MCID: BRD002
MIFTS: 62

Bardet-Biedl Syndrome 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, 26GTR, 29ICD10, 30ICD10 via Orphanet, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Bardet-Biedl Syndrome:

Name: Bardet-Biedl Syndrome 11 23 47 24 25 53 49 38 13 67
Biedl-Bardet Syndrome 23 47 24 26
 
Bbs 47 24 25 53

Characteristics:

Orphanet epidemiological data:

53
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
ICD1029 Q87.89
MeSH38 D020788
NCIt44 C118632
SNOMED-CT61 5619004
Orphanet53 ORPHA110
MESH via Orphanet39 D020788
ICD10 via Orphanet30 Q87.8
UMLS via Orphanet68 C0752166

Summaries for Bardet-Biedl Syndrome

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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.

MalaCards based summary: Bardet-Biedl Syndrome, also known as biedl-bardet syndrome, is related to bardet-biedl syndrome 3 and bbs2-related bardet-biedl syndrome, and has symptoms including multicystic kidney dysplasia, abnormal electroretinogram and postaxial hand polydactyly. 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, ovary and pituitary, and related mouse phenotypes are adipose tissue and hearing/vestibular/ear.

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:70 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 104)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome 335.0ARL6, BBS1, BBS2, BBS9
2bbs2-related bardet-biedl syndrome34.3BBS1, BBS10
3obesity31.4ARL6, BBS1, BBS10, BBS12, BBS2, BBS4
4bardet-biedl syndrome 112.7
5bardet-biedl syndrome 512.6
6bardet-biedl syndrome 912.6
7bardet-biedl syndrome 412.6
8bardet-biedl syndrome 212.5
9bardet-biedl syndrome 1212.5
10bardet-biedl syndrome 1112.5
11bardet-biedl syndrome 1012.5
12bardet-biedl syndrome 712.5
13bardet-biedl syndrome 812.5
14bardet-biedl syndrome 612.5
15bardet-biedl syndrome 1612.4
16bardet-biedl syndrome 1512.4
17bardet-biedl syndrome 1712.4
18bardet-biedl syndrome 1812.4
19bardet-biedl syndrome 1412.4
20bardet-biedl syndrome 1312.4
21bardet-biedl syndrome 1912.4
22bbip1-related bardet-biedl syndrome12.1
23c2orf86-related bardet-biedl syndrome12.1
24ift27-related bardet-biedl syndrome12.1
25lztfl1- related bardet-biedl syndrome12.1
26arl6-related bardet-biedl syndrome12.1
27bbs1-related bardet-biedl syndrome12.1
28bbs10-related bardet-biedl syndrome12.1
29bbs12-related bardet-biedl syndrome12.1
30bbs4-related bardet-biedl syndrome12.1
31bbs5-related bardet-biedl syndrome12.1
32bbs7-related bardet-biedl syndrome12.1
33bbs9-related bardet-biedl syndrome12.1
34cep290-related bardet-biedl syndrome12.1
35mkks-related bardet-biedl syndrome12.1
36mks1-related bardet-biedl syndrome12.1
37trim32-related bardet-biedl syndrome12.1
38ttc8-related bardet-biedl syndrome12.1
39wdpcp-related bardet-biedl syndrome12.1
40sdccag8-related bardet-biedl syndrome12.0
41alstrom syndrome11.6
42mental retardation, truncal obesity, retinal dystrophy, and micropenis11.3
43laurence-moon syndrome11.3
44biemond syndrome11.1
45celiac disease 610.7BBS10, BBS12
46congenital heart defects, multiple types, 310.7BBS10, TRIM32
47auriculocondylar syndrome 210.7MKKS, MKS1
48senior-loken syndrome-110.7CEP290, MKS1, SDCCAG8
49slowed nerve conduction velocity, ad10.7BBS1, BBS2, BBS4, BBS7, MKKS
50epileptic encephalopathy, early infantile, 1210.7BBS1, BBS2, BBS4, BBS7, MKKS, MKS1

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome:



Diseases related to bardet-biedl syndrome

Symptoms for Bardet-Biedl Syndrome

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Human phenotypes related to Bardet-Biedl Syndrome:

 63 53 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0000003
2 abnormal electroretinogram63 53 hallmark (90%) Very frequent (99-80%) HP:0000512
3 postaxial hand polydactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001162
4 obesity63 53 hallmark (90%) Very frequent (99-80%) HP:0001513
5 abnormality of retinal pigmentation63 hallmark (90%) HP:0007703
6 cognitive impairment63 hallmark (90%) HP:0100543
7 polycystic ovaries63 typical (50%) HP:0000147
8 nystagmus63 53 typical (50%) Frequent (79-30%) HP:0000639
9 hypertension63 53 typical (50%) Frequent (79-30%) HP:0000822
10 short stature63 53 typical (50%) Frequent (79-30%) HP:0004322
11 hypoplasia of penis63 53 typical (50%) Frequent (79-30%) HP:0008736
12 cryptorchidism63 53 occasional (7.5%) Occasional (29-5%) HP:0000028
13 nephrotic syndrome63 53 occasional (7.5%) Occasional (29-5%) HP:0000100
14 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
15 low-set, posteriorly rotated ears63 53 occasional (7.5%) Occasional (29-5%) HP:0000368
16 prominent nasal bridge63 53 occasional (7.5%) Occasional (29-5%) HP:0000426
17 short neck63 53 occasional (7.5%) Occasional (29-5%) HP:0000470
18 downslanted palpebral fissures63 53 occasional (7.5%) Occasional (29-5%) HP:0000494
19 hypertrichosis63 occasional (7.5%) HP:0000998
20 hepatic failure63 occasional (7.5%) HP:0001399
21 neurological speech impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0002167
22 finger syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0006101
23 medial flaring of the eyebrow63 53 occasional (7.5%) Occasional (29-5%) HP:0010747
24 hypogonadism53 Frequent (79-30%)
25 pigmentary retinopathy53 Very frequent (99-80%)
26 intellectual disability53 Very frequent (99-80%)
27 hepatic fibrosis53 Occasional (29-5%)
28 generalized hirsutism53 Occasional (29-5%)
29 skeletal muscle atrophy53 Occasional (29-5%)
30 hypoplasia of the ovary53 Frequent (79-30%)

UMLS symptoms related to Bardet-Biedl Syndrome:


hyperexplexia

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
Mentholapproved23532216-51-516666
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 Extracts3868
3Insulin, Globin Zinc4523
4insulin4524

Interventional clinical trials:

idNameStatusNCT IDPhase
1Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of ObesityNot yet recruitingNCT03013543Phase 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 Syndrome26 24 ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9 (show all 17)

CEP290, IFT27, MKKS, MKS1, TRIM32, TTC8, WDPCP

Anatomical Context for Bardet-Biedl Syndrome

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MalaCards organs/tissues related to Bardet-Biedl Syndrome:

35
Kidney, Ovary, Pituitary, Eye, Liver, Skeletal muscle, Brain

Animal Models for Bardet-Biedl Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

40 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537511.0ARL6, BBS1, BBS12, BBS2, BBS4, BBS5
2MP:000537711.0BBS1, BBS4, MKKS, MKS1, WDPCP
3MP:000539410.7BBS1, BBS2, BBS4, BBS7, CEP290, MKKS
4MP:000538110.7BBS2, BBS4, BBS7, IFT172, IFT27, MKS1
5MP:000538610.6ARL6, BBIP1, BBS1, BBS12, BBS2, BBS4
6MP:000537110.6BBS1, BBS2, BBS5, BBS7, IFT172, IFT27
7MP:000538910.6ARL6, BBIP1, BBS1, BBS2, BBS4, BBS7
8MP:000538510.5ARL6, BBS1, BBS4, BBS5, BBS7, CEP290
9MP:000538810.5BBS1, BBS4, CEP290, IFT172, IFT27, MKKS
10MP:000536710.5BBS1, BBS12, BBS2, BBS4, BBS7, CEP290
11MP:000538210.4ARL6, BBS1, BBS4, BBS7, CEP290, IFT172
12MP:000538410.4ARL6, BBS1, BBS2, BBS4, BBS7, CEP290
13MP:000537610.3BBS1, BBS10, BBS12, BBS2, BBS4, BBS5
14MP:001076810.3BBIP1, BBS1, BBS10, BBS4, BBS7, CEP290
15MP:000363110.1ARL6, BBIP1, BBS1, BBS12, BBS2, BBS4
16MP:000537810.1ARL6, BBIP1, BBS1, BBS12, BBS2, BBS4
17MP:00053919.3ARL6, BBIP1, BBS1, BBS12, BBS2, BBS4

Publications for Bardet-Biedl Syndrome

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Articles related to Bardet-Biedl Syndrome:

(show top 50)    (show all 424)
idTitleAuthorsYear
1
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome. (27879052)
2016
2
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. (27853007)
2016
3
Oral healthcare management in Bardet Biedl syndrome. (27571505)
2016
4
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. (24608809)
2014
5
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. (24488770)
2014
6
Choroidal neovascularization in Bardet-Biedl syndrome. (23565731)
2013
7
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. (23432027)
2013
8
A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family. (23403234)
2013
9
Bardet-Biedl syndrome and subaortic membrane: co-occurrence of two rare conditions. (23518940)
2013
10
Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. (23219996)
2013
11
Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. (22022287)
2011
12
Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome. (21204204)
2011
13
Abnormal cystatin C levels in two patients with bardet-biedl syndrome. (21769262)
2011
14
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies. (21477661)
2011
15
Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report. (21843323)
2011
16
Inactivation of Bardet-Biedl syndrome genes causes kidney defects. (21106857)
2011
17
Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes. (20120035)
2010
18
Laurence Moon Bardet Biedl Syndrome. (19377420)
2009
19
Recurrent pyocolpos in a Laurence-Moon-Bardet-Biedl syndrome. (18312798)
2008
20
Retinal dysfunction in carriers of bardet-biedl syndrome. (17896315)
2007
21
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. (17322606)
2007
22
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. (17959775)
2007
23
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. (17003356)
2006
24
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. (16380913)
2005
25
Comparative genomic analysis identifies an ADP-ribosylation factor- like gene as the cause of Bardet-Biedl Syndrome (BBS3). (15258860)
2004
26
Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. (15340663)
2004
27
Orthopaedic manifestations of Bardet-Biedl syndrome. (14676542)
2004
28
Further support for digenic inheritance in Bardet-Biedl syndrome. (12920096)
2003
29
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. (14520415)
2003
30
Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome. (11196121)
1999
31
Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. (10187963)
1999
32
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. (10577921)
1999
33
Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity? (10211669)
1999
34
Nystagmus mimicking spasmus nutans as the presenting sign of Bardet-Biedl syndrome. (10612522)
1999
35
A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus]. (10063326)
1998
36
Bardet-Biedl syndrome: a review of Chinese literature and a report of two cases. (9695094)
1998
37
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. (9134546)
1997
38
Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome. (8667262)
1996
39
Laurence-Moon-Bardet-Biedl syndrome. (9053416)
1995
40
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. (8075632)
1994
41
Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. (2333905)
1990
42
High incidence of Bardet Biedl syndrome among the Bedouin. (2591073)
1989
43
A family with the Bardet-Biedl syndrome and diabetes mellitus. (2730406)
1989
44
Hypothalamic-pituitary dysfunction and Hirschsprung's disease in the Bardet-Biedl syndrome. (3065301)
1988
45
Bardet-Biedl syndrome and retinitis punctata albescens in an isolated northern Canadian community. (6733577)
1984
46
Bardet-Biedl syndrome and related disorders. (7065946)
1982
47
Hepatic involvement in the Bardet-Biedl syndrome. (7158637)
1982
48
Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood. (576082)
1977
49
Ocular changes in Lawrence Moon Bardet Biedl Syndrome: a clinical and histopathologic study of a case. (848400)
1977
50
LAURENCE-MOON-BARDET-BIEDL SYNDROME. REPORT OF 2 CASES IN A FAMILY. (14313697)
1965

Variations for Bardet-Biedl Syndrome

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Clinvar genetic disease variations for Bardet-Biedl Syndrome:

5 (show all 45)
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)SNVLikely pathogenic, Pathogenicrs121917777GRCh37Chr 11, 66299163: 66299163
3BBS1NM_024649.4(BBS1): c.432+1G> ASNVLikely pathogenic, 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)deletionLikely pathogenic, Pathogenicrs727503818GRCh37Chr 12, 76740674: 76740674
9BBS9NM_198428.2(BBS9): c.263C> A (p.Ser88Ter)SNVLikely pathogenic, Pathogenicrs749974697GRCh37Chr 7, 33192463: 33192463
10BBS1NM_024649.4(BBS1): c.887delT (p.Ile296Thrfs)deletionPathogenicrs794727006GRCh37Chr 11, 66290983: 66290983
11BBS10NM_024685.3(BBS10): c.687delT (p.Val230Phefs)deletionPathogenicrs761101213GRCh37Chr 12, 76741078: 76741078
12BBS10NM_024685.3(BBS10): c.531C> A (p.Tyr177Ter)SNVLikely pathogenic, Pathogenicrs863224522GRCh38Chr 12, 76347454: 76347454
13BBS7NM_176824.2(BBS7): c.1986_1988delGCAinsT (p.Lys662Asnfs)indelPathogenicrs863224529GRCh37Chr 4, 122749327: 122749329
14BBS7NM_176824.2(BBS7): c.389_390delAC (p.Asn130Thrfs)deletionPathogenicrs863224530GRCh37Chr 4, 122780285: 122780286
15BBS9NM_198428.2(BBS9): c.(?_-1)_328+?deldeletionPathogenicGRCh37Chr 7, 33185864: 33195314
16BBS9NM_198428.2(BBS9): c.1370T> A (p.Leu457Ter)SNVPathogenicrs762511626GRCh38Chr 7, 33349108: 33349108
17BBS9NM_198428.2(BBS9): c.1423G> T (p.Glu475Ter)SNVPathogenicrs863224534GRCh38Chr 7, 33349161: 33349161
18MKKSNM_170784.2(MKKS): c.431_441delTTAGTAGTACT (p.Phe144Serfs)deletionPathogenicrs113994195GRCh37Chr 20, 10393722: 10393732
19MKKSNM_170784.2(MKKS): c.876_877insCCTG (p.Cys293Profs)insertionPathogenicrs113994196GRCh37Chr 20, 10393286: 10393287
20BBS1NM_024649.4(BBS1): c.1340-2A> GSNVPathogenicrs113994180GRCh37Chr 11, 66297288: 66297288
21BBS1NM_024649.4(BBS1): c.831-3C> GSNVPathogenicrs113994179GRCh37Chr 11, 66290924: 66290924
22BBS1NM_024649.4(BBS1): c.-3_37del40deletionPathogenicrs113994178GRCh37Chr 11, 66278128: 66278167
23BBS4NM_033028.4(BBS4): c.220+1G> CSNVPathogenicrs113994190GRCh37Chr 15, 73004649: 73004649
24BBS4NM_033028.4(BBS4): c.406-2A> CSNVPathogenicrs113994191GRCh37Chr 15, 73015133: 73015133
25BBS1NM_024649.4(BBS1): c.48-3C> GSNVPathogenicrs869025204GRCh37Chr 11, 66278481: 66278481
26BBS1NM_024649.4(BBS1): c.1012C> T (p.Gln338Ter)SNVPathogenicrs869025205GRCh37Chr 11, 66291255: 66291255
27BBS10NM_024685.3(BBS10): c.145C> T (p.Arg49Trp)SNVPathogenicrs768933093GRCh37Chr 12, 76741994: 76741994
28BBS1NM_024649.4(BBS1): c.416G> A (p.Trp139Ter)SNVPathogenicrs878855095GRCh37Chr 11, 66282133: 66282133
29TTC8NM_198309.3(TTC8): c.459G> A (p.Thr153=)SNVPathogenicrs119103286GRCh37Chr 14, 89307540: 89307540
30BBS1NM_024649.4(BBS1): c.1424dupT (p.Ser476Glufs)duplicationPathogenicrs886039798GRCh38Chr 11, 66529903: 66529903
31BBS2NG_009312.1: g.(19335_22476)_(28317_39545)deldeletionPathogenicGRCh38Chr 16, 56485739: 56505949
32BBS9NM_198428.2(BBS9): c.956delC (p.Thr319Asnfs)deletionPathogenicrs886039799GRCh37Chr 7, 33313508: 33313508
33BBS4NM_033028.4(BBS4): c.1226delG (p.Ser409Thrfs)deletionPathogenicrs886039800GRCh38Chr 15, 72735944: 72735944
34BBS9NM_198428.2(BBS9): c.2115+1G> ASNVPathogenicrs886039801GRCh38Chr 7, 33388145: 33388145
35BBS4NM_033028.4(BBS4): c.172C> T (p.Gln58Ter)SNVPathogenicrs886039802GRCh38Chr 15, 72712259: 72712259
36BBS9NM_198428.2(BBS9): c.223C> T (p.Arg75Ter)SNVPathogenicrs775081992GRCh37Chr 7, 33192423: 33192423
37BBS10NM_024685.3(BBS10): c.273C> G (p.Cys91Trp)SNVPathogenicrs148374859GRCh37Chr 12, 76741492: 76741492
38BBS2NM_031885.3(BBS2): c.1770delT (p.Phe590Leufs)deletionLikely pathogenic, Pathogenicrs193922711GRCh37Chr 16, 56531682: 56531682
39BBS2NM_031885.3(BBS2): c.823C> T (p.Arg275Ter)SNVPathogenicrs121908177GRCh37Chr 16, 56536702: 56536702
40ARL6NM_177976.3(ARL6): c.272T> C (p.Ile91Thr)SNVPathogenicrs137854907GRCh37Chr 3, 97503816: 97503816
41BBS12NM_001178007.1(BBS12): c.323C> G (p.Pro108Arg)SNVPathogenicrs151344630GRCh37Chr 4, 123663370: 123663370
42BBS5NM_152384.2(BBS5): c.413G> A (p.Arg138His)SNVPathogenicrs179363897GRCh37Chr 2, 170349410: 170349410
43TRIM32NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser)SNVPathogenicrs111033571GRCh37Chr 9, 119460409: 119460409
44BBS4NM_033028.4(BBS4): c.77-220delAdeletionPathogenicrs113994189GRCh37Chr 15, 73001821: 73001821
45BBS4NM_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 17)
idNameGO IDScoreTop Affiliating Genes
1pericentriolar materialGO:000024211.0BBS4, BBS9
2MKS complexGO:003603811.0CEP290, MKS1
3intraciliary transport particle BGO:003099210.9IFT172, IFT27
4photoreceptor connecting ciliumGO:003239110.9BBS4, CEP290, TTC8
5sperm midpieceGO:009722510.8IFT172, IFT27
6ciliary transition zoneGO:003586910.8BBS4, BBS9, CEP290, MKS1
7centriolar satelliteGO:003445110.8BBS4, BBS9, CEP290, SDCCAG8
8sperm principal pieceGO:009722810.7IFT172, IFT27
9centrioleGO:000581410.7BBS4, CEP290, MKS1, SDCCAG8
10BBSomeGO:003446410.6ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
11motile ciliumGO:003151410.3BBS2, BBS4, IFT27, MKKS
12ciliary basal bodyGO:003606410.3BBS1, BBS2, BBS4, BBS5, BBS7, CEP290
13axonemeGO:000593010.3ARL6, BBS1, BBS7, IFT172, WDPCP
14centrosomeGO:000581310.2BBS1, BBS4, BBS7, CEP290, IFT27, MKKS
15ciliumGO:000592910.0ARL6, BBIP1, BBS10, BBS12, BBS4, BBS9
16ciliary membraneGO:006017010.0ARL6, BBS1, BBS2, BBS4, BBS5, BBS7
17cytosolGO:00058299.1ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5

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

(show all 41)
idNameGO IDScoreTop Affiliating Genes
1artery smooth muscle contractionGO:001482411.0BBS2, MKKS
2Golgi to plasma membrane protein transportGO:004300111.0BBS1, BBS2
3negative regulation of actin filament polymerizationGO:003083711.0BBS4, MKKS
4pigment granule aggregation in cell centerGO:005187711.0BBS7, MKKS
5sensory processingGO:005089311.0BBS4, TTC8
6intraciliary transportGO:004207311.0BBS12, IFT27
7face developmentGO:006032410.9BBS4, MKKS
8negative regulation of appetite by leptin-mediated signaling pathwayGO:003810810.9BBS2, BBS4, MKKS
9leptin-mediated signaling pathwayGO:003321010.9BBS2, BBS4, MKKS
10regulation of stress fiber assemblyGO:005149210.9BBS4, MKKS, TTC8
11response to leptinGO:004432110.9BBS2, BBS4, MKKS
12regulation of cilium beat frequency involved in ciliary motilityGO:006029610.9BBS2, BBS4, MKKS
13protein localization to organelleGO:003336510.9BBS2, BBS4
14chaperone-mediated protein complex assemblyGO:005113110.8BBS10, BBS12, MKKS
15retina homeostasisGO:000189510.8BBS1, BBS10, BBS4
16brain morphogenesisGO:004885410.8BBS2, BBS4, MKKS
17cerebral cortex developmentGO:002198710.8BBS2, BBS4, MKKS
18intracellular transportGO:004690710.7BBS4, BBS5, BBS7, MKKS
19protein localization to ciliumGO:006151210.7ARL6, BBS1, BBS4, BBS9
20regulation of smoothened signaling pathwayGO:000858910.7ARL6, IFT172, MKS1
21inner ear receptor stereocilium organizationGO:006012210.7IFT27, MKS1, TTC8
22establishment of planar polarityGO:000173610.7TTC8, WDPCP
23negative regulation of GTPase activityGO:003426010.7BBS4, MKKS, TTC8
24palate developmentGO:006002110.6BBS7, IFT172, WDPCP
25neural tube closureGO:000184310.6BBS4, IFT172, MKS1
26smoothened signaling pathwayGO:000722410.6BBS7, IFT172, IFT27, WDPCP
27response to stimulusGO:005089610.6BBS1, BBS10, BBS5, BBS9
28melanosome transportGO:003240210.6ARL6, BBS2, BBS4, BBS5, BBS7, MKKS
29fat cell differentiationGO:004544410.5ARL6, BBS2, BBS4, BBS7, BBS9, MKKS
30heart loopingGO:000194710.5BBS4, BBS5, BBS7, IFT172, MKKS
31vasodilationGO:004231110.5BBS2, MKKS
32hippocampus developmentGO:002176610.4BBS2, BBS4, MKKS
33photoreceptor cell maintenanceGO:004549410.3BBS1, BBS10, BBS12, BBS2, BBS4, MKKS
34protein localizationGO:000810410.3BBS2, BBS4, BBS7
35striatum developmentGO:002175610.3BBS2, BBS4, MKKS
36determination of left/right symmetryGO:000736810.3ARL6, BBS7, IFT172, MKKS, MKS1
37adult behaviorGO:003053410.3BBS2, BBS4
38protein transportGO:001503110.2BBIP1, BBS4, BBS5, BBS7, BBS9, CEP290
39visual perceptionGO:000760110.2ARL6, BBS1, BBS10, BBS2, BBS4, BBS5
40positive regulation of multicellular organism growthGO:004001810.0BBS2, BBS4, MKKS
41cilium assemblyGO:00602719.8ARL6, BBIP1, BBS1, 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:000110310.5BBS1, BBS10, BBS2, BBS4, BBS5, BBS7
2protein bindingGO:00055159.0ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2

Sources for Bardet-Biedl Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet