BBS2
MCID: BRD014
MIFTS: 60

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 58 12 54 76 30 13 6 15 74
Bbs2 58 12 54 76
Bardet-Biedl Syndrome, Type 2 77 41
Bardet-Biedl Syndrome 54 74
Bbs 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
bardet-biedl syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 2

OMIM : 58 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 Hormone Antagonists and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and prostate, 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 : 76 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 : 77 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 335)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 6 32.5 BBS2 MKKS
2 bardet-biedl syndrome 15 31.7 BBS2 ICAM1 MKKS
3 body mass index quantitative trait locus 11 31.1 APOA1 APOC3 BBS2 LPL MKKS
4 heart disease 30.9 APOA1 APOC3 BBS2 ICAM1 LPL MKKS
5 hypertriglyceridemia, familial 29.4 APOA1 APOC3 LPL
6 bardet-biedl syndrome 16 12.9
7 bardet-biedl syndrome 20 12.9
8 bardet-biedl syndrome 21 12.9
9 retinitis pigmentosa 74 12.1
10 laurence-moon syndrome 11.9
11 bardet-biedl syndrome 11.8
12 vaginal atresia 11.7
13 retinitis pigmentosa 11.6
14 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.5
15 bardet-biedl syndrome 1 11.5
16 bardet-biedl syndrome 4 11.4
17 nonsyndromic retinitis pigmentosa 11.4
18 biemond syndrome 11.4
19 polydactyly 11.3
20 bardet-biedl syndrome 3 11.2
21 nijmegen breakage syndrome 11.1
22 alstrom syndrome 11.1
23 hydrolethalus syndrome 1 11.1
24 mckusick-kaufman syndrome 11.1
25 myasthenic syndrome, congenital, 6, presynaptic 11.1
26 bardet-biedl syndrome 5 11.1
27 bardet-biedl syndrome 8 11.1
28 bardet-biedl syndrome 13 11.1
29 bardet-biedl syndrome 14 11.1
30 bardet-biedl syndrome 17 11.1
31 bardet-biedl syndrome 18 11.1
32 bardet-biedl syndrome 19 11.1
33 apperceptive agnosia 11.1
34 associative agnosia 11.1
35 brown-sequard syndrome 11.1
36 tetralogy of fallot 10.9
37 fundus dystrophy 10.9
38 situs inversus 10.5
39 diabetes mellitus 10.5
40 end stage renal failure 10.5
41 kidney disease 10.5
42 retinal degeneration 10.5
43 bardet-biedl syndrome 10 10.4
44 bardet-biedl syndrome 11 10.4
45 bardet-biedl syndrome 12 10.4
46 hirschsprung disease 1 10.3
47 polydactyly, postaxial, type a1 10.3
48 cone-rod dystrophy 16 10.3
49 chronic kidney failure 10.3
50 pathologic nystagmus 10.3

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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 atrial septal defect 33 occasional (7.5%) HP:0001631
2 bicuspid aortic valve 33 occasional (7.5%) HP:0001647
3 dilated cardiomyopathy 33 occasional (7.5%) HP:0001644
4 global developmental delay 33 very rare (1%) HP:0001263
5 obesity 33 HP:0001513
6 diabetes mellitus 33 HP:0000819
7 intellectual disability 33 HP:0001249
8 hypogonadism 33 HP:0000135
9 rod-cone dystrophy 33 HP:0000510
10 postaxial hand polydactyly 33 HP:0001162
11 postaxial foot polydactyly 33 HP:0001830
12 retinal degeneration 33 HP:0000546
13 external genital hypoplasia 33 HP:0003241

Symptoms via clinical synopsis from OMIM:

58
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:

27
# 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:

47 (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 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 3,Phase 2
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
3 Hormones Phase 3,Phase 2
4 alpha-MSH Phase 3,Phase 2 581-05-5
5 Liver Extracts
6 Insulin, Globin Zinc
7 insulin

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493), 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
2 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
3 Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement Withdrawn NCT03490019 Phase 2 Metformin
4 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
5 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
6 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
7 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
8 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
9 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
10 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
11 Genetics and Clinical Characteristics of Bardet-Biedl Syndrome 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 30 BBS2

Anatomical Context for Bardet-Biedl Syndrome 2

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

42
Kidney, Heart, Prostate, Liver, Brain, Bone, Pituitary

Publications for Bardet-Biedl Syndrome 2

Articles related to Bardet-Biedl Syndrome 2:

(show top 50) (show all 498)
# Title Authors Year
1
Acute myocardial infarction and haemodynamic stroke in a young patient with Bardet-Biedl syndrome. ( 31040148 )
2019
2
Characterization of Bardet-Biedl syndrome by postmortem microfocus computed tomography (micro-CT). ( 30079607 )
2019
3
Anesthetic Management of a Pediatric Patient With Bardet-Biedl Syndrome: A Case Report. ( 30234512 )
2019
4
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. ( 30293640 )
2019
5
Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation. ( 30446775 )
2019
6
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. ( 30484961 )
2019
7
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. ( 30614526 )
2019
8
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. ( 30723319 )
2019
9
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. ( 30761183 )
2019
10
Cutaneous findings in Bardet-Biedl syndrome. ( 30790276 )
2019
11
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. ( 30793792 )
2019
12
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome. ( 30839500 )
2019
13
Novel splicing variant c. 208+2T>C in  BBS5  segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. ( 30850397 )
2019
14
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. ( 30901771 )
2019
15
Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. ( 30902542 )
2019
16
Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report. ( 31022684 )
2019
17
Rarity of Laurence Moon Bardet Biedl Syndrome and its Poor Management in the Pakistani Population. ( 31058008 )
2019
18
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. ( 29126234 )
2018
19
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. ( 29127258 )
2018
20
Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes. ( 29232001 )
2018
21
The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export. ( 29339469 )
2018
22
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion. ( 29367880 )
2018
23
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population. ( 29409041 )
2018
24
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. ( 29445114 )
2018
25
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes. ( 29482283 )
2018
26
Managing Bardet-Biedl Syndrome-Now and in the Future. ( 29487844 )
2018
27
Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome. ( 29539623 )
2018
28
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. ( 29633607 )
2018
29
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. ( 29666954 )
2018
30
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. ( 29806606 )
2018
31
Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome. ( 29854508 )
2018
32
Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (Bbs1M390R/M390R): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation. ( 29971011 )
2018
33
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing. ( 30073714 )
2018
34
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. ( 30142598 )
2018
35
Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. ( 30312873 )
2018
36
A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome ( 30335236 )
2018
37
Ciliopathy: Bardet-Biedl Syndrome. ( 30578506 )
2018
38
[Bardet-Biedl syndrome and Kidney failure: a case report]. ( 29390243 )
2018
39
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome. ( 27879052 )
2017
40
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. ( 28143435 )
2017
41
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. ( 28237838 )
2017
42
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. ( 28352024 )
2017
43
Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing. ( 28396767 )
2017
44
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ( 28502102 )
2017
45
Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms. ( 28511423 )
2017
46
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336 )
2017
47
Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. ( 28566787 )
2017
48
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. ( 28624958 )
2017
49
Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease. ( 28662344 )
2017
50
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. ( 28761321 )
2017

Variations for Bardet-Biedl Syndrome 2

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

76 (show all 17)
# Symbol AA change Variation ID SNP ID
1 BBS2 p.Asn70Ser VAR_013162 rs4784677
2 BBS2 p.Val75Gly VAR_013163
3 BBS2 p.Asp104Ala VAR_013164
4 BBS2 p.Arg315Gln VAR_013166
5 BBS2 p.Arg315Trp VAR_013167
6 BBS2 p.Thr558Ile VAR_013168
7 BBS2 p.Arg632Pro VAR_013169
8 BBS2 p.Arg23Pro VAR_038889
9 BBS2 p.Asp174Glu VAR_038890
10 BBS2 p.Leu349Trp VAR_038891
11 BBS2 p.Arg643His VAR_038892
12 BBS2 p.Gly81Cys VAR_066280
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

ClinVar genetic disease variations for Bardet-Biedl Syndrome 2:

6 (show top 50) (show all 149)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS2 NM_031885.3(BBS2): c.940delA (p.Ile314Serfs) deletion Pathogenic rs587777824 GRCh38 Chromosome 16, 56502673: 56502673
2 BBS2 NM_031885.3(BBS2): c.940delA (p.Ile314Serfs) deletion Pathogenic rs587777824 GRCh37 Chromosome 16, 56536585: 56536585
3 BBS2 NM_031885.3(BBS2): c.224T> G (p.Val75Gly) single nucleotide variant Likely pathogenic rs121908174 GRCh37 Chromosome 16, 56548486: 56548486
4 BBS2 NM_031885.3(BBS2): c.224T> G (p.Val75Gly) single nucleotide variant Likely pathogenic rs121908174 GRCh38 Chromosome 16, 56514574: 56514574
5 BBS2 NM_031885.3(BBS2): c.72C> G (p.Tyr24Ter) single nucleotide variant Pathogenic rs121908175 GRCh37 Chromosome 16, 56553703: 56553703
6 BBS2 NM_031885.3(BBS2): c.72C> G (p.Tyr24Ter) single nucleotide variant Pathogenic rs121908175 GRCh38 Chromosome 16, 56519791: 56519791
7 BBS2 NM_031885.3(BBS2): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908176 GRCh37 Chromosome 16, 56548535: 56548535
8 BBS2 NM_031885.3(BBS2): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908176 GRCh38 Chromosome 16, 56514623: 56514623
9 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh37 Chromosome 16, 56536702: 56536702
10 BBS2 NM_031885.3(BBS2): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs121908177 GRCh38 Chromosome 16, 56502790: 56502790
11 BBS2 NM_031885.3(BBS2): c.943C> T (p.Arg315Trp) single nucleotide variant Uncertain significance rs121908178 GRCh37 Chromosome 16, 56536366: 56536366
12 BBS2 NM_031885.3(BBS2): c.943C> T (p.Arg315Trp) single nucleotide variant Uncertain significance rs121908178 GRCh38 Chromosome 16, 56502454: 56502454
13 BBS2 BBS2, CYS210FS, TER246 undetermined variant Pathogenic
14 BBS2 NM_031885.3(BBS2): c.311A> C (p.Asp104Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121908179 GRCh37 Chromosome 16, 56548399: 56548399
15 BBS2 NM_031885.3(BBS2): c.311A> C (p.Asp104Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121908179 GRCh38 Chromosome 16, 56514487: 56514487
16 BBS2 NM_031885.3(BBS2): c.1895G> C (p.Arg632Pro) single nucleotide variant Pathogenic rs138043021 GRCh38 Chromosome 16, 56496982: 56496982
17 BBS2 NM_031885.3(BBS2): c.1895G> C (p.Arg632Pro) single nucleotide variant Pathogenic rs138043021 GRCh37 Chromosome 16, 56530894: 56530894
18 BBS2 NM_031885.3(BBS2): c.118-1G> C single nucleotide variant Pathogenic rs587777825 GRCh38 Chromosome 16, 56514681: 56514681
19 BBS2 NM_031885.3(BBS2): c.118-1G> C single nucleotide variant Pathogenic rs587777825 GRCh37 Chromosome 16, 56548593: 56548593
20 BBS2 NM_031885.3(BBS2): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs121908180 GRCh37 Chromosome 16, 56540103: 56540103
21 BBS2 NM_031885.3(BBS2): c.646C> T (p.Arg216Ter) single nucleotide variant Pathogenic rs121908180 GRCh38 Chromosome 16, 56506191: 56506191
22 BBS2 NM_031885.3(BBS2): c.416G> T (p.Gly139Val) single nucleotide variant Pathogenic rs121908181 GRCh37 Chromosome 16, 56545126: 56545126
23 BBS2 NM_031885.3(BBS2): c.416G> T (p.Gly139Val) single nucleotide variant Pathogenic rs121908181 GRCh38 Chromosome 16, 56511214: 56511214
24 BBS2 NM_031885.3(BBS2): c.472-2A> G single nucleotide variant Pathogenic rs137854887 GRCh37 Chromosome 16, 56544835: 56544835
25 BBS2 NM_031885.3(BBS2): c.472-2A> G single nucleotide variant Pathogenic rs137854887 GRCh38 Chromosome 16, 56510923: 56510923
26 BBS2 NM_031885.3(BBS2): c.1015C> T (p.Arg339Ter) single nucleotide variant Likely pathogenic rs193922710 GRCh37 Chromosome 16, 56536294: 56536294
27 BBS2 NM_031885.3(BBS2): c.1015C> T (p.Arg339Ter) single nucleotide variant Likely pathogenic rs193922710 GRCh38 Chromosome 16, 56502382: 56502382
28 BBS2 NM_031885.3(BBS2): c.1770delT (p.Phe590Leufs) deletion Likely pathogenic rs193922711 GRCh37 Chromosome 16, 56531682: 56531682
29 BBS2 NM_031885.3(BBS2): c.1770delT (p.Phe590Leufs) deletion Likely pathogenic rs193922711 GRCh38 Chromosome 16, 56497770: 56497770
30 BBS2 NM_031885.3(BBS2): c.1099dupC (p.Leu367Profs) duplication Pathogenic rs797044632 GRCh37 Chromosome 16, 56535391: 56535391
31 BBS2 NM_031885.3(BBS2): c.1099dupC (p.Leu367Profs) duplication Pathogenic rs797044632 GRCh38 Chromosome 16, 56501479: 56501479
32 BBS2 NM_031885.3(BBS2): c.661delC (p.Leu221Phefs) deletion Pathogenic/Likely pathogenic rs770258677 GRCh37 Chromosome 16, 56540088: 56540088
33 BBS2 NM_031885.3(BBS2): c.661delC (p.Leu221Phefs) deletion Pathogenic/Likely pathogenic rs770258677 GRCh38 Chromosome 16, 56506176: 56506176
34 BBS2 NM_031885.3(BBS2): c.98C> A (p.Ala33Asp) single nucleotide variant Uncertain significance rs797045155 GRCh38 Chromosome 16, 56519765: 56519765
35 BBS2 NM_031885.3(BBS2): c.98C> A (p.Ala33Asp) single nucleotide variant Uncertain significance rs797045155 GRCh37 Chromosome 16, 56553677: 56553677
36 BBS2 NM_031885.3(BBS2): c.401C> G (p.Pro134Arg) single nucleotide variant Uncertain significance rs376306240 GRCh37 Chromosome 16, 56545141: 56545141
37 BBS2 NM_031885.3(BBS2): c.401C> G (p.Pro134Arg) single nucleotide variant Uncertain significance rs376306240 GRCh38 Chromosome 16, 56511229: 56511229
38 BBS2 NM_031885.3(BBS2): c.1523A> C (p.Gln508Pro) single nucleotide variant Uncertain significance rs115328064 GRCh37 Chromosome 16, 56533694: 56533694
39 BBS2 NM_031885.3(BBS2): c.1523A> C (p.Gln508Pro) single nucleotide variant Uncertain significance rs115328064 GRCh38 Chromosome 16, 56499782: 56499782
40 BBS2 NM_031885.3(BBS2): c.263delG (p.Gly88Alafs) deletion Pathogenic rs869025206 GRCh38 Chromosome 16, 56514535: 56514535
41 BBS2 NM_031885.3(BBS2): c.263delG (p.Gly88Alafs) deletion Pathogenic rs869025206 GRCh37 Chromosome 16, 56548447: 56548447
42 BBS2 NM_031885.3(BBS2): c.367A> G (p.Ile123Val) single nucleotide variant Benign rs11373 GRCh37 Chromosome 16, 56545175: 56545175
43 BBS2 NM_031885.3(BBS2): c.367A> G (p.Ile123Val) single nucleotide variant Benign rs11373 GRCh38 Chromosome 16, 56511263: 56511263
44 BBS2 NM_031885.3(BBS2): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201196733 GRCh37 Chromosome 16, 56530925: 56530925
45 BBS2 NM_031885.3(BBS2): c.1864C> T (p.Arg622Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201196733 GRCh38 Chromosome 16, 56497013: 56497013
46 BBS2 NM_031885.3(BBS2): c.118G> T (p.Val40Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs886043059 GRCh37 Chromosome 16, 56548592: 56548592
47 BBS2 NM_031885.3(BBS2): c.118G> T (p.Val40Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs886043059 GRCh38 Chromosome 16, 56514680: 56514680
48 BBS2 NM_031885.3(BBS2): c.1662C> G (p.Ile554Met) single nucleotide variant Uncertain significance rs774112668 GRCh38 Chromosome 16, 56497878: 56497878
49 BBS2 NM_031885.3(BBS2): c.1662C> G (p.Ile554Met) single nucleotide variant Uncertain significance rs774112668 GRCh37 Chromosome 16, 56531790: 56531790
50 BBS2 NM_031885.3(BBS2): c.1207C> T (p.Arg403Cys) single nucleotide variant Uncertain significance rs766873519 GRCh38 Chromosome 16, 56501371: 56501371

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 APOA1 APOC3 LPL
2 10.67 APOA1 APOC3 LPL
3
Show member pathways
10.07 ASL ASPA

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 APOA1 APOC3
2 intermediate-density lipoprotein particle GO:0034363 9.16 APOA1 APOC3
3 very-low-density lipoprotein particle GO:0034361 9.13 APOA1 APOC3 LPL
4 chylomicron GO:0042627 8.8 APOA1 APOC3 LPL
5 cytoplasm GO:0005737 10.18 ALMS1 ASL ASPA BBS2 BRCA1 CNTLN
6 cytosol GO:0005829 10.1 ALMS1 APOA1 ASL ASPA BBS2 CNTLN

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

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 ALMS1 APOA1 ASL ASPA BBS2 BRCA1
2 identical protein binding GO:0042802 9.73 APOA1 ASL ASPA BRCA1 MID1 MYO5A
3 lipase inhibitor activity GO:0055102 9.16 APOA1 APOC3
4 high-density lipoprotein particle receptor binding GO:0070653 8.62 APOA1 APOC3

Sources for Bardet-Biedl Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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