BBS2
MCID: BRD014
MIFTS: 51

Bardet-Biedl Syndrome 2 (BBS2)

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

Aliases & Classifications for Bardet-Biedl Syndrome 2

MalaCards integrated aliases for Bardet-Biedl Syndrome 2:

Name: Bardet-Biedl Syndrome 2 56 12 52 73 29 6 15 71
Bbs2 56 12 52 73
Bardet-Biedl Syndrome, Type 2 74 39
Bardet-Biedl Syndrome 52 71
Bbs 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
bardet-biedl syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110124
OMIM 56 615981
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
MedGen 41 C2936863
UMLS 71 C0752166 C2936863

Summaries for Bardet-Biedl Syndrome 2

OMIM : 56 BBS2 is an autosomal recessive ciliopathy characterized by retinal degeneration, polydactyly, renal disease, hypogonadism, obesity, dysmorphic features, and variable degrees of cognitive impairment (Innes et al., 2010). Mutation in the BBS2 gene is the third most frequent cause of BBS, accounting for approximately 8% of cases (Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615981)

MalaCards based summary : Bardet-Biedl Syndrome 2, also known as bbs2, is related to bardet-biedl syndrome 1 and mckusick-kaufman syndrome. An important gene associated with Bardet-Biedl Syndrome 2 is BBS2 (Bardet-Biedl Syndrome 2). The drugs Hormone Antagonists and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and liver, and related phenotypes are atrial septal defect and bicuspid aortic valve

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13.

UniProtKB/Swiss-Prot : 73 Bardet-Biedl syndrome 2: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

Wikipedia : 74 Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

Related Diseases for Bardet-Biedl Syndrome 2

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 20
Bardet-Biedl Syndrome 21

Diseases related to Bardet-Biedl Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 681)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 1 32.5 MKKS BBS2
2 mckusick-kaufman syndrome 32.3 MKKS BBS2
3 bardet-biedl syndrome 11 32.3 MKKS BBS2
4 bardet-biedl syndrome 8 32.2 MKKS BBS2
5 bardet-biedl syndrome 6 32.2 MKKS BBS2
6 bardet-biedl syndrome 14 31.9 MKKS BBS2
7 bardet-biedl syndrome 3 31.9 MKKS BBS2
8 laurence-moon syndrome 31.8 MKKS BBS2
9 alstrom syndrome 31.5 MKKS BBS2
10 fundus dystrophy 31.1 MKKS CEP78 BBS2 ABHD12
11 retinitis pigmentosa 74 12.1
12 vaginal atresia 11.9
13 bardet-biedl syndrome 11.9
14 retinitis pigmentosa 11.8
15 polydactyly 11.7
16 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.7
17 bardet-biedl syndrome 10 11.4
18 bardet-biedl syndrome 17 11.4
19 bardet-biedl syndrome 18 11.4
20 nephronophthisis 11.4
21 nonsyndromic retinitis pigmentosa 11.4
22 inherited retinal disorder 11.4
23 heart disease 11.3
24 nijmegen breakage syndrome 11.3
25 hypogonadism 11.2
26 hypogonadotropism 11.2
27 tetralogy of fallot 11.2
28 joubert syndrome 1 11.2
29 meckel syndrome, type 1 11.2
30 body mass index quantitative trait locus 11 11.2
31 retinal disease 11.2
32 coloboma of macula 11.0
33 chromosome 2q35 duplication syndrome 11.0
34 acrocallosal syndrome 11.0
35 cranioectodermal dysplasia 1 11.0
36 polycystic kidney disease 4 with or without polycystic liver disease 11.0
37 senior-loken syndrome 1 11.0
38 joubert syndrome 4 11.0
39 kartagener syndrome 11.0
40 visceral heterotaxy 11.0
41 apperceptive agnosia 11.0
42 physical disorder 11.0
43 leber congenital amaurosis 11.0
44 cystic kidney disease 11.0
45 primary ciliary dyskinesia 11.0
46 retinal degeneration 11.0
47 learning disability 10.9
48 end stage renal failure 10.9
49 yemenite deaf-blind hypopigmentation syndrome 10.9
50 kidney disease 10.8

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 2:



Diseases related to Bardet-Biedl Syndrome 2

Symptoms & Phenotypes for Bardet-Biedl Syndrome 2

Human phenotypes related to Bardet-Biedl Syndrome 2:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 31 occasional (7.5%) HP:0001631
2 bicuspid aortic valve 31 occasional (7.5%) HP:0001647
3 dilated cardiomyopathy 31 occasional (7.5%) HP:0001644
4 global developmental delay 31 very rare (1%) HP:0001263
5 obesity 31 HP:0001513
6 intellectual disability 31 HP:0001249
7 diabetes mellitus 31 HP:0000819
8 retinal degeneration 31 HP:0000546
9 rod-cone dystrophy 31 HP:0000510
10 hypogonadism 31 HP:0000135
11 external genital hypoplasia 31 HP:0003241
12 postaxial hand polydactyly 31 HP:0001162
13 postaxial foot polydactyly 31 HP:0001830

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism
hypogenitalism

Skeletal Hands:
polydactyly, postaxial

Cardiovascular Heart:
atrial septal defect (in some patients)
dilated cardiomyopathy (in some patients)
bicuspid aortic valve (in some patients)

Head And Neck Eyes:
retinal degeneration
retinitis pigmentosa

Neurologic Central Nervous System:
developmental delay
mental retardation

Skeletal Feet:
polydactyly, postaxial

Genitourinary Kidneys:
renal hypodysplasia (in some patients)
kidney malrotation

Clinical features from OMIM:

615981

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 ABHD12 ASL BBS2 MID1 MKKS MYO5A
2 nervous system MP:0003631 9.23 ABHD12 BBS2 MID1 MKKS MYO5A PCGF1

Drugs & Therapeutics for Bardet-Biedl Syndrome 2

Drugs for Bardet-Biedl Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 2, Phase 3
2 alpha-MSH Phase 2, Phase 3 581-05-5
3 Hormones Phase 2, Phase 3
4 Insulin, Globin Zinc
5 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
2 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 Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
3 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
4 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
5 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
6 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
7 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
8 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing Recruiting NCT02510989
9 Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC)) Recruiting NCT01401998
10 Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics Terminated NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome 2

Genetic Tests for Bardet-Biedl Syndrome 2

Genetic tests related to Bardet-Biedl Syndrome 2:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 2 29 BBS2

Anatomical Context for Bardet-Biedl Syndrome 2

MalaCards organs/tissues related to Bardet-Biedl Syndrome 2:

40
Kidney, Heart, Liver, Prostate, Bone, Brain, Lung

Publications for Bardet-Biedl Syndrome 2

Articles related to Bardet-Biedl Syndrome 2:

(show top 50) (show all 108)
# Title Authors PMID Year
1
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders. 61 56 6
20618352 2010
2
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. 61 56 6
16823392 2006
3
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 61 56 6
11567139 2001
4
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 61 56 6
11285252 2001
5
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. 56 6
8298649 1993
6
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. 61 6
25541840 2015
7
Bardet-Biedl Syndrome 61 6
20301537 2003
8
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 61 6
12567324 2003
9
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. 61 56
9039982 1997
10
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012
11
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 56
19252258 2009
12
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 6
16582908 2006
13
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. 56
8588586 1995
14
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. 56
7987310 1994
15
Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. 56
7802002 1994
16
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa. 61
31960602 2020
17
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4. 61
31877759 2019
18
An Open-Label, Single-Arm, Two-Stage, Multicenter, Phase II Study to Evaluate the Efficacy of TLC388 and Genomic Analysis for Poorly Differentiated Neuroendocrine Carcinomas. 61
31852810 2019
19
Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex. 61
31530639 2019
20
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. 61
31283077 2019
21
Requirement of IFT-B-BBSome complex interaction in export of GPR161 from cilia. 61
31471295 2019
22
Effects of resveratrol on reducing spermatogenic dysfunction caused by high-intensity exercise. 61
31060552 2019
23
Single-particle tracking localization microscopy reveals nonaxonemal dynamics of intraflagellar transport proteins at the base of mammalian primary cilia. 61
30759057 2019
24
Renal features of Bardet Biedl syndrome: A single center experience. 61
31951329 2019
25
[Analysis of 26 fetuses with congenital anomalies of the kidney and urinary tract by whole exome sequencing]. 61
30512163 2018
26
Genetic Architecture and Selection of Chinese Cattle Revealed by Whole Genome Resequencing. 61
29294071 2018
27
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. 61
29588463 2018
28
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. 61
29590217 2018
29
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. 61
29126234 2018
30
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. 61
28502102 2017
31
Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract. 61
28387813 2017
32
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 16. 61
28805616 2017
33
Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts. 61
28717663 2017
34
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. 61
28143435 2017
35
Targeted RP9 ablation and mutagenesis in mouse photoreceptor cells by CRISPR-Cas9. 61
28216641 2017
36
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. 61
28800606 2017
37
A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features. 61
27230627 2016
38
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 61
27486776 2016
39
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. 61
27058611 2016
40
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. 61
26518167 2015
41
Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci. 61
25935004 2015
42
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. 61
25552655 2015
43
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. 61
24400638 2015
44
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing. 61
25999675 2015
45
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. 61
26325687 2015
46
Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. 61
26078953 2015
47
Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. 61
25170860 2014
48
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. 61
24849935 2014
49
Carrier frequency of two BBS2 mutations in the Ashkenazi population. 61
23829372 2014
50
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 61
23432027 2014

Variations for Bardet-Biedl Syndrome 2

ClinVar genetic disease variations for Bardet-Biedl Syndrome 2:

6 (show top 50) (show all 78) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBS2 NM_031885.4(BBS2):c.263del (p.Gly88fs)deletion Pathogenic 217434 rs869025206 16:56548447-56548447 16:56514535-56514535
2 BBS2 NM_031885.4(BBS2):c.940del (p.Ile314fs)deletion Pathogenic 4568 rs587777824 16:56536585-56536585 16:56502673-56502673
3 BBS2 NM_031885.4(BBS2):c.175C>T (p.Gln59Ter)SNV Pathogenic 4571 rs121908176 16:56548535-56548535 16:56514623-56514623
4 BBS2 NM_031885.4(BBS2):c.823C>T (p.Arg275Ter)SNV Pathogenic 4572 rs121908177 16:56536702-56536702 16:56502790-56502790
5 BBS2 NM_031885.4(BBS2):c.1895G>C (p.Arg632Pro)SNV Pathogenic 4578 rs138043021 16:56530894-56530894 16:56496982-56496982
6 BBS2 NM_031885.4(BBS2):c.118-1G>CSNV Pathogenic 4579 rs587777825 16:56548593-56548593 16:56514681-56514681
7 BBS2 NM_031885.4(BBS2):c.646C>T (p.Arg216Ter)SNV Pathogenic 4583 rs121908180 16:56540103-56540103 16:56506191-56506191
8 BBS2 NM_031885.4(BBS2):c.416G>T (p.Gly139Val)SNV Pathogenic 4584 rs121908181 16:56545126-56545126 16:56511214-56511214
9 BBS2 NM_031885.4(BBS2):c.472-2A>GSNV Pathogenic 30550 rs137854887 16:56544835-56544835 16:56510923-56510923
10 BBS2 BBS2, CYS210FS, TER246undetermined variant Pathogenic 4575
11 BBS2 NM_031885.4(BBS2):c.565C>T (p.Arg189Ter)SNV Pathogenic 550801 rs1273181642 16:56543916-56543916 16:56510004-56510004
12 BBS2 NM_031885.4(BBS2):c.1705C>T (p.Gln569Ter)SNV Pathogenic 551008 rs1555521501 16:56531747-56531747 16:56497835-56497835
13 BBS2 NM_031885.4(BBS2):c.814C>T (p.Arg272Ter)SNV Pathogenic 552219 rs764164384 16:56536711-56536711 16:56502799-56502799
14 BBS2 NM_031885.4(BBS2):c.700C>T (p.Arg234Ter)SNV Pathogenic 554001 rs779690256 16:56540049-56540049 16:56506137-56506137
15 BBS2 NM_031885.4(BBS2):c.1546C>T (p.Gln516Ter)SNV Pathogenic 803258 16:56532462-56532462 16:56498550-56498550
16 BBS2 NM_031885.4(BBS2):c.1438C>T (p.Arg480Ter)SNV Pathogenic/Likely pathogenic 553353 rs778090540 16:56533779-56533779 16:56499867-56499867
17 BBS2 NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter)SNV Pathogenic/Likely pathogenic 4570 rs121908175 16:56553703-56553703 16:56519791-56519791
18 BBS2 NM_031885.4(BBS2):c.1780C>T (p.Arg594Ter)SNV Pathogenic/Likely pathogenic 550489 rs762047808 16:56531672-56531672 16:56497760-56497760
19 BBS2 NM_031885.4(BBS2):c.1814C>G (p.Ser605Ter)SNV Pathogenic/Likely pathogenic 553335 rs201063733 16:56530975-56530975 16:56497063-56497063
20 BBS2 NM_031885.4(BBS2):c.534+1G>TSNV Pathogenic/Likely pathogenic 553927 rs773862084 16:56544770-56544770 16:56510858-56510858
21 BBS2 NM_031885.4(BBS2):c.311A>C (p.Asp104Ala)SNV Pathogenic/Likely pathogenic 4577 rs121908179 16:56548399-56548399 16:56514487-56514487
22 BBS2 NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter)SNV Pathogenic/Likely pathogenic 284737 rs201196733 16:56530925-56530925 16:56497013-56497013
23 BBS2 NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter)SNV Pathogenic/Likely pathogenic 370943 rs147030232 16:56534926-56534926 16:56501014-56501014
24 BBS2 NM_031885.4(BBS2):c.661del (p.Leu221fs)deletion Pathogenic/Likely pathogenic 208564 rs770258677 16:56540088-56540088 16:56506176-56506176
25 BBS2 NM_031885.4(BBS2):c.224T>G (p.Val75Gly)SNV Likely pathogenic 4569 rs121908174 16:56548486-56548486 16:56514574-56514574
26 BBS2 NM_031885.4(BBS2):c.1015C>T (p.Arg339Ter)SNV Likely pathogenic 35754 rs193922710 16:56536294-56536294 16:56502382-56502382
27 BBS2 NM_031885.4(BBS2):c.1770del (p.Phe590fs)deletion Likely pathogenic 35755 rs193922711 16:56531682-56531682 16:56497770-56497770
28 BBS2 NM_031885.4(BBS2):c.2107C>T (p.Arg703Ter)SNV Likely pathogenic 496478 rs567573386 16:56518732-56518732 16:56484820-56484820
29 BBS2 NM_031885.4(BBS2):c.1911-1G>ASNV Likely pathogenic 557254 rs1555520256 16:56519651-56519651 16:56485739-56485739
30 BBS2 NM_031885.4(BBS2):c.1909_1910del (p.Met637fs)deletion Likely pathogenic 552850 rs1555521379 16:56530879-56530880 16:56496967-56496968
31 BBS2 NM_031885.4(BBS2):c.941-1G>TSNV Likely pathogenic 556737 rs777234811 16:56536369-56536369 16:56502457-56502457
32 BBS2 NM_031885.4(BBS2):c.717+2T>GSNV Likely pathogenic 552231 rs1555522893 16:56540030-56540030 16:56506118-56506118
33 BBS2 NM_031885.4(BBS2):c.118G>T (p.Val40Phe)SNV Likely pathogenic 285263 rs886043059 16:56548592-56548592 16:56514680-56514680
34 BBS2 NM_031885.4(BBS2):c.2060-1G>TSNV Likely pathogenic 555474 rs1555520142 16:56518780-56518780 16:56484868-56484868
35 BBS2 NM_031885.4(BBS2):c.2038C>T (p.Gln680Ter)SNV Likely pathogenic 558537 rs1555520220 16:56519523-56519523 16:56485611-56485611
36 BBS2 NM_031885.4(BBS2):c.563del (p.Ile188fs)deletion Likely pathogenic 552531 rs1367927635 16:56543918-56543918 16:56510006-56510006
37 BBS2 NM_031885.4(BBS2):c.55del (p.Val19fs)deletion Likely pathogenic 551880 rs1555524593 16:56553720-56553720 16:56519808-56519808
38 BBS2 NM_031885.4(BBS2):c.1969G>T (p.Gly657Ter)SNV Likely pathogenic 554529 rs1166717771 16:56519592-56519592 16:56485680-56485680
39 BBS2 NM_031885.4(BBS2):c.1946_1952del (p.Asp649fs)deletion Likely pathogenic 554565 rs745951028 16:56519609-56519615 16:56485697-56485703
40 BBS2 NM_031885.4(BBS2):c.1081-1G>TSNV Likely pathogenic 557062 rs1555522000 16:56535410-56535410 16:56501498-56501498
41 BBS2 NM_031885.4(BBS2):c.918_919dup (p.Cys307fs)duplication Likely pathogenic 556778 rs1555522252 16:56536605-56536606 16:56502693-56502694
42 BBS2 NM_031885.4(BBS2):c.324_343del (p.Asn108fs)deletion Likely pathogenic 557300 rs1555523964 16:56548367-56548386 16:56514455-56514474
43 BBS2 NM_031885.4(BBS2):c.627_628del (p.Cys210fs)deletion Likely pathogenic 557486 rs773417074 16:56540121-56540122 16:56506209-56506210
44 BBS2 NM_031885.4(BBS2):c.1797+1G>ASNV Likely pathogenic 550906 rs1555521489 16:56531654-56531654 16:56497742-56497742
45 BBS2 NM_031885.4(BBS2):c.941-2A>CSNV Likely pathogenic 558443 rs878962682 16:56536370-56536370 16:56502458-56502458
46 BBS2 NM_031885.4(BBS2):c.940+1deldeletion Likely pathogenic 557954 rs746171104 16:56536584-56536584 16:56502672-56502672
47 BBS2 NM_031885.4(BBS2):c.717+1G>ASNV Likely pathogenic 553071 rs1047075022 16:56540031-56540031 16:56506119-56506119
48 BBS2 NM_031885.4(BBS2):c.471+1G>ASNV Likely pathogenic 552136 rs1555523584 16:56545070-56545070 16:56511158-56511158
49 BBS2 NM_031885.4(BBS2):c.402del (p.Ala136fs)deletion Likely pathogenic 633078 rs1368647604 16:56545140-56545140 16:56511228-56511228
50 BBS2 NM_031885.4(BBS2):c.1910+9T>GSNV Conflicting interpretations of pathogenicity 319850 rs751604858 16:56530870-56530870 16:56496958-56496958

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 2:

73 (show all 17)
# Symbol AA change Variation ID SNP ID
1 BBS2 p.Asn70Ser VAR_013162 rs4784677
2 BBS2 p.Val75Gly VAR_013163 rs121908174
3 BBS2 p.Asp104Ala VAR_013164 rs121908179
4 BBS2 p.Arg315Gln VAR_013166 rs544773389
5 BBS2 p.Arg315Trp VAR_013167 rs121908178
6 BBS2 p.Thr558Ile VAR_013168 rs370581600
7 BBS2 p.Arg632Pro VAR_013169 rs138043021
8 BBS2 p.Arg23Pro VAR_038889
9 BBS2 p.Asp174Glu VAR_038890 rs767373822
10 BBS2 p.Leu349Trp VAR_038891 rs752280639
11 BBS2 p.Arg643His VAR_038892 rs532361142
12 BBS2 p.Gly81Cys VAR_066280 rs750506474
13 BBS2 p.Leu125Arg VAR_066281
14 BBS2 p.Ala136Pro VAR_066282
15 BBS2 p.Cys307Trp VAR_066283
16 BBS2 p.Tyr317Cys VAR_066284
17 BBS2 p.Gly139Val VAR_075728 rs121908181

Expression for Bardet-Biedl Syndrome 2

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 2.

Pathways for Bardet-Biedl Syndrome 2

GO Terms for Bardet-Biedl Syndrome 2

Cellular components related to Bardet-Biedl Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 8.8 MKKS CEP78 BBS2

Biological processes related to Bardet-Biedl Syndrome 2 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.65 MYO5A MKKS BBS2
2 cartilage development GO:0051216 9.57 MKKS BBS2
3 cerebral cortex development GO:0021987 9.56 MKKS BBS2
4 fat cell differentiation GO:0045444 9.55 MKKS BBS2
5 hippocampus development GO:0021766 9.54 MKKS BBS2
6 non-motile cilium assembly GO:1905515 9.52 MKKS BBS2
7 photoreceptor cell maintenance GO:0045494 9.51 MKKS BBS2
8 positive regulation of multicellular organism growth GO:0040018 9.49 MKKS BBS2
9 brain morphogenesis GO:0048854 9.46 MKKS BBS2
10 vasodilation GO:0042311 9.43 MKKS BBS2
11 striatum development GO:0021756 9.4 MKKS BBS2
12 response to leptin GO:0044321 9.37 MKKS BBS2
13 leptin-mediated signaling pathway GO:0033210 9.32 MKKS BBS2
14 artery smooth muscle contraction GO:0014824 9.26 MKKS BBS2
15 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.16 MKKS BBS2
16 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 8.96 MKKS BBS2
17 melanosome transport GO:0032402 8.8 MYO5A MKKS BBS2

Molecular functions related to Bardet-Biedl Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 8.62 MKKS BBS2

Sources for Bardet-Biedl Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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