BBS3
MCID: BRD015
MIFTS: 43

Bardet-Biedl Syndrome 3 (BBS3)

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 3

MalaCards integrated aliases for Bardet-Biedl Syndrome 3:

Name: Bardet-Biedl Syndrome 3 57 12 53 75 29 6 15 73
Bbs3 57 12 75
Bardet-Biedl Syndrome, Type 3 40
Bardetbiedl Syndrome, Type 3 76

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

32
bardet-biedl syndrome 3:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 3

OMIM : 57 BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise (Young et al., 1998; Ghadami et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (600151)

MalaCards based summary : Bardet-Biedl Syndrome 3, also known as bbs3, is related to bardet-biedl syndrome 11 and bardet-biedl syndrome. An important gene associated with Bardet-Biedl Syndrome 3 is ARL6 (ADP Ribosylation Factor Like GTPase 6), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include kidney, heart and eye, and related phenotypes are obesity and intellectual disability

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the ARL6 gene on chromosome 3q11.

UniProtKB/Swiss-Prot : 75 Bardet-Biedl syndrome 3: 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 : 76 Bardet´┐Ż??Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

Related Diseases for Bardet-Biedl Syndrome 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 11 30.1 BBS5 BBS9
2 bardet-biedl syndrome 28.9 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
3 bardet-biedl syndrome 2 10.2
4 bardet-biedl syndrome 10 10.2
5 bardet-biedl syndrome 12 10.2
6 nonsyndromic retinitis pigmentosa 10.0 BBS1 BBS2
7 retinal degeneration 10.0
8 alstrom syndrome 10.0 BBS1 BBS2
9 bardet-biedl syndrome 15 10.0 BBS2 BBS4
10 hydrolethalus syndrome 1 9.9 BBS2 BBS4
11 bardet-biedl syndrome 4 9.9 BBS1 BBS2 BBS4
12 bardet-biedl syndrome 13 9.9 BBS1 BBS2 BBS4
13 meckel syndrome, type 1 9.9 BBS1 BBS4
14 bardet-biedl syndrome 5 9.8 BBS2 BBS5
15 bardet-biedl syndrome 14 9.8 BBS1 BBS2 BBS9
16 nephronophthisis 15 9.8 BBS5 BBS9
17 tetralogy of fallot 9.8 BBS2 BBS4 BBS7
18 body mass index quantitative trait locus 11 9.7 BBS1 BBS2 BBS4
19 retinitis pigmentosa 9.7 ARL6 BBS1 BBS2 BBS4
20 bardet-biedl syndrome 6 9.7 BBS1 BBS2 BBS4 BBS7
21 mckusick-kaufman syndrome 9.7 BBS1 BBS2 BBS4 BBS7
22 bardet-biedl syndrome 18 9.7 BBS1 BBS2 BBS4 BBS7
23 polydactyly 9.7 BBS1 BBS2 BBS4 BBS7
24 fundus dystrophy 9.6 BBS1 BBS2 BBS4 BBS5
25 bardet-biedl syndrome 17 9.5 BBS1 BBS2 BBS4 BBS7 BBS9
26 bardet-biedl syndrome 8 9.4 BBS1 BBS2 BBS4 BBS5 BBS7
27 bardet-biedl syndrome 1 9.3 ARL6 BBS1 BBS2 BBS4 BBS7 BBS9

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 3:



Diseases related to Bardet-Biedl Syndrome 3

Symptoms & Phenotypes for Bardet-Biedl Syndrome 3

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity

Genitourinary Kidneys:
renal hypoplasia
renal structural anomalies

Skeletal Feet:
polydactyly

Genitourinary External Genitalia Male:
hypogenitalism

Skeletal Hands:
brachydactyly
polydactyly

Head And Neck Eyes:
retinal dystrophy
retinitis pigmentosa

Neurologic Central Nervous System:
mental retardation (in some patients)
delayed development (in some patients)
intellectual disability (in some patients)

Cardiovascular Heart:
tricuspid regurgitation (in some patients)
hypertrophy of the interventricular septum (in some patients)


Clinical features from OMIM:

600151

Human phenotypes related to Bardet-Biedl Syndrome 3:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 intellectual disability 32 occasional (7.5%) HP:0001249
3 global developmental delay 32 occasional (7.5%) HP:0001263
4 brachydactyly 32 HP:0001156
5 renal hypoplasia 32 HP:0000089
6 rod-cone dystrophy 32 HP:0000510
7 tricuspid regurgitation 32 occasional (7.5%) HP:0005180
8 external genital hypoplasia 32 HP:0003241
9 polydactyly 32 HP:0010442

GenomeRNAi Phenotypes related to Bardet-Biedl Syndrome 3 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 9.17 BBS1 BBS4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.17 BBS1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.17 BBS1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.17 BBS1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.17 BBS1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.17 BBS1

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.95 ARL6 BBS1 BBS2 BBS4 BBS5 BBS9
2 behavior/neurological MP:0005386 9.93 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
3 growth/size/body region MP:0005378 9.91 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
4 cardiovascular system MP:0005385 9.83 ARL6 BBS1 BBS4 BBS5 BBS7
5 limbs/digits/tail MP:0005371 9.72 BBS1 BBS2 BBS5 BBS7 BBS9
6 craniofacial MP:0005382 9.71 ARL6 BBS1 BBS4 BBS7
7 renal/urinary system MP:0005367 9.56 BBS1 BBS2 BBS4 BBS7
8 reproductive system MP:0005389 9.55 ARL6 BBS1 BBS2 BBS4 BBS7
9 taste/olfaction MP:0005394 9.26 BBS1 BBS2 BBS4 BBS7
10 vision/eye MP:0005391 9.1 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7

Drugs & Therapeutics for Bardet-Biedl Syndrome 3

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 3

Genetic Tests for Bardet-Biedl Syndrome 3

Genetic tests related to Bardet-Biedl Syndrome 3:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 3 29 ARL6

Anatomical Context for Bardet-Biedl Syndrome 3

MalaCards organs/tissues related to Bardet-Biedl Syndrome 3:

41
Kidney, Heart, Eye

Publications for Bardet-Biedl Syndrome 3

Articles related to Bardet-Biedl Syndrome 3:

# Title Authors Year
1
Bardet-Biedl Syndrome 3 regulates development of cranial base midline structures. ( 27170093 )
2016
2
Crystal structure of the small GTPase Arl6/BBS3 from Trypanosoma brucei. ( 23184293 )
2013

Variations for Bardet-Biedl Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 3:

75
# Symbol AA change Variation ID SNP ID
1 ARL6 p.Thr31Met VAR_027643 rs104893680
2 ARL6 p.Thr31Arg VAR_027644 rs104893680
3 ARL6 p.Gly169Ala VAR_027645 rs104893679
4 ARL6 p.Leu170Trp VAR_027646 rs104893681
5 ARL6 p.Ile94Thr VAR_071405 rs771054395

ClinVar genetic disease variations for Bardet-Biedl Syndrome 3:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 ARL6 NM_032146.5(ARL6): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs104893678 GRCh37 Chromosome 3, 97506848: 97506848
2 ARL6 NM_032146.5(ARL6): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs104893678 GRCh38 Chromosome 3, 97788004: 97788004
3 ARL6 NM_032146.5(ARL6): c.506G> C (p.Gly169Ala) single nucleotide variant Pathogenic,risk factor rs104893679 GRCh37 Chromosome 3, 97510641: 97510641
4 ARL6 NM_032146.5(ARL6): c.506G> C (p.Gly169Ala) single nucleotide variant Pathogenic,risk factor rs104893679 GRCh38 Chromosome 3, 97791797: 97791797
5 ARL6 NM_032146.5(ARL6): c.92C> T (p.Thr31Met) single nucleotide variant Pathogenic rs104893680 GRCh37 Chromosome 3, 97487043: 97487043
6 ARL6 NM_032146.5(ARL6): c.92C> T (p.Thr31Met) single nucleotide variant Pathogenic rs104893680 GRCh38 Chromosome 3, 97768199: 97768199
7 ARL6 NM_032146.5(ARL6): c.509T> G (p.Leu170Trp) single nucleotide variant Pathogenic rs104893681 GRCh37 Chromosome 3, 97510644: 97510644
8 ARL6 NM_032146.5(ARL6): c.509T> G (p.Leu170Trp) single nucleotide variant Pathogenic rs104893681 GRCh38 Chromosome 3, 97791800: 97791800
9 ARL6 NM_032146.5(ARL6): c.92C> G (p.Thr31Arg) single nucleotide variant Pathogenic rs104893680 GRCh37 Chromosome 3, 97487043: 97487043
10 ARL6 NM_032146.5(ARL6): c.92C> G (p.Thr31Arg) single nucleotide variant Pathogenic rs104893680 GRCh38 Chromosome 3, 97768199: 97768199
11 ARL6 NM_032146.5(ARL6): c.480-8C> T single nucleotide variant Benign/Likely benign rs77010939 GRCh37 Chromosome 3, 97510607: 97510607
12 ARL6 NM_032146.5(ARL6): c.480-8C> T single nucleotide variant Benign/Likely benign rs77010939 GRCh38 Chromosome 3, 97791763: 97791763
13 ARL6 NM_032146.5(ARL6): c.351_353delTATinsGAAAA (p.Asp117Glufs) indel Pathogenic rs1057515576 GRCh38 Chromosome 3, 97787991: 97787993
14 ARL6 NM_032146.5(ARL6): c.351_353delTATinsGAAAA (p.Asp117Glufs) indel Pathogenic rs1057515576 GRCh37 Chromosome 3, 97506835: 97506837
15 ARL6 NM_177976.3(ARL6): c.185+1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 97499065: 97499065
16 ARL6 NM_177976.3(ARL6): c.185+1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 97780221: 97780221

Expression for Bardet-Biedl Syndrome 3

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 3.

Pathways for Bardet-Biedl Syndrome 3

Pathways related to Bardet-Biedl Syndrome 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
2
Show member pathways
11.2 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7

GO Terms for Bardet-Biedl Syndrome 3

Cellular components related to Bardet-Biedl Syndrome 3 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.95 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
2 cell projection GO:0042995 9.87 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
3 microtubule organizing center GO:0005815 9.85 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
4 centrosome GO:0005813 9.73 BBS1 BBS4 BBS7
5 axoneme GO:0005930 9.73 ARL6 BBS1 BBS5 BBS7
6 cilium GO:0005929 9.7 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
7 ciliary basal body GO:0036064 9.65 BBS1 BBS2 BBS4 BBS5 BBS7
8 centriolar satellite GO:0034451 9.63 BBS4 BBS5 BBS9
9 photoreceptor outer segment GO:0001750 9.55 BBS4 BBS7
10 ciliary transition zone GO:0035869 9.52 BBS4 BBS9
11 pericentriolar material GO:0000242 9.51 BBS4 BBS9
12 ciliary membrane GO:0060170 9.43 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
13 BBSome GO:0034464 9.1 BBS1 BBS2 BBS4 BBS5 BBS7 BBS9
14 membrane GO:0016020 10.11 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
15 cytoplasm GO:0005737 10.08 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
16 cytosol GO:0005829 10.04 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
17 plasma membrane GO:0005886 10.02 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7

Biological processes related to Bardet-Biedl Syndrome 3 according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.95 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
2 response to stimulus GO:0050896 9.87 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
3 fat cell differentiation GO:0045444 9.77 ARL6 BBS2 BBS4 BBS7 BBS9
4 non-motile cilium assembly GO:1905515 9.76 BBS1 BBS2 BBS4 BBS7
5 protein localization to cilium GO:0061512 9.73 ARL6 BBS1 BBS4 BBS9
6 protein localization GO:0008104 9.7 BBS2 BBS4 BBS7
7 visual perception GO:0007601 9.7 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
8 heart looping GO:0001947 9.67 BBS4 BBS5 BBS7
9 photoreceptor cell maintenance GO:0045494 9.65 BBS1 BBS2 BBS4
10 melanosome transport GO:0032402 9.65 ARL6 BBS2 BBS4 BBS5 BBS7
11 cerebral cortex development GO:0021987 9.63 BBS2 BBS4
12 determination of left/right symmetry GO:0007368 9.62 ARL6 BBS7
13 hippocampus development GO:0021766 9.62 BBS2 BBS4
14 retina homeostasis GO:0001895 9.61 BBS1 BBS4
15 positive regulation of multicellular organism growth GO:0040018 9.61 BBS2 BBS4
16 adult behavior GO:0030534 9.6 BBS2 BBS4
17 Golgi to plasma membrane protein transport GO:0043001 9.59 BBS1 BBS2
18 brain morphogenesis GO:0048854 9.58 BBS2 BBS4
19 protein localization to organelle GO:0033365 9.58 BBS2 BBS4
20 striatum development GO:0021756 9.57 BBS2 BBS4
21 response to leptin GO:0044321 9.56 BBS2 BBS4
22 leptin-mediated signaling pathway GO:0033210 9.55 BBS2 BBS4
23 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.54 BBS2 BBS4
24 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.51 BBS2 BBS4
25 cilium assembly GO:0060271 9.5 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7
26 cell projection organization GO:0030030 9.17 ARL6 BBS1 BBS2 BBS4 BBS5 BBS7

Molecular functions related to Bardet-Biedl Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 9.02 BBS1 BBS2 BBS4 BBS5 BBS7

Sources for Bardet-Biedl Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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