nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0000426
23 low-set, posteriorly rotated ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000368
24 downslanted palpebral fissures 60 33 occasional (7.5%) Occasional (29-5%) HP:0000494
25 medial flaring of the eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0010747

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

47 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.47 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
2 cellular MP:0005384 10.41 ARL6 BBS1 BBS10 BBS2 BBS4 BBS7
3 cardiovascular system MP:0005385 10.33 ARL6 BBS1 BBS4 BBS5 BBS7 CEP290
4 nervous system MP:0003631 10.33 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
5 behavior/neurological MP:0005386 10.3 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
6 craniofacial MP:0005382 10.3 ARL6 BBS1 BBS4 BBS7 CEP290 IFT27
7 homeostasis/metabolism MP:0005376 10.29 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
8 mortality/aging MP:0010768 10.21 BBS1 BBS10 BBS4 BBS7 CEP290 IFT27
9 limbs/digits/tail MP:0005371 10.2 BBS1 BBS2 BBS5 BBS7 BBS9 IFT27
10 renal/urinary system MP:0005367 10.18 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
11 adipose tissue MP:0005375 10.17 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
12 digestive/alimentary MP:0005381 10.11 BBS2 BBS4 BBS7 IFT27 MKS1 SDCCAG8
13 reproductive system MP:0005389 10.02 ARL6 BBS1 BBS2 BBS4 BBS7 CEP290
14 respiratory system MP:0005388 9.91 BBS1 BBS4 CEP290 IFT27 IFT74 MKKS
15 skeleton MP:0005390 9.76 ARL6 BBS12 BBS5 BBS9 CEP290 IFT27
16 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 BBS7 CEP290 MKKS
17 vision/eye MP:0005391 9.5 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
Sources

Drugs & Therapeutics for Bardet-Biedl Syndrome

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 3,Phase 2
2 alpha-MSH Phase 3,Phase 2 581-05-5
3 Hormone Antagonists Phase 3,Phase 2
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
5
Metformin Approved Phase 2 657-24-9 14219 4091
6 Hypoglycemic Agents Phase 2
7 Liver Extracts
8 insulin
9 Insulin, Globin Zinc

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
2 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
3 Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement Not yet recruiting NCT03490019 Phase 2 Metformin
4 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
5 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
6 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
7 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
8 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
9 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
10 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
11 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

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Genetic Tests for Bardet-Biedl Syndrome

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Genetic tests related to Bardet-Biedl Syndrome:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 30 BBS1 BBS4 MKKS SDCCAG8
Sources

Anatomical Context for Bardet-Biedl Syndrome

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MalaCards organs/tissues related to Bardet-Biedl Syndrome:

42
Kidney, Pituitary, Eye, Liver, Brain, Ovary, Skeletal Muscle
Sources

Publications for Bardet-Biedl Syndrome

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Articles related to Bardet-Biedl Syndrome:

(show top 50) (show all 531)
# Title Authors Year
1
Bardet-Biedl syndrome - antenatal presentation of 45 fetuses with biallelic pathogenic variants in known BBS genes. ( 30614526 )
2019
2
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. ( 30723319 )
2019
3
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. ( 30761183 )
2019
4
Cutaneous findings in Bardet-Biedl syndrome. ( 30790276 )
2019
5
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. ( 30793792 )
2019
6
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome. ( 30839500 )
2019
7
Novel splicing variant c. 208+2T>C in  BBS5  segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. ( 30850397 )
2019
8
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. ( 30901771 )
2019
9
Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. ( 30902542 )
2019
10
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. ( 29445114 )
2018
11
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. ( 29666954 )
2018
12
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. ( 29633607 )
2018
13
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. ( 29806606 )
2018
14
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
15
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
16
[Bardet-Biedl syndrome and Kidney failure: a case report]. ( 29390243 )
2018
17
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes. ( 29482283 )
2018
18
Managing Bardet-Biedl Syndrome-Now and in the Future. ( 29487844 )
2018
19
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. ( 29126234 )
2018
20
The Endocrine and Metabolic Characteristics of a large Bardet-Biedl syndrome clinic population. ( 29409041 )
2018
21
The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export. ( 29339469 )
2018
22
Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome. ( 29854508 )
2018
23
Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome. ( 29539623 )
2018
24
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing. ( 30073714 )
2018
25
Characterisation of Bardet Biedl Syndrome by post-mortem microfocus computed tomography (micro-CT). ( 30079607 )
2018
26
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. ( 30142598 )
2018
27
Anesthetic Management of a Pediatric Patient With Bardet-Biedl Syndrome. ( 30234512 )
2018
28
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. ( 30293640 )
2018
29
Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. ( 30312873 )
2018
30
A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome ( 30335236 )
2018
31
Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation. ( 30446775 )
2018
32
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. ( 30484961 )
2018
33
Ciliopathy: Bardet-Biedl Syndrome. ( 30578506 )
2018
34
The Use of a Magnetic Port Finder in the Retrieval of Air Rifle BBs to the Upper Extremity. ( 29622408 )
2018
35
Detection of plastic BBs on CT scanning of the orbit. ( 30119810 )
2018
36
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). ( 28824921 )
2017
37
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. ( 28761321 )
2017
38
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
39
The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect. ( 28868293 )
2017
40
Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. ( 28566787 )
2017
41
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. ( 28624958 )
2017
42
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. ( 28237838 )
2017
43
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. ( 28352024 )
2017
44
Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing. ( 28396767 )
2017
45
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336 )
2017
46
<i>FBN3</i> gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome. ( 29156830 )
2017
47
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. ( 29457131 )
2017
48
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ( 28502102 )
2017
49
Toward personalized medicine in Bardet-Biedl syndrome. ( 29754569 )
2017
50
Impact of Local and Systemic Factors on Kidney Dysfunction in Bardet-Biedl Syndrome. ( 29161709 )
2017
Sources

Variations for Bardet-Biedl Syndrome

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ClinVar genetic disease variations for Bardet-Biedl Syndrome:

6 (show top 50) (show all 1864)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS12 NM_152618.2(BBS12): c.1157G> A (p.Arg386Gln) single nucleotide variant Benign rs309370 GRCh37 Chromosome 4, 123664204: 123664204
2 BBS12 NM_152618.2(BBS12): c.1157G> A (p.Arg386Gln) single nucleotide variant Benign rs309370 GRCh38 Chromosome 4, 122743049: 122743049
3 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh37 Chromosome 12, 88480220: 88480220
4 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh38 Chromosome 12, 88086443: 88086443
5 TRIM32 NM_012210.3(TRIM32): c.257T> C (p.Ile86Thr) single nucleotide variant Uncertain significance rs200326473 GRCh37 Chromosome 9, 119460278: 119460278
6 TRIM32 NM_012210.3(TRIM32): c.257T> C (p.Ile86Thr) single nucleotide variant Uncertain significance rs200326473 GRCh38 Chromosome 9, 116697999: 116697999
7 BBS10 NM_024685.4(BBS10): c.1616C> T (p.Pro539Leu) single nucleotide variant Benign/Likely benign rs35676114 GRCh37 Chromosome 12, 76740149: 76740149
8 BBS10 NM_024685.4(BBS10): c.1616C> T (p.Pro539Leu) single nucleotide variant Benign/Likely benign rs35676114 GRCh38 Chromosome 12, 76346369: 76346369
9 BBS12 NM_152618.2(BBS12): c.1399G> A (p.Asp467Asn) single nucleotide variant Benign/Likely benign rs13135778 GRCh37 Chromosome 4, 123664446: 123664446
10 BBS12 NM_152618.2(BBS12): c.1399G> A (p.Asp467Asn) single nucleotide variant Benign/Likely benign rs13135778 GRCh38 Chromosome 4, 122743291: 122743291
11 BBS9 NM_198428.2(BBS9): c.1993C> T (p.Leu665Phe) single nucleotide variant Benign/Likely benign rs116262072 GRCh37 Chromosome 7, 33427634: 33427634
12 BBS9 NM_198428.2(BBS9): c.1993C> T (p.Leu665Phe) single nucleotide variant Benign/Likely benign rs116262072 GRCh38 Chromosome 7, 33388022: 33388022
13 BBS10 NM_024685.4(BBS10): c.1631A> G (p.Asn544Ser) single nucleotide variant Benign/Likely benign rs34737974 GRCh37 Chromosome 12, 76740134: 76740134
14 BBS10 NM_024685.4(BBS10): c.1631A> G (p.Asn544Ser) single nucleotide variant Benign/Likely benign rs34737974 GRCh38 Chromosome 12, 76346354: 76346354
15 BBS7 NM_176824.2(BBS7): c.280A> T (p.Thr94Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs202102193 GRCh37 Chromosome 4, 122782720: 122782720
16 BBS7 NM_176824.2(BBS7): c.280A> T (p.Thr94Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs202102193 GRCh38 Chromosome 4, 121861565: 121861565
17 BBS10 NM_024685.3(BBS10): c.1091delA (p.Asn364Thrfs) deletion Pathogenic/Likely pathogenic rs727503818 GRCh37 Chromosome 12, 76740674: 76740674
18 BBS10 NM_024685.3(BBS10): c.1091delA (p.Asn364Thrfs) deletion Pathogenic/Likely pathogenic rs727503818 GRCh38 Chromosome 12, 76346894: 76346894
19 BBS12 NM_152618.2(BBS12): c.1380G> C (p.Val460=) single nucleotide variant Benign/Likely benign rs13135766 GRCh37 Chromosome 4, 123664427: 123664427
20 BBS12 NM_152618.2(BBS12): c.1380G> C (p.Val460=) single nucleotide variant Benign/Likely benign rs13135766 GRCh38 Chromosome 4, 122743272: 122743272
21 BBS12 NM_152618.2(BBS12): c.1410C> T (p.Cys470=) single nucleotide variant Benign/Likely benign rs13135445 GRCh37 Chromosome 4, 123664457: 123664457
22 BBS12 NM_152618.2(BBS12): c.1410C> T (p.Cys470=) single nucleotide variant Benign/Likely benign rs13135445 GRCh38 Chromosome 4, 122743302: 122743302
23 BBS12 NM_152618.2(BBS12): c.1506C> T (p.Ala502=) single nucleotide variant Conflicting interpretations of pathogenicity rs144855583 GRCh37 Chromosome 4, 123664553: 123664553
24 BBS12 NM_152618.2(BBS12): c.1506C> T (p.Ala502=) single nucleotide variant Conflicting interpretations of pathogenicity rs144855583 GRCh38 Chromosome 4, 122743398: 122743398
25 BBS12 NM_152618.2(BBS12): c.1872A> G (p.Gln624=) single nucleotide variant Benign/Likely benign rs13102440 GRCh37 Chromosome 4, 123664919: 123664919
26 BBS12 NM_152618.2(BBS12): c.1872A> G (p.Gln624=) single nucleotide variant Benign/Likely benign rs13102440 GRCh38 Chromosome 4, 122743764: 122743764
27 BBS7 NM_176824.2(BBS7): c.1512-7A> T single nucleotide variant Benign/Likely benign rs115987385 GRCh37 Chromosome 4, 122754557: 122754557
28 BBS7 NM_176824.2(BBS7): c.1512-7A> T single nucleotide variant Benign/Likely benign rs115987385 GRCh38 Chromosome 4, 121833402: 121833402
29 CEP290 NM_025114.3(CEP290): c.6522+12dupT duplication Benign rs11405846 GRCh37 Chromosome 12, 88454595: 88454595
30 CEP290 NM_025114.3(CEP290): c.6522+12dupT duplication Benign rs11405846 GRCh38 Chromosome 12, 88060818: 88060818
31 CEP290 NM_025114.3(CEP290): c.5055G> A (p.Ala1685=) single nucleotide variant Uncertain significance rs73192874 GRCh37 Chromosome 12, 88474130: 88474130
32 CEP290 NM_025114.3(CEP290): c.5055G> A (p.Ala1685=) single nucleotide variant Uncertain significance rs73192874 GRCh38 Chromosome 12, 88080353: 88080353
33 CEP290 NM_025114.3(CEP290): c.853-12_853-11insG insertion Benign rs71082425 GRCh37 Chromosome 12, 88522823: 88522824
34 CEP290 NM_025114.3(CEP290): c.853-12_853-11insG insertion Benign rs71082425 GRCh38 Chromosome 12, 88129046: 88129047
35 SDCCAG8 NM_006642.4(SDCCAG8): c.267T> C (p.Ser89=) single nucleotide variant Conflicting interpretations of pathogenicity rs148818431 GRCh37 Chromosome 1, 243434326: 243434326
36 SDCCAG8 NM_006642.4(SDCCAG8): c.267T> C (p.Ser89=) single nucleotide variant Conflicting interpretations of pathogenicity rs148818431 GRCh38 Chromosome 1, 243271024: 243271024
37 WDPCP NM_015910.6(WDPCP): c.1315G> A (p.Val439Ile) single nucleotide variant Benign rs199676595 GRCh37 Chromosome 2, 63631303: 63631303
38 WDPCP NM_015910.6(WDPCP): c.1315G> A (p.Val439Ile) single nucleotide variant Benign rs199676595 GRCh38 Chromosome 2, 63404168: 63404168
39 BBS7 NM_176824.2(BBS7): c.2063A> G (p.Asn688Ser) single nucleotide variant Uncertain significance rs370656021 GRCh37 Chromosome 4, 122747100: 122747100
40 BBS7 NM_176824.2(BBS7): c.2063A> G (p.Asn688Ser) single nucleotide variant Uncertain significance rs370656021 GRCh38 Chromosome 4, 121825945: 121825945
41 BBS12 NM_152618.2(BBS12): c.1139C> T (p.Thr380Ile) single nucleotide variant Uncertain significance rs752254471 GRCh37 Chromosome 4, 123664186: 123664186
42 BBS12 NM_152618.2(BBS12): c.1139C> T (p.Thr380Ile) single nucleotide variant Uncertain significance rs752254471 GRCh38 Chromosome 4, 122743031: 122743031
43 TTC8 NM_198309.3(TTC8): c.454G> C (p.Gly152Arg) single nucleotide variant Uncertain significance rs753150258 GRCh38 Chromosome 14, 88841191: 88841191
44 TTC8 NM_198309.3(TTC8): c.454G> C (p.Gly152Arg) single nucleotide variant Uncertain significance rs753150258 GRCh37 Chromosome 14, 89307535: 89307535
45 BBS1 NM_024649.4(BBS1): c.436C> T (p.Arg146Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204444 GRCh38 Chromosome 11, 66515543: 66515543
46 BBS1 NM_024649.4(BBS1): c.436C> T (p.Arg146Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204444 GRCh37 Chromosome 11, 66283014: 66283014
47 BBS1 NM_024649.4(BBS1): c.1131_1135delCTTTG (p.Cys377Trpfs) deletion Likely pathogenic rs786204701 GRCh38 Chromosome 11, 66526143: 66526147
48 BBS1 NM_024649.4(BBS1): c.1131_1135delCTTTG (p.Cys377Trpfs) deletion Likely pathogenic rs786204701 GRCh37 Chromosome 11, 66293614: 66293618
49 BBS1 NM_024649.4(BBS1): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic/Likely pathogenic rs768443448 GRCh37 Chromosome 11, 66294224: 66294224
50 BBS1 NM_024649.4(BBS1): c.1285C> T (p.Arg429Ter) single nucleotide variant Pathogenic/Likely pathogenic rs768443448 GRCh38 Chromosome 11, 66526753: 66526753
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Expression for Bardet-Biedl Syndrome

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

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

# Super pathways Score Top Affiliating Genes
1
Organelle biogenesis and maintenance 67
Show member pathways
 12.64 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
2
Cargo trafficking to the periciliary membrane 67
Show member pathways
 11.39 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
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GO Terms for Bardet-Biedl Syndrome

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 motile cilium GO:0031514 9.97 BBS2 BBS4 IFT27 IFT74 MKKS NPHP1
2 ciliary basal body GO:0036064 9.97 BBS1 BBS2 BBS4 BBS5 BBS7 CEP290
3 cilium GO:0005929 9.89 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
4 ciliary transition zone GO:0035869 9.88 BBS4 BBS9 CEP290 MKS1 TMEM67
5 centriole GO:0005814 9.87 BBS4 CEP290 MKS1 SDCCAG8
6 ciliary membrane GO:0060170 9.86 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
7 photoreceptor connecting cilium GO:0032391 9.83 BBS4 CEP290 NPHP1 TTC8
8 axoneme GO:0005930 9.81 ARL6 BBS1 BBS7 WDPCP
9 centriolar satellite GO:0034451 9.76 BBS4 BBS9 CEP290 SDCCAG8
10 MKS complex GO:0036038 9.72 CEP290 MKS1 TMEM67
11 intraciliary transport particle B GO:0030992 9.58 IFT27 IFT74
12 pericentriolar material GO:0000242 9.58 BBS4 BBS9
13 BBSome GO:0034464 9.17 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
14 cytoplasm GO:0005737 10.47 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
15 cytosol GO:0005829 10.4 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
16 cytoskeleton GO:0005856 10.24 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
17 centrosome GO:0005813 10.14 BBS1 BBS4 BBS7 CEP290 IFT27 IFT74
18 microtubule organizing center GO:0005815 10.13 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
19 cell projection GO:0042995 10.09 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.92 CEP290 MKS1 NPHP1 SDCCAG8 TMEM67
2 determination of left/right symmetry GO:0007368 9.88 ARL6 BBS7 IFT74 MKKS MKS1
3 photoreceptor cell maintenance GO:0045494 9.88 BBS1 BBS10 BBS12 BBS2 BBS4 MKKS
4 heart looping GO:0001947 9.87 BBS4 BBS5 BBS7 MKKS
5 fat cell differentiation GO:0045444 9.86 ARL6 BBS2 BBS4 BBS7 BBS9 MKKS
6 protein localization GO:0008104 9.83 BBS2 BBS4 BBS7
7 cerebral cortex development GO:0021987 9.83 BBS2 BBS4 MKKS
8 hippocampus development GO:0021766 9.82 BBS2 BBS4 MKKS
9 smoothened signaling pathway GO:0007224 9.82 BBS7 IFT27 WDPCP
10 negative regulation of GTPase activity GO:0034260 9.81 BBS4 MKKS TTC8
11 retina homeostasis GO:0001895 9.81 BBS1 BBS10 BBS4
12 protein localization to cilium GO:0061512 9.81 ARL6 BBS1 BBS4 BBS9
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 cilium assembly GO:0060271 9.8 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
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 intraciliary transport GO:0042073 9.77 BBS12 IFT27 IFT74
19 chaperone-mediated protein complex assembly GO:0051131 9.77 BBS10 BBS12 MKKS
20 regulation of stress fiber assembly GO:0051492 9.76 BBS4 MKKS TTC8
21 striatum development GO:0021756 9.75 BBS2 BBS4 MKKS
22 response to leptin GO:0044321 9.73 BBS2 BBS4 MKKS
23 leptin-mediated signaling pathway GO:0033210 9.72 BBS2 BBS4 MKKS
24 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.71 BBS2 BBS4 MKKS
25 Golgi to plasma membrane protein transport GO:0043001 9.68 BBS1 BBS2
26 intracellular transport GO:0046907 9.68 BBS4 MKKS
27 motile cilium assembly GO:0044458 9.68 BBS5 MKS1
28 regulation of smoothened signaling pathway GO:0008589 9.68 ARL6 MKS1
29 vasodilation GO:0042311 9.67 BBS2 MKKS
30 protein localization to organelle GO:0033365 9.67 BBS2 BBS4
31 face development GO:0060324 9.67 BBS4 MKKS
32 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.67 BBS2 BBS4 MKKS
33 negative regulation of actin filament polymerization GO:0030837 9.66 BBS4 MKKS
34 artery smooth muscle contraction GO:0014824 9.66 BBS2 MKKS
35 sensory processing GO:0050893 9.62 BBS4 TTC8
36 pigment granule aggregation in cell center GO:0051877 9.62 BBS7 MKKS
37 non-motile cilium assembly GO:1905515 9.28 BBS1 BBS10 BBS2 BBS4 BBS7 IFT74
38 protein transport GO:0015031 10.13 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
39 response to stimulus GO:0050896 10.11 ARL6 BBS1 BBS10 BBS2 BBS4 BBS5
40 visual perception GO:0007601 10.02 ARL6 BBS1 BBS10 BBS2 BBS4 BBS5
41 cell projection organization GO:0030030 10 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7

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 BBS1 BBS10 BBS12 BBS2 BBS4
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.23 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
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Sources for Bardet-Biedl Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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