BBS
MCID: BRD002
MIFTS: 63

Bardet-Biedl Syndrome (BBS) malady

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

Aliases & Classifications for Bardet-Biedl Syndrome

About this section
Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Bardet-Biedl Syndrome:

Name: Bardet-Biedl Syndrome 11 23 48 24 25 54 50 39 13 68
Biedl-Bardet Syndrome 23 48 24 27
 
Bbs 48 24 25 54

Characteristics:

Orphanet epidemiological data:

54
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 Ontology11 DOID:1935
ICD1030 Q87.89
MeSH39 D020788
NCIt45 C118632
SNOMED-CT62 5619004
Orphanet54 ORPHA110
MESH via Orphanet40 D020788
ICD10 via Orphanet31 Q87.8
UMLS via Orphanet69 C0752166

Summaries for Bardet-Biedl Syndrome

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Bardet-Biedl Syndrome is BBS1 (Bardet-Biedl Syndrome 1), and among its related pathways are Cargo trafficking to the periciliary membrane and Organelle biogenesis and maintenance. Affiliated tissues include kidney, pituitary and eye, and related mouse phenotypes are adipose tissue and digestive/alimentary.

Disease Ontology:11 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 for NBK1363

Related Diseases for Bardet-Biedl Syndrome

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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)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome 112.7
2bardet-biedl syndrome 512.6
3bardet-biedl syndrome 312.6
4bardet-biedl syndrome 412.6
5bardet-biedl syndrome 912.6
6bardet-biedl syndrome 212.5
7bardet-biedl syndrome 1112.5
8bardet-biedl syndrome 1212.5
9bardet-biedl syndrome 1012.5
10bardet-biedl syndrome 712.5
11bardet-biedl syndrome 812.5
12bardet-biedl syndrome 612.5
13bardet-biedl syndrome 1612.5
14bardet-biedl syndrome 1512.5
15bardet-biedl syndrome 1712.5
16bardet-biedl syndrome 1812.5
17bardet-biedl syndrome 1412.5
18bardet-biedl syndrome 1312.5
19bardet-biedl syndrome 1912.5
20bbip1-related bardet-biedl syndrome12.1
21c2orf86-related bardet-biedl syndrome12.1
22ift27-related bardet-biedl syndrome12.1
23lztfl1- related bardet-biedl syndrome12.1
24arl6-related bardet-biedl syndrome12.1
25bbs1-related bardet-biedl syndrome12.1
26bbs10-related bardet-biedl syndrome12.1
27bbs12-related bardet-biedl syndrome12.1
28bbs2-related bardet-biedl syndrome12.1
29bbs4-related bardet-biedl syndrome12.1
30bbs5-related bardet-biedl syndrome12.1
31bbs7-related bardet-biedl syndrome12.1
32bbs9-related bardet-biedl syndrome12.1
33cep290-related bardet-biedl syndrome12.1
34mkks-related bardet-biedl syndrome12.1
35mks1-related bardet-biedl syndrome12.1
36trim32-related bardet-biedl syndrome12.1
37ttc8-related bardet-biedl syndrome12.1
38wdpcp-related bardet-biedl syndrome12.1
39sdccag8-related bardet-biedl syndrome12.0
40alstrom syndrome11.6
41mental retardation, truncal obesity, retinal dystrophy, and micropenis11.3
42laurence-moon syndrome11.3
43obesity10.7
44retinitis10.6
45polydactyly10.5
46ciliopathy10.4
47pnpla6-related disorders10.4BBS1, BBS2, TTC8
48frontonasal dysplasia 310.4BBS1, BBS10, BBS12, CEP290
49auriculocondylar syndrome 210.4BBS1, BBS2, BBS4, BBS7, MKKS
50congenital heart defects, hamartomas of tongue, and polysyndactyly10.4BBS2, 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

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Human phenotypes related to Bardet-Biedl Syndrome:

 54 64 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia64 54 Very frequent (99-80%) HP:0000003
2 cryptorchidism64 54 Occasional (29-5%) HP:0000028
3 nephrotic syndrome64 54 Occasional (29-5%) HP:0000100
4 hypogonadism64 54 Frequent (79-30%) HP:0000135
5 hearing impairment64 54 Occasional (29-5%) HP:0000365
6 low-set, posteriorly rotated ears64 54 Occasional (29-5%) HP:0000368
7 prominent nasal bridge64 54 Occasional (29-5%) HP:0000426
8 short neck64 54 Occasional (29-5%) HP:0000470
9 downslanted palpebral fissures64 54 Occasional (29-5%) HP:0000494
10 abnormal electroretinogram64 54 Very frequent (99-80%) HP:0000512
11 pigmentary retinopathy64 54 Very frequent (99-80%) HP:0000580
12 nystagmus64 54 Frequent (79-30%) HP:0000639
13 hypertension64 54 Frequent (79-30%) HP:0000822
14 postaxial hand polydactyly64 54 Very frequent (99-80%) HP:0001162
15 intellectual disability64 54 Very frequent (99-80%) HP:0001249
16 hepatic fibrosis64 54 Occasional (29-5%) HP:0001395
17 obesity64 54 Very frequent (99-80%) HP:0001513
18 neurological speech impairment64 54 Occasional (29-5%) HP:0002167
19 generalized hirsutism64 54 Occasional (29-5%) HP:0002230
20 skeletal muscle atrophy64 54 Occasional (29-5%) HP:0003202
21 short stature64 54 Frequent (79-30%) HP:0004322
22 finger syndactyly64 54 Occasional (29-5%) HP:0006101
23 hypoplasia of the ovary64 54 Frequent (79-30%) HP:0008724
24 hypoplasia of penis64 54 Frequent (79-30%) HP:0008736
25 medial flaring of the eyebrow64 54 Occasional (29-5%) HP:0010747

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome according to GeneCards Suite gene sharing:

41 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537511.0ARL6, BBS1, BBS10, BBS12, BBS2, BBS4
2MP:000538111.0BBS2, BBS4, BBS7, IFT27, MKS1, SDCCAG8
3MP:000539410.9BBS1, BBS2, BBS4, BBS7, CEP290, MKKS
4MP:000537110.8BBS1, BBS2, BBS5, BBS7, IFT27, MKKS
5MP:000538510.8ARL6, BBS1, BBS4, BBS5, BBS7, CEP290
6MP:000538610.8ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2
7MP:000538810.8BBS1, BBS4, CEP290, IFT27, MKKS, MKS1
8MP:000538910.7ARL6, BBIP1, BBS1, BBS2, BBS4, BBS7
9MP:000538210.7ARL6, BBS1, BBS4, BBS7, CEP290, IFT27
10MP:000536710.7BBS1, BBS10, BBS12, BBS2, BBS4, BBS7
11MP:000537610.6BBS1, BBS10, BBS12, BBS2, BBS4, BBS5
12MP:000538410.6ARL6, BBS1, BBS10, BBS2, BBS4, BBS7
13MP:001076810.6BBIP1, BBS1, BBS10, BBS4, BBS7, CEP290
14MP:000537810.4ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2
15MP:000363110.4ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2
16MP:00053919.6ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2

Drugs & Therapeutics for Bardet-Biedl Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mentholapproved26062216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
2Liver Extracts4067
3Insulin, Globin Zinc4645
4insulin4646

Interventional clinical trials:

idNameStatusNCT IDPhase
1Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of ObesityRecruitingNCT03013543Phase 2, Phase 3
2Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in AdultsCompletedNCT00213811
3Phenotype and Etiology of Pallister-Hall SyndromeCompletedNCT00001404
4Clinical Registry Investigating Bardet-Biedl SyndromeRecruitingNCT02329210
5Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME)RecruitingNCT02510989
6Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
7UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998
8Clinical and Molecular Investigations Into CiliopathiesActive, not recruitingNCT00068224
9Genetics and Clinical Characteristics of Bardet-Biedl SyndromeTerminatedNCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome


Cochrane evidence based reviews: bardet-biedl syndrome

Genetic Tests for Bardet-Biedl Syndrome

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Genetic tests related to Bardet-Biedl Syndrome:

id Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome27 24 ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9 (show all 16)

CEP290, MKKS, MKS1, TRIM32, TTC8, WDPCP

Anatomical Context for Bardet-Biedl Syndrome

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MalaCards organs/tissues related to Bardet-Biedl Syndrome:

36
Kidney, Pituitary, Eye, Brain, Skeletal muscle, Ovary, Testes

Publications for Bardet-Biedl Syndrome

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Articles related to Bardet-Biedl Syndrome:

(show top 50)    (show all 431)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Bardet-Biedl Syndrome:

5 (show all 82)
id Gene Variation Type Significance SNP ID Assembly Location
1BBS1NM_ 024649.4(BBS1): c.1169T> G (p.Met390Arg)SNVPathogenicrs113624356GRCh37Chr 11, 66293652: 66293652
2BBS1NM_ 024649.4(BBS1): c.1645G> T (p.Glu549Ter)SNVPathogenic/ Likely pathogenicrs121917777GRCh37Chr 11, 66299163: 66299163
3BBS1NM_ 024649.4(BBS1): c.432+1G> ASNVPathogenic/ Likely pathogenicrs587777829GRCh38Chr 11, 66514679: 66514679
4BBIP1NM_ 001195306.1(BBIP1): c.173T> G (p.Leu58Ter)SNVPathogenicrs515726134GRCh38Chr 10, 110900466: 110900466
5LZTFL1NM_ 020347.3(LZTFL1): c.260T> C (p.Leu87Pro)SNVPathogenicrs515726135GRCh37Chr 3, 45877145: 45877145
6LZTFL1NM_ 020347.3(LZTFL1): c.778G> T (p.Glu260Ter)SNVPathogenicrs515726136GRCh38Chr 3, 45827459: 45827459
7BBS10NM_ 024685.3(BBS10): c.271dupT (p.Cys91Leufs)duplicationPathogenicrs549625604GRCh38Chr 12, 76347714: 76347714
8BBS10NM_ 024685.3(BBS10): c.1091delA (p.Asn364Thrfs)deletionPathogenic/ Likely pathogenicrs727503818GRCh37Chr 12, 76740674: 76740674
9BBS1NM_ 024649.4(BBS1): c.436C> T (p.Arg146Ter)SNVLikely pathogenicrs786204444GRCh38Chr 11, 66515543: 66515543
10BBS1NM_ 024649.4(BBS1): c.1285C> T (p.Arg429Ter)SNVLikely pathogenicrs768443448GRCh37Chr 11, 66294224: 66294224
11BBS1NM_ 024649.4(BBS1): c.1131_ 1135delCTTTG (p.Cys377Trpfs)deletionLikely pathogenicrs786204701GRCh38Chr 11, 66526143: 66526147
12BBS9NM_ 198428.2(BBS9): c.263C> A (p.Ser88Ter)SNVPathogenic/ Likely pathogenicrs749974697GRCh37Chr 7, 33192463: 33192463
13BBS5NM_ 152384.2(BBS5): c.532G> A (p.Gly178Arg)SNVLikely pathogenicrs786205636GRCh37Chr 2, 170350260: 170350260
14BBS1NM_ 024649.4(BBS1): c.887delT (p.Ile296Thrfs)deletionPathogenicrs794727006GRCh37Chr 11, 66290983: 66290983
15CEP290NM_ 025114.3(CEP290): c.4243G> T (p.Glu1415Ter)SNVLikely pathogenicrs797044604GRCh38Chr 12, 88086450: 88086450
16BBS10NM_ 024685.3(BBS10): c.687delT (p.Val230Phefs)deletionPathogenicrs761101213GRCh37Chr 12, 76741078: 76741078
17BBS10NM_ 024685.3(BBS10): c.531C> A (p.Tyr177Ter)SNVPathogenic/ Likely pathogenicrs863224522GRCh38Chr 12, 76347454: 76347454
18BBS7NM_ 176824.2(BBS7): c.1986_ 1988delGCAinsT (p.Lys662Asnfs)indelPathogenicrs863224529GRCh37Chr 4, 122749327: 122749329
19BBS7NM_ 176824.2(BBS7): c.389_ 390delAC (p.Asn130Thrfs)deletionPathogenicrs863224530GRCh37Chr 4, 122780285: 122780286
20BBS9NM_ 198428.2(BBS9): c.(?_ -1)_ 328+?deldeletionPathogenicGRCh37Chr 7, 33185864: 33195314
21BBS9NM_ 198428.2(BBS9): c.1370T> A (p.Leu457Ter)SNVPathogenicrs762511626GRCh38Chr 7, 33349108: 33349108
22BBS9NM_ 198428.2(BBS9): c.1423G> T (p.Glu475Ter)SNVPathogenicrs863224534GRCh38Chr 7, 33349161: 33349161
23MKKSNM_ 170784.2(MKKS): c.431_ 441delTTAGTAGTACT (p.Phe144Serfs)deletionPathogenicrs113994195GRCh37Chr 20, 10393722: 10393732
24MKKSNM_ 170784.2(MKKS): c.876_ 877insCCTG (p.Cys293Profs)insertionPathogenicrs113994196GRCh37Chr 20, 10393286: 10393287
25BBS1NM_ 024649.4(BBS1): c.1340-2A> GSNVPathogenicrs113994180GRCh37Chr 11, 66297288: 66297288
26BBS1NM_ 024649.4(BBS1): c.831-3C> GSNVPathogenicrs113994179GRCh37Chr 11, 66290924: 66290924
27BBS1NM_ 024649.4(BBS1): c.-3_ 37del40deletionPathogenicrs113994178GRCh37Chr 11, 66278128: 66278167
28BBS4NM_ 033028.4(BBS4): c.220+1G> CSNVPathogenicrs113994190GRCh37Chr 15, 73004649: 73004649
29BBS4NM_ 033028.4(BBS4): c.406-2A> CSNVPathogenicrs113994191GRCh37Chr 15, 73015133: 73015133
30BBS1NM_ 024649.4(BBS1): c.48-3C> GSNVPathogenicrs869025204GRCh37Chr 11, 66278481: 66278481
31BBS1NM_ 024649.4(BBS1): c.1012C> T (p.Gln338Ter)SNVPathogenicrs869025205GRCh37Chr 11, 66291255: 66291255
32BBS10NM_ 024685.3(BBS10): c.145C> T (p.Arg49Trp)SNVPathogenicrs768933093GRCh37Chr 12, 76741994: 76741994
33BBS1NM_ 024649.4(BBS1): c.416G> A (p.Trp139Ter)SNVPathogenicrs878855095GRCh38Chr 11, 66514662: 66514662
34TRAPPC3NM_ 001270894.1(TRAPPC3): c.208C> T (p.Arg70Trp)SNVLikely pathogenicrs751375244GRCh37Chr 1, 36605377: 36605377
35BBS2NM_ 031885.3(BBS2): c.806T> G (p.Val269Gly)SNVLikely pathogenicrs886039797GRCh37Chr 16, 56536719: 56536719
36BBS1NM_ 024649.4(BBS1): c.1424dupT (p.Ser476Glufs)duplicationPathogenicrs886039798GRCh38Chr 11, 66529903: 66529903
37BBS2NG_ 009312.1: g.(19335_ 22476)_ (28317_ 39545)deldeletionPathogenicGRCh38Chr 16, 56485739: 56505949
38BBS9NM_ 198428.2(BBS9): c.956delC (p.Thr319Asnfs)deletionPathogenicrs886039799GRCh37Chr 7, 33313508: 33313508
39BBS4NM_ 033028.4(BBS4): c.1226delG (p.Ser409Thrfs)deletionPathogenicrs886039800GRCh38Chr 15, 72735944: 72735944
40BBS9NM_ 198428.2(BBS9): c.2115+1G> ASNVPathogenicrs886039801GRCh38Chr 7, 33388145: 33388145
41BBS4NM_ 033028.4(BBS4): c.172C> T (p.Gln58Ter)SNVPathogenicrs886039802GRCh38Chr 15, 72712259: 72712259
42BBS1NM_ 024649.4: r.1232_ 3423deldeletionPathogenicGRCh37Chr 11, 66294159: 66301137
43BBS9NM_ 198428.2(BBS9): c.223C> T (p.Arg75Ter)SNVPathogenicrs775081992GRCh37Chr 7, 33192423: 33192423
44BBS7NM_ 176824.2(BBS7): c.632C> T (p.Thr211Ile)SNVPathogenicrs119466002GRCh37Chr 4, 122775945: 122775945
45BBS10NM_ 024685.3(BBS10): c.273C> G (p.Cys91Trp)SNVPathogenicrs148374859GRCh37Chr 12, 76741492: 76741492
46BBS12NM_ 152618.2(BBS12): c.2023C> T (p.Arg675Ter)SNVLikely pathogenicrs752202089GRCh37Chr 4, 123665070: 123665070
47BBS1NM_ 024649.4(BBS1): c.670G> A (p.Glu224Lys)SNVLikely pathogenicrs193922709GRCh37Chr 11, 66287166: 66287166
48BBS2NM_ 031885.3(BBS2): c.1015C> T (p.Arg339Ter)SNVLikely pathogenicrs193922710GRCh37Chr 16, 56536294: 56536294
49BBS2NM_ 031885.3(BBS2): c.1770delT (p.Phe590Leufs)deletionPathogenic/ Likely pathogenicrs193922711GRCh37Chr 16, 56531682: 56531682
50BBS1NM_ 024649.4(BBS1): c.786delG (p.Ala264Profs)deletionLikely pathogenicrs1057516330GRCh37Chr 11, 66288803: 66288803
51BBS1NM_ 024649.4(BBS1): c.479G> A (p.Arg160Gln)SNVLikely pathogenicrs376894444GRCh38Chr 11, 66515586: 66515586
52BBS1NM_ 024649.4(BBS1): c.981delC (p.Ala328Glnfs)deletionLikely pathogenicrs1057516371GRCh38Chr 11, 66523753: 66523753
53BBS1NM_ 024649.4(BBS1): c.855C> A (p.Cys285Ter)SNVLikely pathogenicrs1057516427GRCh38Chr 11, 66523480: 66523480
54BBS1NM_ 024649.4(BBS1): c.124+1G> CSNVLikely pathogenicrs1057516449GRCh38Chr 11, 66511090: 66511090
55BBS1NM_ 024649.4(BBS1): c.223_ 224delCT (p.Leu75Glyfs)deletionLikely pathogenicrs1057516451GRCh38Chr 11, 66514469: 66514470
56BBS1NM_ 024649.4(BBS1): c.519-2A> GSNVLikely pathogenicrs1057516502GRCh37Chr 11, 66283330: 66283330
57BBS1NM_ 024649.4(BBS1): c.159+2T> ASNVLikely pathogenicrs1057516507GRCh37Chr 11, 66278712: 66278712
58BBS1NM_ 024649.4(BBS1): c.1072delT (p.Tyr358Ilefs)deletionPathogenic/ Likely pathogenicrs1057516533GRCh38Chr 11, 66523844: 66523844
59BBS1NM_ 024649.4(BBS1): c.952-1G> ASNVLikely pathogenicrs1057516661GRCh38Chr 11, 66523723: 66523723
60BBS1NM_ 024649.4(BBS1): c.951+1G> ASNVLikely pathogenicrs746875134GRCh37Chr 11, 66291048: 66291048
61BBS1NM_ 024649.4(BBS1): c.1423delC (p.Leu475Terfs)deletionLikely pathogenicrs1057516901GRCh38Chr 11, 66529902: 66529902
62BBS1NM_ 024649.4(BBS1): c.480-1G> CSNVLikely pathogenicrs1057516933GRCh37Chr 11, 66283163: 66283163
63BBS1NM_ 024649.4(BBS1): c.182delC (p.Pro61Leufs)deletionLikely pathogenicrs1057517007GRCh38Chr 11, 66514428: 66514428
64BBS1NM_ 024649.4(BBS1): c.1514_ 1515delTG (p.Leu505Profs)deletionPathogenicrs775769424GRCh38Chr 11, 66530934: 66530935
65BBS1NM_ 024649.4(BBS1): c.48-2A> CSNVLikely pathogenicrs764245266GRCh37Chr 11, 66278482: 66278482
66BBS1NM_ 024649.4(BBS1): c.1643dupT (p.Glu549Glyfs)duplicationLikely pathogenicrs1057517135GRCh37Chr 11, 66299161: 66299161
67BBS1NM_ 024649.4(BBS1): c.871C> T (p.Gln291Ter)SNVPathogenicrs1057517143GRCh38Chr 11, 66523496: 66523496
68BBS1NM_ 024649.4(BBS1): c.831-2A> GSNVLikely pathogenicrs1057517332GRCh38Chr 11, 66523454: 66523454
69BBS10NM_ 024685.3(BBS10): c.257_ 261delTTATT (p.Phe86Tyrfs)deletionPathogenicrs1060500996GRCh38Chr 12, 76347724: 76347728
70BBS10NM_ 024685.3(BBS10): c.2119_ 2120delGT (p.Val707Terfs)deletionPathogenicrs775950661GRCh38Chr 12, 76345865: 76345866
71BBS9NM_ 198428.2(BBS9): c.263+1G> ASNVPathogenicrs137962929GRCh38Chr 7, 33152852: 33152852
72BBS1NM_ 024649.4(BBS1): c.17dupC (p.Ser7Ilefs)duplicationPathogenicGRCh38Chr 11, 66510676: 66510676
73BBS1NM_ 024649.4(BBS1): c.1240G> T (p.Glu414Ter)SNVPathogenicrs1060503690GRCh38Chr 11, 66526708: 66526708
74BBS4NM_ 033028.4(BBS4): c.513T> A (p.Tyr171Ter)SNVPathogenicrs367882912GRCh38Chr 15, 72724581: 72724581
75BBS4NM_ 033028.4(BBS4): c.638T> A (p.Leu213Ter)SNVPathogenicrs1060503692GRCh38Chr 15, 72727990: 72727990
76BBS2NM_ 031885.3(BBS2): c.823C> T (p.Arg275Ter)SNVPathogenicrs121908177GRCh37Chr 16, 56536702: 56536702
77ARL6NM_ 177976.3(ARL6): c.272T> C (p.Ile91Thr)SNVPathogenicrs137854907GRCh37Chr 3, 97503816: 97503816
78BBS12NM_ 001178007.1(BBS12): c.323C> G (p.Pro108Arg)SNVPathogenicrs151344630GRCh37Chr 4, 123663370: 123663370
79BBS5NM_ 152384.2(BBS5): c.413G> A (p.Arg138His)SNVPathogenicrs179363897GRCh37Chr 2, 170349410: 170349410
80TRIM32NM_ 012210.3(TRIM32): c.388C> T (p.Pro130Ser)SNVPathogenicrs111033571GRCh37Chr 9, 119460409: 119460409
81BBS4NM_ 033028.4(BBS4): c.77-220delAdeletionPathogenicrs113994189GRCh37Chr 15, 73001821: 73001821
82BBS4NM_ 033028.4(BBS4): c.157-2A> GSNVPathogenicrs113994192GRCh37Chr 15, 73004583: 73004583

Expression for genes affiliated with Bardet-Biedl Syndrome

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

Pathways for genes affiliated with Bardet-Biedl Syndrome

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GO Terms for genes affiliated with Bardet-Biedl Syndrome

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1axonemeGO:000593011.1ARL6, BBS1, BBS7, WDPCP
2ciliary transition zoneGO:003586911.1BBS4, BBS9, CEP290, MKS1
3centriolar satelliteGO:003445111.1BBS4, BBS9, CEP290, SDCCAG8
4centrioleGO:000581411.1BBS4, CEP290, MKS1, SDCCAG8
5ciliary membraneGO:006017011.0BBS1, BBS2, BBS4, BBS5, BBS7, BBS9
6MKS complexGO:003603810.9CEP290, MKS1
7BBSomeGO:003446410.9ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
8ciliary basal bodyGO:003606410.9BBS1, BBS2, BBS4, BBS5, BBS7, CEP290
9centrosomeGO:000581310.8BBS1, BBS4, BBS7, CEP290, IFT27, MKKS
10pericentriolar materialGO:000024210.8BBS4, BBS9
11motile ciliumGO:003151410.7BBS2, BBS4, IFT27, MKKS
12cytoskeletonGO:000585610.6ARL6, BBS1, BBS2, BBS4, BBS5, BBS7
13microtubule organizing centerGO:000581510.5BBS1, BBS2, BBS4, BBS5, BBS7, BBS9
14cell projectionGO:004299510.5ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2
15ciliumGO:000592910.5ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2
16cytoplasmGO:000573710.4ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
17photoreceptor connecting ciliumGO:003239110.3BBS4, CEP290, TTC8
18cytosolGO:000582910.3ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5

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

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1Golgi to plasma membrane protein transportGO:004300111.2BBS1, BBS2
2artery smooth muscle contractionGO:001482411.2BBS2, MKKS
3protein localization to organelleGO:003336511.2BBS2, BBS4
4face developmentGO:006032411.2BBS4, MKKS
5de novo protein foldingGO:000645811.2BBS12, MKKS
6negative regulation of actin filament polymerizationGO:003083711.2BBS4, MKKS
7pigment granule aggregation in cell centerGO:005187711.2BBS7, MKKS
8motile cilium assemblyGO:004445811.1BBS5, MKS1
9intraciliary transportGO:004207311.1BBS12, IFT27
10brain morphogenesisGO:004885411.1BBS2, BBS4, MKKS
11cerebral cortex developmentGO:002198711.1BBS2, BBS4, MKKS
12protein localizationGO:000810411.1BBS2, BBS4, BBS7
13hippocampus developmentGO:002176611.1BBS2, BBS4, MKKS
14leptin-mediated signaling pathwayGO:003321011.1BBS2, BBS4, MKKS
15negative regulation of appetite by leptin-mediated signaling pathwayGO:003810811.1BBS2, BBS4, MKKS
16chaperone-mediated protein complex assemblyGO:005113111.1BBS10, BBS12, MKKS
17positive regulation of multicellular organism growthGO:004001811.1BBS2, BBS4, MKKS
18regulation of smoothened signaling pathwayGO:000858911.1ARL6, MKS1
19sensory processingGO:005089311.1BBS4, TTC8
20regulation of cilium beat frequency involved in ciliary motilityGO:006029611.1BBS2, BBS4, MKKS
21response to leptinGO:004432111.1BBS2, BBS4, MKKS
22retina homeostasisGO:000189511.1BBS1, BBS10, BBS4
23negative regulation of GTPase activityGO:003426011.1BBS4, MKKS, TTC8
24striatum developmentGO:002175611.1BBS2, BBS4, MKKS
25regulation of stress fiber assemblyGO:005149211.1BBS4, MKKS, TTC8
26heart loopingGO:000194711.1BBS4, BBS5, BBS7, MKKS
27intracellular transportGO:004690711.1BBS4, BBS5, BBS7, MKKS
28protein localization to ciliumGO:006151211.1ARL6, BBS1, BBS4, BBS9
29ciliary basal body dockingGO:009771111.1CEP290, MKS1, SDCCAG8
30inner ear receptor stereocilium organizationGO:006012211.1IFT27, MKS1, TTC8
31smoothened signaling pathwayGO:000722411.0BBS7, IFT27, WDPCP
32determination of left/right symmetryGO:000736811.0ARL6, BBS7, MKKS, MKS1
33photoreceptor cell maintenanceGO:004549411.0BBS1, BBS10, BBS12, BBS2, BBS4, MKKS
34melanosome transportGO:003240211.0ARL6, BBS2, BBS4, BBS5, BBS7, MKKS
35vasodilationGO:004231111.0BBS2, MKKS
36non-motile cilium assemblyGO:190551510.9BBS1, BBS10, BBS2, BBS4, BBS7, MKKS
37fat cell differentiationGO:004544410.9ARL6, BBS2, BBS4, BBS7, BBS9, MKKS
38response to stimulusGO:005089610.8ARL6, BBS1, BBS10, BBS2, BBS4, BBS5
39protein transportGO:001503110.7ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
40cell projection organizationGO:003003010.6ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
41cilium assemblyGO:006027110.6ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
42transportGO:000681010.5ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
43visual perceptionGO:000760110.1ARL6, BBS1, BBS10, BBS2, BBS4, BBS5

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II repressing transcription factor bindingGO:000110310.1BBS1, BBS10, BBS2, BBS4, BBS5, BBS7
2protein bindingGO:00055159.8ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2

Sources for Bardet-Biedl Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet