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BBS
MCID: BRD002
MIFTS: 64

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 24 53 25 59 37 29 55 6 44 15 40 73
Bbs 53 25 59
Biedl-Bardet Syndrome 24 53
Bardetbiedl Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
bardet-biedl syndrome
Inheritance: Autosomal recessive,Oligogenic; Prevalence: 1-9/100000,1-9/1000000 (Europe),1-9/1000000 (Tunisia),1-9/1000000 (Switzerland),1-9/1000000 (United Kingdom),1-9/100000 (United States); Age of onset: Antenatal,Infancy,Neonatal;

GeneReviews:

24
Penetrance Penetrance was originally thought to be complete; however, several examples of unaffected individuals with two pathogenic variants in the same gene have been reported...

Classifications:

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: 34
Orphanet: 59  
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

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NIH Rare Diseases : 53 Bardet-Biedl syndrome(BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties.Mutations in 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 12. An important gene associated with Bardet-Biedl Syndrome is BBS1 (Bardet-Biedl Syndrome 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Hormone Antagonists and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include kidney, pituitary and eye, and related phenotypes are short neck and obesity

Disease Ontology : 12 An autosomal recessive disease that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.

Genetics Home Reference : 25 Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

Wikipedia : 76 Bardet�??Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

GeneReviews: NBK1363
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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 253)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 11 35.1 BBS12 BBS5 BBS9 TRIM32
2 bardet-biedl syndrome 12 35.0 BBS12 WDPCP
3 bardet-biedl syndrome 1 35.0 ARL6 BBS1 BBS10 BBS2 BBS4 BBS7
4 bardet-biedl syndrome 3 34.9 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
5 bardet-biedl syndrome 4 34.9 BBS1 BBS2 BBS4
6 bardet-biedl syndrome 6 34.8 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
7 bardet-biedl syndrome 8 34.8 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
8 bardet-biedl syndrome 18 34.8 BBS1 BBS2 BBS4 BBS7 TTC8
9 bardet-biedl syndrome 14 34.8 BBS1 BBS10 BBS12 BBS2 BBS9 CEP290
10 bardet-biedl syndrome 17 34.8 BBS1 BBS2 BBS4 BBS7 BBS9 LZTFL1
11 bardet-biedl syndrome 15 34.8 BBS2 BBS4 MKKS TMEM67 WDPCP
12 bardet-biedl syndrome 7 34.8 BBS12 BBS7
13 bardet-biedl syndrome 5 34.7 BBS2 BBS5
14 bardet-biedl syndrome 16 34.7 BBS1 SDCCAG8
15 bardet-biedl syndrome 19 34.7 BBS10 BBS2
16 bardet-biedl syndrome 13 34.7 BBS1 BBS10 BBS12 BBS2 BBS4 CEP290
17 polydactyly 31.7 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
18 mckusick-kaufman syndrome 31.2 BBS1 BBS12 BBS2 BBS4 BBS7 MKKS
19 fundus dystrophy 31.1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
20 retinitis pigmentosa 31.0 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
21 nonsyndromic retinitis pigmentosa 30.9 BBS1 BBS2 TTC8
22 encephalocele 30.8 CEP290 MKS1 TMEM67
23 bardet-biedl syndrome 2 13.0
24 bardet-biedl syndrome 10 13.0
25 bardet-biedl syndrome 9 12.9
26 bardet-biedl syndrome 20 12.7
27 bardet-biedl syndrome 21 12.7
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 11.3
33 nijmegen breakage syndrome 11.1
34 retinitis 10.6
35 situs inversus 10.6
36 diabetes mellitus 10.5
37 kidney disease 10.5
38 retinal degeneration 10.5
39 leber congenital amaurosis 4 10.4
40 hydrolethalus syndrome 1 10.4 BBS2 BBS4 MKS1 TMEM67
41 pathologic nystagmus 10.4 CEP290 MKS1 TMEM67 WDPCP
42 tetralogy of fallot 10.4 BBS2 BBS4 BBS7 MKKS
43 hirschsprung disease 1 10.4
44 chronic kidney failure 10.4
45 meckel syndrome, type 4 10.3 CEP290 MKS1
46 meckel syndrome, type 2 10.3 MKS1 TMEM67
47 joubert syndrome 17 10.3 CEP290 NPHP1 WDPCP
48 joubert syndrome 6 10.3 CEP290 MKS1 NPHP1 TMEM67
49 nephronophthisis 7 10.3 BBS1 NPHP1 TRIM32
50 meckel syndrome, type 3 10.3 CEP290 MKS1 NPHP1 TMEM67

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:

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

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

46 (show all 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 10.36 ARL6 BBS1 BBS10 BBS2 BBS4 BBS7
3 nervous system MP:0003631 10.3 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
4 behavior/neurological MP:0005386 10.28 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
5 cardiovascular system MP:0005385 10.26 ARL6 BBS1 BBS4 BBS5 BBS7 CEP290
6 craniofacial MP:0005382 10.24 ARL6 BBS1 BBS4 BBS7 CEP290 MKKS
7 homeostasis/metabolism MP:0005376 10.21 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
8 adipose tissue MP:0005375 10.2 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
9 renal/urinary system MP:0005367 10.13 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
10 limbs/digits/tail MP:0005371 10.1 BBS1 BBS2 BBS5 BBS7 BBS9 MKKS
11 digestive/alimentary MP:0005381 10.02 BBS2 BBS4 BBS7 MKS1 SDCCAG8 TMEM67
12 reproductive system MP:0005389 9.96 ARL6 BBS1 BBS2 BBS4 BBS7 CEP290
13 respiratory system MP:0005388 9.76 BBS1 BBS4 CEP290 IFT74 MKKS MKS1
14 vision/eye MP:0005391 9.53 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
15 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 BBS7 CEP290 MKKS
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 Hormone Antagonists Phase 2, Phase 3
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
3 alpha-MSH Phase 2, Phase 3 581-05-5
4 Hormones Phase 2, Phase 3
5
Metformin Approved Phase 2 657-24-9 14219 4091
6 Hypoglycemic Agents Phase 2
7 Liver Extracts
8 Insulin, Globin Zinc
9 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 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 and Molecular Investigations Into Ciliopathies Completed NCT00068224
7 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
8 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
9 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
10 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
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 29 BBS1 BBS4 CCDC28B MKKS SDCCAG8
Sources

Anatomical Context for Bardet-Biedl Syndrome

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MalaCards organs/tissues related to Bardet-Biedl Syndrome:

41
Kidney, Pituitary, Eye, Brain, Lung, Bone, Skeletal Muscle
Sources

Publications for Bardet-Biedl Syndrome

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Articles related to Bardet-Biedl Syndrome:

(show top 50) (show all 521)
# Title Authors Year
1
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. ( 29445114 )
2018
2
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. ( 29666954 )
2018
3
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. ( 29633607 )
2018
4
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. ( 29806606 )
2018
5
Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (<i>Bbs1</i><sup>M<i>390</i>R/M<i>390</i>R</sup>): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation. ( 29971011 )
2018
6
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a<i>Bardet-Biedl Syndrome 9</i>(<i>BBS9</i>) deletion. ( 29367880 )
2018
7
[Bardet-Biedl syndrome and Kidney failure: a case report]. ( 29390243 )
2018
8
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes. ( 29482283 )
2018
9
Managing Bardet-Biedl Syndrome-Now and in the Future. ( 29487844 )
2018
10
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. ( 29126234 )
2018
11
The Endocrine and Metabolic Characteristics of a large Bardet-Biedl syndrome clinic population. ( 29409041 )
2018
12
The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export. ( 29339469 )
2018
13
Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome. ( 29854508 )
2018
14
Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome. ( 29539623 )
2018
15
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing. ( 30073714 )
2018
16
Characterisation of Bardet Biedl Syndrome by post-mortem microfocus computed tomography (micro-CT). ( 30079607 )
2018
17
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
18
Anesthetic Management of a Pediatric Patient With Bardet-Biedl Syndrome. ( 30234512 )
2018
19
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. ( 30293640 )
2018
20
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
21
A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome ( 30335236 )
2018
22
Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation. ( 30446775 )
2018
23
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. ( 30484961 )
2018
24
The Use of a Magnetic Port Finder in the Retrieval of Air Rifle BBs to the Upper Extremity. ( 29622408 )
2018
25
Detection of plastic BBs on CT scanning of the orbit. ( 30119810 )
2018
26
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). ( 28824921 )
2017
27
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. ( 28761321 )
2017
28
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
29
The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect. ( 28868293 )
2017
30
Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. ( 28566787 )
2017
31
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. ( 28624958 )
2017
32
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. ( 28237838 )
2017
33
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. ( 28352024 )
2017
34
Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing. ( 28396767 )
2017
35
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336 )
2017
36
<i>FBN3</i> gene involved in pathogenesis of a Chinese family with Bardet-Biedl syndrome. ( 29156830 )
2017
37
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. ( 29457131 )
2017
38
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ( 28502102 )
2017
39
Toward personalized medicine in Bardet-Biedl syndrome. ( 29754569 )
2017
40
Impact of Local and Systemic Factors on Kidney Dysfunction in Bardet-Biedl Syndrome. ( 29161709 )
2017
41
Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes. ( 29232001 )
2017
42
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. ( 28808579 )
2017
43
Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms. ( 28511423 )
2017
44
Sleep disordered breathing in Bardet-Biedl Syndrome. ( 29106859 )
2017
45
Beneficial Outcomes of Sleeve Gastrectomy in a Morbidly Obese Patient With Bardet-Biedl Syndrome. ( 29264490 )
2017
46
Homozygous mutation in<i>CEP19,</i>a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. ( 29127258 )
2017
47
Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease. ( 28662344 )
2017
48
Polybrominated diphenyl ethers (PBDES) and hexa-brominated biphenyls (Hexa-BBs) in fresh foods ingested in Taiwan. ( 27884471 )
2017
49
Bardet-Biedl Syndrome 3 regulates development of cranial base midline structures. ( 27170093 )
2016
50
Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome. ( 27442694 )
2016
Sources

Variations for Bardet-Biedl Syndrome

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ClinVar genetic disease variations for Bardet-Biedl Syndrome:

6 (show top 50) (show all 1787)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDCCAG8 NM_006642.4(SDCCAG8): c.1420delG (p.Glu474Serfs) deletion Pathogenic rs397515335 GRCh37 Chromosome 1, 243507580: 243507580
2 SDCCAG8 NM_006642.4(SDCCAG8): c.1420delG (p.Glu474Serfs) deletion Pathogenic rs397515335 GRCh38 Chromosome 1, 243344278: 243344278
3 BBS12 NM_152618.2(BBS12): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs121918327 GRCh37 Chromosome 4, 123664110: 123664110
4 BBS12 NM_152618.2(BBS12): c.1063C> T (p.Arg355Ter) single nucleotide variant Pathogenic rs121918327 GRCh38 Chromosome 4, 122742955: 122742955
5 CCDC28B NM_024296.4(CCDC28B): c.330C> T (p.Phe110=) single nucleotide variant risk factor rs41263993 GRCh37 Chromosome 1, 32669645: 32669645
6 CCDC28B NM_024296.4(CCDC28B): c.330C> T (p.Phe110=) single nucleotide variant risk factor rs41263993 GRCh38 Chromosome 1, 32204044: 32204044
7 BBS10 NM_024685.3(BBS10): c.271dupT (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh38 Chromosome 12, 76347714: 76347714
8 BBS10 NM_024685.3(BBS10): c.271dupT (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh37 Chromosome 12, 76741494: 76741494
9 TTC8 NM_198309.3(TTC8): c.1019+2_1019+4delTGC deletion Pathogenic rs587777807 GRCh38 Chromosome 14, 88870200: 88870202
10 TTC8 NM_198309.3(TTC8): c.1019+2_1019+4delTGC deletion Pathogenic rs587777807 GRCh37 Chromosome 14, 89336544: 89336546
11 TTC8 NM_198309.3(TTC8): c.459G> A (p.Thr153=) single nucleotide variant Conflicting interpretations of pathogenicity rs119103286 GRCh37 Chromosome 14, 89307540: 89307540
12 TTC8 NM_198309.3(TTC8): c.459G> A (p.Thr153=) single nucleotide variant Conflicting interpretations of pathogenicity rs119103286 GRCh38 Chromosome 14, 88841196: 88841196
13 BBS9 NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs) deletion Pathogenic rs606231137 GRCh38 Chromosome 7, 33383753: 33383756
14 BBS9 NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs) deletion Pathogenic rs606231137 GRCh37 Chromosome 7, 33423365: 33423368
15 BBS7 NM_176824.2(BBS7): c.632C> T (p.Thr211Ile) single nucleotide variant Pathogenic rs119466002 GRCh37 Chromosome 4, 122775945: 122775945
16 BBS7 NM_176824.2(BBS7): c.632C> T (p.Thr211Ile) single nucleotide variant Pathogenic rs119466002 GRCh38 Chromosome 4, 121854790: 121854790
17 BBS2 NM_031885.3(BBS2): c.72C> G (p.Tyr24Ter) single nucleotide variant Pathogenic rs121908175 GRCh37 Chromosome 16, 56553703: 56553703
18 BBS2 NM_031885.3(BBS2): c.72C> G (p.Tyr24Ter) single nucleotide variant Pathogenic rs121908175 GRCh38 Chromosome 16, 56519791: 56519791
19 BBS2 NM_031885.3(BBS2): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908176 GRCh37 Chromosome 16, 56548535: 56548535
20 BBS2 NM_031885.3(BBS2): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908176 GRCh38 Chromosome 16, 56514623: 56514623
21 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh37 Chromosome 16, 56536702: 56536702
22 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh38 Chromosome 16, 56502790: 56502790
23 BBS2 NM_031885.3(BBS2): c.311A> C (p.Asp104Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121908179 GRCh37 Chromosome 16, 56548399: 56548399
24 BBS2 NM_031885.3(BBS2): c.311A> C (p.Asp104Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121908179 GRCh38 Chromosome 16, 56514487: 56514487
25 BBS2 NM_031885.3(BBS2): c.1895G> C (p.Arg632Pro) single nucleotide variant Pathogenic rs138043021 GRCh38 Chromosome 16, 56496982: 56496982
26 BBS2 NM_031885.3(BBS2): c.1895G> C (p.Arg632Pro) single nucleotide variant Pathogenic rs138043021 GRCh37 Chromosome 16, 56530894: 56530894
27 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh37 Chromosome 9, 119461480: 119461480
28 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh38 Chromosome 9, 116699201: 116699201
29 TRIM32 NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser) single nucleotide variant Pathogenic rs111033571 GRCh37 Chromosome 9, 119460409: 119460409
30 TRIM32 NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser) single nucleotide variant Pathogenic rs111033571 GRCh38 Chromosome 9, 116698130: 116698130
31 TRIM32 NM_012210.3(TRIM32): c.1181G> A (p.Arg394His) single nucleotide variant Uncertain significance rs121434447 GRCh37 Chromosome 9, 119461202: 119461202
32 TRIM32 NM_012210.3(TRIM32): c.1181G> A (p.Arg394His) single nucleotide variant Uncertain significance rs121434447 GRCh38 Chromosome 9, 116698923: 116698923
33 BBS4 NM_033028.4(BBS4): c.77-220delA deletion Pathogenic rs113994189 GRCh37 Chromosome 15, 73001821: 73001821
34 BBS4 NM_033028.4(BBS4): c.77-220delA deletion Pathogenic rs113994189 GRCh38 Chromosome 15, 72709480: 72709480
35 BBS4 NM_033028.4(BBS4): c.157-2A> G single nucleotide variant Pathogenic rs113994192 GRCh37 Chromosome 15, 73004583: 73004583
36 BBS4 NM_033028.4(BBS4): c.157-2A> G single nucleotide variant Pathogenic rs113994192 GRCh38 Chromosome 15, 72712242: 72712242
37 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
38 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh38 Chromosome 11, 66526181: 66526181
39 BBS1 NM_024649.4(BBS1): c.1645G> T (p.Glu549Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917777 GRCh37 Chromosome 11, 66299163: 66299163
40 BBS1 NM_024649.4(BBS1): c.1645G> T (p.Glu549Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917777 GRCh38 Chromosome 11, 66531692: 66531692
41 BBS1 NM_024649.4(BBS1): c.432+1G> A single nucleotide variant Likely pathogenic rs587777829 GRCh38 Chromosome 11, 66514679: 66514679
42 BBS1 NM_024649.4(BBS1): c.432+1G> A single nucleotide variant Likely pathogenic rs587777829 GRCh37 Chromosome 11, 66282150: 66282150
43 BBS1 NM_024649.4(BBS1): c.700G> A (p.Glu234Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs35520756 GRCh37 Chromosome 11, 66287196: 66287196
44 BBS1 NM_024649.4(BBS1): c.700G> A (p.Glu234Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs35520756 GRCh38 Chromosome 11, 66519725: 66519725
45 MKKS NM_170784.2(MKKS): c.-674_-673insTGGCGGCCTG insertion Benign rs16996729 GRCh37 Chromosome 20, 10414780: 10414781
46 MKKS NM_170784.2(MKKS): c.-674_-673insTGGCGGCCTG insertion Benign rs16996729 GRCh38 Chromosome 20, 10434132: 10434133
47 MKKS NM_170784.2(MKKS): c.-74G> A single nucleotide variant Benign rs113994194 GRCh37 Chromosome 20, 10394236: 10394236
48 MKKS NM_170784.2(MKKS): c.-74G> A single nucleotide variant Benign rs113994194 GRCh38 Chromosome 20, 10413588: 10413588
49 MKKS NM_170784.2(MKKS): c.117C> T (p.Pro39=) single nucleotide variant Benign rs16991547 GRCh37 Chromosome 20, 10394046: 10394046
50 MKKS NM_170784.2(MKKS): c.117C> T (p.Pro39=) single nucleotide variant Benign rs16991547 GRCh38 Chromosome 20, 10413398: 10413398
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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 66
Show member pathways
 12.64 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
2
Cargo trafficking to the periciliary membrane 66
Show member pathways
 11.43 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 18)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.97 BBS1 BBS2 BBS4 BBS5 BBS7 CEP290
2 motile cilium GO:0031514 9.93 BBS2 BBS4 IFT74 MKKS NPHP1
3 axoneme GO:0005930 9.89 ARL6 BBS1 BBS5 BBS7 WDPCP
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 cilium GO:0005929 9.86 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
8 centriolar satellite GO:0034451 9.85 BBS4 BBS5 BBS9 CEP290 SDCCAG8
9 photoreceptor connecting cilium GO:0032391 9.81 BBS4 CEP290 NPHP1 TTC8
10 MKS complex GO:0036038 9.73 CEP290 MKS1 TMEM67
11 pericentriolar material GO:0000242 9.58 BBS4 BBS9
12 BBSome GO:0034464 9.17 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
13 cytoplasm GO:0005737 10.45 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
14 cytosol GO:0005829 10.42 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
15 cytoskeleton GO:0005856 10.24 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
16 centrosome GO:0005813 10.13 BBS1 BBS4 BBS7 CEP290 IFT74 MKKS
17 microtubule organizing center GO:0005815 10.1 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
18 cell projection GO:0042995 10.06 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 9.82 BBS2 BBS4 BBS7
7 cerebral cortex development GO:0021987 9.81 BBS2 BBS4 MKKS
8 hippocampus development GO:0021766 9.81 BBS2 BBS4 MKKS
9 protein localization to cilium GO:0061512 9.81 ARL6 BBS1 BBS4 BBS9
10 negative regulation of GTPase activity GO:0034260 9.8 BBS4 MKKS TTC8
11 retina homeostasis GO:0001895 9.8 BBS1 BBS10 BBS4
12 melanosome transport GO:0032402 9.8 ARL6 BBS2 BBS4 BBS5 BBS7 MKKS
13 cilium assembly GO:0060271 9.8 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
14 positive regulation of multicellular organism growth GO:0040018 9.79 BBS2 BBS4 MKKS
15 brain morphogenesis GO:0048854 9.77 BBS2 BBS4 MKKS
16 chaperone-mediated protein complex assembly GO:0051131 9.77 BBS10 BBS12 MKKS
17 regulation of stress fiber assembly GO:0051492 9.76 BBS4 MKKS TTC8
18 striatum development GO:0021756 9.75 BBS2 BBS4 MKKS
19 response to leptin GO:0044321 9.73 BBS2 BBS4 MKKS
20 leptin-mediated signaling pathway GO:0033210 9.72 BBS2 BBS4 MKKS
21 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.71 BBS2 BBS4 MKKS
22 adult behavior GO:0030534 9.68 BBS2 BBS4
23 Golgi to plasma membrane protein transport GO:0043001 9.68 BBS1 BBS2
24 intracellular transport GO:0046907 9.68 BBS4 MKKS
25 motile cilium assembly GO:0044458 9.68 BBS5 MKS1
26 regulation of smoothened signaling pathway GO:0008589 9.67 ARL6 MKS1
27 inner ear receptor cell stereocilium organization GO:0060122 9.67 MKS1 TTC8
28 intraciliary transport GO:0042073 9.67 BBS12 IFT74
29 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.67 BBS2 BBS4 MKKS
30 vasodilation GO:0042311 9.66 BBS2 MKKS
31 protein localization to organelle GO:0033365 9.66 BBS2 BBS4
32 face development GO:0060324 9.65 BBS4 MKKS
33 negative regulation of actin filament polymerization GO:0030837 9.65 BBS4 MKKS
34 artery smooth muscle contraction GO:0014824 9.65 BBS2 MKKS
35 sensory processing GO:0050893 9.61 BBS4 TTC8
36 pigment granule aggregation in cell center GO:0051877 9.61 BBS7 MKKS
37 non-motile cilium assembly GO:1905515 9.28 BBS1 BBS10 BBS2 BBS4 BBS7 IFT74
38 protein transport GO:0015031 10.11 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
39 response to stimulus GO:0050896 10.09 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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