MCID: BRD002
MIFTS: 64

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:
24Genetics Home Reference, 66UMLS, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 25GTR, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Bardet-Biedl Syndrome:

Name: Bardet-Biedl Syndrome 11 22 46 23 24 13 52 48 37 66
Biedl-Bardet Syndrome 22 46 23 25
Bbs 46 23 24 52
Laurence-Moon Syndrome 24 66
 
Laurence-Moon-Bardet-Biedl Syndrome 24
Laurence-Moon-Biedl Syndrome 24
Lmbbs 24
Lms 24

Characteristics:

Orphanet epidemiological data:

52
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

Classifications:



External Ids:

Disease Ontology11 DOID:1935
ICD1028 Q87.89
MeSH37 D020788
NCIt43 C118632
SNOMED-CT60 5619004
Orphanet52 ORPHA110
UMLS via Orphanet67 C0752166
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 D020788

Summaries for Bardet-Biedl Syndrome

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NIH Rare Diseases:46 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. at least 14 genes are known to be associated with bardet-biedl syndrome and 5 additional genes may also be associated with this condition. this condition is usually inherited in an autosomal recessive pattern. the diagnosis is based on the clinical findings.  there is still no cure, and treatment depends on the symptoms. last updated: 7/18/2016

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 BBS10 (Bardet-Biedl Syndrome 10), 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 hearing/vestibular/ear and taste/olfaction.

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:24 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:69 Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

GeneReviews summary 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 118)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome 335.1ARL6, BBS1, BBS2, BBS9
2bbs2-related bardet-biedl syndrome34.6BBS1, BBS10
3obesity32.3ARL6, BBS1, BBS10, BBS12, BBS2, BBS4
4bardet-biedl syndrome 112.6
5bardet-biedl syndrome 512.5
6bardet-biedl syndrome 912.5
7bardet-biedl syndrome 412.5
8bardet-biedl syndrome 212.5
9bardet-biedl syndrome 1212.5
10bardet-biedl syndrome 1112.5
11bardet-biedl syndrome 1012.5
12bardet-biedl syndrome 712.4
13bardet-biedl syndrome 812.4
14bardet-biedl syndrome 612.4
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 syndrome12.2
23c2orf86-related bardet-biedl syndrome12.2
24ift27-related bardet-biedl syndrome12.2
25lztfl1- related bardet-biedl syndrome12.2
26arl6-related bardet-biedl syndrome12.2
27bbs1-related bardet-biedl syndrome12.2
28bbs10-related bardet-biedl syndrome12.2
29bbs12-related bardet-biedl syndrome12.2
30bbs4-related bardet-biedl syndrome12.2
31bbs5-related bardet-biedl syndrome12.2
32bbs7-related bardet-biedl syndrome12.2
33bbs9-related bardet-biedl syndrome12.2
34cep290-related bardet-biedl syndrome12.2
35mkks-related bardet-biedl syndrome12.2
36mks1-related bardet-biedl syndrome12.2
37trim32-related bardet-biedl syndrome12.2
38ttc8-related bardet-biedl syndrome12.2
39wdpcp-related bardet-biedl syndrome12.2
40sdccag8-related bardet-biedl syndrome12.1
41limb-mammary syndrome11.5
42lateral meningocele syndrome11.2
43lenz-majewski hyperostotic dwarfism10.9
44lactose intolerance10.9
45alstrom syndrome10.9
46congenital heart defects, multiple types, 310.8BBS10, TRIM32
47celiac disease 610.8BBS10, BBS12
48auriculocondylar syndrome 210.8MKKS, MKS1
49retinitis10.8
50slowed nerve conduction velocity, ad10.8BBS1, BBS2, BBS4, BBS7, MKKS

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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Symptoms:

 52 (show all 25)
  • multicystic kidney dysplasia
  • cryptorchidism
  • nephrotic syndrome
  • hypogonadism
  • hearing impairment
  • low-set, posteriorly rotated ears
  • prominent nasal bridge
  • short neck
  • downslanted palpebral fissures
  • abnormal electroretinogram
  • pigmentary retinopathy
  • nystagmus
  • hypertension
  • postaxial hand polydactyly
  • intellectual disability
  • hepatic fibrosis
  • obesity
  • neurological speech impairment
  • generalized hirsutism
  • skeletal muscle atrophy
  • short stature
  • finger syndactyly
  • hypoplasia of the ovary
  • hypoplasia of penis
  • medial flaring of the eyebrow

HPO human phenotypes related to Bardet-Biedl Syndrome:

(show all 23)
id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia hallmark (90%) HP:0000003
2 abnormal electroretinogram hallmark (90%) HP:0000512
3 postaxial hand polydactyly hallmark (90%) HP:0001162
4 obesity hallmark (90%) HP:0001513
5 abnormality of retinal pigmentation hallmark (90%) HP:0007703
6 cognitive impairment hallmark (90%) HP:0100543
7 polycystic ovaries typical (50%) HP:0000147
8 nystagmus typical (50%) HP:0000639
9 hypertension typical (50%) HP:0000822
10 short stature typical (50%) HP:0004322
11 hypoplasia of penis typical (50%) HP:0008736
12 cryptorchidism occasional (7.5%) HP:0000028
13 nephrotic syndrome occasional (7.5%) HP:0000100
14 hearing impairment occasional (7.5%) HP:0000365
15 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
16 prominent nasal bridge occasional (7.5%) HP:0000426
17 short neck occasional (7.5%) HP:0000470
18 downslanted palpebral fissures occasional (7.5%) HP:0000494
19 hypertrichosis occasional (7.5%) HP:0000998
20 hepatic failure occasional (7.5%) HP:0001399
21 neurological speech impairment occasional (7.5%) HP:0002167
22 finger syndactyly occasional (7.5%) HP:0006101
23 medial flaring of the eyebrow occasional (7.5%) HP:0010747

UMLS symptoms related to Bardet-Biedl Syndrome:


ataxia, 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
Menthol21842216-51-516666
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
2insulin4401

Interventional clinical trials:

idNameStatusNCT IDPhase
1Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in AdultsCompletedNCT00213811
2Phenotype and Etiology of Pallister-Hall SyndromeCompletedNCT00001404
3Clinical Registry Investigating Bardet-Biedl SyndromeRecruitingNCT02329210
4Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
5Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
6UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998
7Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME)RecruitingNCT02510989
8Genetics 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 Syndrome25 23 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:

34
Kidney, Ovary, Pituitary, Eye, Skeletal muscle, Brain, Testes

Animal Models for Bardet-Biedl Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

39 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537710.6BBS1, BBS4, MKKS, MKS1, WDPCP
2MP:000539410.5BBS1, BBS2, BBS4, BBS7, CEP290, MKKS
3MP:000537510.4ARL6, BBS1, BBS12, BBS2, BBS4, BBS5
4MP:000538110.1BBS2, BBS4, BBS7, IFT172, IFT27, MKS1
5MP:000538810.1BBS1, BBS4, CEP290, IFT172, IFT27, MKKS
6MP:000538910.1ARL6, BBIP1, BBS1, BBS2, BBS4, BBS7
7MP:000538210.0ARL6, BBS1, BBS4, BBS7, CEP290, IFT172
8MP:00053849.8ARL6, BBS1, BBS2, BBS4, BBS7, CEP290
9MP:00053859.8ARL6, BBS1, BBS4, BBS5, BBS7, CEP290
10MP:00053679.7BBS1, BBS12, BBS2, BBS4, BBS7, CEP290
11MP:00053719.7BBS1, BBS2, BBS5, BBS7, IFT172, IFT27
12MP:00107689.6BBIP1, BBS1, BBS10, BBS4, BBS7, CEP290
13MP:00053869.5ARL6, BBIP1, BBS1, BBS12, BBS2, BBS4
14MP:00036319.4ARL6, BBIP1, BBS1, BBS12, BBS2, BBS4
15MP:00053919.3ARL6, BBIP1, BBS1, BBS12, BBS2, BBS4
16MP:00053789.1ARL6, BBIP1, BBS1, BBS12, BBS2, BBS4
17MP:00053769.1BBS1, BBS10, BBS12, BBS2, BBS4, BBS5

Publications for Bardet-Biedl Syndrome

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Articles related to Bardet-Biedl Syndrome:

(show top 50)    (show all 418)
idTitleAuthorsYear
1
Oral healthcare management in Bardet Biedl syndrome. (27571505)
2016
2
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. (24608809)
2014
3
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. (24488770)
2014
4
Choroidal neovascularization in Bardet-Biedl syndrome. (23565731)
2013
5
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. (23432027)
2013
6
A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family. (23403234)
2013
7
Bardet-Biedl syndrome and subaortic membrane: co-occurrence of two rare conditions. (23518940)
2013
8
Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. (23219996)
2013
9
Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. (22022287)
2011
10
Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome. (21204204)
2011
11
Abnormal cystatin C levels in two patients with bardet-biedl syndrome. (21769262)
2011
12
Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies. (21477661)
2011
13
Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report. (21843323)
2011
14
Inactivation of Bardet-Biedl syndrome genes causes kidney defects. (21106857)
2011
15
Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes. (20120035)
2010
16
Laurence Moon Bardet Biedl Syndrome. (19377420)
2009
17
Recurrent pyocolpos in a Laurence-Moon-Bardet-Biedl syndrome. (18312798)
2008
18
Retinal dysfunction in carriers of bardet-biedl syndrome. (17896315)
2007
19
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. (17322606)
2007
20
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. (17959775)
2007
21
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. (17003356)
2006
22
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. (16380913)
2005
23
Comparative genomic analysis identifies an ADP-ribosylation factor- like gene as the cause of Bardet-Biedl Syndrome (BBS3). (15258860)
2004
24
Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. (15340663)
2004
25
Orthopaedic manifestations of Bardet-Biedl syndrome. (14676542)
2004
26
Further support for digenic inheritance in Bardet-Biedl syndrome. (12920096)
2003
27
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. (14520415)
2003
28
Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome. (11196121)
1999
29
Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. (10187963)
1999
30
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
31
Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity? (10211669)
1999
32
Nystagmus mimicking spasmus nutans as the presenting sign of Bardet-Biedl syndrome. (10612522)
1999
33
A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus]. (10063326)
1998
34
Bardet-Biedl syndrome: a review of Chinese literature and a report of two cases. (9695094)
1998
35
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. (9134546)
1997
36
Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome. (8667262)
1996
37
Full-field electroretinograms in individuals with the Laurence-Mood-Bardet-Biedl syndrome. (9017054)
1996
38
Laurence-Moon-Bardet-Biedl syndrome. (9053416)
1995
39
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. (8075632)
1994
40
Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. (2333905)
1990
41
High incidence of Bardet Biedl syndrome among the Bedouin. (2591073)
1989
42
A family with the Bardet-Biedl syndrome and diabetes mellitus. (2730406)
1989
43
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. (2779627)
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
id Gene Variation Type Significance SNP ID Assembly Location
1BBS10NM_024685.3(BBS10): c.271dupT (p.Cys91Leufs)duplicationPathogenicrs549625604GRCh38Chr 12, 76347714: 76347714

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
1pericentriolar materialGO:000024210.9BBS4, BBS9
2MKS complexGO:003603810.9CEP290, 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
8primary ciliumGO:007237210.8ARL6, IFT172, IFT27
9centrioleGO:000581410.6BBS4, CEP290, MKS1, SDCCAG8
10sperm principal pieceGO:009722810.6IFT172, IFT27
11BBSomeGO:003446410.5ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
12motile ciliumGO:003151410.4BBS2, BBS4, IFT27, MKKS
13axonemeGO:000593010.4ARL6, BBS1, BBS7, IFT172, WDPCP
14centrosomeGO:000581310.2BBS1, BBS4, BBS7, CEP290, IFT27, MKKS
15ciliary basal bodyGO:003606410.2BBS1, BBS2, BBS4, BBS5, BBS7, CEP290
16ciliumGO:000592910.0ARL6, BBIP1, BBS10, BBS12, BBS4, BBS9
17ciliary membraneGO:00601709.9ARL6, BBS1, BBS2, BBS4, BBS5, BBS7
18cytosolGO:00058299.2ARL6, 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
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
4sensory processingGO:005089311.0BBS4, TTC8
5pigment granule aggregation in cell centerGO:005187711.0BBS7, MKKS
6intraciliary transportGO:004207310.9BBS12, IFT27
7negative regulation of appetite by leptin-mediated signaling pathwayGO:003810810.9BBS2, BBS4, MKKS
8leptin-mediated signaling pathwayGO:003321010.9BBS2, BBS4, MKKS
9face developmentGO:006032410.9BBS4, MKKS
10regulation of stress fiber assemblyGO:005149210.9BBS4, MKKS, TTC8
11response to leptinGO:004432110.9BBS2, BBS4, MKKS
12protein localization to organelleGO:003336510.9BBS2, BBS4
13regulation of cilium beat frequency involved in ciliary motilityGO:006029610.8BBS2, BBS4, MKKS
14chaperone-mediated protein complex assemblyGO:005113110.8BBS10, BBS12, MKKS
15retina homeostasisGO:000189510.8BBS1, BBS10, BBS4
16establishment of planar polarityGO:000173610.8TTC8, WDPCP
17brain morphogenesisGO:004885410.8BBS2, BBS4, MKKS
18cerebral cortex developmentGO:002198710.8BBS2, BBS4, MKKS
19intracellular transportGO:004690710.7BBS4, BBS5, BBS7, MKKS
20regulation of smoothened signaling pathwayGO:000858910.7ARL6, IFT172, MKS1
21protein localization to ciliumGO:006151210.7ARL6, BBS1, BBS4, BBS9
22inner ear receptor stereocilium organizationGO:006012210.7IFT27, MKS1, TTC8
23response to stimulusGO:005089610.7BBS1, BBS10, BBS5, BBS9
24negative regulation of GTPase activityGO:003426010.7BBS4, MKKS, TTC8
25neural tube closureGO:000184310.7BBS4, IFT172, MKS1
26vasodilationGO:004231110.6BBS2, MKKS
27palate developmentGO:006002110.6BBS7, IFT172, WDPCP
28melanosome transportGO:003240210.5ARL6, BBS2, BBS4, BBS5, BBS7, MKKS
29hippocampus developmentGO:002176610.5BBS2, BBS4, MKKS
30heart loopingGO:000194710.5BBS4, BBS5, BBS7, IFT172, MKKS
31smoothened signaling pathwayGO:000722410.5BBS7, IFT172, IFT27, WDPCP
32fat cell differentiationGO:004544410.4ARL6, BBS2, BBS4, BBS7, BBS9, MKKS
33adult behaviorGO:003053410.4BBS2, BBS4
34protein localizationGO:000810410.4BBS2, BBS4, BBS7
35nonmotile primary cilium assemblyGO:003505810.4BBS1, BBS10, BBS2, BBS4, BBS7, MKKS
36positive regulation of multicellular organism growthGO:004001810.3BBS2, BBS4, MKKS
37determination of left/right symmetryGO:000736810.2ARL6, BBS7, IFT172, MKKS, MKS1
38cilium morphogenesisGO:006027110.2BBS2, BBS4, BBS7, CEP290, IFT172, MKKS
39protein transportGO:001503110.2BBIP1, BBS4, BBS5, BBS7, BBS9, CEP290
40striatum developmentGO:002175610.2BBS2, BBS4, MKKS
41photoreceptor cell maintenanceGO:004549410.1BBS1, BBS10, BBS12, BBS2, BBS4, MKKS
42cilium assemblyGO:00423849.8ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
43visual perceptionGO:00076019.6ARL6, 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:000110310.5BBS1, BBS10, BBS2, BBS4, BBS5, BBS7
2protein bindingGO:00055158.9ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2

Sources for Bardet-Biedl Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet