BBS
MCID: BRD002
MIFTS: 67

Bardet-Biedl Syndrome (BBS)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Bardet-Biedl Syndrome

MalaCards integrated aliases for Bardet-Biedl Syndrome:

Name: Bardet-Biedl Syndrome 11 24 19 42 58 75 28 53 5 43 14 38 71
Bbs 19 42 58
Biedl-Bardet Syndrome 19

Characteristics:


Inheritance:

Autosomal recessive,Oligogenic 58

Prevelance:

1-9/100000 (Specific population, United States) 1-9/1000000 (Europe, Tunisia) 58

Age Of Onset:

Antenatal,Childhood,Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare gastroenterological diseases
Rare renal diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:1935
MeSH 43 D020788
NCIt 49 C118632
SNOMED-CT 68 5619004
MESH via Orphanet 44 D020788
ICD10 via Orphanet 32 Q87.8
UMLS via Orphanet 72 C0752166
Orphanet 58 ORPHA110
UMLS 71 C0752166

Summaries for Bardet-Biedl Syndrome

MedlinePlus Genetics: 42 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.Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of vision occurs as the light-sensing tissue at the back of the eye (the retina) gradually deteriorates. Problems with night vision become apparent by mid-childhood, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. Most people with Bardet-Biedl syndrome also develop blurred central vision (poor visual acuity) and become legally blind by adolescence or early adulthood.Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal weight gain typically begins in early childhood and continues to be an issue throughout life. Complications of obesity can include type 2 diabetes, high blood pressure (hypertension), and abnormally high cholesterol levels (hypercholesterolemia).Other major signs and symptoms of Bardet-Biedl syndrome include the presence of extra fingers or toes (polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. Most affected males produce reduced amounts of sex hormones (hypogonadism), and they are usually unable to father biological children (infertile). Many people with Bardet-Biedl syndrome also have kidney abnormalities, which can be serious or life-threatening.Additional features of Bardet-Biedl syndrome can include impaired speech, delayed development of motor skills such as standing and walking, behavioral problems such as emotional immaturity and inappropriate outbursts, and clumsiness or poor coordination. Distinctive facial features, dental abnormalities, unusually short or fused fingers or toes, and a partial or complete loss of the sense of smell (anosmia) have also been reported in some people with Bardet-Biedl syndrome. Additionally, this condition can affect the heart, liver, and digestive system.

MalaCards based summary: Bardet-Biedl Syndrome, also known as bbs, is related to bardet-biedl syndrome 11 and bardet-biedl syndrome 1. An important gene associated with Bardet-Biedl Syndrome is BBS1 (Bardet-Biedl Syndrome 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. The drugs Pharmaceutical Solutions and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and retina, and related phenotypes are intellectual disability and abnormal electroretinogram

GARD: 19 Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome 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. Genetic changes in many genes are known to cause Bardet-Biedl syndrome and inheritance is usually autosomal recessive.

Disease Ontology: 11 A syndrome 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.

Orphanet: 58 A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.

Wikipedia: 75 Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

GeneReviews: NBK1363

Related Diseases for Bardet-Biedl Syndrome

Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 3
Bardet-Biedl Syndrome 6 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 5
Bardet-Biedl Syndrome 7 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 9 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 12
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14
Bardet-Biedl Syndrome 15 Bardet-Biedl Syndrome 16
Bardet-Biedl Syndrome 17 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 19 Bardet-Biedl Syndrome 22
Bardet-Biedl Syndrome 21 Bardet-Biedl Syndrome 20

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

(show top 50) (show all 433)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 11 34.5 WDPCP TTC8 TRIM32 SDCCAG8 MKKS IFT27
2 bardet-biedl syndrome 1 34.5 ZDHHC24 NPHP1 MKKS BBS9 BBS7 BBS5
3 bardet-biedl syndrome 19 34.2 WDPCP TTC8 SDCCAG8 IFT27 BBS9 BBS7
4 bardet-biedl syndrome 18 34.2 WDPCP TTC8 MKKS IFT27 BBS9 BBS7
5 bardet-biedl syndrome 10 34.2 BBS4 BBS12 BBS10 BBS1
6 bardet-biedl syndrome 6 34.0 MKKS IFT27 BBS7 BBS5 BBS4 BBS1
7 bardet-biedl syndrome 17 34.0 IFT27 BBS9 BBS7 BBS2 BBS12 BBS10
8 bardet-biedl syndrome 3 34.0 BBS7 BBS5 BBS10 BBS1 ARL6
9 bardet-biedl syndrome 4 34.0 TTC8 CEP290 BBS7 BBS4
10 bardet-biedl syndrome 14 34.0 CEP290 BBS7 BBS2 BBS12 BBS10 BBS1
11 bardet-biedl syndrome 12 33.9 BBS12 BBS10
12 mckusick-kaufman syndrome 33.7 TTC8 MKKS CEP290 BBS9 BBS7 BBS5
13 bardet-biedl syndrome 13 33.7 MKKS BBS2
14 retinitis pigmentosa 33.7 ZDHHC24 WDPCP TTC8 TRIM32 SDCCAG8 NPHP1
15 bardet-biedl syndrome 15 33.6 WDPCP BBS12
16 polydactyly 33.4 WDPCP TTC8 TRIM32 SDCCAG8 MKKS IFT27
17 laurence-moon syndrome 33.1 TTC8 BBS9 BBS7 BBS5 BBS10 BBS1
18 fundus dystrophy 32.9 ZDHHC24 WDPCP TTC8 TRIM32 SDCCAG8 NPHP1
19 cone dystrophy 32.7 WDPCP TTC8 SDCCAG8 MKKS CEP290 BBS9
20 cone-rod dystrophy 2 32.5 ZDHHC24 WDPCP TTC8 SDCCAG8 NPHP1 MKKS
21 retinal degeneration 32.4 NPHP1 MKKS CEP290 BBS7 BBS4 BBS10
22 chromosome 2q35 duplication syndrome 32.3 TTC8 MKKS BBS9 BBS7 BBS5 BBS4
23 nephronophthisis 32.2 WDPCP TTC8 SDCCAG8 NPHP1 MKKS IFT27
24 meckel syndrome, type 1 32.2 WDPCP TTC8 SDCCAG8 NPHP1 MKKS IFT27
25 joubert syndrome 1 32.1 WDPCP TTC8 SDCCAG8 NPHP1 MKKS IFT27
26 late-onset retinal degeneration 32.0 TTC8 SDCCAG8 CEP290
27 cystic kidney disease 31.9 NPHP1 IFT27 CEP290 BBS7 BBS4 BBS2
28 heart disease 31.8 WDPCP TRIM32 SDCCAG8 MKKS IFT27 CEP290
29 visceral heterotaxy 31.7 SDCCAG8 NPHP1 IFT27 CEP290 BBS9 BBS7
30 situs inversus 31.6 NPHP1 CEP290 BBS5 BBS4 BBS2 BBS1
31 polycystic kidney disease 31.6 NPHP1 MKKS IFT27 CEP290 BBS7 BBS5
32 leber plus disease 31.6 ZDHHC24 TTC8 SDCCAG8 NPHP1 MKKS CEP290
33 primary ciliary dyskinesia 31.5 SDCCAG8 NPHP1 IFT27 CEP290 BBS9 BBS7
34 eye disease 31.4 SDCCAG8 NPHP1 CEP290 BBS9 BBS1 ARL6
35 senior-loken syndrome 1 31.3 SDCCAG8 NPHP1 CEP290 BBS5 BBS4 BBS2
36 autosomal dominant polycystic kidney disease 31.1 NPHP1 IFT27 CEP290 BBS5 BBS4 BBS1
37 usher syndrome 31.1 ZDHHC24 TTC8 CEP290 BBS5 BBS2 BBS12
38 retinitis pigmentosa 74 31.1 TTC8 BBS2
39 orofaciodigital syndrome 30.9 WDPCP CEP290 BBS4
40 juvenile nephronophthisis 30.9 NPHP1 MKKS CEP290
41 nephronophthisis 15 30.8 BBS9 BBS5
42 bardet-biedl syndrome 2 12.1
43 bardet-biedl syndrome 7 12.0
44 bardet-biedl syndrome 9 12.0
45 bardet-biedl syndrome 5 12.0
46 bardet-biedl syndrome 8 12.0
47 bardet-biedl syndrome 22 11.9
48 bardet-biedl syndrome 16 11.9
49 bardet-biedl syndrome 20 11.9
50 bardet-biedl syndrome 21 11.9

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



Diseases related to Bardet-Biedl Syndrome

Symptoms & Phenotypes for Bardet-Biedl Syndrome

Human phenotypes related to Bardet-Biedl Syndrome:

58 30 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 abnormal electroretinogram 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000512
3 obesity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001513
4 multicystic kidney dysplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000003
5 postaxial hand polydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001162
6 pigmentary retinopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000580
7 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000639
8 hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0000822
9 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
10 hypoplasia of penis 58 30 Frequent (33%) Frequent (79-30%)
HP:0008736
11 hypogonadism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000135
12 hypoplasia of the ovary 58 30 Frequent (33%) Frequent (79-30%)
HP:0008724
13 neurological speech impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002167
14 short neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000470
15 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
16 skeletal muscle atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003202
17 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
18 hepatic fibrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001395
19 nephrotic syndrome 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000100
20 downslanted palpebral fissures 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000494
21 low-set, posteriorly rotated ears 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000368
22 generalized hirsutism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002230
23 prominent nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000426
24 finger syndactyly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006101
25 medial flaring of the eyebrow 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010747

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.49 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
2 growth/size/body region MP:0005378 10.41 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
3 homeostasis/metabolism MP:0005376 10.32 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
4 renal/urinary system MP:0005367 10.3 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
5 cellular MP:0005384 10.28 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
6 limbs/digits/tail MP:0005371 10.21 BBS1 BBS2 BBS5 BBS7 BBS9 IFT27
7 craniofacial MP:0005382 10.21 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
8 adipose tissue MP:0005375 10.15 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
9 behavior/neurological MP:0005386 10.1 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
10 cardiovascular system MP:0005385 10.07 ARL6 BBS1 BBS4 BBS5 BBS7 CEP290
11 reproductive system MP:0005389 9.93 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
12 respiratory system MP:0005388 9.91 BBS1 BBS2 BBS4 BBS5 CEP290 IFT27
13 vision/eye MP:0005391 9.86 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
14 taste/olfaction MP:0005394 9.17 BBS1 BBS2 BBS4 BBS7 CEP290 MKKS

Drugs & Therapeutics for Bardet-Biedl Syndrome

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2 alpha-MSH Phase 3 581-05-5
3 Hormones Phase 3
4 Hormone Antagonists Phase 3
5 Anesthetics
6 Insulin, Globin Zinc
7
Insulin

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Trial of Setmelanotide (RM-493), a Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Completed NCT03746522 Phase 3 Setmelanotide;Placebos
2 A Phase 3 Multi-Center, One-Year, Open-Label Study of Setmelanotide in Pediatric Patients Aged 2 to <6 Years of Age With Rare Genetic Causes of Obesity Active, not recruiting NCT04966741 Phase 3 Setmelanotide
3 A Phase 3, Randomized, Double-Blind Trial of Two Formulations of Setmelanotide (Daily and Weekly) With a Crossover to Open-Label Once Weekly Setmelanotide in Patients With Specific Gene Defects in the Melanocortin-4 Receptor Pathway Who Are Currently on a Stable Dose of the Once Daily Formulation Enrolling by invitation NCT05194124 Phase 3 Setmelanotide 20mg weekly;Placebo daily;Setmelanotide 30mg weekly;Setmelanotide 2mg daily;Setmelanotide 3mg daily;Placebo weekly
4 Treatment of Infantile and Juvenile Patients With Bardet-Biedl-Syndrome With Metformin. Evaluation of a Visual Improvement as a Side Effect of the Pediatric Treatment of Adipositas - a Prospective Pilot Study Without Control Withdrawn NCT03490019 Phase 2 Metformin
5 An Expanded Access Protocol for Setmelanotide for Treatment of Bardet-Biedl Syndrome (BBS) Approved for marketing NCT05183802 Setmelanotide, administered subcutaneously [SC], once daily.
6 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
7 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
8 COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique Recruiting NCT04461444
9 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
10 Foundation Fighting Blindness My Retina Tracker Registry Recruiting NCT02435940
11 Classification and Functional Stratification of the Patients With Ciliopathy and Identification of Biomarkers to Improve Their Prognosis Recruiting NCT04874909
12 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
13 Characterizing the Genotype, Phenotype, Health Issues, and Quality of Life in Adults With Bardet-Biedl Syndrome Enrolling by invitation NCT05400278
14 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics Terminated NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome

Cochrane evidence based reviews: bardet-biedl syndrome

Genetic Tests for Bardet-Biedl Syndrome

Genetic tests related to Bardet-Biedl Syndrome:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 28 BBS1 BBS4 MKKS SDCCAG8

Anatomical Context for Bardet-Biedl Syndrome

Organs/tissues related to Bardet-Biedl Syndrome:

MalaCards : Eye, Kidney, Retina, Liver, Heart, Ovary, Skeletal Muscle

Publications for Bardet-Biedl Syndrome

Articles related to Bardet-Biedl Syndrome:

(show top 50) (show all 1328)
# Title Authors PMID Year
1
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. 62 24 5
32361989 2020
2
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study. 62 24 5
31196119 2019
3
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. 62 24 5
30614526 2019
4
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. 62 24 5
30761183 2019
5
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. 62 24 5
29127258 2018
6
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. 62 24 5
27659767 2017
7
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 62 24 5
27486776 2016
8
Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. 62 24 5
25988237 2016
9
Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. 62 24 5
25170860 2014
10
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. 62 24 5
24608809 2014
11
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. 62 24 5
21517826 2011
12
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 62 24 5
21344540 2011
13
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 62 24 5
15314642 2004
14
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. 24 5
28559085 2017
15
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. 24 5
20671153 2010
16
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. 53 62 5
20142850 2010
17
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. 53 62 5
18766993 2008
18
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. 53 62 5
17065520 2006
19
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. 53 62 5
16308660 2006
20
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 53 62 5
12677556 2003
21
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 53 62 5
12567324 2003
22
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 53 62 5
12118255 2002
23
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 53 62 5
11285252 2001
24
Kidney failure in Bardet-Biedl syndrome. 62 5
35112343 2022
25
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10. 62 5
34940782 2021
26
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation. 62 5
33964006 2021
27
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh. 62 5
33594065 2021
28
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. 62 5
33169370 2021
29
A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico. 62 5
34526762 2021
30
Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort. 62 5
33777945 2021
31
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. 62 5
33572860 2021
32
Next-Generation Sequencing in the Diagnosis of Patients with Bardet-Biedl Syndrome-New Variants and Relationship with Hyperglycemia and Insulin Resistance. 62 5
33138063 2020
33
Bardet-Biedl syndrome and related disorders in Japan. 62 5
32451492 2020
34
Deletion in the Bardet-Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs. 62 5
32962042 2020
35
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease. 62 5
31836858 2020
36
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. 62 5
31960602 2020
37
Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome. 62 5
31639430 2020
38
Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant. 62 5
31760295 2019
39
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy. 62 5
30823891 2019
40
A novel compound heterozygous mutation in TTC8 identified in a Japanese patient. 62 5
30886724 2019
41
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. 62 5
29806606 2018
42
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. 62 5
28624958 2017
43
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. 62 5
28753627 2017
44
Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts. 62 5
28717663 2017
45
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. 62 5
28143435 2017
46
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. 62 5
28808579 2017
47
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 62 5
28761321 2017
48
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. 62 5
28800606 2017
49
Characterizing the morbid genome of ciliopathies. 62 5
27894351 2016
50
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. 62 5
27708425 2016

Variations for Bardet-Biedl Syndrome

ClinVar genetic disease variations for Bardet-Biedl Syndrome:

5 (show top 50) (show all 4286)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MKKS NM_170784.3(MKKS):c.431_441del (p.Phe144fs) DEL Pathogenic
21670 rs113994195 GRCh37: 20:10393722-10393732
GRCh38: 20:10413074-10413084
2 MKKS NM_170784.3(MKKS):c.873_876dup (p.Cys293fs) DUP Pathogenic
21672 rs113994196 GRCh37: 20:10393286-10393287
GRCh38: 20:10412638-10412639
3 BBS1 NM_024649.5(BBS1):c.-3_37del (p.Met1fs) DEL Pathogenic
21708 rs113994178 GRCh37: 11:66278117-66278156
GRCh38: 11:66510646-66510685
4 BBS4 NM_033028.5(BBS4):c.406-2A>C SNV Pathogenic
21730 rs113994191 GRCh37: 15:73015133-73015133
GRCh38: 15:72722792-72722792
5 BBS4 NM_033028.5(BBS4):c.77-216del DEL Pathogenic
9146 rs113994189 GRCh37: 15:73001821-73001821
GRCh38: 15:72709480-72709480
6 ARL6 NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) SNV Pathogenic
68064 rs137854907 GRCh37: 3:97503816-97503816
GRCh38: 3:97784972-97784972
7 BBS12 NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) SNV Pathogenic
68065 rs151344630 GRCh37: 4:123663370-123663370
GRCh38: 4:122742215-122742215
8 BBS7 NM_176824.3(BBS7):c.1986_1988delinsT (p.Lys662fs) INDEL Pathogenic
216137 rs863224529 GRCh37: 4:122749327-122749329
GRCh38: 4:121828172-121828174
9 BBS9 NM_198428.3(BBS9):c.956del (p.Thr319fs) DEL Pathogenic
266086 rs886039799 GRCh37: 7:33313508-33313508
GRCh38: 7:33273896-33273896
10 BBS4 NM_033028.5(BBS4):c.172C>T (p.Gln58Ter) SNV Pathogenic
266089 rs886039802 GRCh37: 15:73004600-73004600
GRCh38: 15:72712259-72712259
11 BBS2 NC_000016.9:g.(56519651_56530879)_(56536720_56539861)del DEL Pathogenic
266085 GRCh37: 16:56519651-56539861
GRCh38: 16:56485739-56505949
12 BBS4 NM_033028.5(BBS4):c.1226del (p.Ser409fs) DEL Pathogenic
266087 rs886039800 GRCh37: 15:73028285-73028285
GRCh38: 15:72735944-72735944
13 BBS9 NM_198428.3(BBS9):c.223C>T (p.Arg75Ter) SNV Pathogenic
266106 rs775081992 GRCh37: 7:33192423-33192423
GRCh38: 7:33152811-33152811
14 BBS4 NM_033028.4:r.118_261del DEL Pathogenic
266081 GRCh37:
GRCh38:
15 BBS9 NM_198428.3(BBS9):c.2115+1G>A SNV Pathogenic
266088 rs886039801 GRCh37: 7:33427757-33427757
GRCh38: 7:33388145-33388145
16 BBS7 NM_176824.3(BBS7):c.632C>T (p.Thr211Ile) SNV Pathogenic
3016 rs119466002 GRCh37: 4:122775945-122775945
GRCh38: 4:121854790-121854790
17 NPHP1 GRCh37/hg19 2q13(chr2:110875689-110967529) CN LOSS Pathogenic
431747 GRCh37: 2:110875689-110967529
GRCh38:
18 ASTN2, TRIM32 NC_000009.12:g.(?_116697723)_(116699724_?)del DEL Pathogenic
462941 GRCh37: 9:119460002-119462003
GRCh38: 9:116697723-116699724
19 BBS2 NC_000016.9:g.(?_56518653)_(56545216_?)del DEL Pathogenic
462944 GRCh37: 16:56518653-56545216
GRCh38:
20 CEP19 NM_032898.5(CEP19):c.182dup (p.Tyr61Ter) DUP Pathogenic
430642 rs1553794304 GRCh37: 3:196434731-196434732
GRCh38: 3:196707860-196707861
21 BBS10 NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) DEL Pathogenic
496471 rs1555202584 GRCh37: 12:76740088-76740088
GRCh38: 12:76346308-76346308
22 BBS12 NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) SNV Pathogenic
531820 rs1269565757 GRCh37: 4:123664422-123664422
GRCh38: 4:122743267-122743267
23 BBS7 NM_176824.3(BBS7):c.1413T>A (p.Tyr471Ter) SNV Pathogenic
531822 rs991365297 GRCh37: 4:122756397-122756397
GRCh38: 4:121835242-121835242
24 BBS7 NM_176824.3(BBS7):c.542_543insAA (p.Met181fs) INSERT Pathogenic
531829 rs1553933472 GRCh37: 4:122776702-122776703
GRCh38: 4:121855547-121855548
25 BBS1 NM_024649.5(BBS1):c.595_598del (p.Val199fs) DEL Pathogenic
531836 rs1555047409 GRCh37: 11:66287089-66287092
GRCh38: 11:66519618-66519621
26 BBS7 NM_176824.3(BBS7):c.1062_1063del (p.Tyr354_Lys355delinsTer) MICROSAT Pathogenic
285609 rs773139166 GRCh37: 4:122766826-122766827
GRCh38: 4:121845671-121845672
27 WDPCP NC_000002.12:g.(?_63378386)_(63404657_?)del DEL Pathogenic
583791 GRCh37: 2:63605521-63631792
GRCh38: 2:63378386-63404657
28 MKKS NC_000020.11:g.(?_10405227)_(10413534_?)del DEL Pathogenic
584330 GRCh37: 20:10385875-10394182
GRCh38: 20:10405227-10413534
29 BBS7 NM_176824.3(BBS7):c.763A>T (p.Lys255Ter) SNV Pathogenic
625451 rs1560658189 GRCh37: 4:122774197-122774197
GRCh38: 4:121853042-121853042
30 BBS5 NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) SNV Pathogenic
6161 rs121908581 GRCh37: 2:170344321-170344321
GRCh38: 2:169487811-169487811
31 MKKS NM_170784.3(MKKS):c.172_175dup (p.Gln59fs) DUP Pathogenic
642430 rs1600849412 GRCh37: 20:10393987-10393988
GRCh38: 20:10413339-10413340
32 BBS12 NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) INSERT Pathogenic
557758 rs770872200 GRCh37: 4:123663729-123663730
GRCh38: 4:122742574-122742575
33 BBS12 NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) DEL Pathogenic
558010 rs1553941369 GRCh37: 4:123664055-123664056
GRCh38: 4:122742900-122742901
34 BBS12 NM_152618.3(BBS12):c.1267del (p.Ile423fs) DEL Pathogenic
657227 rs1578491135 GRCh37: 4:123664313-123664313
GRCh38: 4:122743158-122743158
35 ARL6 NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) SNV Pathogenic
2040 rs104893678 GRCh37: 3:97506848-97506848
GRCh38: 3:97788004-97788004
36 BBS4 NC_000015.10:g.72708224_72722485del DEL Pathogenic
812225 GRCh37: 15:73000565-73014826
GRCh38:
37 BBS4 NM_033028.5(BBS4):c.884G>C (p.Arg295Pro) SNV Pathogenic
9145 rs121434632 GRCh37: 15:73023915-73023915
GRCh38: 15:72731574-72731574
38 BBS7 NM_176824.3(BBS7):c.87_88del (p.His29fs) MICROSAT Pathogenic
804446 rs1578577361 GRCh37: 4:122789150-122789151
GRCh38: 4:121867995-121867996
39 BBS9 NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter) SNV Pathogenic
2660 rs137852858 GRCh37: 7:33376099-33376099
GRCh38: 7:33336487-33336487
40 BBS10 NC_000012.12:g.(?_76345803)_(76348368_?)del DEL Pathogenic
830774 GRCh37: 12:76739583-76742148
GRCh38:
41 BBS12 NC_000004.12:g.(?_122741883)_(122744035_?)del DEL Pathogenic
830786 GRCh37: 4:123663038-123665190
GRCh38:
42 ASTN2, TRIM32 NC_000009.12:g.(?_116697733)_(116699714_?)del DEL Pathogenic
831287 GRCh37: 9:119460012-119461993
GRCh38:
43 ASTN2 and overlap with 1 gene(s) NC_000009.12:g.(?_116697743)_(116820783_?)del DEL Pathogenic
831676 GRCh37: 9:119460022-119583062
GRCh38:
44 BBS5 NC_000002.12:g.(?_169492874)_(169493836_?)del DEL Pathogenic
832168 GRCh37: 2:170349384-170350346
GRCh38:
45 BBS1 NC_000011.10:g.(?_66510650)_(66524211_?)del DEL Pathogenic
832534 GRCh37: 11:66278121-66291682
GRCh38:
46 BBS1 NC_000011.10:g.(?_66523446)_(66524211_?)del DEL Pathogenic
833034 GRCh37: 11:66290917-66291682
GRCh38:
47 BBS1 NC_000011.10:g.(?_66510640)_(66523902_?)del DEL Pathogenic
833066 GRCh37: 11:66278111-66291373
GRCh38:
48 ASTN2, TRIM32 NC_000009.12:g.(?_116697743)_(116699704_?)del DEL Pathogenic
833078 GRCh37: 9:119460022-119461983
GRCh38:
49 BBS12 NM_152618.3(BBS12):c.1151del (p.Ser384fs) DEL Pathogenic
550386 rs1553941404 GRCh37: 4:123664198-123664198
GRCh38: 4:122743043-122743043
50 ASTN2, TRIM32 NM_012210.4(TRIM32):c.678C>A (p.Tyr226Ter) SNV Pathogenic
851055 rs398124253 GRCh37: 9:119460699-119460699
GRCh38: 9:116698420-116698420

Expression for Bardet-Biedl Syndrome

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

Pathways for Bardet-Biedl Syndrome

GO Terms for Bardet-Biedl Syndrome

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.63 WDPCP TTC8 TRIM32 SDCCAG8 NPHP1 MKKS
2 centrosome GO:0005813 10.41 BBS1 BBS4 BBS7 CEP19 CEP290 IFT27
3 cytoskeleton GO:0005856 10.28 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
4 motile cilium GO:0031514 10.26 NPHP1 MKKS IFT27 BBS4 BBS2 BBS1
5 ciliary basal body GO:0036064 10.25 BBS2 BBS4 BBS5 BBS7 CEP19 CEP290
6 axoneme GO:0005930 10.21 WDPCP BBS7 BBS5 BBS1 ARL6
7 centriolar satellite GO:0034451 10.21 SDCCAG8 CEP290 BBS9 BBS5 BBS4 BBS1
8 centriole GO:0005814 10.14 BBS4 CEP19 CEP290 SDCCAG8
9 ciliary membrane GO:0060170 10.13 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
10 photoreceptor connecting cilium GO:0032391 10.1 BBS4 CEP290 NPHP1 TTC8
11 microtubule organizing center GO:0005815 10.07 TTC8 SDCCAG8 MKKS CEP290 BBS9 BBS7
12 cell projection GO:0042995 10.06 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
13 cilium GO:0005929 10.05 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
14 ciliary transition zone GO:0035869 10 CEP290 BBS9 BBS4
15 BBSome GO:0034464 9.47 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.36 ARL6 ASTN2 BBS1 BBS2 BBS4 BBS5
2 visual perception GO:0007601 10.32 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
3 neuron migration GO:0001764 10.24 SDCCAG8 BBS4 BBS1 ASTN2
4 response to stimulus GO:0050896 10.23 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
5 cerebral cortex development GO:0021987 10.21 BBS1 BBS2 BBS4 MKKS
6 photoreceptor cell maintenance GO:0045494 10.21 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
7 hippocampus development GO:0021766 10.19 MKKS BBS4 BBS2 BBS1
8 heart looping GO:0001947 10.18 MKKS BBS7 BBS5 BBS4
9 intracellular transport GO:0046907 10.17 MKKS BBS7 BBS5 BBS4
10 non-motile cilium assembly GO:1905515 10.16 TTC8 MKKS CEP290 BBS7 BBS4 BBS2
11 determination of left/right symmetry GO:0007368 10.14 MKKS BBS7 ARL6
12 protein localization to cilium GO:0061512 10.14 BBS9 BBS4 BBS1 ARL6
13 cartilage development GO:0051216 10.13 MKKS BBS2 BBS1
14 brain morphogenesis GO:0048854 10.13 MKKS BBS4 BBS2 BBS1
15 protein localization GO:0008104 10.12 BBS7 BBS4 BBS2 BBS1
16 negative regulation of GTPase activity GO:0034260 10.11 BBS4 MKKS TTC8
17 intraciliary transport GO:0042073 10.11 WDPCP IFT27 BBS12
18 fat cell differentiation GO:0045444 10.11 BBS1 BBS12 BBS2 BBS4 BBS7 BBS9
19 positive regulation of multicellular organism growth GO:0040018 10.1 MKKS BBS4 BBS2
20 adult behavior GO:0030534 10.1 BBS4 BBS2 BBS1
21 striatum development GO:0021756 10.1 MKKS BBS4 BBS2 BBS1
22 melanosome transport GO:0032402 10.1 ARL6 BBS2 BBS4 BBS5 BBS7 MKKS
23 chaperone-mediated protein complex assembly GO:0051131 10.09 MKKS BBS12 BBS10
24 regulation of cilium beat frequency involved in ciliary motility GO:0060296 10.08 BBS1 BBS2 BBS4 MKKS
25 regulation of stress fiber assembly GO:0051492 10.06 TTC8 MKKS BBS4
26 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.99 MKKS BBS4 BBS2
27 microtubule anchoring at centrosome GO:0034454 9.96 CEP19 BBS4
28 artery smooth muscle contraction GO:0014824 9.95 MKKS BBS2
29 sensory processing GO:0050893 9.92 TTC8 BBS4
30 pigment granule aggregation in cell center GO:0051877 9.9 MKKS BBS7
31 cell projection organization GO:0030030 9.83 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
32 cilium assembly GO:0060271 9.74 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
33 leptin-mediated signaling pathway GO:0033210 9.73 BBS2 BBS4 MKKS
34 response to leptin GO:0044321 9.72 MKKS BBS4 BBS2

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II-specific DNA-binding transcription factor binding GO:0061629 9.53 TTC8 MKKS BBS7 BBS5 BBS4 BBS2

Sources for Bardet-Biedl Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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