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, 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

About this section
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 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.

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

About this section

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 & Phenotypes for Bardet-Biedl Syndrome

About this section

Human phenotypes related to Bardet-Biedl Syndrome:

 64 54 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0000003
2 abnormal electroretinogram64 54 hallmark (90%) Very frequent (99-80%) HP:0000512
3 postaxial hand polydactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001162
4 obesity64 54 hallmark (90%) Very frequent (99-80%) HP:0001513
5 abnormality of retinal pigmentation64 hallmark (90%) HP:0007703
6 cognitive impairment64 hallmark (90%) HP:0100543
7 polycystic ovaries64 typical (50%) HP:0000147
8 nystagmus64 54 typical (50%) Frequent (79-30%) HP:0000639
9 hypertension64 54 typical (50%) Frequent (79-30%) HP:0000822
10 short stature64 54 typical (50%) Frequent (79-30%) HP:0004322
11 hypoplasia of penis64 54 typical (50%) Frequent (79-30%) HP:0008736
12 cryptorchidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000028
13 nephrotic syndrome64 54 occasional (7.5%) Occasional (29-5%) HP:0000100
14 hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000365
15 low-set, posteriorly rotated ears64 54 occasional (7.5%) Occasional (29-5%) HP:0000368
16 prominent nasal bridge64 54 occasional (7.5%) Occasional (29-5%) HP:0000426
17 short neck64 54 occasional (7.5%) Occasional (29-5%) HP:0000470
18 downslanted palpebral fissures64 54 occasional (7.5%) Occasional (29-5%) HP:0000494
19 hypertrichosis64 occasional (7.5%) HP:0000998
20 hepatic failure64 occasional (7.5%) HP:0001399
21 neurological speech impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0002167
22 finger syndactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0006101
23 medial flaring of the eyebrow64 54 occasional (7.5%) Occasional (29-5%) HP:0010747
24 hypogonadism54 Frequent (79-30%)
25 pigmentary retinopathy54 Very frequent (99-80%)
26 intellectual disability54 Very frequent (99-80%)
27 hepatic fibrosis54 Occasional (29-5%)
28 generalized hirsutism54 Occasional (29-5%)
29 skeletal muscle atrophy54 Occasional (29-5%)
30 hypoplasia of the ovary54 Frequent (79-30%)

UMLS symptoms related to Bardet-Biedl Syndrome:


hyperexplexia

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

41 (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

Drugs & Therapeutics for Bardet-Biedl Syndrome

About this section

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

About this section

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 17)

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

Anatomical Context for Bardet-Biedl Syndrome

About this section

MalaCards organs/tissues related to Bardet-Biedl Syndrome:

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

Publications for Bardet-Biedl Syndrome

About this section

Articles related to Bardet-Biedl Syndrome:

(show top 50)    (show all 423)
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
Bardet-Biedl Syndrome. (27385962)
2016
5
Spot Diagnosis of a Daedalian Genetic Disorder: Bardet-Biedl Syndrome. (27437293)
2016
6
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. (27708425)
2016
7
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
8
Anesthetic considerations for patients with Bardet-Biedl syndrome: a case series and review of the literature. (26804322)
2016
9
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
10
Genetics of Human Bardet-Biedl Syndrome, an Updates. (26762677)
2016
11
Bardet-Biedl Syndrome 3 regulates development of cranial base midline structures. (27170093)
2016
12
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). (27008867)
2016
13
Renal transplantation in Bardet-Biedl Syndrome. (27245600)
2016
14
Bardet-biedl syndrome with ostium primum atrial septal defect-A case report. (27727653)
2016
15
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina. (26867008)
2016
16
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. (26854863)
2016
17
Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome. (27442694)
2016
18
Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and AlstrAPm Syndrome provides mechanistic insight into shared and divergent phenotypes. (27142762)
2016
19
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. (26763875)
2016
20
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. (27659767)
2016
21
Bardet Biedl syndrome in South Africa: A single founder mutation. (27245532)
2016
22
Bardet-Biedl Syndrome with End Stage Renal Disease. (27853335)
2016
23
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. (27486776)
2016
24
Bardet-Biedl syndrome in a preterm newborn. (26043513)
2015
25
Bardet-Biedl syndrome: Is it only cilia dysfunction? (26231314)
2015
26
Liver anomalies as a phenotype parameter of Bardet-Biedl syndrome. (26596255)
2015
27
Bardet-Biedl syndrome in two siblings: a rare entity revisited. (26025693)
2015
28
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. (26518167)
2015
29
Bardet-Biedl syndrome: multiple fingers with multiple defects! (26611481)
2015
30
Bardet-Biedl syndrome: A rare cause of end stage renal disease. (25664275)
2015
31
Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome. (26628797)
2015
32
Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9). (26085087)
2015
33
Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome. (25553308)
2015
34
Renal dysplasia in Bardet-Biedl syndrome. (26076793)
2015
35
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. (25982971)
2015
36
A rod-sparing retinopathy in bardet-biedl syndrome. (25759667)
2015
37
Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. (26078953)
2015
38
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families. (26082521)
2015
39
Regulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins. (26103456)
2015
40
Differential effects on I^-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. (26494903)
2015
41
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. (26325687)
2015
42
Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome. (26216965)
2015
43
Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7. (26557828)
2015
44
Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. (25988237)
2015
45
Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome. (26473736)
2015
46
Two brothers with bardet-biedl syndrome presenting with chronic renal failure. (25960897)
2015
47
Value of MRI Olfactory Bulb evaluation in the assessment of olfactory dysfunction in Bardet Biedl syndrome. (26586152)
2015
48
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. (24608809)
2014
49
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. (24488770)
2014
50
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). (24026985)
2014

Variations for Bardet-Biedl Syndrome

About this section

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

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

Pathways for genes affiliated with Bardet-Biedl Syndrome

About this section

GO Terms for genes affiliated with Bardet-Biedl Syndrome

About this section

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1centriolar satelliteGO:003445111.0BBS4, BBS9, CEP290, SDCCAG8
2ciliary transition zoneGO:003586911.0BBS4, BBS9, CEP290, MKS1
3centrioleGO:000581410.9BBS4, CEP290, MKS1, SDCCAG8
4axonemeGO:000593010.9ARL6, BBS1, BBS7, IFT172, WDPCP
5MKS complexGO:003603810.9CEP290, MKS1
6intraciliary transport particle BGO:003099210.9IFT172, IFT27
7pericentriolar materialGO:000024210.8BBS4, BBS9
8ciliary membraneGO:006017010.7ARL6, BBS1, BBS2, BBS4, BBS5, BBS7
9motile ciliumGO:003151410.7BBS2, BBS4, IFT27, MKKS
10BBSomeGO:003446410.7ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
11photoreceptor connecting ciliumGO:003239110.7BBS4, CEP290, TTC8
12sperm midpieceGO:009722510.6IFT172, IFT27
13ciliumGO:000592910.6ARL6, BBIP1, BBS10, BBS12, BBS4, BBS9
14centrosomeGO:000581310.6BBS1, BBS4, BBS7, CEP290, IFT27, MKKS
15ciliary basal bodyGO:003606410.5BBS1, BBS2, BBS4, BBS5, BBS7, CEP290
16sperm principal pieceGO:009722810.3IFT172, IFT27
17cytosolGO:000582910.0ARL6, 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
1adult behaviorGO:003053411.1BBS2, BBS4
2Golgi to plasma membrane protein transportGO:004300111.1BBS1, BBS2
3artery smooth muscle contractionGO:001482411.1BBS2, MKKS
4face developmentGO:006032411.1BBS4, MKKS
5protein localization to organelleGO:003336511.1BBS2, BBS4
6negative regulation of actin filament polymerizationGO:003083711.1BBS4, MKKS
7pigment granule aggregation in cell centerGO:005187711.1BBS7, MKKS
8intraciliary transportGO:004207311.1BBS12, IFT27
9establishment of planar polarityGO:000173611.1TTC8, WDPCP
10brain morphogenesisGO:004885411.1BBS2, BBS4, MKKS
11cerebral cortex developmentGO:002198711.1BBS2, BBS4, MKKS
12chaperone-mediated protein complex assemblyGO:005113111.0BBS10, BBS12, MKKS
13hippocampus developmentGO:002176611.0BBS2, BBS4, MKKS
14leptin-mediated signaling pathwayGO:003321011.0BBS2, BBS4, MKKS
15negative regulation of appetite by leptin-mediated signaling pathwayGO:003810811.0BBS2, BBS4, MKKS
16protein localizationGO:000810411.0BBS2, BBS4, BBS7
17positive regulation of multicellular organism growthGO:004001811.0BBS2, BBS4, MKKS
18negative regulation of GTPase activityGO:003426011.0BBS4, MKKS, TTC8
19regulation of cilium beat frequency involved in ciliary motilityGO:006029611.0BBS2, BBS4, MKKS
20response to leptinGO:004432111.0BBS2, BBS4, MKKS
21neural tube closureGO:000184311.0BBS4, IFT172, MKS1
22palate developmentGO:006002111.0BBS7, IFT172, WDPCP
23intracellular transportGO:004690711.0BBS4, BBS5, BBS7, MKKS
24inner ear receptor stereocilium organizationGO:006012211.0IFT27, MKS1, TTC8
25regulation of stress fiber assemblyGO:005149211.0BBS4, MKKS, TTC8
26protein localization to ciliumGO:006151211.0ARL6, BBS1, BBS4, BBS9
27sensory processingGO:005089311.0BBS4, TTC8
28vasodilationGO:004231110.9BBS2, MKKS
29retina homeostasisGO:000189510.9BBS1, BBS10, BBS4
30regulation of smoothened signaling pathwayGO:000858910.9ARL6, IFT172, MKS1
31striatum developmentGO:002175610.9BBS2, BBS4, MKKS
32heart loopingGO:000194710.9BBS4, BBS5, BBS7, IFT172, MKKS
33response to stimulusGO:005089610.9BBS1, BBS10, BBS5, BBS9
34photoreceptor cell maintenanceGO:004549410.9BBS1, BBS10, BBS12, BBS2, BBS4, MKKS
35determination of left/right symmetryGO:000736810.8ARL6, BBS7, IFT172, MKKS, MKS1
36melanosome transportGO:003240210.8ARL6, BBS2, BBS4, BBS5, BBS7, MKKS
37smoothened signaling pathwayGO:000722410.7BBS7, IFT172, IFT27, WDPCP
38fat cell differentiationGO:004544410.7ARL6, BBS2, BBS4, BBS7, BBS9, MKKS
39protein transportGO:001503110.7BBIP1, BBS4, BBS5, BBS7, BBS9, CEP290
40cilium assemblyGO:006027110.2ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
41visual perceptionGO:00076019.9ARL6, 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:000110310.0BBS1, BBS10, BBS2, BBS4, BBS5, BBS7
2protein bindingGO:00055159.4ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2

Sources for Bardet-Biedl Syndrome

About this section
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