BBS3
MCID: BRD015
MIFTS: 49

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 20 72 29 6 15 70
Bbs3 57 12 72
Bardet-Biedl Syndrome, Type 3 73 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

31
bardet-biedl syndrome 3:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110125
OMIM® 57 600151
OMIM Phenotypic Series 57 PS209900
MeSH 44 D020788
ICD10 32 Q87.89
MedGen 41 C1859564
UMLS 70 C1859564

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) (Updated 20-May-2021)

MalaCards based summary : Bardet-Biedl Syndrome 3, also known as bbs3, is related to retinitis pigmentosa 55 and bardet-biedl syndrome 2. 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 eye, kidney 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 : 72 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 : 73 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 67)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 55 30.4 TTC8 ARL6
2 bardet-biedl syndrome 2 29.9 MKKS BBS2
3 retinal degeneration 29.5 RAB8A MKKS BBS7 BBS4 BBS10 BBS1
4 polydactyly 28.5 TTC8 MKS1 MKKS LZTFL1 BBS7 BBS5
5 bardet-biedl syndrome 1 27.9 TTC8 MKS1 MKKS LZTFL1 IFT27 BBS9
6 bardet-biedl syndrome 26.5 TTC8 SSTR3 RAB8A RAB3IP MKS1 MKKS
7 fundus dystrophy 26.4 TTC8 SSTR3 RAB8A RAB3IP MKS1 MKKS
8 retinitis pigmentosa 26.0 TTC8 SSTR3 RAB8A RAB3IP MKS1 MKKS
9 retinitis pigmentosa 74 10.3 TTC8 BBS2
10 retinitis pigmentosa 62 10.2 TTC8 BBS2
11 nonsyndromic retinitis pigmentosa 10.2 TTC8 BBS2 BBS1 ARL6
12 bardet-biedl syndrome 10 10.2 BBS12 BBS10 BBS1
13 yemenite deaf-blind hypopigmentation syndrome 10.2
14 night blindness 10.2
15 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.2
16 polykaryocytosis inducer 10.1
17 autosomal recessive disease 10.1
18 hydrocephalus 10.1
19 male infertility 10.1
20 ciliopathy 10.1
21 polydactyly, postaxial, type a1 10.1 BBS12 BBS10 BBIP1
22 eye degenerative disease 10.1 BBS4 BBS1 ARL3
23 night blindness, congenital stationary, autosomal dominant 3 10.1 BBS9 BBS5 BBS12 BBS10
24 usher syndrome type 2 10.1 BBS9 BBS5 BBS10 BBS1
25 bardet-biedl syndrome 9 10.0 TTC8 BBS9
26 usher syndrome 9.9 TTC8 BBS2 BBS12 BBS10 BBS1
27 cranioectodermal dysplasia 9.9 MKS1 IFT27 BBS9 BBS1
28 tetralogy of fallot 9.9 MKKS BBS7 BBS4 BBS2 BBS1
29 leptin deficiency or dysfunction 9.9
30 bardet-biedl syndrome 4 9.9
31 sleeping sickness 9.9
32 neuroretinitis 9.9
33 hypogonadism 9.9
34 retinitis 9.9
35 learning disability 9.9
36 inherited retinal disorder 9.9
37 kartagener syndrome 9.9 MKS1 IFT27 BBS4 BBS1
38 physical disorder 9.8 MKS1 BBS7 BBS4 BBS2 BBS1
39 nephronophthisis 2 9.8 MKS1 BBS4 BBS1 ARL13A
40 cohen syndrome 9.8 MKS1 BBS10 BBS1
41 alstrom syndrome 9.8 BBS9 BBS7 BBS5 BBS4 BBS2 BBS10
42 body mass index quantitative trait locus 11 9.7 TTC8 MKKS BBS4 BBS2 BBS1 BBIP1
43 senior-loken syndrome 1 9.7 MKS1 BBS5 BBS4 BBS12 BBS10 BBS1
44 visceral heterotaxy 9.7 MKS1 BBS7 BBS4 BBS2 BBS1 ARL3
45 cone dystrophy 9.6 MKKS BBS7 BBS5 BBS2 BBS10 BBS1
46 polycystic kidney disease 9.5 TTC8 MKS1 MKKS BBS5 BBS4 BBS1
47 polycystic kidney disease 4 with or without polycystic liver disease 9.5 SSTR3 RAB8A MKS1 BBS4 BBS1
48 bardet-biedl syndrome 15 9.5 TTC8 LZTFL1 BBS9 BBS7 BBS5 BBS12
49 retinal disease 9.5 TTC8 MKKS BBS9 BBS7 BBS5 BBS4
50 mckusick-kaufman syndrome 9.4 TTC8 MKKS BBS9 BBS7 BBS5 BBS4

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 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 global developmental delay 31 very rare (1%) HP:0001263
3 visual impairment 31 very rare (1%) HP:0000505
4 obesity 31 very rare (1%) HP:0001513
5 renal hypoplasia 31 very rare (1%) HP:0000089
6 nyctalopia 31 very rare (1%) HP:0000662
7 tricuspid regurgitation 31 very rare (1%) HP:0005180
8 pigmentary retinopathy 31 very rare (1%) HP:0000580
9 postaxial polydactyly 31 very rare (1%) HP:0100259
10 brachydactyly 31 HP:0001156
11 rod-cone dystrophy 31 HP:0000510
12 external genital hypoplasia 31 HP:0003241

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 3:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 ARL3 ARL6 BBIP1 BBS1 BBS10 BBS12
2 cellular MP:0005384 10.29 ARL3 ARL6 BBS1 BBS10 BBS12 BBS2
3 behavior/neurological MP:0005386 10.27 ARL3 ARL6 BBIP1 BBS1 BBS10 BBS12
4 nervous system MP:0003631 10.27 ARL3 ARL6 BBIP1 BBS1 BBS10 BBS12
5 adipose tissue MP:0005375 10.25 ARL6 BBS1 BBS10 BBS12 BBS2 BBS4
6 craniofacial MP:0005382 10.11 ARL6 BBS1 BBS2 BBS4 BBS7 IFT27
7 renal/urinary system MP:0005367 10.02 ARL3 BBS1 BBS10 BBS12 BBS2 BBS4
8 limbs/digits/tail MP:0005371 10.01 BBS1 BBS2 BBS5 BBS7 BBS9 IFT27
9 respiratory system MP:0005388 9.86 BBS1 BBS2 BBS4 IFT27 MKKS MKS1
10 skeleton MP:0005390 9.81 ARL6 BBS12 BBS2 BBS4 BBS5 BBS9
11 vision/eye MP:0005391 9.53 ARL3 ARL6 BBIP1 BBS1 BBS10 BBS12
12 taste/olfaction MP:0005394 9.43 BBS1 BBS2 BBS4 BBS7 MKKS TTC8

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
Eye, Kidney, Retina, Heart, Liver

Publications for Bardet-Biedl Syndrome 3

Articles related to Bardet-Biedl Syndrome 3:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 57 6 61
15258860 2004
2
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. 57 6 61
9714014 1998
3
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. 6 57
15314642 2004
4
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. 57 6
7987310 1994
5
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. 57 6
8298649 1993
6
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. 61 57
11179009 2001
7
Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization. 61 57
11050632 2000
8
Biochemical characterization of missense mutations in the Arf/Arl-family small GTPase Arl6 causing Bardet-Biedl syndrome. 6
19236846 2009
9
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. 57
8588586 1995
10
Bardet-Biedl syndrome 3 protein promotes ciliary exit of the signaling protein phospholipase D via the BBSome. 61
33587040 2021
11
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome. 61
33517424 2021
12
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. 61
32361989 2020
13
Near-atomic structures of the BBSome reveal the basis for BBSome activation and binding to GPCR cargoes. 61
32510327 2020
14
Intraflagellar transport protein RABL5/IFT22 recruits the BBSome to the basal body through the GTPase ARL6/BBS3. 61
31953262 2020
15
Structure and activation mechanism of the BBSome membrane protein trafficking complex. 61
31939736 2020
16
The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach. 61
31303482 2019
17
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. 61
29806606 2018
18
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. 61
29590217 2018
19
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. 61
28502102 2017
20
Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures. 61
27170093 2017
21
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 61
27486776 2016
22
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. 61
24400638 2015
23
The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3. 61
25443296 2014
24
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. 61
24939912 2014
25
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
26
Basal body proteins regulate Notch signaling through endosomal trafficking. 61
24681783 2014
27
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. 61
24550735 2014
28
Characterization and molecular differentiation of 16SrI-E and 16SrIX-E phytoplasmas associated with blueberry stunt disease in New Jersey. 61
23195601 2013
29
Crystal structure of the small GTPase Arl6/BBS3 from Trypanosoma brucei. 61
23184293 2013
30
Genotype-phenotype correlations in Bardet-Biedl syndrome. 61
22410627 2012
31
A role for the vesicle-associated tubulin binding protein ARL6 (BBS3) in flagellum extension in Trypanosoma brucei. 61
22609302 2012
32
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. 61
22139371 2011
33
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. 61
22072986 2011
34
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. 61
21282186 2011
35
The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. 61
20603001 2010
36
Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling. 61
20207729 2010
37
Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. 61
20333246 2010
38
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. 61
20142850 2010
39
Molecular characterization of retinitis pigmentosa in Saudi Arabia. 61
19956407 2009
40
Characterization of PKD protein-positive exosome-like vesicles. 61
19158352 2009
41
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. 61
18381349 2008
42
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 61
16104012 2005
43
Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. 61
15917208 2005
44
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 61
15666242 2005
45
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 61
15690372 2005
46
Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes. 61
15326156 2004
47
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 61
12524598 2003
48
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 61
12118255 2002
49
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. 61
12107442 2002
50
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 61
11381270 2001

Variations for Bardet-Biedl Syndrome 3

ClinVar genetic disease variations for Bardet-Biedl Syndrome 3:

6 (show top 50) (show all 57)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARL6 NM_001278293.3(ARL6):c.364C>T (p.Arg122Ter) SNV Pathogenic 2040 rs104893678 GRCh37: 3:97506848-97506848
GRCh38: 3:97788004-97788004
2 ARL6 NM_001278293.3(ARL6):c.506G>C (p.Gly169Ala) SNV Pathogenic 2041 rs104893679 GRCh37: 3:97510641-97510641
GRCh38: 3:97791797-97791797
3 ARL6 NM_001278293.3(ARL6):c.92C>T (p.Thr31Met) SNV Pathogenic 2042 rs104893680 GRCh37: 3:97487043-97487043
GRCh38: 3:97768199-97768199
4 ARL6 NM_001278293.3(ARL6):c.509T>G (p.Leu170Trp) SNV Pathogenic 2043 rs104893681 GRCh37: 3:97510644-97510644
GRCh38: 3:97791800-97791800
5 ARL6 NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg) SNV Pathogenic 2044 rs104893680 GRCh37: 3:97487043-97487043
GRCh38: 3:97768199-97768199
6 ARL6 NM_001278293.3(ARL6):c.351_353delinsGAAAA (p.Asp117fs) Indel Pathogenic 370033 rs1057515576 GRCh37: 3:97506835-97506837
GRCh38: 3:97787991-97787993
7 ARL6 NM_001278293.3(ARL6):c.185+1G>C SNV Pathogenic 576069 rs1559679965 GRCh37: 3:97499065-97499065
GRCh38: 3:97780221-97780221
8 ARL6 NM_001278293.3(ARL6):c.29T>A (p.Leu10Ter) SNV Pathogenic 997583 GRCh37: 3:97486980-97486980
GRCh38: 3:97768136-97768136
9 ARL6 NC_000003.12:g.(?_97768108)_(97768230_?)del Deletion Pathogenic 832088 GRCh37: 3:97486952-97487074
GRCh38:
10 ARL6 NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg) SNV Pathogenic 2044 rs104893680 GRCh37: 3:97487043-97487043
GRCh38: 3:97768199-97768199
11 ARL6 NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter) SNV Pathogenic 1028925 GRCh37: 3:97499501-97499501
GRCh38: 3:97780657-97780657
12 ARL6 NM_001278293.3(ARL6):c.350-13_350-2del Deletion Likely pathogenic 656044 rs1576465252 GRCh37: 3:97506818-97506829
GRCh38: 3:97787974-97787985
13 ARL6 NM_001278293.3(ARL6):c.506del (p.Gly169fs) Deletion Likely pathogenic 861499 GRCh37: 3:97510640-97510640
GRCh38: 3:97791796-97791796
14 ARL6 NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp) SNV Uncertain significance 899728 GRCh37: 3:97487072-97487072
GRCh38: 3:97768228-97768228
15 ARL6 NM_001278293.3(ARL6):c.266C>A (p.Ala89Asp) SNV Uncertain significance 899729 GRCh37: 3:97503810-97503810
GRCh38: 3:97784966-97784966
16 ARL6 NM_001278293.3(ARL6):c.266C>G (p.Ala89Gly) SNV Uncertain significance 900888 GRCh37: 3:97503810-97503810
GRCh38: 3:97784966-97784966
17 ARL6 NM_001278293.3(ARL6):c.306G>A (p.Met102Ile) SNV Uncertain significance 900889 GRCh37: 3:97503850-97503850
GRCh38: 3:97785006-97785006
18 ARL6 NM_001278293.3(ARL6):c.341A>G (p.Asn114Ser) SNV Uncertain significance 900890 GRCh37: 3:97503885-97503885
GRCh38: 3:97785041-97785041
19 ARL6 NM_001278293.3(ARL6):c.*495C>T SNV Uncertain significance 900957 GRCh37: 3:97517388-97517388
GRCh38: 3:97798544-97798544
20 ARL6 NM_032146.5(ARL6):c.-415C>T SNV Uncertain significance 902482 GRCh37: 3:97483533-97483533
GRCh38: 3:97764689-97764689
21 ARL6 NM_032146.5(ARL6):c.-411A>G SNV Uncertain significance 902483 GRCh37: 3:97483537-97483537
GRCh38: 3:97764693-97764693
22 ARL6 NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln) SNV Uncertain significance 900891 GRCh37: 3:97506849-97506849
GRCh38: 3:97788005-97788005
23 ARL6 NM_001278293.3(ARL6):c.365G>C (p.Arg122Pro) SNV Uncertain significance 902555 GRCh37: 3:97506849-97506849
GRCh38: 3:97788005-97788005
24 ARL6 NM_001278293.3(ARL6):c.550G>T (p.Val184Leu) SNV Uncertain significance 941393 GRCh37: 3:97516882-97516882
GRCh38: 3:97798038-97798038
25 ARL6 NM_001278293.3(ARL6):c.551_552del (p.Val184fs) Microsatellite Uncertain significance 954679 GRCh37: 3:97516881-97516882
GRCh38: 3:97798037-97798038
26 ARL6 NM_001278293.3(ARL6):c.526T>C (p.Trp176Arg) SNV Uncertain significance 346942 rs886058938 GRCh37: 3:97510661-97510661
GRCh38: 3:97791817-97791817
27 ARL6 NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn) SNV Uncertain significance 663541 rs757995078 GRCh37: 3:97499019-97499019
GRCh38: 3:97780175-97780175
28 ARL6 NM_001278293.3(ARL6):c.17G>A (p.Arg6Lys) SNV Uncertain significance 1003434 GRCh37: 3:97486968-97486968
GRCh38: 3:97768124-97768124
29 ARL6 NM_001278293.3(ARL6):c.226T>C (p.Tyr76His) SNV Uncertain significance 1014365 GRCh37: 3:97499499-97499499
GRCh38: 3:97780655-97780655
30 ARL6 NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp) SNV Uncertain significance 899728 GRCh37: 3:97487072-97487072
GRCh38: 3:97768228-97768228
31 ARL6 NM_001278293.3(ARL6):c.328G>A (p.Asp110Asn) SNV Uncertain significance 1026308 GRCh37: 3:97503872-97503872
GRCh38: 3:97785028-97785028
32 overlap with 2 genes NC_000003.11:g.(?_97439105)_(97510809_?)dup Duplication Uncertain significance 1056383 GRCh37: 3:97439105-97510809
GRCh38:
33 ARL6 NM_001278293.3(ARL6):c.458A>G (p.Lys153Arg) SNV Uncertain significance 1058486 GRCh37: 3:97506942-97506942
GRCh38: 3:97788098-97788098
34 ARL6 NM_001278293.3(ARL6):c.361C>T (p.Arg121Cys) SNV Uncertain significance 624217 rs202044896 GRCh37: 3:97506845-97506845
GRCh38: 3:97788001-97788001
35 ARL6 NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys) SNV Uncertain significance 1024607 GRCh37: 3:97487000-97487000
GRCh38: 3:97768156-97768156
36 ARL6 NM_001278293.3(ARL6):c.349+4T>C SNV Uncertain significance 1006892 GRCh37: 3:97503897-97503897
GRCh38: 3:97785053-97785053
37 ARL6 NM_001278293.3(ARL6):c.365G>A (p.Arg122Gln) SNV Uncertain significance 900891 GRCh37: 3:97506849-97506849
GRCh38: 3:97788005-97788005
38 ARL6 NM_001278293.3(ARL6):c.499G>A (p.Gly167Arg) SNV Uncertain significance 936753 GRCh37: 3:97510634-97510634
GRCh38: 3:97791790-97791790
39 ARL6 NM_001278293.3(ARL6):c.*309T>C SNV Uncertain significance 899792 GRCh37: 3:97517202-97517202
GRCh38: 3:97798358-97798358
40 ARL6 NM_001278293.3(ARL6):c.317A>G (p.Lys106Arg) SNV Uncertain significance 853015 GRCh37: 3:97503861-97503861
GRCh38: 3:97785017-97785017
41 ARL6 NM_001278293.3(ARL6):c.493A>G (p.Ile165Val) SNV Uncertain significance 840342 GRCh37: 3:97510628-97510628
GRCh38: 3:97791784-97791784
42 ARL6 NM_001278293.3(ARL6):c.40_42AAG[2] (p.Lys16del) Microsatellite Uncertain significance 838345 GRCh37: 3:97486990-97486992
GRCh38: 3:97768146-97768148
43 ARL6 NM_001278293.3(ARL6):c.-137A>C SNV Uncertain significance 346939 rs192372191 GRCh37: 3:97483712-97483712
GRCh38: 3:97764868-97764868
44 ARL6 NM_001278293.3(ARL6):c.*275G>A SNV Uncertain significance 346946 rs886058939 GRCh37: 3:97517168-97517168
GRCh38: 3:97798324-97798324
45 ARL6 NM_001278293.3(ARL6):c.-146T>C SNV Uncertain significance 346938 rs886058937 GRCh37: 3:97483703-97483703
GRCh38: 3:97764859-97764859
46 ARL6 NM_001278293.3(ARL6):c.-207G>A SNV Uncertain significance 346937 rs189005414 GRCh37: 3:97483642-97483642
GRCh38: 3:97764798-97764798
47 ARL6 NM_001278293.3(ARL6):c.-71C>G SNV Uncertain significance 346940 rs777066573 GRCh37: 3:97483778-97483778
GRCh38: 3:97764934-97764934
48 ARL6 NM_001278293.3(ARL6):c.536-4T>C SNV Uncertain significance 346943 rs201939836 GRCh37: 3:97516864-97516864
GRCh38: 3:97798020-97798020
49 ARL6 NM_001278293.3(ARL6):c.-27-1461A>T SNV Likely benign 346941 rs143739859 GRCh37: 3:97485464-97485464
GRCh38: 3:97766620-97766620
50 ARL6 NM_001278293.3(ARL6):c.*470G>A SNV Likely benign 346948 rs184213166 GRCh37: 3:97517363-97517363
GRCh38: 3:97798519-97798519

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

72
# 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
12.33 TTC8 SSTR3 RAB8A RAB3IP MKS1 MKKS
2
Show member pathways
11.91 TTC8 SSTR3 RAB8A RAB3IP MKKS LZTFL1

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 cytoplasm GO:0005737 10.41 TTC8 SSTR3 RAB8A RAB3IP MKS1 MKKS
2 cytosol GO:0005829 10.35 TTC8 RAB8A RAB3IP MKS1 MKKS LZTFL1
3 cytoskeleton GO:0005856 10.22 TTC8 RAB8A RAB3IP MKS1 MKKS BBS9
4 centrosome GO:0005813 10.13 TTC8 RAB8A RAB3IP MKS1 MKKS IFT27
5 microtubule organizing center GO:0005815 10.07 TTC8 MKS1 MKKS BBS9 BBS7 BBS5
6 ciliary basal body GO:0036064 9.97 TTC8 RAB3IP MKS1 MKKS BBS7 BBS5
7 motile cilium GO:0031514 9.89 MKKS IFT27 BBS4 BBS2 ARL13A
8 BBSome GO:0034464 9.86 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
9 cell projection GO:0042995 9.86 TTC8 RAB8A RAB3IP MKS1 IFT27 BBS9
10 non-motile cilium GO:0097730 9.85 TTC8 SSTR3 RAB8A BBS4 ARL13A
11 ciliary membrane GO:0060170 9.85 TTC8 SSTR3 BBS9 BBS7 BBS5 BBS4
12 axoneme GO:0005930 9.81 BBS7 BBS5 BBS1 ARL6
13 centriole GO:0005814 9.74 RAB8A MKS1 BBS4
14 centriolar satellite GO:0034451 9.72 BBS9 BBS5 BBS4
15 ciliary transition zone GO:0035869 9.7 MKS1 BBS9 BBS4
16 pericentriolar material GO:0000242 9.56 BBS9 BBS4
17 cilium GO:0005929 9.53 TTC8 SSTR3 RAB8A MKS1 IFT27 BBS9

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

(show all 34)
# 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 RAB8A RAB3IP IFT27 BBS9 BBS7
3 visual perception GO:0007601 10.02 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
4 fat cell differentiation GO:0045444 9.91 TTC8 MKKS BBS9 BBS7 BBS4 BBS2
5 photoreceptor cell maintenance GO:0045494 9.88 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
6 determination of left/right symmetry GO:0007368 9.86 MKS1 MKKS BBS7 ARL6
7 heart looping GO:0001947 9.85 MKKS BBS7 BBS5 BBS4
8 protein localization to cilium GO:0061512 9.85 BBS9 BBS4 BBS1 ARL6 ARL3
9 cerebral cortex development GO:0021987 9.81 MKKS BBS4 BBS2
10 intracellular transport GO:0046907 9.81 MKKS BBS7 BBS5 BBS4
11 non-motile cilium assembly GO:1905515 9.81 TTC8 MKS1 MKKS BBS7 BBS4 BBS2
12 smoothened signaling pathway GO:0007224 9.8 IFT27 BBS7 ARL3
13 hippocampus development GO:0021766 9.8 MKKS BBS4 BBS2
14 melanosome transport GO:0032402 9.8 MKKS BBS7 BBS5 BBS4 BBS2 ARL6
15 intraciliary transport GO:0042073 9.78 IFT27 BBS12 ARL3
16 brain morphogenesis GO:0048854 9.77 MKKS BBS4 BBS2
17 inner ear receptor cell stereocilium organization GO:0060122 9.76 TTC8 MKS1 IFT27
18 protein localization to organelle GO:0033365 9.75 RAB3IP BBS4 BBS2
19 chaperone-mediated protein complex assembly GO:0051131 9.74 MKKS BBS12 BBS10
20 striatum development GO:0021756 9.71 MKKS BBS4 BBS2
21 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.7 MKKS BBS4 BBS2
22 cell projection organization GO:0030030 9.7 TTC8 RAB8A MKS1 BBS9 BBS7 BBS5
23 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.67 MKKS BBS4 BBS2
24 motile cilium assembly GO:0044458 9.66 MKS1 BBS5
25 vasodilation GO:0042311 9.66 MKKS BBS2
26 Golgi to plasma membrane transport GO:0006893 9.65 RAB3IP ARL3
27 regulation of stress fiber assembly GO:0051492 9.65 TTC8 MKKS
28 artery smooth muscle contraction GO:0014824 9.65 MKKS BBS2
29 response to leptin GO:0044321 9.64 MKKS BBS2
30 leptin-mediated signaling pathway GO:0033210 9.64 MKKS BBS2
31 receptor localization to non-motile cilium GO:0097500 9.62 BBIP1 ARL13A
32 sensory processing GO:0050893 9.61 TTC8 BBS4
33 pigment granule aggregation in cell center GO:0051877 9.6 MKKS BBS7
34 cilium assembly GO:0060271 9.47 TTC8 RAB8A RAB3IP MKS1 MKKS BBS9

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 10.13 TTC8 SSTR3 RAB8A RAB3IP MKS1 MKKS
2 GTPase activity GO:0003924 9.56 RAB8A IFT27 ARL6 ARL3
3 GTP binding GO:0005525 9.35 RAB8A IFT27 ARL6 ARL3 ARL13A
4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....