BBS
MCID: BRD002
MIFTS: 63

Bardet-Biedl Syndrome (BBS) malady

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

Aliases & Classifications for Bardet-Biedl Syndrome

Aliases & Descriptions for Bardet-Biedl Syndrome:

Name: Bardet-Biedl Syndrome 12 23 50 24 25 56 52 42 14 69
Biedl-Bardet Syndrome 23 50 24 29
Bbs 50 24 25 56

Characteristics:

Orphanet epidemiological data:

56
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:

23
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:



External Ids:

Disease Ontology 12 DOID:1935
ICD10 33 Q87.89
MeSH 42 D020788
NCIt 47 C118632
SNOMED-CT 64 5619004
Orphanet 56 ORPHA110
MESH via Orphanet 43 D020788
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 70 C0752166
UMLS 69 C0752166

Summaries for Bardet-Biedl Syndrome

NIH Rare Diseases : 50 bardet-biedl syndrome is an inherited condition that affects many parts of the body. people with this condition have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties. mutations in at least 14 genes are known to cause bardet-biedl syndrome and inheritance is usually autosomal recessive. treatment depends on the symptoms present in each person. last updated: 11/29/2016

MalaCards based summary : Bardet-Biedl Syndrome, also known as biedl-bardet syndrome, is related to bardet-biedl syndrome 1 and bardet-biedl syndrome 5, and has symptoms including short neck, obesity and finger syndactyly. 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 Menthol and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include kidney, pituitary and eye, and related phenotypes are growth/size/body region and cellular

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 : 71 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 16 Bardet-Biedl Syndrome 15
Bardet-Biedl Syndrome 5 Bardet-Biedl Syndrome 17
Bardet-Biedl Syndrome 3 Bardet-Biedl Syndrome 7
Bardet-Biedl Syndrome 12 Bardet-Biedl Syndrome 9
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 14 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 6
Bardet-Biedl Syndrome 19 Bbip1-Related Bardet-Biedl Syndrome
C2orf86-Related Bardet-Biedl Syndrome Ift27-Related Bardet-Biedl Syndrome
Arl6-Related Bardet-Biedl Syndrome Bbs1-Related Bardet-Biedl Syndrome
Bbs10-Related Bardet-Biedl Syndrome Bbs12-Related Bardet-Biedl Syndrome
Bbs2-Related Bardet-Biedl Syndrome Bbs4-Related Bardet-Biedl Syndrome
Bbs5-Related Bardet-Biedl Syndrome Bbs7-Related Bardet-Biedl Syndrome
Bbs9-Related Bardet-Biedl Syndrome Cep290-Related Bardet-Biedl Syndrome
Mkks-Related Bardet-Biedl Syndrome Mks1-Related Bardet-Biedl Syndrome
Sdccag8-Related Bardet-Biedl Syndrome Trim32-Related Bardet-Biedl Syndrome
Ttc8-Related Bardet-Biedl Syndrome Wdpcp-Related Bardet-Biedl Syndrome

Diseases related to Bardet-Biedl Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
id Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 1 12.7
2 bardet-biedl syndrome 5 12.6
3 bardet-biedl syndrome 4 12.6
4 bardet-biedl syndrome 3 12.6
5 bardet-biedl syndrome 9 12.6
6 bardet-biedl syndrome 2 12.5
7 bardet-biedl syndrome 11 12.5
8 bardet-biedl syndrome 12 12.5
9 bardet-biedl syndrome 10 12.5
10 bardet-biedl syndrome 8 12.5
11 bardet-biedl syndrome 6 12.5
12 bardet-biedl syndrome 7 12.5
13 bardet-biedl syndrome 15 12.5
14 bardet-biedl syndrome 14 12.5
15 bardet-biedl syndrome 17 12.5
16 bardet-biedl syndrome 13 12.5
17 bardet-biedl syndrome 19 12.5
18 bardet-biedl syndrome 18 12.5
19 bardet-biedl syndrome 16 12.5
20 bbip1-related bardet-biedl syndrome 12.1
21 c2orf86-related bardet-biedl syndrome 12.1
22 ift27-related bardet-biedl syndrome 12.1
23 lztfl1- related bardet-biedl syndrome 12.1
24 bbs9-related bardet-biedl syndrome 12.1
25 cep290-related bardet-biedl syndrome 12.1
26 mkks-related bardet-biedl syndrome 12.1
27 mks1-related bardet-biedl syndrome 12.1
28 trim32-related bardet-biedl syndrome 12.1
29 ttc8-related bardet-biedl syndrome 12.1
30 wdpcp-related bardet-biedl syndrome 12.1
31 arl6-related bardet-biedl syndrome 12.1
32 bbs1-related bardet-biedl syndrome 12.1
33 bbs10-related bardet-biedl syndrome 12.1
34 bbs12-related bardet-biedl syndrome 12.1
35 bbs2-related bardet-biedl syndrome 12.1
36 bbs4-related bardet-biedl syndrome 12.1
37 bbs5-related bardet-biedl syndrome 12.1
38 bbs7-related bardet-biedl syndrome 12.1
39 sdccag8-related bardet-biedl syndrome 12.0
40 alstrom syndrome 11.6
41 laurence-moon syndrome 11.3
42 mental retardation, truncal obesity, retinal dystrophy, and micropenis 11.3
43 obesity 10.7
44 retinitis 10.6
45 polydactyly 10.5
46 ciliopathy 10.4
47 pnpla6-related disorders 10.4 BBS1 BBS2 TTC8
48 frontonasal dysplasia 3 10.4 BBS1 BBS10 BBS12 CEP290
49 auriculocondylar syndrome 2 10.4 BBS1 BBS2 BBS4 BBS7 MKKS
50 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.4 BBS2 BBS4 MKKS 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:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 56 32 Occasional (29-5%) HP:0000470
2 obesity 56 32 Very frequent (99-80%) HP:0001513
3 finger syndactyly 56 32 Occasional (29-5%) HP:0006101
4 nystagmus 56 32 Frequent (79-30%) HP:0000639
5 hypertension 56 32 Frequent (79-30%) HP:0000822
6 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
7 neurological speech impairment 56 32 Occasional (29-5%) HP:0002167
8 hearing impairment 56 32 Occasional (29-5%) HP:0000365
9 short stature 56 32 Frequent (79-30%) HP:0004322
10 skeletal muscle atrophy 56 32 Occasional (29-5%) HP:0003202
11 generalized hirsutism 56 32 Occasional (29-5%) HP:0002230
12 abnormal electroretinogram 56 32 Very frequent (99-80%) HP:0000512
13 cryptorchidism 56 32 Occasional (29-5%) HP:0000028
14 hepatic fibrosis 56 32 Occasional (29-5%) HP:0001395
15 nephrotic syndrome 56 32 Occasional (29-5%) HP:0000100
16 hypogonadism 56 32 Frequent (79-30%) HP:0000135
17 prominent nasal bridge 56 32 Occasional (29-5%) HP:0000426
18 multicystic kidney dysplasia 56 32 Very frequent (99-80%) HP:0000003
19 low-set, posteriorly rotated ears 56 32 Occasional (29-5%) HP:0000368
20 downslanted palpebral fissures 56 32 Occasional (29-5%) HP:0000494
21 hypoplasia of penis 56 32 Frequent (79-30%) HP:0008736
22 postaxial hand polydactyly 56 32 Very frequent (99-80%) HP:0001162
23 hypoplasia of the ovary 56 32 Frequent (79-30%) HP:0008724
24 pigmentary retinopathy 56 32 Very frequent (99-80%) HP:0000580
25 medial flaring of the eyebrow 56 32 Occasional (29-5%) HP:0010747

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
2 cellular MP:0005384 10.34 MKS1 SDCCAG8 TTC8 WDPCP ARL6 BBS1
3 behavior/neurological MP:0005386 10.33 BBS12 BBS2 BBS4 BBS5 BBS7 CEP290
4 nervous system MP:0003631 10.3 BBS4 BBS7 CEP290 IFT27 LZTFL1 MKKS
5 homeostasis/metabolism MP:0005376 10.27 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
6 craniofacial MP:0005382 10.25 ARL6 BBS1 BBS4 BBS7 CEP290 IFT27
7 cardiovascular system MP:0005385 10.24 ARL6 BBS1 BBS4 BBS5 BBS7 CEP290
8 mortality/aging MP:0010768 10.18 WDPCP BBIP1 BBS1 BBS10 BBS4 BBS7
9 adipose tissue MP:0005375 10.16 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
10 limbs/digits/tail MP:0005371 10.09 BBS1 BBS2 BBS5 BBS7 IFT27 MKKS
11 renal/urinary system MP:0005367 10.06 BBS10 BBS12 BBS2 BBS4 BBS7 CEP290
12 digestive/alimentary MP:0005381 10.04 BBS2 BBS4 BBS7 IFT27 MKS1 SDCCAG8
13 reproductive system MP:0005389 9.96 BBIP1 BBS1 BBS2 BBS4 BBS7 CEP290
14 respiratory system MP:0005388 9.76 BBS1 BBS4 CEP290 IFT27 MKKS MKS1
15 vision/eye MP:0005391 9.55 MKS1 SDCCAG8 TTC8 WDPCP ARL6 BBIP1
16 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 BBS7 CEP290 MKKS

Drugs & Therapeutics for Bardet-Biedl Syndrome

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved 2216-51-5 16666
2 Liver Extracts
3 insulin
4 Insulin, Globin Zinc

Interventional clinical trials:


id Name Status NCT ID Phase
1 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3
2 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
3 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
4 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
5 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
6 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
7 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
8 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224
9 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:

id Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 29 24 BBS1 BBS2 ARL6 BBS4 BBS5 MKKS BBS7 TTC8 BBS9 BBS10 TRIM32 BBS12 MKS1 CEP290 WDPCP BBIP1

Anatomical Context for Bardet-Biedl Syndrome

MalaCards organs/tissues related to Bardet-Biedl Syndrome:

39
Kidney, Pituitary, Eye, Brain, Skeletal Muscle, Ovary, Testes

Publications for Bardet-Biedl Syndrome

Articles related to Bardet-Biedl Syndrome:

(show top 50) (show all 431)
id Title Authors Year
1
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ( 28502102 )
2017
2
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
3
Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing. ( 28396767 )
2017
4
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336 )
2017
5
Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms. ( 28511423 )
2017
6
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. ( 28352024 )
2017
7
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. ( 28237838 )
2017
8
Genetics of Human Bardet-Biedl Syndrome, an Updates. ( 26762677 )
2016
9
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. ( 26854863 )
2016
10
Bardet-Biedl Syndrome 3 regulates development of cranial base midline structures. ( 27170093 )
2016
11
Spot Diagnosis of a Daedalian Genetic Disorder: Bardet-Biedl Syndrome. ( 27437293 )
2016
12
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome. ( 27879052 )
2016
13
Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and AlstrAPm Syndrome provides mechanistic insight into shared and divergent phenotypes. ( 27142762 )
2016
14
Anesthetic considerations for patients with Bardet-Biedl syndrome: a case series and review of the literature. ( 26804322 )
2016
15
Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome. ( 27442694 )
2016
16
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. ( 27486776 )
2016
17
Bardet-biedl syndrome with ostium primum atrial septal defect-A case report. ( 27727653 )
2016
18
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. ( 27659767 )
2016
19
Bardet Biedl syndrome in South Africa: A single founder mutation. ( 27245532 )
2016
20
Oral healthcare management in Bardet Biedl syndrome. ( 27571505 )
2016
21
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. ( 27853007 )
2016
22
Bardet-Biedl Syndrome with End Stage Renal Disease. ( 27853335 )
2016
23
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). ( 27008867 )
2016
24
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. ( 27708425 )
2016
25
Renal phenotype in Bardet-Biedl Syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion. ( 27488999 )
2016
26
Ovarian teratomas in a patient with Bardet-Biedl syndrome, a rare association. ( 28174811 )
2016
27
Bardet-Biedl Syndrome. ( 27385962 )
2016
28
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. ( 26846096 )
2016
29
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. ( 26763875 )
2016
30
Renal transplantation in Bardet-Biedl Syndrome. ( 27245600 )
2016
31
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina. ( 26867008 )
2016
32
Erratum to: Adjustable gastric banding and sleeve gastrectomy in Bardet-Biedl syndrome. ( 25573457 )
2015
33
Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome. ( 26628797 )
2015
34
Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. ( 26078953 )
2015
35
Renal dysplasia in Bardet-Biedl syndrome. ( 26076793 )
2015
36
Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome. ( 25553308 )
2015
37
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. ( 26325687 )
2015
38
Bardet-Biedl syndrome in a preterm newborn. ( 26043513 )
2015
39
Bardet-Biedl syndrome: A rare cause of end stage renal disease. ( 25664275 )
2015
40
Bardet-Biedl syndrome: Is it only cilia dysfunction? ( 26231314 )
2015
41
Differential effects on I^-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. ( 26494903 )
2015
42
Value of MRI Olfactory Bulb evaluation in the assessment of olfactory dysfunction in Bardet Biedl syndrome. ( 26586152 )
2015
43
A rod-sparing retinopathy in bardet-biedl syndrome. ( 25759667 )
2015
44
Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome. ( 26473736 )
2015
45
Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7. ( 26557828 )
2015
46
Bardet-Biedl syndrome: multiple fingers with multiple defects! ( 26611481 )
2015
47
Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. ( 25988237 )
2015
48
Two brothers with bardet-biedl syndrome presenting with chronic renal failure. ( 25960897 )
2015
49
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families. ( 26082521 )
2015
50
Liver anomalies as a phenotype parameter of Bardet-Biedl syndrome. ( 26596255 )
2015

Variations for Bardet-Biedl Syndrome

ClinVar genetic disease variations for Bardet-Biedl Syndrome:

6 (show top 50) (show all 82)
id Gene Variation Type Significance SNP ID Assembly Location
1 BBS10 NM_024685.3(BBS10): c.271dupT (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh38 Chromosome 12, 76347714: 76347714
2 BBS7 NM_176824.2(BBS7): c.632C> T (p.Thr211Ile) single nucleotide variant Pathogenic rs119466002 GRCh37 Chromosome 4, 122775945: 122775945
3 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh37 Chromosome 16, 56536702: 56536702
4 TRIM32 NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser) single nucleotide variant Pathogenic rs111033571 GRCh37 Chromosome 9, 119460409: 119460409
5 BBS4 NM_033028.4(BBS4): c.77-220delA deletion Pathogenic rs113994189 GRCh37 Chromosome 15, 73001821: 73001821
6 BBS4 NM_033028.4(BBS4): c.157-2A> G single nucleotide variant Pathogenic rs113994192 GRCh37 Chromosome 15, 73004583: 73004583
7 BBS1 NM_024649.4(BBS1): c.1169T> G (p.Met390Arg) single nucleotide variant Pathogenic rs113624356 GRCh37 Chromosome 11, 66293652: 66293652
8 BBS1 NM_024649.4(BBS1): c.1645G> T (p.Glu549Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917777 GRCh37 Chromosome 11, 66299163: 66299163
9 BBS1 NM_024649.4(BBS1): c.432+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587777829 GRCh38 Chromosome 11, 66514679: 66514679
10 MKKS NM_170784.2(MKKS): c.431_441delTTAGTAGTACT (p.Phe144Serfs) deletion Pathogenic rs113994195 GRCh37 Chromosome 20, 10393722: 10393732
11 MKKS NM_170784.2(MKKS): c.876_877insCCTG (p.Cys293Profs) insertion Pathogenic rs113994196 GRCh37 Chromosome 20, 10393286: 10393287
12 BBS1 NM_024649.4(BBS1): c.1340-2A> G single nucleotide variant Pathogenic rs113994180 GRCh37 Chromosome 11, 66297288: 66297288
13 BBS1 NM_024649.4(BBS1): c.831-3C> G single nucleotide variant Pathogenic rs113994179 GRCh37 Chromosome 11, 66290924: 66290924
14 BBS1 NM_024649.4(BBS1): c.-3_37del40 deletion Pathogenic rs113994178 GRCh37 Chromosome 11, 66278128: 66278167
15 BBS4 NM_033028.4(BBS4): c.220+1G> C single nucleotide variant Pathogenic rs113994190 GRCh37 Chromosome 15, 73004649: 73004649
16 BBS4 NM_033028.4(BBS4): c.406-2A> C single nucleotide variant Pathogenic rs113994191 GRCh37 Chromosome 15, 73015133: 73015133
17 BBS10 NM_024685.3(BBS10): c.273C> G (p.Cys91Trp) single nucleotide variant Pathogenic rs148374859 GRCh37 Chromosome 12, 76741492: 76741492
18 BBS1 NM_024649.4(BBS1): c.670G> A (p.Glu224Lys) single nucleotide variant Likely pathogenic rs193922709 GRCh37 Chromosome 11, 66287166: 66287166
19 BBS2 NM_031885.3(BBS2): c.1015C> T (p.Arg339Ter) single nucleotide variant Likely pathogenic rs193922710 GRCh37 Chromosome 16, 56536294: 56536294
20 BBS2 NM_031885.3(BBS2): c.1770delT (p.Phe590Leufs) deletion Pathogenic/Likely pathogenic rs193922711 GRCh37 Chromosome 16, 56531682: 56531682
21 ARL6 NM_177976.3(ARL6): c.272T> C (p.Ile91Thr) single nucleotide variant Pathogenic rs137854907 GRCh37 Chromosome 3, 97503816: 97503816
22 BBS12 NM_001178007.1(BBS12): c.323C> G (p.Pro108Arg) single nucleotide variant Pathogenic rs151344630 GRCh37 Chromosome 4, 123663370: 123663370
23 BBS5 NM_152384.2(BBS5): c.413G> A (p.Arg138His) single nucleotide variant Pathogenic rs179363897 GRCh37 Chromosome 2, 170349410: 170349410
24 BBIP1 NM_001195306.1(BBIP1): c.173T> G (p.Leu58Ter) single nucleotide variant Pathogenic rs515726134 GRCh38 Chromosome 10, 110900466: 110900466
25 LZTFL1 NM_020347.3(LZTFL1): c.260T> C (p.Leu87Pro) single nucleotide variant Pathogenic rs515726135 GRCh37 Chromosome 3, 45877145: 45877145
26 LZTFL1 NM_020347.3(LZTFL1): c.778G> T (p.Glu260Ter) single nucleotide variant Pathogenic rs515726136 GRCh38 Chromosome 3, 45827459: 45827459
27 BBS10 NM_024685.3(BBS10): c.1091delA (p.Asn364Thrfs) deletion Pathogenic/Likely pathogenic rs727503818 GRCh37 Chromosome 12, 76740674: 76740674
28 BBS1 NM_024649.4(BBS1): c.436C> T (p.Arg146Ter) single nucleotide variant Likely pathogenic rs786204444 GRCh38 Chromosome 11, 66515543: 66515543
29 BBS1 NM_024649.4(BBS1): c.1131_1135delCTTTG (p.Cys377Trpfs) deletion Likely pathogenic rs786204701 GRCh38 Chromosome 11, 66526143: 66526147
30 BBS1 NM_024649.4(BBS1): c.1285C> T (p.Arg429Ter) single nucleotide variant Likely pathogenic rs768443448 GRCh37 Chromosome 11, 66294224: 66294224
31 BBS9 NM_198428.2(BBS9): c.263C> A (p.Ser88Ter) single nucleotide variant Pathogenic/Likely pathogenic rs749974697 GRCh37 Chromosome 7, 33192463: 33192463
32 BBS5 NM_152384.2(BBS5): c.532G> A (p.Gly178Arg) single nucleotide variant Likely pathogenic rs786205636 GRCh37 Chromosome 2, 170350260: 170350260
33 BBS1 NM_024649.4(BBS1): c.887delT (p.Ile296Thrfs) deletion Pathogenic rs794727006 GRCh37 Chromosome 11, 66290983: 66290983
34 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh38 Chromosome 12, 88086450: 88086450
35 BBS7 NM_176824.2(BBS7): c.1986_1988delGCAinsT (p.Lys662Asnfs) indel Pathogenic rs863224529 GRCh37 Chromosome 4, 122749327: 122749329
36 BBS7 NM_176824.2(BBS7): c.389_390delAC (p.Asn130Thrfs) deletion Pathogenic rs863224530 GRCh37 Chromosome 4, 122780285: 122780286
37 BBS9 NM_198428.2(BBS9): c.(?_-1)_328+?del deletion Pathogenic GRCh37 Chromosome 7, 33185864: 33195314
38 BBS9 NM_198428.2(BBS9): c.1370T> A (p.Leu457Ter) single nucleotide variant Pathogenic rs762511626 GRCh38 Chromosome 7, 33349108: 33349108
39 BBS9 NM_198428.2(BBS9): c.1423G> T (p.Glu475Ter) single nucleotide variant Pathogenic rs863224534 GRCh38 Chromosome 7, 33349161: 33349161
40 BBS10 NM_024685.3(BBS10): c.687delT (p.Val230Phefs) deletion Pathogenic rs761101213 GRCh37 Chromosome 12, 76741078: 76741078
41 BBS10 NM_024685.3(BBS10): c.531C> A (p.Tyr177Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863224522 GRCh38 Chromosome 12, 76347454: 76347454
42 BBS1 NM_024649.4(BBS1): c.48-3C> G single nucleotide variant Pathogenic rs869025204 GRCh37 Chromosome 11, 66278481: 66278481
43 BBS1 NM_024649.4(BBS1): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs869025205 GRCh37 Chromosome 11, 66291255: 66291255
44 BBS10 NM_024685.3(BBS10): c.145C> T (p.Arg49Trp) single nucleotide variant Pathogenic rs768933093 GRCh37 Chromosome 12, 76741994: 76741994
45 BBS1 NM_024649.4(BBS1): c.416G> A (p.Trp139Ter) single nucleotide variant Pathogenic rs878855095 GRCh38 Chromosome 11, 66514662: 66514662
46 TRAPPC3 NM_001270894.1(TRAPPC3): c.208C> T (p.Arg70Trp) single nucleotide variant Likely pathogenic rs751375244 GRCh37 Chromosome 1, 36605377: 36605377
47 BBS9 NM_198428.2(BBS9): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs775081992 GRCh37 Chromosome 7, 33192423: 33192423
48 BBS9 NM_198428.2(BBS9): c.956delC (p.Thr319Asnfs) deletion Pathogenic rs886039799 GRCh37 Chromosome 7, 33313508: 33313508
49 BBS9 NM_198428.2(BBS9): c.2115+1G> A single nucleotide variant Pathogenic rs886039801 GRCh38 Chromosome 7, 33388145: 33388145
50 BBS1 NM_024649.4: r.1232_3423del deletion Pathogenic GRCh37 Chromosome 11, 66294159: 66301137

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.61 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
2
Show member pathways
11.47 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2

GO Terms for Bardet-Biedl Syndrome

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.91 BBS1 BBS2 BBS4 BBS5 BBS7 CEP290
2 ciliary membrane GO:0060170 9.87 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
3 centriole GO:0005814 9.85 BBS4 CEP290 MKS1 SDCCAG8
4 motile cilium GO:0031514 9.84 BBS2 BBS4 IFT27 MKKS
5 axoneme GO:0005930 9.83 ARL6 BBS1 BBS7 WDPCP
6 cilium GO:0005929 9.83 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
7 ciliary transition zone GO:0035869 9.78 BBS4 BBS9 CEP290 MKS1
8 centriolar satellite GO:0034451 9.76 BBS4 BBS9 CEP290 SDCCAG8
9 photoreceptor connecting cilium GO:0032391 9.73 BBS4 CEP290 TTC8
10 pericentriolar material GO:0000242 9.58 BBS4 BBS9
11 MKS complex GO:0036038 9.57 CEP290 MKS1
12 BBSome GO:0034464 9.28 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
13 cytoplasm GO:0005737 10.44 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
14 cytosol GO:0005829 10.4 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
15 cytoskeleton GO:0005856 10.22 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
16 centrosome GO:0005813 10.09 BBS1 BBS4 BBS7 CEP290 IFT27 MKKS
17 microtubule organizing center GO:0005815 10.07 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
18 cell projection GO:0042995 10.03 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2

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

(show all 43)
id Name GO ID Score Top Affiliating Genes
1 determination of left/right symmetry GO:0007368 9.89 ARL6 BBS7 MKKS MKS1
2 heart looping GO:0001947 9.88 BBS4 BBS5 BBS7 MKKS
3 photoreceptor cell maintenance GO:0045494 9.88 BBS1 BBS10 BBS12 BBS2 BBS4 MKKS
4 ciliary basal body docking GO:0097711 9.84 CEP290 MKS1 SDCCAG8
5 smoothened signaling pathway GO:0007224 9.83 BBS7 IFT27 WDPCP
6 cerebral cortex development GO:0021987 9.83 BBS2 BBS4 MKKS
7 hippocampus development GO:0021766 9.82 BBS2 BBS4 MKKS
8 protein localization GO:0008104 9.82 BBS2 BBS4 BBS7
9 negative regulation of GTPase activity GO:0034260 9.81 BBS4 MKKS TTC8
10 retina homeostasis GO:0001895 9.81 BBS1 BBS10 BBS4
11 intracellular transport GO:0046907 9.81 BBS4 BBS5 BBS7 MKKS
12 positive regulation of multicellular organism growth GO:0040018 9.8 BBS2 BBS4 MKKS
13 melanosome transport GO:0032402 9.8 ARL6 BBS2 BBS4 BBS5 BBS7 MKKS
14 non-motile cilium assembly GO:1905515 9.8 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
15 inner ear receptor stereocilium organization GO:0060122 9.79 IFT27 MKS1 TTC8
16 brain morphogenesis GO:0048854 9.78 BBS2 BBS4 MKKS
17 protein localization to cilium GO:0061512 9.78 ARL6 BBS1 BBS4 BBS9
18 chaperone-mediated protein complex assembly GO:0051131 9.77 BBS10 BBS12 MKKS
19 cilium assembly GO:0060271 9.77 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
20 regulation of stress fiber assembly GO:0051492 9.76 BBS4 MKKS TTC8
21 fat cell differentiation GO:0045444 9.76 ARL6 BBS2 BBS4 BBS7 BBS9 MKKS
22 striatum development GO:0021756 9.74 BBS2 BBS4 MKKS
23 response to leptin GO:0044321 9.73 BBS2 BBS4 MKKS
24 leptin-mediated signaling pathway GO:0033210 9.71 BBS2 BBS4 MKKS
25 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.7 BBS2 BBS4 MKKS
26 Golgi to plasma membrane protein transport GO:0043001 9.69 BBS1 BBS2
27 motile cilium assembly GO:0044458 9.69 BBS5 MKS1
28 vasodilation GO:0042311 9.68 BBS2 MKKS
29 regulation of smoothened signaling pathway GO:0008589 9.68 ARL6 MKS1
30 face development GO:0060324 9.68 BBS4 MKKS
31 de novo protein folding GO:0006458 9.68 BBS12 MKKS
32 intraciliary transport GO:0042073 9.67 BBS12 IFT27
33 protein localization to organelle GO:0033365 9.67 BBS2 BBS4
34 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.67 BBS2 BBS4 MKKS
35 negative regulation of actin filament polymerization GO:0030837 9.66 BBS4 MKKS
36 artery smooth muscle contraction GO:0014824 9.65 BBS2 MKKS
37 sensory processing GO:0050893 9.62 BBS4 TTC8
38 pigment granule aggregation in cell center GO:0051877 9.62 BBS7 MKKS
39 cell projection organization GO:0030030 9.4 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
40 transport GO:0006810 10.29 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
41 protein transport GO:0015031 10.17 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS5
42 response to stimulus GO:0050896 10.11 ARL6 BBS1 BBS10 BBS2 BBS4 BBS5
43 visual perception GO:0007601 10.02 ARL6 BBS1 BBS10 BBS2 BBS4 BBS5

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.23 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7

Sources for Bardet-Biedl Syndrome

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