BBS3
MCID: BRD015
MIFTS: 47

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 56 12 52 73 29 6 15 71
Bbs3 56 12 73
Bardet-Biedl Syndrome, Type 3 74 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

31
bardet-biedl syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0110125
OMIM 56 600151
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
MedGen 41 C1859564
UMLS 71 C1859564

Summaries for Bardet-Biedl Syndrome 3

OMIM : 56 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 2 and bardet-biedl syndrome 4. 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 retina, and related phenotypes are intellectual disability and global developmental delay

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

UniProtKB/Swiss-Prot : 73 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 : 74 Bardet-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 top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 2 30.5 MKKS BBS2
2 bardet-biedl syndrome 4 29.8 CEP290 BBS4
3 retinal degeneration 29.6 MKKS CEP290 BBS7 BBS4 BBS10 BBS1
4 bardet-biedl syndrome 1 28.7 MKKS LZTFL1 BBS9 BBS7 BBS4 BBS2
5 polydactyly 28.6 TTC8 MKS1 MKKS LZTFL1 BBS7 BBS4
6 bardet-biedl syndrome 25.0 TTC8 TRIM32 RAB3IP MKS1 MKKS LZTFL1
7 retinitis pigmentosa 24.5 TTC8 TRIM32 RAB3IP MKS1 MKKS LZTFL1
8 obsolete: postaxial polydactyly of fingers 10.4 BBS10 BBIP1
9 nonsyndromic retinitis pigmentosa 10.3 TTC8 BBS2 BBS1
10 simpson-golabi-behmel syndrome, type 2 10.2 CEP290 BBS4
11 polydactyly, postaxial, type a1 10.2
12 yemenite deaf-blind hypopigmentation syndrome 10.2
13 night blindness 10.2
14 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.2
15 polykaryocytosis inducer 10.2
16 autosomal recessive disease 10.2
17 hydrocephalus 10.2
18 male infertility 10.2
19 ciliopathy 10.2
20 retinitis pigmentosa 55 10.1
21 leptin deficiency or dysfunction 10.1
22 neuroretinitis 10.1
23 retinitis 10.1
24 learning disability 10.1
25 laurence-moon syndrome 10.1 MKKS BBS5 BBS2 ARL6
26 encephalocele 10.1 MKS1 CEP290
27 joubert syndrome 6 10.1 MKS1 CEP290
28 joubert syndrome 7 10.0 MKS1 CEP290
29 chromosome 2q35 duplication syndrome 10.0 MKKS BBS2 BBS10 BBS1
30 leber congenital amaurosis 6 10.0 MKS1 CEP290
31 nephronophthisis 11 10.0 MKS1 CEP290
32 meckel syndrome, type 4 10.0 MKS1 CEP290
33 joubert syndrome 5 10.0 MKS1 CEP290
34 night blindness, congenital stationary, autosomal dominant 3 10.0 BBS9 BBS5 BBS4 BBS12 BBS10
35 inherited retinal disorder 10.0 CEP290 BBS2 BBS10 BBS1
36 joubert syndrome 2 10.0 MKS1 CEP290
37 joubert syndrome 4 10.0 MKS1 CEP290 BBS2
38 orofaciodigital syndrome 9.9 MKS1 CEP290 BBS4
39 nephronophthisis 7 9.9 MKS1 CEP290
40 pathologic nystagmus 9.9 MKS1 CEP290 BBS1
41 meckel syndrome, type 2 9.9 MKS1 CEP290
42 meckel syndrome, type 6 9.9 MKS1 CEP290
43 orofaciodigital syndrome i 9.9 RAB3IP CEP290
44 tetralogy of fallot 9.9 MKKS BBS7 BBS4 BBS2 BBS1
45 short-rib thoracic dysplasia 3 with or without polydactyly 9.9 MKKS IFT27 BBS10 BBIP1
46 bardet-biedl syndrome 10 9.8 BBS7 BBS4 BBS2 BBS12 BBS10 BBS1
47 polycystic kidney disease 4 with or without polycystic liver disease 9.8 MKS1 CEP290 BBS4 BBS2
48 mckusick-kaufman syndrome 9.7 MKKS BBS7 BBS4 BBS2 BBS12 BBS1
49 meckel syndrome, type 5 9.7 MKS1 CEP290 ARL13A
50 orofaciodigital syndrome vi 9.7 MKS1 CEP290 ARL13A

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

Human phenotypes related to Bardet-Biedl Syndrome 3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 occasional (7.5%) HP:0001249
2 global developmental delay 31 occasional (7.5%) HP:0001263
3 tricuspid regurgitation 31 occasional (7.5%) HP:0005180
4 obesity 31 HP:0001513
5 brachydactyly 31 HP:0001156
6 rod-cone dystrophy 31 HP:0000510
7 renal hypoplasia 31 HP:0000089
8 polydactyly 31 HP:0010442
9 external genital hypoplasia 31 HP:0003241

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 3:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 ARL3 ARL6 BBIP1 BBS1 BBS10 BBS12
2 behavior/neurological MP:0005386 10.3 ARL6 BBIP1 BBS1 BBS10 BBS12 BBS2
3 nervous system MP:0003631 10.3 ARL3 ARL6 BBIP1 BBS1 BBS10 BBS12
4 cellular MP:0005384 10.27 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
5 homeostasis/metabolism MP:0005376 10.25 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
6 adipose tissue MP:0005375 10.19 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
7 cardiovascular system MP:0005385 10.16 ARL6 BBS1 BBS4 BBS5 BBS7 CEP290
8 craniofacial MP:0005382 10.13 ARL6 BBS1 BBS4 BBS7 CEP290 IFT27
9 renal/urinary system MP:0005367 10.02 ARL3 BBS1 BBS10 BBS12 BBS2 BBS4
10 limbs/digits/tail MP:0005371 10.01 BBS1 BBS2 BBS5 BBS7 BBS9 IFT27
11 reproductive system MP:0005389 9.96 ARL6 BBIP1 BBS1 BBS2 BBS4 BBS7
12 respiratory system MP:0005388 9.7 BBS1 BBS4 CEP290 IFT27 MKKS MKS1
13 vision/eye MP:0005391 9.53 ARL3 ARL6 BBIP1 BBS1 BBS10 BBS12
14 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 BBS7 CEP290 MKKS

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:

40
Kidney, Heart, Retina

Publications for Bardet-Biedl Syndrome 3

Articles related to Bardet-Biedl Syndrome 3:

(show all 49)
# Title Authors PMID Year
1
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 6 56 61
15258860 2004
2
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. 61 6 56
9714014 1998
3
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 6 56
15314642 2004
4
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. 56 6
7987310 1994
5
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. 56 6
8298649 1993
6
Bardet-Biedl Syndrome 6 61
20301537 2003
7
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. 56 61
11179009 2001
8
Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization. 61 56
11050632 2000
9
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6
12567324 2003
10
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. 56
8588586 1995
11
The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach. 61
31303482 2019
12
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. 61
29806606 2018
13
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. 61
29590217 2018
14
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. 61
28502102 2017
15
Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures. 61
27170093 2017
16
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 61
27486776 2016
17
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. 61
24400638 2015
18
The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3. 61
25443296 2014
19
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. 61
24939912 2014
20
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
21
Basal body proteins regulate Notch signaling through endosomal trafficking. 61
24681783 2014
22
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. 61
24550735 2014
23
Characterization and molecular differentiation of 16SrI-E and 16SrIX-E phytoplasmas associated with blueberry stunt disease in New Jersey. 61
23195601 2013
24
Crystal structure of the small GTPase Arl6/BBS3 from Trypanosoma brucei. 61
23184293 2013
25
A role for the vesicle-associated tubulin binding protein ARL6 (BBS3) in flagellum extension in Trypanosoma brucei. 61
22609302 2012
26
Genotype-phenotype correlations in Bardet-Biedl syndrome. 61
22410627 2012
27
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. 61
22139371 2011
28
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. 61
22072986 2011
29
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. 61
21282186 2011
30
The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. 61
20603001 2010
31
Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling. 61
20207729 2010
32
Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. 61
20333246 2010
33
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. 61
20142850 2010
34
Molecular characterization of retinitis pigmentosa in Saudi Arabia. 61
19956407 2009
35
Characterization of PKD protein-positive exosome-like vesicles. 61
19158352 2009
36
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. 61
18381349 2008
37
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 61
16104012 2005
38
Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. 61
15917208 2005
39
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 61
15666242 2005
40
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 61
15690372 2005
41
Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes. 61
15326156 2004
42
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 61
12524598 2003
43
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 61
12118255 2002
44
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. 61
12107442 2002
45
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 61
11381270 2001
46
A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM. 61
10577922 1999
47
Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus. 61
9888993 1999
48
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. 61
9126487 1997
49
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families. 61
9039982 1997

Variations for Bardet-Biedl Syndrome 3

ClinVar genetic disease variations for Bardet-Biedl Syndrome 3:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARL6 NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter)SNV Pathogenic 2040 rs104893678 3:97506848-97506848 3:97788004-97788004
2 ARL6 NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala)SNV Pathogenic,risk factor 2041 rs104893679 3:97510641-97510641 3:97791797-97791797
3 ARL6 NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)SNV Pathogenic 2042 rs104893680 3:97487043-97487043 3:97768199-97768199
4 ARL6 NM_001278293.3(ARL6):c.509T>G (p.Leu170Trp)SNV Pathogenic 2043 rs104893681 3:97510644-97510644 3:97791800-97791800
5 ARL6 NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)SNV Pathogenic 2044 rs104893680 3:97487043-97487043 3:97768199-97768199
6 ARL6 NM_001278293.3(ARL6):c.351_353delinsGAAAA (p.Asp117fs)indel Pathogenic 370033 rs1057515576 3:97506835-97506837 3:97787991-97787993
7 ARL6 NM_001278293.3(ARL6):c.185+1G>CSNV Pathogenic 576069 rs1559679965 3:97499065-97499065 3:97780221-97780221
8 ARL6 NM_001278293.3(ARL6):c.350-13_350-2deldeletion Likely pathogenic 656044 3:97506818-97506829 3:97787977-97787988
9 ARL6 NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn)SNV Uncertain significance 663541 3:97499019-97499019 3:97780175-97780175
10 ARL6 NM_001278293.3(ARL6):c.480-8C>TSNV Benign/Likely benign 262017 rs77010939 3:97510607-97510607 3:97791763-97791763

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

73
# 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

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
12.3 TTC8 RAB3IP MKS1 MKKS LZTFL1 IFT27
2
Show member pathways
11.86 TTC8 RAB3IP MKKS LZTFL1 BBS9 BBS7

GO Terms for Bardet-Biedl Syndrome 3

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.42 TTC8 TRIM32 RAB3IP MKS1 MKKS LZTFL1
2 cytosol GO:0005829 10.39 TTC8 TRIM32 RAB3IP MKS1 MKKS LZTFL1
3 cytoskeleton GO:0005856 10.22 TTC8 RAB3IP MKS1 MKKS CEP290 BBS9
4 cell GO:0005623 10.11 TRIM32 MKKS BBS7 BBS5 BBS4 BBS2
5 microtubule organizing center GO:0005815 10.11 TTC8 MKS1 MKKS CEP290 BBS9 BBS7
6 centrosome GO:0005813 10.09 TTC8 MKS1 MKKS IFT27 CEP290 BBS7
7 ciliary basal body GO:0036064 9.97 TTC8 MKS1 MKKS CEP290 BBS7 BBS5
8 motile cilium GO:0031514 9.86 MKKS IFT27 BBS4 BBS2
9 ciliary membrane GO:0060170 9.86 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
10 cell projection GO:0042995 9.86 TTC8 RAB3IP MKS1 IFT27 CEP290 BBS9
11 axoneme GO:0005930 9.84 BBS7 BBS5 BBS1 ARL6
12 centriolar satellite GO:0034451 9.83 CEP290 BBS9 BBS5 BBS4
13 photoreceptor connecting cilium GO:0032391 9.78 TTC8 CEP290 BBS4 ARL3
14 centriole GO:0005814 9.77 MKS1 CEP290 BBS4
15 ciliary transition zone GO:0035869 9.76 MKS1 CEP290 BBS9 BBS4
16 BBSome GO:0034464 9.76 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
17 non-motile cilium GO:0097730 9.72 TTC8 BBS4 ARL13A
18 pericentriolar material GO:0000242 9.58 BBS9 BBS4
19 MKS complex GO:0036038 9.58 MKS1 CEP290
20 cilium GO:0005929 9.53 TTC8 MKS1 IFT27 CEP290 BBS9 BBS7

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 10.13 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
2 protein transport GO:0015031 10.07 TTC8 RAB3IP IFT27 CEP290 BBS9 BBS7
3 visual perception GO:0007601 10.06 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
4 fat cell differentiation GO:0045444 9.92 TTC8 TRIM32 MKKS BBS9 BBS7 BBS4
5 photoreceptor cell maintenance GO:0045494 9.91 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
6 determination of left/right symmetry GO:0007368 9.9 MKS1 MKKS BBS7 ARL6
7 smoothened signaling pathway GO:0007224 9.88 MKS1 IFT27 BBS7 ARL3
8 heart looping GO:0001947 9.87 MKKS BBS7 BBS5 BBS4
9 protein localization to cilium GO:0061512 9.85 BBS9 BBS4 BBS1 ARL6 ARL3
10 melanosome transport GO:0032402 9.85 MKKS BBS7 BBS5 BBS4 BBS2 ARL6
11 ciliary basal body-plasma membrane docking GO:0097711 9.84 RAB3IP MKS1 CEP290
12 protein localization GO:0008104 9.84 BBS7 BBS4 BBS2
13 cerebral cortex development GO:0021987 9.83 MKKS BBS4 BBS2
14 hippocampus development GO:0021766 9.83 MKKS BBS4 BBS2
15 negative regulation of GTPase activity GO:0034260 9.82 TTC8 MKKS BBS4
16 retina homeostasis GO:0001895 9.81 BBS4 BBS10 BBS1
17 positive regulation of multicellular organism growth GO:0040018 9.81 MKKS BBS4 BBS2
18 intracellular transport GO:0046907 9.81 MKKS BBS7 BBS5 BBS4
19 non-motile cilium assembly GO:1905515 9.81 TTC8 MKS1 MKKS BBS7 BBS4 BBS2
20 intraciliary transport GO:0042073 9.8 IFT27 BBS12 ARL3
21 inner ear receptor cell stereocilium organization GO:0060122 9.79 TTC8 MKS1 IFT27
22 brain morphogenesis GO:0048854 9.78 MKKS BBS4 BBS2
23 chaperone-mediated protein complex assembly GO:0051131 9.77 MKKS BBS12 BBS10
24 regulation of stress fiber assembly GO:0051492 9.76 TTC8 MKKS BBS4
25 striatum development GO:0021756 9.73 MKKS BBS4 BBS2
26 response to leptin GO:0044321 9.72 MKKS BBS4 BBS2
27 leptin-mediated signaling pathway GO:0033210 9.71 MKKS BBS4 BBS2
28 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.7 MKKS BBS4 BBS2
29 cell projection organization GO:0030030 9.7 TTC8 MKS1 CEP290 BBS9 BBS7 BBS5
30 regulation of smoothened signaling pathway GO:0008589 9.68 MKS1 ARL6
31 motile cilium assembly GO:0044458 9.68 MKS1 BBS5
32 face development GO:0060324 9.68 MKKS BBS4
33 vasodilation GO:0042311 9.68 MKKS BBS2
34 protein localization to organelle GO:0033365 9.67 BBS4 BBS2
35 negative regulation of actin filament polymerization GO:0030837 9.67 MKKS BBS4
36 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.67 MKKS BBS4 BBS2
37 artery smooth muscle contraction GO:0014824 9.65 MKKS BBS2
38 receptor localization to non-motile cilium GO:0097500 9.64 BBIP1 ARL13A
39 sensory processing GO:0050893 9.63 TTC8 BBS4
40 pigment granule aggregation in cell center GO:0051877 9.62 MKKS BBS7
41 cilium assembly GO:0060271 9.44 TTC8 MKS1 MKKS CEP290 BBS9 BBS7

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 TTC8 TRIM32 RAB3IP MKS1 MKKS LZTFL1
2 GTP binding GO:0005525 9.46 IFT27 ARL6 ARL3 ARL13A
3 RNA polymerase II repressing transcription factor binding GO:0001103 9.23 TTC8 MKKS BBS7 BBS5 BBS4 BBS2

Sources for Bardet-Biedl Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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