MCID: BRD002
MIFTS: 63

Bardet-Biedl Syndrome

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

Aliases & Classifications for Bardet-Biedl Syndrome

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:



Summaries for Bardet-Biedl Syndrome

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 Hormone Antagonists and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include kidney, prostate and liver, 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

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 333)
# 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 6 35.3 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
5 bardet-biedl syndrome 4 35.3 BBS1 BBS2 BBS4
6 bardet-biedl syndrome 3 35.3 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
7 bardet-biedl syndrome 18 35.3 BBS1 BBS2 BBS4 BBS7 TTC8
8 bardet-biedl syndrome 17 35.3 BBS1 BBS2 BBS4 BBS7 BBS9
9 bardet-biedl syndrome 8 35.3 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
10 bardet-biedl syndrome 7 35.3 BBS12 BBS7
11 bardet-biedl syndrome 14 35.3 BBS1 BBS10 BBS12 BBS2 BBS9 CEP290
12 bardet-biedl syndrome 19 35.3 BBS10 BBS2 IFT27
13 bardet-biedl syndrome 16 35.2 BBS1 SDCCAG8
14 bardet-biedl syndrome 15 35.1 BBS2 BBS4 MKKS TMEM67 WDPCP
15 bardet-biedl syndrome 13 35.1 BBS1 BBS10 BBS12 BBS2 BBS4 CEP290
16 bardet-biedl syndrome 5 35.0 BBS2 BBS5
17 polydactyly 32.0 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
18 mckusick-kaufman syndrome 31.7 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
19 pathologic nystagmus 31.3 CEP290 MKS1 TMEM67 WDPCP
20 fundus dystrophy 31.3 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
21 retinitis pigmentosa 31.2 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
22 nonsyndromic retinitis pigmentosa 31.2 BBS1 BBS2 TTC8
23 encephalocele 31.1 CEP290 MKS1 TMEM67
24 bardet-biedl syndrome 2 13.1
25 bardet-biedl syndrome 10 13.0
26 bardet-biedl syndrome 9 13.0
27 bardet-biedl syndrome 20 12.9
28 bardet-biedl syndrome 21 12.9
29 alstrom syndrome 11.9
30 laurence-moon syndrome 11.9
31 vaginal atresia 11.7
32 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.5
33 biemond syndrome 11.4
34 nijmegen breakage syndrome 11.1
35 hydrolethalus syndrome 1 10.6 BBS2 BBS4 MKS1 TMEM67
36 retinitis 10.5
37 situs inversus 10.5
38 meckel syndrome, type 4 10.5 CEP290 MKS1
39 meckel syndrome, type 2 10.5 MKS1 TMEM67
40 nephronophthisis 15 10.5 BBS5 BBS9
41 joubert syndrome 17 10.5 CEP290 NPHP1 WDPCP
42 joubert syndrome 6 10.5 CEP290 MKS1 NPHP1 TMEM67
43 diabetes mellitus 10.5
44 end stage renal failure 10.5
45 kidney disease 10.5
46 retinal degeneration 10.5
47 meckel syndrome, type 3 10.5 CEP290 MKS1 NPHP1 TMEM67
48 nephronophthisis 11 10.5 CEP290 NPHP1 SDCCAG8 TMEM67
49 nephronophthisis 7 10.5 BBS1 NPHP1 TRIM32
50 meckel syndrome, type 6 10.5 MKS1 NPHP1 TMEM67 WDPCP

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:

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

Drugs & Therapeutics for Bardet-Biedl Syndrome

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 3,Phase 2
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
3 Hormones Phase 3,Phase 2
4 alpha-MSH Phase 3,Phase 2 581-05-5
5 Liver Extracts
6 Insulin, Globin Zinc
7 insulin

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 Withdrawn 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

Genetic Tests for Bardet-Biedl Syndrome

Genetic tests related to Bardet-Biedl Syndrome:

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

Anatomical Context for Bardet-Biedl Syndrome

MalaCards organs/tissues related to Bardet-Biedl Syndrome:

42
Kidney, Prostate, Liver, Brain, Bone, Ovary, Pituitary

Publications for Bardet-Biedl Syndrome

Articles related to Bardet-Biedl Syndrome:

(show top 50) (show all 558)
# Title Authors Year
1
Acute myocardial infarction and haemodynamic stroke in a young patient with Bardet-Biedl syndrome. ( 31040148 )
2019
2
Characterization of Bardet-Biedl syndrome by postmortem microfocus computed tomography (micro-CT). ( 30079607 )
2019
3
Anesthetic Management of a Pediatric Patient With Bardet-Biedl Syndrome: A Case Report. ( 30234512 )
2019
4
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. ( 30293640 )
2019
5
Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation. ( 30446775 )
2019
6
Rarity of Laurence Moon Bardet Biedl Syndrome and its Poor Management in the Pakistani Population. ( 31058008 )
2019
7
Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report. ( 31022684 )
2019
8
Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. ( 30902542 )
2019
9
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. ( 30901771 )
2019
10
Novel splicing variant c. 208+2T>C in  BBS5  segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. ( 30850397 )
2019
11
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome. ( 30839500 )
2019
12
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. ( 30793792 )
2019
13
Cutaneous findings in Bardet-Biedl syndrome. ( 30790276 )
2019
14
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. ( 30761183 )
2019
15
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. ( 30723319 )
2019
16
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. ( 30614526 )
2019
17
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. ( 30484961 )
2019
18
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. ( 29126234 )
2018
19
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. ( 29127258 )
2018
20
Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes. ( 29232001 )
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
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion. ( 29367880 )
2018
23
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population. ( 29409041 )
2018
24
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. ( 29445114 )
2018
25
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes. ( 29482283 )
2018
26
Managing Bardet-Biedl Syndrome-Now and in the Future. ( 29487844 )
2018
27
Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome. ( 29539623 )
2018
28
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. ( 29633607 )
2018
29
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. ( 29666954 )
2018
30
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. ( 29806606 )
2018
31
Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome. ( 29854508 )
2018
32
Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (Bbs1M390R/M390R): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation. ( 29971011 )
2018
33
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing. ( 30073714 )
2018
34
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
35
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
36
A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome ( 30335236 )
2018
37
Ciliopathy: Bardet-Biedl Syndrome. ( 30578506 )
2018
38
Clinical assessment of balance using BBS and SARAbal in cerebellar ataxia: Synthesis of findings of a psychometric property analysis. ( 30930579 )
2018
39
The Use of a Magnetic Port Finder in the Retrieval of Air Rifle BBs to the Upper Extremity. ( 29622408 )
2018
40
Detection of plastic BBs on CT scanning of the orbit. ( 30119810 )
2018
41
[Bardet-Biedl syndrome and Kidney failure: a case report]. ( 29390243 )
2018
42
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome. ( 27879052 )
2017
43
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
44
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. ( 28237838 )
2017
45
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. ( 28352024 )
2017
46
Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing. ( 28396767 )
2017
47
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ( 28502102 )
2017
48
Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms. ( 28511423 )
2017
49
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336 )
2017
50
Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. ( 28566787 )
2017

Variations for Bardet-Biedl Syndrome

ClinVar genetic disease variations for Bardet-Biedl Syndrome:

6 (show top 50) (show all 1864)
# 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 BBS12 NM_152618.2(BBS12): c.1114_1115del (p.Phe372Terfs) deletion Pathogenic/Likely pathogenic rs587777803 GRCh37 Chromosome 4, 123664162: 123664163
6 BBS12 NM_152618.2(BBS12): c.1114_1115del (p.Phe372Terfs) deletion Pathogenic/Likely pathogenic rs587777803 GRCh38 Chromosome 4, 122743007: 122743008
7 CCDC28B NM_024296.4(CCDC28B): c.330C> T (p.Phe110=) single nucleotide variant risk factor rs41263993 GRCh37 Chromosome 1, 32669645: 32669645
8 CCDC28B NM_024296.4(CCDC28B): c.330C> T (p.Phe110=) single nucleotide variant risk factor rs41263993 GRCh38 Chromosome 1, 32204044: 32204044
9 BBS10 NM_024685.4(BBS10): c.271dup (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh38 Chromosome 12, 76347714: 76347714
10 BBS10 NM_024685.4(BBS10): c.271dup (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh37 Chromosome 12, 76741494: 76741494
11 TTC8 NM_198309.3(TTC8): c.1019+2_1019+4delTGC deletion Pathogenic rs587777807 GRCh38 Chromosome 14, 88870200: 88870202
12 TTC8 NM_198309.3(TTC8): c.1019+2_1019+4delTGC deletion Pathogenic rs587777807 GRCh37 Chromosome 14, 89336544: 89336546
13 TTC8 NM_198309.3(TTC8): c.459G> A (p.Thr153=) single nucleotide variant Conflicting interpretations of pathogenicity rs119103286 GRCh37 Chromosome 14, 89307540: 89307540
14 TTC8 NM_198309.3(TTC8): c.459G> A (p.Thr153=) single nucleotide variant Conflicting interpretations of pathogenicity rs119103286 GRCh38 Chromosome 14, 88841196: 88841196
15 BBS9 NM_198428.2(BBS9): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs137852856 GRCh37 Chromosome 7, 33423280: 33423280
16 BBS9 NM_198428.2(BBS9): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs137852856 GRCh38 Chromosome 7, 33383668: 33383668
17 BBS9 NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs) deletion Pathogenic rs606231137 GRCh38 Chromosome 7, 33383753: 33383756
18 BBS9 NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs) deletion Pathogenic rs606231137 GRCh37 Chromosome 7, 33423365: 33423368
19 BBS7 NM_176824.2(BBS7): c.632C> T (p.Thr211Ile) single nucleotide variant Pathogenic rs119466002 GRCh37 Chromosome 4, 122775945: 122775945
20 BBS7 NM_176824.2(BBS7): c.632C> T (p.Thr211Ile) single nucleotide variant Pathogenic rs119466002 GRCh38 Chromosome 4, 121854790: 121854790
21 BBS2 NM_031885.3(BBS2): c.72C> G (p.Tyr24Ter) single nucleotide variant Pathogenic rs121908175 GRCh37 Chromosome 16, 56553703: 56553703
22 BBS2 NM_031885.3(BBS2): c.72C> G (p.Tyr24Ter) single nucleotide variant Pathogenic rs121908175 GRCh38 Chromosome 16, 56519791: 56519791
23 BBS2 NM_031885.3(BBS2): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908176 GRCh37 Chromosome 16, 56548535: 56548535
24 BBS2 NM_031885.3(BBS2): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908176 GRCh38 Chromosome 16, 56514623: 56514623
25 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh37 Chromosome 16, 56536702: 56536702
26 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh38 Chromosome 16, 56502790: 56502790
27 BBS2 NM_031885.3(BBS2): c.311A> C (p.Asp104Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121908179 GRCh37 Chromosome 16, 56548399: 56548399
28 BBS2 NM_031885.3(BBS2): c.311A> C (p.Asp104Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121908179 GRCh38 Chromosome 16, 56514487: 56514487
29 BBS2 NM_031885.3(BBS2): c.1895G> C (p.Arg632Pro) single nucleotide variant Pathogenic rs138043021 GRCh38 Chromosome 16, 56496982: 56496982
30 BBS2 NM_031885.3(BBS2): c.1895G> C (p.Arg632Pro) single nucleotide variant Pathogenic rs138043021 GRCh37 Chromosome 16, 56530894: 56530894
31 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh37 Chromosome 9, 119461480: 119461480
32 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh38 Chromosome 9, 116699201: 116699201
33 TRIM32 NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser) single nucleotide variant Pathogenic rs111033571 GRCh37 Chromosome 9, 119460409: 119460409
34 TRIM32 NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser) single nucleotide variant Pathogenic rs111033571 GRCh38 Chromosome 9, 116698130: 116698130
35 TRIM32 NM_012210.3(TRIM32): c.1181G> A (p.Arg394His) single nucleotide variant Uncertain significance rs121434447 GRCh37 Chromosome 9, 119461202: 119461202
36 TRIM32 NM_012210.3(TRIM32): c.1181G> A (p.Arg394His) single nucleotide variant Uncertain significance rs121434447 GRCh38 Chromosome 9, 116698923: 116698923
37 BBS4 NM_033028.4(BBS4): c.77-220delA deletion Pathogenic rs113994189 GRCh37 Chromosome 15, 73001821: 73001821
38 BBS4 NM_033028.4(BBS4): c.77-220delA deletion Pathogenic rs113994189 GRCh38 Chromosome 15, 72709480: 72709480
39 BBS4 NM_033028.4(BBS4): c.157-2A> G single nucleotide variant Pathogenic rs113994192 GRCh37 Chromosome 15, 73004583: 73004583
40 BBS4 NM_033028.4(BBS4): c.157-2A> G single nucleotide variant Pathogenic rs113994192 GRCh38 Chromosome 15, 72712242: 72712242
41 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
42 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh38 Chromosome 11, 66526181: 66526181
43 BBS1 NM_024649.4(BBS1): c.1645G> T (p.Glu549Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917777 GRCh37 Chromosome 11, 66299163: 66299163
44 BBS1 NM_024649.4(BBS1): c.1645G> T (p.Glu549Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917777 GRCh38 Chromosome 11, 66531692: 66531692
45 BBS1 NM_024649.4(BBS1): c.432+1G> A single nucleotide variant Likely pathogenic rs587777829 GRCh38 Chromosome 11, 66514679: 66514679
46 BBS1 NM_024649.4(BBS1): c.432+1G> A single nucleotide variant Likely pathogenic rs587777829 GRCh37 Chromosome 11, 66282150: 66282150
47 BBS1 NM_024649.4(BBS1): c.700G> A (p.Glu234Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs35520756 GRCh37 Chromosome 11, 66287196: 66287196
48 BBS1 NM_024649.4(BBS1): c.700G> A (p.Glu234Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs35520756 GRCh38 Chromosome 11, 66519725: 66519725
49 MKKS NM_170784.2(MKKS): c.-674_-673insTGGCGGCCTG insertion Benign rs16996729 GRCh37 Chromosome 20, 10414780: 10414781
50 MKKS NM_170784.2(MKKS): c.-674_-673insTGGCGGCCTG insertion Benign rs16996729 GRCh38 Chromosome 20, 10434132: 10434133

Expression for Bardet-Biedl Syndrome

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

Pathways for Bardet-Biedl Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
2
Show member pathways
11.39 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4

GO Terms for Bardet-Biedl Syndrome

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 axoneme GO:0005930 9.91 ARL6 BBS1 BBS5 BBS7 WDPCP
4 cilium GO:0005929 9.89 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
5 ciliary transition zone GO:0035869 9.88 BBS4 BBS9 CEP290 MKS1 TMEM67
6 centriole GO:0005814 9.87 BBS4 CEP290 MKS1 SDCCAG8
7 ciliary membrane GO:0060170 9.86 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
8 centriolar satellite GO:0034451 9.85 BBS4 BBS5 BBS9 CEP290 SDCCAG8
9 photoreceptor connecting cilium GO:0032391 9.83 BBS4 CEP290 NPHP1 TTC8
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

Sources for Bardet-Biedl Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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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
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