BBS2
MCID: BRD014
MIFTS: 56

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 57 12 53 74 29 6 15 72
Bbs2 57 12 53 74
Bardet-Biedl Syndrome, Type 2 75 40
Bardet-Biedl Syndrome 53 72
Bbs 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
bardet-biedl syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110124
MeSH 44 D020788
ICD10 33 Q87.89
MedGen 42 C2936863
UMLS 72 C0752166 C2936863

Summaries for Bardet-Biedl Syndrome 2

OMIM : 57 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 6 and bardet-biedl syndrome 15. An important gene associated with Bardet-Biedl Syndrome 2 is BBS2 (Bardet-Biedl Syndrome 2), and among its related pathways/superpathways are Statin Pathway and PPAR signaling pathway. The drugs alpha-MSH and Hormones have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and retina, 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 : 74 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 : 75 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 701)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 6 32.9 MKKS BBS2
2 bardet-biedl syndrome 15 32.4 MKKS ICAM1 BBS2
3 body mass index quantitative trait locus 11 30.9 MKKS LPL BBS2 APOC3 APOA1
4 heart disease 30.4 MKKS LPL ICAM1 BBS2 APOC3 APOA1
5 lipid metabolism disorder 30.3 LPL APOC3 APOA1
6 hypertriglyceridemia, familial 30.0 LPL APOC3 APOA1
7 retinitis pigmentosa 74 12.2
8 laurence-moon syndrome 12.1
9 bardet-biedl syndrome 11.9
10 vaginal atresia 11.9
11 biemond syndrome 11.8
12 retinitis pigmentosa 11.8
13 polydactyly 11.8
14 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.7
15 bardet-biedl syndrome 1 11.6
16 bardet-biedl syndrome 3 11.6
17 mckusick-kaufman syndrome 11.5
18 bardet-biedl syndrome 4 11.5
19 bardet-biedl syndrome 5 11.5
20 bardet-biedl syndrome 8 11.5
21 bardet-biedl syndrome 13 11.5
22 bardet-biedl syndrome 14 11.5
23 bardet-biedl syndrome 17 11.5
24 bardet-biedl syndrome 18 11.5
25 bardet-biedl syndrome 19 11.5
26 fundus dystrophy 11.5
27 nonsyndromic retinitis pigmentosa 11.5
28 inherited retinal disorder 11.4
29 nijmegen breakage syndrome 11.3
30 alstrom syndrome 11.2
31 hydrolethalus syndrome 1 11.2
32 myasthenic syndrome, congenital, 6, presynaptic 11.2
33 apperceptive agnosia 11.2
34 associative agnosia 11.2
35 brown-sequard syndrome 11.2
36 hypogonadism 11.2
37 hypogonadotropism 11.2
38 tetralogy of fallot 11.0
39 retinal degeneration 11.0
40 learning disability 10.9
41 end stage renal failure 10.9
42 yemenite deaf-blind hypopigmentation syndrome 10.9
43 kidney disease 10.8
44 chromosome 2q35 duplication syndrome 10.7
45 alacrima, achalasia, and mental retardation syndrome 10.7
46 diabetes mellitus, insulin-dependent 10.7
47 brachydactyly 10.6
48 night blindness 10.6
49 pathologic nystagmus 10.6
50 joubert syndrome 1 10.6

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:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 32 occasional (7.5%) HP:0001631
2 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
3 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
4 global developmental delay 32 very rare (1%) HP:0001263
5 obesity 32 HP:0001513
6 diabetes mellitus 32 HP:0000819
7 intellectual disability 32 HP:0001249
8 hypogonadism 32 HP:0000135
9 rod-cone dystrophy 32 HP:0000510
10 postaxial hand polydactyly 32 HP:0001162
11 postaxial foot polydactyly 32 HP:0001830
12 retinal degeneration 32 HP:0000546
13 external genital hypoplasia 32 HP:0003241

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity

Head And Neck Eyes:
retinal degeneration
retinitis pigmentosa

Skeletal Hands:
polydactyly, postaxial

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

Genitourinary External Genitalia Male:
hypogonadism
hypogenitalism

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

GenomeRNAi Phenotypes related to Bardet-Biedl Syndrome 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.8 APOA1 APOC3 LPL

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 2:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 ALMS1 ASL ASPA BBS2 BRCA1 GLI1
2 behavior/neurological MP:0005386 10.29 ALMS1 ASL ASPA BBS2 BRCA1 GLI1
3 homeostasis/metabolism MP:0005376 10.22 ALMS1 APOA1 ASL ASPA BBS2 BRCA1
4 cardiovascular system MP:0005385 10.15 APOA1 ASL BRCA1 GNE ICAM1 LPL
5 endocrine/exocrine gland MP:0005379 10.11 ALMS1 APOA1 ASL BBS2 BRCA1 GLI1
6 integument MP:0010771 10.11 APOA1 ASL ASPA BBS2 BRCA1 ICAM1
7 mortality/aging MP:0010768 10.1 ASL ASPA BRCA1 GLI1 GNE ICAM1
8 craniofacial MP:0005382 9.95 GLI1 MKKS MYO5A PDGFA PEX2 VDR
9 limbs/digits/tail MP:0005371 9.87 BBS2 BRCA1 GLI1 MKKS MYO5A RPS19
10 muscle MP:0005369 9.85 ASL ASPA BRCA1 GNE ICAM1 LPL
11 nervous system MP:0003631 9.73 ALMS1 ASPA BBS2 BRCA1 GLI1 ICAM1
12 renal/urinary system MP:0005367 9.28 ALMS1 ASL BBS2 BRCA1 GLI1 GNE

Drugs & Therapeutics for Bardet-Biedl Syndrome 2

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

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

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:

41
Kidney, Heart, Retina, Testes

Publications for Bardet-Biedl Syndrome 2

Articles related to Bardet-Biedl Syndrome 2:

(show top 50) (show all 102)
# 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. 38 8 71
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. 38 8 71
16823392 2006
3
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 38 8 71
11567139 2001
4
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 38 8 71
11285252 2001
5
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. 8 71
8298649 1993
6
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. 38 71
25541840 2015
7
Bardet-Biedl Syndrome 38 71
20301537 2003
8
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 38 71
12567324 2003
9
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. 38 8
9039982 1997
10
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 71
22981120 2012
11
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 8
19252258 2009
12
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 71
16582908 2006
13
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. 8
8588586 1995
14
Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients. 8
7802002 1994
15
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. 8
7987310 1994
16
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. 38
31283077 2019
17
Effects of resveratrol on reducing spermatogenic dysfunction caused by high-intensity exercise. 38
31060552 2019
18
Single-particle tracking localization microscopy reveals nonaxonemal dynamics of intraflagellar transport proteins at the base of mammalian primary cilia. 38
30759057 2019
19
[Analysis of 26 fetuses with congenital anomalies of the kidney and urinary tract by whole exome sequencing]. 38
30512163 2018
20
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies. 38
29588463 2018
21
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. 38
29126234 2018
22
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. 38
29590217 2018
23
Genetic architecture and selection of Chinese cattle revealed by whole genome resequencing. 38
29294071 2017
24
Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract. 38
28387813 2017
25
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. 38
28502102 2017
26
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 16. 38
28805616 2017
27
Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts. 38
28717663 2017
28
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. 38
28143435 2017
29
Targeted RP9 ablation and mutagenesis in mouse photoreceptor cells by CRISPR-Cas9. 38
28216641 2017
30
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. 38
28800606 2017
31
A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features. 38
27230627 2016
32
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 38
27486776 2016
33
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. 38
27058611 2016
34
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. 38
26518167 2015
35
Epigenome-wide association study (EWAS) of BMI, BMI change and waist circumference in African American adults identifies multiple replicated loci. 38
25935004 2015
36
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. 38
25552655 2015
37
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. 38
24400638 2015
38
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. 38
26325687 2015
39
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing. 38
25999675 2015
40
Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome. 38
26078953 2015
41
Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. 38
25170860 2014
42
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. 38
24849935 2014
43
Carrier frequency of two BBS2 mutations in the Ashkenazi population. 38
23829372 2014
44
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 38
23432027 2014
45
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. 38
24608809 2014
46
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. 38
25133751 2014
47
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. 38
23572516 2013
48
A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family. 38
23403234 2013
49
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. 38
23142271 2013
50
Paramecium BBS genes are key to presence of channels in Cilia. 38
23351336 2012

Variations for Bardet-Biedl Syndrome 2

ClinVar genetic disease variations for Bardet-Biedl Syndrome 2:

6 (show top 50) (show all 76)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BBS2 NM_031885.4(BBS2): c.940del (p.Ile314fs) deletion Pathogenic rs587777824 16:56536585-56536585 16:56502673-56502673
2 BBS2 NM_031885.4(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 16:56536702-56536702 16:56502790-56502790
3 BBS2 NM_031885.4(BBS2): c.1895G> C (p.Arg632Pro) single nucleotide variant Pathogenic rs138043021 16:56530894-56530894 16:56496982-56496982
4 BBS2 NM_031885.4(BBS2): c.118-1G> C single nucleotide variant Pathogenic rs587777825 16:56548593-56548593 16:56514681-56514681
5 BBS2 NM_031885.4(BBS2): c.416G> T (p.Gly139Val) single nucleotide variant Pathogenic rs121908181 16:56545126-56545126 16:56511214-56511214
6 BBS2 NM_031885.4(BBS2): c.472-2A> G single nucleotide variant Pathogenic rs137854887 16:56544835-56544835 16:56510923-56510923
7 BBS2 BBS2, CYS210FS, TER246 undetermined variant Pathogenic
8 BBS2 NM_031885.4(BBS2): c.263del (p.Gly88fs) deletion Pathogenic rs869025206 16:56548447-56548447 16:56514535-56514535
9 BBS2 NM_031885.4(BBS2): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs121908180 16:56540103-56540103 16:56506191-56506191
10 BBS2 NM_031885.4(BBS2): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs779690256 16:56540049-56540049 16:56506137-56506137
11 BBS2 NM_031885.4(BBS2): c.814C> T (p.Arg272Ter) single nucleotide variant Pathogenic rs764164384 16:56536711-56536711 16:56502799-56502799
12 BBS2 NM_031885.4(BBS2): c.1705C> T (p.Gln569Ter) single nucleotide variant Pathogenic rs1555521501 16:56531747-56531747 16:56497835-56497835
13 BBS2 NM_031885.4(BBS2): c.565C> T (p.Arg189Ter) single nucleotide variant Pathogenic rs1273181642 16:56543916-56543916 16:56510004-56510004
14 BBS2 NM_031885.4(BBS2): c.1438C> T (p.Arg480Ter) single nucleotide variant Pathogenic/Likely pathogenic rs778090540 16:56533779-56533779 16:56499867-56499867
15 BBS2 NM_031885.4(BBS2): c.1814C> G (p.Ser605Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201063733 16:56530975-56530975 16:56497063-56497063
16 BBS2 NM_031885.4(BBS2): c.1780C> T (p.Arg594Ter) single nucleotide variant Pathogenic/Likely pathogenic rs762047808 16:56531672-56531672 16:56497760-56497760
17 BBS2 NM_031885.4(BBS2): c.534+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs773862084 16:56544770-56544770 16:56510858-56510858
18 BBS2 NM_031885.4(BBS2): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201196733 16:56530925-56530925 16:56497013-56497013
19 BBS2 NM_031885.4(BBS2): c.311A> C (p.Asp104Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121908179 16:56548399-56548399 16:56514487-56514487
20 BBS2 NM_031885.4(BBS2): c.661del (p.Leu221fs) deletion Pathogenic/Likely pathogenic rs770258677 16:56540088-56540088 16:56506176-56506176
21 BBS2 NM_031885.4(BBS2): c.72C> G (p.Tyr24Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908175 16:56553703-56553703 16:56519791-56519791
22 BBS2 NM_031885.4(BBS2): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908176 16:56548535-56548535 16:56514623-56514623
23 BBS2 NM_031885.4(BBS2): c.1237C> T (p.Arg413Ter) single nucleotide variant Pathogenic/Likely pathogenic rs147030232 16:56534926-56534926 16:56501014-56501014
24 BBS2 NM_031885.4(BBS2): c.2107C> T (p.Arg703Ter) single nucleotide variant Likely pathogenic rs567573386 16:56518732-56518732 16:56484820-56484820
25 BBS2 NM_031885.4(BBS2): c.627_628del (p.Cys210fs) deletion Likely pathogenic rs773417074 16:56540120-56540122 16:56506209-56506210
26 BBS2 NM_031885.4(BBS2): c.224T> G (p.Val75Gly) single nucleotide variant Likely pathogenic rs121908174 16:56548486-56548486 16:56514574-56514574
27 BBS2 NM_031885.4(BBS2): c.324_343del (p.Asn108fs) deletion Likely pathogenic rs1555523964 16:56548366-56548386 16:56514455-56514474
28 BBS2 NM_031885.4(BBS2): c.1015C> T (p.Arg339Ter) single nucleotide variant Likely pathogenic rs193922710 16:56536294-56536294 16:56502382-56502382
29 BBS2 NM_031885.4(BBS2): c.1770del (p.Phe590fs) deletion Likely pathogenic rs193922711 16:56531682-56531682 16:56497770-56497770
30 BBS2 NM_031885.4(BBS2): c.402del (p.Ala136fs) deletion Likely pathogenic 16:56545140-56545140 16:56511228-56511228
31 BBS2 NM_031885.4(BBS2): c.471+1G> A single nucleotide variant Likely pathogenic rs1555523584 16:56545070-56545070 16:56511158-56511158
32 BBS2 NM_031885.4(BBS2): c.1081-1G> T single nucleotide variant Likely pathogenic rs1555522000 16:56535410-56535410 16:56501498-56501498
33 BBS2 NM_031885.4(BBS2): c.2038C> T (p.Gln680Ter) single nucleotide variant Likely pathogenic rs1555520220 16:56519523-56519523 16:56485611-56485611
34 BBS2 NM_031885.4(BBS2): c.2060-1G> T single nucleotide variant Likely pathogenic rs1555520142 16:56518780-56518780 16:56484868-56484868
35 BBS2 NM_031885.4(BBS2): c.918_919dup (p.Cys307fs) duplication Likely pathogenic rs1555522252 16:56536605-56536605 16:56502694-56502695
36 BBS2 NM_031885.4(BBS2): c.717+1G> A single nucleotide variant Likely pathogenic rs1047075022 16:56540031-56540031 16:56506119-56506119
37 BBS2 NM_031885.4(BBS2): c.940+1del deletion Likely pathogenic rs746171104 16:56536583-56536584 16:56502672-56502672
38 BBS2 NM_031885.4(BBS2): c.941-2A> C single nucleotide variant Likely pathogenic rs878962682 16:56536370-56536370 16:56502458-56502458
39 BBS2 NM_031885.4(BBS2): c.1797+1G> A single nucleotide variant Likely pathogenic rs1555521489 16:56531654-56531654 16:56497742-56497742
40 BBS2 NM_031885.4(BBS2): c.1946_1952del (p.Asp649fs) deletion Likely pathogenic rs745951028 16:56519608-56519615 16:56485697-56485703
41 BBS2 NM_031885.4(BBS2): c.1969G> T (p.Gly657Ter) single nucleotide variant Likely pathogenic rs1166717771 16:56519592-56519592 16:56485680-56485680
42 BBS2 NM_031885.4(BBS2): c.55del (p.Val19fs) deletion Likely pathogenic rs1555524593 16:56553719-56553720 16:56519808-56519808
43 BBS2 NM_031885.4(BBS2): c.717+2T> G single nucleotide variant Likely pathogenic rs1555522893 16:56540030-56540030 16:56506118-56506118
44 BBS2 NM_031885.4(BBS2): c.941-1G> T single nucleotide variant Likely pathogenic rs777234811 16:56536369-56536369 16:56502457-56502457
45 BBS2 NM_031885.4(BBS2): c.1909_1910del (p.Met637fs) deletion Likely pathogenic rs1555521379 16:56530878-56530880 16:56496967-56496968
46 BBS2 NM_031885.4(BBS2): c.1911-1G> A single nucleotide variant Likely pathogenic rs1555520256 16:56519651-56519651 16:56485739-56485739
47 BBS2 NM_031885.4(BBS2): c.563del (p.Ile188fs) deletion Likely pathogenic rs1367927635 16:56543917-56543918 16:56510006-56510006
48 BBS2 NM_031885.4(BBS2): c.534+7G> C single nucleotide variant Conflicting interpretations of pathogenicity rs886052149 16:56544764-56544764 16:56510852-56510852
49 BBS2 NM_031885.4(BBS2): c.118G> T (p.Val40Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs886043059 16:56548592-56548592 16:56514680-56514680
50 BBS2 NM_031885.4(BBS2): c.1910+9T> G single nucleotide variant Conflicting interpretations of pathogenicity rs751604858 16:56530870-56530870 16:56496958-56496958

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

74 (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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.4 LPL APOC3 APOA1
2 10.68 LPL APOC3 APOA1
3
Show member pathways
10.07 ASPA ASL

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 spherical high-density lipoprotein particle GO:0034366 9.26 APOC3 APOA1
2 intermediate-density lipoprotein particle GO:0034363 9.16 APOC3 APOA1
3 very-low-density lipoprotein particle GO:0034361 9.13 LPL APOC3 APOA1
4 chylomicron GO:0042627 8.8 LPL APOC3 APOA1
5 cytoplasm GO:0005737 10.18 VDR RPS19 MYO5A MKKS MID1 GNE
6 cytosol GO:0005829 10.1 RPS19 MYO5A MKKS MID1 GNE GLI1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cholesterol homeostasis GO:0042632 9.72 LPL APOC3 APOA1
2 lipoprotein metabolic process GO:0042157 9.62 APOC3 APOA1
3 cholesterol efflux GO:0033344 9.62 APOC3 APOA1
4 brain morphogenesis GO:0048854 9.61 MKKS BBS2
5 vasodilation GO:0042311 9.61 MKKS BBS2
6 protein localization to organelle GO:0033365 9.6 CNTLN BBS2
7 reverse cholesterol transport GO:0043691 9.59 APOC3 APOA1
8 negative regulation of fatty acid biosynthetic process GO:0045717 9.58 BRCA1 APOC3
9 high-density lipoprotein particle remodeling GO:0034375 9.58 APOC3 APOA1
10 striatum development GO:0021756 9.57 MKKS BBS2
11 regulation of stress fiber assembly GO:0051492 9.56 MKKS ALMS1
12 phospholipid efflux GO:0033700 9.54 APOC3 APOA1
13 response to leptin GO:0044321 9.52 MKKS BBS2
14 chylomicron assembly GO:0034378 9.51 APOC3 APOA1
15 artery smooth muscle contraction GO:0014824 9.49 MKKS BBS2
16 very-low-density lipoprotein particle remodeling GO:0034372 9.48 LPL APOA1
17 leptin-mediated signaling pathway GO:0033210 9.46 MKKS BBS2
18 regulation of Cdc42 protein signal transduction GO:0032489 9.43 APOC3 APOA1
19 triglyceride homeostasis GO:0070328 9.43 LPL APOC3 APOA1
20 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.4 MKKS BBS2
21 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.37 MKKS BBS2
22 triglyceride catabolic process GO:0019433 9.33 LPL APOC3 APOA1
23 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.32 APOC3 APOA1
24 melanosome transport GO:0032402 9.13 MYO5A MKKS BBS2
25 chylomicron remodeling GO:0034371 8.8 LPL APOC3 APOA1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 VDR RPS19 PEX2 PDGFA MYO5A MKKS
2 identical protein binding GO:0042802 9.73 MYO5A MID1 BRCA1 ASPA ASL APOA1
3 lipase inhibitor activity GO:0055102 9.16 APOC3 APOA1
4 high-density lipoprotein particle receptor binding GO:0070653 8.62 APOC3 APOA1

Sources for Bardet-Biedl Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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