BBS
MCID: BRD002
MIFTS: 66

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

Aliases & Classifications for Bardet-Biedl Syndrome

MalaCards integrated aliases for Bardet-Biedl Syndrome:

Name: Bardet-Biedl Syndrome 12 74 24 52 25 58 36 29 54 6 43 15 39 71
Bbs 52 25 58
Biedl-Bardet Syndrome 24 52

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare eye diseases
Rare gastroenterological diseases
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1935
KEGG 36 H00418
MeSH 43 D020788
NCIt 49 C118632
SNOMED-CT 67 5619004
ICD10 32 Q87.89
MESH via Orphanet 44 D020788
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C0752166
Orphanet 58 ORPHA110
UMLS 71 C0752166

Summaries for Bardet-Biedl Syndrome

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. Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood. Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia). Other major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. Most affected males produce reduced amounts of sex hormones (hypogonadism), and they are usually unable to father biological children (infertile). Many people with Bardet-Biedl syndrome also have kidney abnormalities, which can be serious or life-threatening. Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. Distinctive facial features, dental abnormalities, unusually short or fused fingers or toes, and a partial or complete loss of the sense of smell (anosmia) have also been reported in some people with Bardet-Biedl syndrome. Additionally, this condition can affect the heart, liver, and digestive system.

MalaCards based summary : Bardet-Biedl Syndrome, also known as bbs, is related to bardet-biedl syndrome 14 and bardet-biedl syndrome 6. 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 Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include kidney, retina and eye, and related phenotypes are intellectual disability and abnormal electroretinogram

Disease Ontology : 12 A syndrome 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.

NIH Rare Diseases : 52 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.

KEGG : 36 Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism, polydactyly, renal dysfunction, and mental retardation. BBS is typified by clinical variability observed both within and between families, which can be explained in part by the presence of second-site modifiers. Recent findings in genetic research have suggested that the BBS phenotype is largely associated with ciliary dysfunction.

Wikipedia : 74 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 719)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 14 36.8 WDPCP TTC8 TRIM32 TMEM67 SDCCAG8 MKKS
2 bardet-biedl syndrome 6 36.8 WDPCP TTC8 TRIM32 SDCCAG8 MKKS IFT27
3 bardet-biedl syndrome 3 36.7 TTC8 TRIM32 MKKS IFT27 CEP290 BBS9
4 bardet-biedl syndrome 1 36.7 WDPCP NPHP1 MKKS BBS9 BBS7 BBS4
5 bardet-biedl syndrome 11 36.7 WDPCP TTC8 TRIM32 SDCCAG8 MKKS CEP290
6 bardet-biedl syndrome 8 36.6 TTC8 TRIM32 MKKS IFT27 CEP290 BBS9
7 bardet-biedl syndrome 13 36.6 WDPCP TTC8 TRIM32 CEP290 BBS9 BBS7
8 bardet-biedl syndrome 18 36.6 WDPCP TTC8 SDCCAG8 IFT27 BBS9 BBS7
9 bardet-biedl syndrome 17 36.5 WDPCP TTC8 IFT27 BBS9 BBS7 BBS5
10 bardet-biedl syndrome 16 36.5 WDPCP TTC8 SDCCAG8 IFT27 BBS9 BBS7
11 bardet-biedl syndrome 19 36.5 WDPCP TTC8 IFT27 BBS9 BBS7 BBS5
12 bardet-biedl syndrome 15 36.4 WDPCP TTC8 BBS9 BBS7 BBS5 BBS4
13 bardet-biedl syndrome 10 36.2 BBS4 BBS2 BBS12 BBS10 BBS1
14 bardet-biedl syndrome 12 35.8 WDPCP BBS12
15 bardet-biedl syndrome 2 35.7 MKKS BBS2
16 retinitis pigmentosa 35.5 WDPCP TTC8 TRIM32 TMEM67 SDCCAG8 NPHP1
17 bardet-biedl syndrome 9 35.4 TTC8 BBS9
18 mckusick-kaufman syndrome 34.9 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
19 polydactyly 34.0 TTC8 SDCCAG8 MKKS IFT74 CEP290 BBS7
20 fundus dystrophy 33.9 WDPCP TTC8 TRIM32 TMEM67 SDCCAG8 NPHP1
21 inherited retinal disorder 33.4 MKKS CEP290 BBS9 BBS7 BBS5 BBS2
22 ciliopathy 33.2 TMEM67 SDCCAG8 BBS7 BBS1
23 retinal degeneration 33.2 TMEM67 NPHP1 MKKS CEP290 BBS7 BBS4
24 nephronophthisis 32.8 TMEM67 SDCCAG8 NPHP1 IFT27 CEP290 BBS7
25 meckel syndrome, type 1 32.8 WDPCP TMEM67 SDCCAG8 NPHP1 MKKS IFT74
26 retinal disease 32.7 TTC8 MKKS CEP290 BBS9 BBS7 BBS5
27 joubert syndrome 1 32.7 TMEM67 SDCCAG8 NPHP1 IFT27 CEP290 CEP19
28 leber plus disease 32.5 TTC8 TMEM67 SDCCAG8 NPHP1 MKKS CEP290
29 alstrom syndrome 32.4 NPHP1 CEP290 BBS7 BBS5 BBS4 BBS2
30 primary ciliary dyskinesia 32.2 TMEM67 NPHP1 IFT74 IFT27 CEP290 BBS5
31 pathologic nystagmus 32.2 WDPCP TMEM67 CEP290
32 cystic kidney disease 32.1 TMEM67 NPHP1 IFT27 CEP290 BBS4 BBS2
33 senior-loken syndrome 1 32.1 TMEM67 SDCCAG8 NPHP1 CEP290 BBS5 BBS4
34 polycystic kidney disease 32.1 TMEM67 BBS5 BBS4 BBS1
35 meckel syndrome, type 3 31.9 TMEM67 NPHP1 CEP290 BBS1
36 visceral heterotaxy 31.9 TMEM67 NPHP1 CEP290 BBS7 BBS4 BBS2
37 nonsyndromic retinitis pigmentosa 31.9 TTC8 BBS2 BBS1
38 nephronophthisis 2 31.8 TMEM67 SDCCAG8 NPHP1 CEP290 BBS4 BBS1
39 coloboma of macula 31.8 TMEM67 SDCCAG8 NPHP1 CEP290
40 orofaciodigital syndrome 31.7 WDPCP TMEM67 NPHP1 CEP290
41 encephalocele 31.6 TMEM67 CEP290
42 meckel syndrome, type 4 31.6 TMEM67 NPHP1 CEP290
43 retinitis pigmentosa 74 31.4 TTC8 BBS2
44 retinitis pigmentosa 55 31.3 TTC8 ARL6
45 kartagener syndrome 31.2 TMEM67 SDCCAG8 NPHP1 IFT27 CEP290 BBS4
46 nephronophthisis 15 31.1 SDCCAG8 NPHP1
47 nephronophthisis 4 30.7 TTC8 NPHP1
48 bardet-biedl syndrome 4 13.1
49 bardet-biedl syndrome 5 13.1
50 bardet-biedl syndrome 7 13.1

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:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
3 obesity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001513
4 multicystic kidney dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000003
5 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
6 pigmentary retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000580
7 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
8 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
9 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
10 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
11 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
12 hypoplasia of the ovary 58 31 frequent (33%) Frequent (79-30%) HP:0008724
13 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
14 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
15 neurological speech impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002167
16 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
17 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
18 hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001395
19 nephrotic syndrome 58 31 occasional (7.5%) Occasional (29-5%) HP:0000100
20 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
21 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
22 generalized hirsutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002230
23 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
24 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
25 medial flaring of the eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0010747

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
2 cellular MP:0005384 10.39 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
3 behavior/neurological MP:0005386 10.31 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
4 nervous system MP:0003631 10.3 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
5 cardiovascular system MP:0005385 10.26 ARL6 BBS1 BBS4 BBS5 BBS7 CEP290
6 homeostasis/metabolism MP:0005376 10.25 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
7 craniofacial MP:0005382 10.24 ARL6 BBS1 BBS4 BBS7 CEP290 IFT27
8 adipose tissue MP:0005375 10.2 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
9 renal/urinary system MP:0005367 10.1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
10 limbs/digits/tail MP:0005371 10.06 BBS1 BBS2 BBS7 BBS9 IFT27 MKKS
11 digestive/alimentary MP:0005381 10.02 BBS2 BBS4 BBS7 IFT27 SDCCAG8 TMEM67
12 reproductive system MP:0005389 9.91 ARL6 BBS1 BBS2 BBS4 BBS7 CEP290
13 respiratory system MP:0005388 9.76 BBS1 BBS4 CEP290 IFT27 IFT74 MKKS
14 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 BBS7 CEP290 MKKS
15 vision/eye MP:0005391 9.47 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc
2 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
2 A Phase 3 Trial of Setmelanotide (RM-493), a Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Active, not recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
3 Treatment of Infantile and Juvenile Patients With Bardet-Biedl-Syndrome With Metformin. Evaluation of a Visual Improvement as a Side Effect of the Pediatric Treatment of Adipositas - a Prospective Pilot Study Without Control Withdrawn NCT03490019 Phase 2 Metformin
4 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing Unknown status NCT02510989
5 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
6 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
7 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
8 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
9 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
10 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics 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 BBS1 BBS4 MKKS SDCCAG8

Anatomical Context for Bardet-Biedl Syndrome

MalaCards organs/tissues related to Bardet-Biedl Syndrome:

40
Kidney, Retina, Eye, Heart, Liver, Pituitary, Testes

Publications for Bardet-Biedl Syndrome

Articles related to Bardet-Biedl Syndrome:

(show top 50) (show all 1119)
# Title Authors PMID Year
1
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). 61 54 24 6
16606853 2006
2
Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. 6 54 24 61
15654695 2005
3
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 24 54 6 61
12567324 2003
4
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 61 54 6 24
11285252 2001
5
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. 24 6 61
24488770 2014
6
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. 61 6 24
23692385 2014
7
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). 6 61 24
24026985 2014
8
Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. 61 24 6
22626039 2012
9
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. 24 61 6
22510444 2012
10
In search of triallelism in Bardet-Biedl syndrome. 24 61 6
22353939 2012
11
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 61 24 6
18327255 2008
12
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. 61 24 6
17160889 2007
13
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 24 61 6
16582908 2006
14
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. 6 61 24
16380913 2005
15
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 61 24 6
15637713 2005
16
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 24 6 61
15314642 2004
17
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 6 24 61
15258860 2004
18
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. 6 24 61
15137946 2004
19
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. 24 6 61
14520415 2003
20
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. 6 61 24
12016587 2002
21
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 61 6 24
11567139 2001
22
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 24 6 61
11381270 2001
23
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 6 24
20835237 2010
24
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. 24 6
20671153 2010
25
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. 61 54 6
16823392 2006
26
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. 54 6 61
16308660 2006
27
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 24 6
10802661 2000
28
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. 61 6
24608809 2014
29
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. 61 6
22446187 2012
30
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 6 61
22190896 2011
31
BBS10 mutations are common in 'Meckel'-type cystic kidneys. 6 61
20805367 2010
32
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders. 6 61
20618352 2010
33
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. 6 61
18203199 2008
34
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. 61 6
17994549 2008
35
Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family. 6 61
17163542 2007
36
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. 61 24 54
17065520 2006
37
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. 61 54 24
15772095 2005
38
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. 61 54 24
15173597 2004
39
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. 54 24 61
15107855 2004
40
Bardet-Biedl Syndrome 61 6
20301537 2003
41
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 61 54 24
12677556 2003
42
The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. 54 24 61
12365916 2002
43
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 24 54 61
12118255 2002
44
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Katsanis N, Beals PL, Woods MO, Lewis RA, Green JS, Patfrey PS, Ansley SJ, Davidson WS, Lupski JR.*(1) Nat Gen 2000;26:67-70. 6 61
11341887 2001
45
Mutations in MKKS cause Bardet-Biedl syndrome. 6 61
10973238 2000
46
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. 61 6
9714014 1998
47
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. 6 61
7711739 1995
48
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. 6 61
7987310 1994
49
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. 6 61
8298649 1993
50
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. 6
25541840 2015

Variations for Bardet-Biedl Syndrome

ClinVar genetic disease variations for Bardet-Biedl Syndrome:

6 (show top 50) (show all 998) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBS9 NM_198428.3(BBS9):c.263+1G>ASNV Pathogenic 412264 rs137962929 7:33192464-33192464 7:33152852-33152852
2 BBS1 NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)SNV Pathogenic 412287 rs1060503690 11:66294179-66294179 11:66526708-66526708
3 BBS10 NM_024685.4(BBS10):c.257_261del (p.Phe86fs)deletion Pathogenic 406219 rs1060500996 12:76741504-76741508 12:76347724-76347728
4 BBS4 NM_033028.5(BBS4):c.513T>A (p.Tyr171Ter)SNV Pathogenic 412296 rs367882912 15:73016922-73016922 15:72724581-72724581
5 BBS4 NM_033028.5(BBS4):c.638T>A (p.Leu213Ter)SNV Pathogenic 412298 rs1060503692 15:73020331-73020331 15:72727990-72727990
6 CEP19 NM_032898.5(CEP19):c.182dup (p.Tyr61Ter)duplication Pathogenic 430642 rs1553794304 3:196434731-196434732 3:196707860-196707861
7 BBS10 NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)SNV Pathogenic 417949 rs375413604 12:76740088-76740088 12:76346308-76346308
8 NPHP1 GRCh37/hg19 2q13(chr2:110875689-110967529)copy number loss Pathogenic 431747 2:110875689-110967529
9 BBS10 NM_024685.4(BBS10):c.909_912del (p.Ser303fs)deletion Pathogenic 432013 rs780059308 12:76740853-76740856 12:76347073-76347076
10 BBS12 NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)SNV Pathogenic 462963 rs1381368546 4:123663151-123663151 4:122741996-122741996
11 BBS9 NM_198428.3(BBS9):c.310del (p.Cys104fs)deletion Pathogenic 462970 rs747388658 7:33195294-33195294 7:33155682-33155682
12 TRIM32 NC_000009.12:g.(?_116697723)_(116699724_?)deldeletion Pathogenic 462941 9:119460002-119462003 9:116697723-116699724
13 BBS4 NC_000015.10:g.(?_72686218)_(72686261_?)deldeletion Pathogenic 462943 15:72686218-72686261
14 BBS2 NC_000016.9:g.(?_56518653)_(56545216_?)deldeletion Pathogenic 462944 16:56518653-56545216
15 BBS10 NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer)deletion Pathogenic 496471 rs1555202584 12:76740088-76740088 12:76346308-76346308
16 BBS10 NM_024685.4(BBS10):c.39_46del (p.Ala14fs)deletion Pathogenic 521411 rs1555202806 12:76742093-76742100 12:76348313-76348320
17 BBS5 NM_152384.3(BBS5):c.265C>T (p.Arg89Ter)SNV Pathogenic 531823 rs772757329 2:170344503-170344503 2:169487993-169487993
18 BBS7 NM_176824.3(BBS7):c.542_543insAA (p.Met181fs)insertion Pathogenic 531829 rs1553933472 4:122776702-122776703 4:121855547-121855548
19 BBS7 NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter)SNV Pathogenic 531822 rs991365297 4:122756397-122756397 4:121835242-121835242
20 BBS1 NM_024649.5(BBS1):c.595_598del (p.Val199fs)deletion Pathogenic 531836 rs1555047409 11:66287089-66287092 11:66519618-66519621
21 BBS4 NM_033028.5(BBS4):c.960T>A (p.Tyr320Ter)SNV Pathogenic 531832 rs770891152 15:73023991-73023991 15:72731650-72731650
22 BBS2 NM_031885.4(BBS2):c.565C>T (p.Arg189Ter)SNV Pathogenic 550801 rs1273181642 16:56543916-56543916 16:56510004-56510004
23 WDPCP NC_000002.12:g.(?_63378386)_(63404657_?)deldeletion Pathogenic 583791 2:63605521-63631792 2:63378386-63404657
24 BBS10 NM_024685.4(BBS10):c.1452_1455del (p.Gln484fs)deletion Pathogenic 571128 rs1565809597 12:76740310-76740313 12:76346530-76346533
25 BBS9 NC_000007.13:g.(?_33423258)_(33427776_?)dupduplication Pathogenic 584143 7:33423258-33427776 7:33383646-33388164
26 BBS10 NM_024685.4(BBS10):c.999T>A (p.Cys333Ter)SNV Pathogenic 576535 rs1565809867 12:76740766-76740766 12:76346986-76346986
27 BBS2 NM_031885.4(BBS2):c.700C>T (p.Arg234Ter)SNV Pathogenic 554001 rs779690256 16:56540049-56540049 16:56506137-56506137
28 BBS2 NM_031885.4(BBS2):c.814C>T (p.Arg272Ter)SNV Pathogenic 552219 rs764164384 16:56536711-56536711 16:56502799-56502799
29 BBS2 NM_031885.4(BBS2):c.1705C>T (p.Gln569Ter)SNV Pathogenic 551008 rs1555521501 16:56531747-56531747 16:56497835-56497835
30 BBS9 NM_198428.3(BBS9):c.113-2A>GSNV Pathogenic 585194 rs1562686929 7:33192311-33192311 7:33152699-33152699
31 BBS9 NM_198428.3(BBS9):c.263+4A>GSNV Pathogenic 585195 rs370916293 7:33192467-33192467 7:33152855-33152855
32 BBS9 NM_198428.3(BBS9):c.727G>A (p.Glu243Lys)SNV Pathogenic 585196 rs1562917450 7:33312648-33312648 7:33273036-33273036
33 BBS1 NM_024649.4(BBS1):c.592-?_830+?deldeletion Pathogenic 585174
34 BBS1 NM_024649.4(BBS1):c.1111-?_1695+?deldeletion Pathogenic 585169
35 BBS1 NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg)SNV Pathogenic 585170 rs1565287512 11:66293608-66293608 11:66526137-66526137
36 BBS1 NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)SNV Pathogenic 585171 rs1160669210 11:66293660-66293660 11:66526189-66526189
37 BBS1 NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg)SNV Pathogenic 585173 rs1565291081 11:66299212-66299212 11:66531741-66531741
38 BBS10 NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter)SNV Pathogenic 585177 rs1340165752 12:76740622-76740622 12:76346842-76346842
39 BBS10 NM_024685.4(BBS10):c.724del (p.Gln242fs)deletion Pathogenic 585180 rs1565809995 12:76741041-76741041 12:76347261-76347261
40 BBS10 NM_024685.4(BBS10):c.559_561del (p.His187del)deletion Pathogenic 585179 rs781421232 12:76741204-76741206 12:76347424-76347426
41 BBS10 NM_024685.4(BBS10):c.198G>T (p.Arg66Ser)SNV Pathogenic 585178 rs1565810301 12:76741567-76741567 12:76347787-76347787
42 BBS4 NM_033028.4(BBS4):c.157-?_220+?deldeletion Pathogenic 585183
43 BBS4 NM_033028.5(BBS4):c.76+1G>TSNV Pathogenic 585186 rs1465437164 15:72987570-72987570 15:72695229-72695229
44 BBS4 NM_033028.5(BBS4):c.157-3C>GSNV Pathogenic 585184 rs1567412639 15:73004582-73004582 15:72712241-72712241
45 BBS4 NM_033028.5(BBS4):c.657del (p.Lys220fs)deletion Pathogenic 585185 rs1567427651 15:73021971-73021971 15:72729630-72729630
46 BBS2 NM_031885.4(BBS2):c.522T>A (p.Asp174Glu)SNV Pathogenic 585182 rs767373822 16:56544783-56544783 16:56510871-56510871
47 MKKS NM_018848.3(MKKS):c.1478del (p.Leu493fs)deletion Pathogenic 585165 rs1568662687 20:10386130-10386130 20:10405482-10405482
48 MKKS NC_000020.11:g.(?_10405227)_(10413534_?)deldeletion Pathogenic 584330 20:10385875-10394182 20:10405227-10413534
49 BBS5 NM_152384.3(BBS5):c.123del (p.Gly42fs)deletion Pathogenic 585187 rs1272140892 2:170338822-170338822 2:169482312-169482312
50 BBS5 NM_152384.3(BBS5):c.166A>G (p.Arg56Gly)SNV Pathogenic 585188 rs1559121920 2:170343602-170343602 2:169487092-169487092

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
12.28 TTC8 TMEM67 SDCCAG8 NPHP1 MKKS IFT74
2
Show member pathways
11.73 TTC8 MKKS BBS9 BBS7 BBS5 BBS4

GO Terms for Bardet-Biedl Syndrome

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.44 WDPCP TTC8 TRIM32 TMEM67 SDCCAG8 NPHP1
2 cytosol GO:0005829 10.38 TTC8 TRIM32 SDCCAG8 NPHP1 MKKS CEP290
3 cytoskeleton GO:0005856 10.24 WDPCP TTC8 TMEM67 SDCCAG8 NPHP1 MKKS
4 cell GO:0005623 10.14 TRIM32 MKKS CEP19 BBS7 BBS5 BBS4
5 centrosome GO:0005813 10.14 TTC8 TMEM67 SDCCAG8 MKKS IFT74 IFT27
6 microtubule organizing center GO:0005815 10.13 TTC8 SDCCAG8 MKKS CEP290 BBS9 BBS7
7 motile cilium GO:0031514 9.93 NPHP1 MKKS IFT74 IFT27 BBS4 BBS2
8 ciliary membrane GO:0060170 9.92 TTC8 TMEM67 BBS9 BBS7 BBS5 BBS4
9 cilium GO:0005929 9.89 WDPCP TTC8 TMEM67 NPHP1 IFT74 IFT27
10 centriole GO:0005814 9.86 SDCCAG8 CEP290 CEP19 BBS4
11 axoneme GO:0005930 9.85 WDPCP BBS7 BBS1 ARL6
12 ciliary basal body GO:0036064 9.85 TTC8 SDCCAG8 MKKS CEP290 CEP19 BBS7
13 centriolar satellite GO:0034451 9.83 SDCCAG8 CEP290 BBS9 BBS4
14 photoreceptor connecting cilium GO:0032391 9.8 TTC8 NPHP1 CEP290 BBS4
15 BBSome GO:0034464 9.8 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
16 ciliary transition zone GO:0035869 9.78 TMEM67 CEP290 BBS9 BBS4
17 intraciliary transport particle B GO:0030992 9.59 IFT74 IFT27
18 pericentriolar material GO:0000242 9.58 BBS9 BBS4
19 MKS complex GO:0036038 9.58 TMEM67 CEP290
20 cell projection GO:0042995 9.58 WDPCP TTC8 TMEM67 SDCCAG8 NPHP1 IFT74

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.13 TTC8 IFT27 CEP290 BBS9 BBS7 BBS5
2 response to stimulus GO:0050896 10.11 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
3 visual perception GO:0007601 10.02 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
4 ciliary basal body-plasma membrane docking GO:0097711 9.91 TMEM67 SDCCAG8 NPHP1 CEP290
5 determination of left/right symmetry GO:0007368 9.88 MKKS IFT74 BBS7 ARL6
6 photoreceptor cell maintenance GO:0045494 9.88 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
7 heart looping GO:0001947 9.87 MKKS BBS7 BBS5 BBS4
8 fat cell differentiation GO:0045444 9.86 TTC8 TRIM32 MKKS BBS9 BBS7 BBS4
9 protein localization GO:0008104 9.83 BBS7 BBS4 BBS2
10 cerebral cortex development GO:0021987 9.83 MKKS BBS4 BBS2
11 hippocampus development GO:0021766 9.82 MKKS BBS4 BBS2
12 smoothened signaling pathway GO:0007224 9.81 WDPCP IFT27 BBS7
13 negative regulation of GTPase activity GO:0034260 9.81 TTC8 MKKS BBS4
14 intracellular transport GO:0046907 9.81 MKKS BBS7 BBS5 BBS4
15 positive regulation of multicellular organism growth GO:0040018 9.8 MKKS BBS4 BBS2
16 protein localization to cilium GO:0061512 9.8 BBS9 BBS4 BBS1 ARL6
17 melanosome transport GO:0032402 9.8 MKKS BBS7 BBS5 BBS4 BBS2 ARL6
18 cilium assembly GO:0060271 9.8 WDPCP TTC8 TMEM67 MKKS IFT74 CEP290
19 intraciliary transport GO:0042073 9.79 IFT74 IFT27 BBS12
20 brain morphogenesis GO:0048854 9.77 MKKS BBS4 BBS2
21 chaperone-mediated protein complex assembly GO:0051131 9.77 MKKS BBS12 BBS10
22 non-motile cilium assembly GO:1905515 9.76 TTC8 MKKS IFT74 BBS7 BBS4 BBS2
23 regulation of stress fiber assembly GO:0051492 9.75 TTC8 MKKS BBS4
24 striatum development GO:0021756 9.73 MKKS BBS4 BBS2
25 response to leptin GO:0044321 9.72 MKKS BBS4 BBS2
26 leptin-mediated signaling pathway GO:0033210 9.71 MKKS BBS4 BBS2
27 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.7 MKKS BBS4 BBS2
28 inner ear receptor cell stereocilium organization GO:0060122 9.68 TTC8 IFT27
29 protein localization to organelle GO:0033365 9.67 BBS4 BBS2
30 vasodilation GO:0042311 9.67 MKKS BBS2
31 negative regulation of actin filament polymerization GO:0030837 9.67 MKKS BBS4
32 face development GO:0060324 9.66 MKKS BBS4
33 microtubule anchoring at centrosome GO:0034454 9.65 CEP19 BBS4
34 artery smooth muscle contraction GO:0014824 9.65 MKKS BBS2
35 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.65 MKKS BBS4 BBS2
36 sensory processing GO:0050893 9.62 TTC8 BBS4
37 pigment granule aggregation in cell center GO:0051877 9.61 MKKS BBS7
38 cell projection organization GO:0030030 9.5 WDPCP TTC8 TMEM67 SDCCAG8 NPHP1 IFT74

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 WDPCP TTC8 TRIM32 TMEM67 SDCCAG8 NPHP1
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.23 TTC8 MKKS BBS7 BBS5 BBS4 BBS2

Sources for Bardet-Biedl Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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30 HMDB
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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