BBS6
MCID: BRD018
MIFTS: 50

Bardet-Biedl Syndrome 6 (BBS6)

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 6

MalaCards integrated aliases for Bardet-Biedl Syndrome 6:

Name: Bardet-Biedl Syndrome 6 57 12 20 72 29 6 15 70
Bbs6 57 12 72
Bardet-Biedl Syndrome, Type 6 39

Characteristics:

OMIM®:

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


HPO:

31
bardet-biedl syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110128
OMIM® 57 605231
OMIM Phenotypic Series 57 PS209900
MeSH 44 D020788
ICD10 32 Q87.89
MedGen 41 C1858054
UMLS 70 C1858054

Summaries for Bardet-Biedl Syndrome 6

UniProtKB/Swiss-Prot : 72 Bardet-Biedl syndrome 6: 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.

MalaCards based summary : Bardet-Biedl Syndrome 6, also known as bbs6, is related to bardet-biedl syndrome 2 and bardet-biedl syndrome 10. An important gene associated with Bardet-Biedl Syndrome 6 is MKKS (MKKS Centrosomal Shuttling Protein), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include eye, kidney and liver, and related phenotypes are intellectual disability and diabetes mellitus

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12.

OMIM® : 57 BBS6 is an autosomal recessive disorder with cardinal features of postaxial polydactyly, retinitis pigmentosa, kidney defects, obesity, and mental retardation (Slavotinek et al., 2000). Zaghloul and Katsanis (2009) estimated that mutations in the MKKS gene account for 5.8% of the total BBS mutational load. For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (605231) (Updated 20-May-2021)

Related Diseases for Bardet-Biedl Syndrome 6

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

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 2 30.5 MKKS BBS2
2 bardet-biedl syndrome 10 30.0 BBS12 BBS10 BBS1 ALMS1
3 body mass index quantitative trait locus 11 29.8 TTC8 MKKS BBS4 BBS2 BBS1 BBIP1
4 retinal degeneration 29.8 MKKS IFT88 CEP290 BBS7 BBS4 BBS10
5 mckusick-kaufman syndrome 29.8 TTC8 MKKS BBS9 BBS7 BBS5 BBS4
6 heart disease 29.5 MKS1 MKKS CEP290 BBS7 BBS2 BBS12
7 polydactyly 28.6 TTC8 SDCCAG8 MKS1 MKKS LZTFL1 CEP290
8 bardet-biedl syndrome 3 27.6 TTC8 MKS1 MKKS LZTFL1 IFT88 IFT27
9 bardet-biedl syndrome 1 27.0 TTC8 SDCCAG8 MKS1 MKKS LZTFL1 IFT88
10 bardet-biedl syndrome 27.0 TTC8 SDCCAG8 MKS1 MKKS LZTFL1 KIF3A
11 fundus dystrophy 26.9 TTC8 SDCCAG8 MKS1 MKKS KIF3A INVS
12 retinitis pigmentosa 26.6 TTC8 SDCCAG8 MKS1 MKKS LZTFL1 KIF3A
13 nephronophthisis 26.5 TTC8 SDCCAG8 MKS1 MKKS KIF3A INVS
14 retinitis pigmentosa 74 10.3 TTC8 BBS2
15 retinitis pigmentosa 62 10.3 TTC8 BBS2
16 nonsyndromic retinitis pigmentosa 10.3 TTC8 BBS2 BBS1
17 joubert syndrome 6 10.2 MKS1 CEP290
18 polydactyly, postaxial, type a1 10.2 BBS12 BBS10 BBIP1
19 joubert syndrome 2 10.2 MKS1 CEP290
20 joubert syndrome 9 10.2 MKS1 CEP290
21 joubert syndrome 24 10.2 IFT88 CEP290
22 retinal aplasia 10.2 SDCCAG8 CEP290
23 eye degenerative disease 10.2 CEP290 BBS4 BBS1
24 encephalocele 10.2 MKS1 CEP290
25 night blindness, congenital stationary, autosomal dominant 3 10.2 BBS9 BBS5 BBS12 BBS10
26 leber congenital amaurosis 6 10.2 MKS1 CEP290
27 leber congenital amaurosis / early-onset severe retinal dystrophy 10.1 CEP290 ALMS1
28 ciliary dyskinesia, primary, 9 10.1 KIF3A IFT88 BBS4
29 joubert syndrome 7 10.1 MKS1 CEP290
30 bardet-biedl syndrome 12 10.1
31 neuroretinitis 10.1
32 retinitis 10.1
33 nephronophthisis 13 10.1 SDCCAG8 INVS
34 borjeson-forssman-lehmann syndrome 10.1 BBS12 BBS10 ALMS1
35 nephronophthisis 14 10.1 MKS1 INVS CEP290
36 meckel syndrome, type 6 10.1 MKS1 INVS CEP290
37 tetralogy of fallot 10.1 MKKS BBS7 BBS4 BBS2 BBS1
38 nephronophthisis 18 10.1 SDCCAG8 INVS
39 orofaciodigital syndrome 10.0 KIF3A IFT88 CEP290
40 bardet-biedl syndrome 9 10.0 TTC8 BBS9
41 orofaciodigital syndrome i 10.0 IFT88 CEP290
42 coach syndrome 1 10.0 SDCCAG8 MKS1 CEP290
43 nephronophthisis 11 10.0 SDCCAG8 INVS CEP290
44 nephronophthisis 16 10.0 SDCCAG8 INVS CEP290
45 usher syndrome type 2 10.0 CEP290 BBS9 BBS5 BBS10 BBS1
46 nephronophthisis 12 10.0 SDCCAG8 INVS CEP290
47 ciliopathy 10.0 SDCCAG8 CEP290 BBS7 BBS1
48 inherited retinal disorder 10.0
49 renal-hepatic-pancreatic dysplasia 10.0 SDCCAG8 INVS CEP290
50 short-rib thoracic dysplasia 1 with or without polydactyly 10.0 INVS CEP290 BBS10

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 6:



Diseases related to Bardet-Biedl Syndrome 6

Symptoms & Phenotypes for Bardet-Biedl Syndrome 6

Human phenotypes related to Bardet-Biedl Syndrome 6:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 diabetes mellitus 31 HP:0000819
3 obesity 31 HP:0001513
4 hypospadias 31 HP:0000047
5 rod-cone dystrophy 31 HP:0000510
6 renal cyst 31 HP:0000107
7 polydactyly 31 HP:0010442
8 syndactyly 31 HP:0001159
9 external genital hypoplasia 31 HP:0003241

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Endocrine Features:
diabetes mellitus

Genitourinary External Genitalia Male:
hypospadias
hypogenitalism

Skeletal Hands:
polydactyly

Neurologic Central Nervous System:
mental retardation
learning disabilities

Growth Weight:
obesity

Head And Neck Eyes:
retinal dystrophy
retinitis pigmentosa

Skeletal Feet:
syndactyly

Genitourinary Kidneys:
cystic kidneys
structural renal abnormalities
lobulated kidneys

Clinical features from OMIM®:

605231 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 6:

46 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.52 ALMS1 BBIP1 BBS1 BBS10 BBS12 BBS2
2 cellular MP:0005384 10.47 ALMS1 BBS1 BBS10 BBS12 BBS2 BBS4
3 behavior/neurological MP:0005386 10.4 ALMS1 BBIP1 BBS1 BBS10 BBS12 BBS2
4 homeostasis/metabolism MP:0005376 10.4 ALMS1 BBS1 BBS10 BBS12 BBS2 BBS4
5 nervous system MP:0003631 10.36 ALMS1 BBIP1 BBS1 BBS10 BBS12 BBS2
6 craniofacial MP:0005382 10.34 BBS1 BBS2 BBS4 BBS7 CEP290 IFT27
7 cardiovascular system MP:0005385 10.32 BBS1 BBS4 BBS5 BBS7 CEP290 IFT27
8 mortality/aging MP:0010768 10.28 BBIP1 BBS1 BBS10 BBS4 BBS7 CEP290
9 adipose tissue MP:0005375 10.24 ALMS1 BBS1 BBS10 BBS12 BBS2 BBS4
10 limbs/digits/tail MP:0005371 10.22 BBS1 BBS2 BBS5 BBS7 BBS9 IFT27
11 renal/urinary system MP:0005367 10.21 ALMS1 BBS1 BBS10 BBS12 BBS2 BBS4
12 digestive/alimentary MP:0005381 10.2 BBS2 BBS4 BBS7 IFT27 IFT88 INVS
13 embryo MP:0005380 10.19 BBS1 BBS10 BBS4 BBS7 IFT27 IFT88
14 liver/biliary system MP:0005370 10 ALMS1 BBS2 BBS4 CEP290 IFT88 INVS
15 respiratory system MP:0005388 10 BBS1 BBS2 BBS4 CEP290 IFT27 IFT88
16 hearing/vestibular/ear MP:0005377 9.99 ALMS1 BBS1 BBS4 IFT88 MKKS MKS1
17 reproductive system MP:0005389 9.97 ALMS1 BBIP1 BBS1 BBS2 BBS4 BBS7
18 skeleton MP:0005390 9.85 BBS12 BBS2 BBS4 BBS5 BBS9 CEP290
19 vision/eye MP:0005391 9.58 ALMS1 BBIP1 BBS1 BBS10 BBS12 BBS2
20 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 BBS7 CEP290 MKKS

Drugs & Therapeutics for Bardet-Biedl Syndrome 6

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 6

Genetic Tests for Bardet-Biedl Syndrome 6

Genetic tests related to Bardet-Biedl Syndrome 6:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 6 29 MKKS

Anatomical Context for Bardet-Biedl Syndrome 6

MalaCards organs/tissues related to Bardet-Biedl Syndrome 6:

40
Eye, Kidney, Liver, Heart

Publications for Bardet-Biedl Syndrome 6

Articles related to Bardet-Biedl Syndrome 6:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 57 6
10973251 2000
2
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 6 61
28761321 2017
3
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 61 57
20472660 2010
4
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 6 61
11567139 2001
5
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
6
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 57
25982971 2015
7
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. 6
22446187 2012
8
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 57
19252258 2009
9
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 6
15637713 2005
10
Mutations in MKKS cause Bardet-Biedl syndrome. 57
10973238 2000
11
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 6
10802661 2000
12
Legg-Calvé-Perthes disease in a patient with Bardet-Biedl syndrome: A case report of a novel MKKS/BBS6 mutation. 61
33363891 2020
13
Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin. 61
31989739 2020
14
Tissue-dependent differences in Bardet-Biedl syndrome gene expression. 61
31845361 2020
15
Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model. 61
31506453 2019
16
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. 61
30901771 2019
17
Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. 61
30312873 2018
18
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. 61
29127258 2018
19
[Patho-physiology of renal dysfunction in Bardet-Biedl Syndrome]. 61
28963828 2017
20
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. 61
28753627 2017
21
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12). 61
28824921 2017
22
IL-6 ameliorates defective leptin sensitivity in DIO ventromedial hypothalamic nucleus neurons. 61
27534878 2016
23
Diversifying Selection Between Pure-Breed and Free-Breeding Dogs Inferred from Genome-Wide SNP Analysis. 61
27233669 2016
24
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome. 61
26900326 2016
25
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families. 61
26082521 2015
26
Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort. 61
24400638 2015
27
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
28
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 61
23432027 2014
29
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. 61
23716571 2013
30
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 61
22500027 2012
31
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. 61
21044901 2011
32
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 61
20876674 2011
33
BBS10 mutations are common in 'Meckel'-type cystic kidneys. 61
20805367 2010
34
Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes. 61
20852044 2010
35
CCTalpha and CCTdelta chaperonin subunits are essential and required for cilia assembly and maintenance in Tetrahymena. 61
20502701 2010
36
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 61
20120035 2010
37
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. 61
20142850 2010
38
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 61
20080638 2010
39
Primary cilia of odontoblasts: possible role in molar morphogenesis. 61
19783798 2009
40
Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice. 61
19195025 2009
41
Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions. 61
19396898 2009
42
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling. 61
19150989 2009
43
Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population. 61
18813213 2008
44
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome. 61
18317593 2008
45
Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia. 61
18299575 2008
46
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 61
18032602 2007
47
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. 61
17906624 2007
48
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. 61
17160889 2007
49
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. 61
17003356 2006
50
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. 61
16399798 2006

Variations for Bardet-Biedl Syndrome 6

ClinVar genetic disease variations for Bardet-Biedl Syndrome 6:

6 (show top 50) (show all 71)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MKKS NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys) SNV Pathogenic 5309 rs74315396 GRCh37: 20:10394053-10394053
GRCh38: 20:10413405-10413405
2 MKKS NM_018848.3(MKKS):c.155G>A (p.Gly52Asp) SNV Pathogenic 5311 rs28937875 GRCh37: 20:10394008-10394008
GRCh38: 20:10413360-10413360
3 MKKS NM_018848.3(MKKS):c.792T>A (p.Tyr264Ter) SNV Pathogenic 5312 rs74315397 GRCh37: 20:10393371-10393371
GRCh38: 20:10412723-10412723
4 MKKS NM_018848.3(MKKS):c.281del (p.Phe94fs) Deletion Pathogenic 5313 rs587777827 GRCh37: 20:10393882-10393882
GRCh38: 20:10413234-10413234
5 MKKS MKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AG Deletion Pathogenic 5315 GRCh37:
GRCh38:
6 MKKS NM_018848.3(MKKS):c.169A>G (p.Thr57Ala) SNV Pathogenic 5316 rs74315399 GRCh37: 20:10393994-10393994
GRCh38: 20:10413346-10413346
7 MKKS NM_018848.3(MKKS):c.110A>G (p.Tyr37Cys) SNV Pathogenic 5309 rs74315396 GRCh37: 20:10394053-10394053
GRCh38: 20:10413405-10413405
8 MKKS NM_170784.2(MKKS):c.116C>T (p.Pro39Leu) SNV Pathogenic 800851 rs1270369106 GRCh37: 20:10394047-10394047
GRCh38: 20:10413399-10413399
9 MKKS NM_018848.3(MKKS):c.613A>T (p.Lys205Ter) SNV Pathogenic 522402 rs1555802009 GRCh37: 20:10393550-10393550
GRCh38: 20:10412902-10412902
10 MKKS NM_170784.3(MKKS):c.-41_985+60del Deletion Pathogenic 992464 GRCh37: 20:10393118-10394203
GRCh38: 20:10412470-10413555
11 MKKS NM_018848.3(MKKS):c.830T>C (p.Leu277Pro) SNV Pathogenic 5314 rs74315398 GRCh37: 20:10393333-10393333
GRCh38: 20:10412685-10412685
12 MKKS NM_018848.3(MKKS):c.119C>G (p.Ser40Ter) SNV Likely pathogenic 549478 rs753338844 GRCh37: 20:10394044-10394044
GRCh38: 20:10413396-10413396
13 MKKS NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) SNV Conflicting interpretations of pathogenicity 100586 rs137853909 GRCh37: 20:10389422-10389422
GRCh38: 20:10408774-10408774
14 MKKS NM_018848.3(MKKS):c.1474G>A (p.Asp492Asn) SNV Uncertain significance 95921 rs142327258 GRCh37: 20:10386134-10386134
GRCh38: 20:10405486-10405486
15 MKKS NM_018848.3(MKKS):c.1474G>A (p.Asp492Asn) SNV Uncertain significance 95921 rs142327258 GRCh37: 20:10386134-10386134
GRCh38: 20:10405486-10405486
16 MKKS NM_170784.3(MKKS):c.1161+3A>G SNV Uncertain significance 860468 GRCh37: 20:10389273-10389273
GRCh38: 20:10408625-10408625
17 MKKS NM_170784.3(MKKS):c.1625T>G (p.Leu542Trp) SNV Uncertain significance 1030676 GRCh37: 20:10385983-10385983
GRCh38: 20:10405335-10405335
18 MKKS NM_170784.3(MKKS):c.1598C>T (p.Ser533Leu) SNV Uncertain significance 895531 GRCh37: 20:10386010-10386010
GRCh38: 20:10405362-10405362
19 MKKS NM_018848.3(MKKS):c.1553G>A (p.Arg518His) SNV Uncertain significance 215903 rs149051148 GRCh37: 20:10386055-10386055
GRCh38: 20:10405407-10405407
20 MKKS NM_170784.3(MKKS):c.1670A>G (p.Asn557Ser) SNV Uncertain significance 898520 GRCh37: 20:10385938-10385938
GRCh38: 20:10405290-10405290
21 MKKS NM_170784.3(MKKS):c.1645C>T (p.Leu549=) SNV Uncertain significance 898521 GRCh37: 20:10385963-10385963
GRCh38: 20:10405315-10405315
22 MKKS NM_018848.3(MKKS):c.757T>C (p.Ser253Pro) SNV Uncertain significance 463179 rs201785599 GRCh37: 20:10393406-10393406
GRCh38: 20:10412758-10412758
23 MKKS NM_170784.3(MKKS):c.-159A>C SNV Uncertain significance 898647 GRCh37: 20:10394321-10394321
GRCh38: 20:10413673-10413673
24 MKKS NM_170784.3(MKKS):c.329G>T (p.Gly110Val) SNV Uncertain significance 895605 GRCh37: 20:10393834-10393834
GRCh38: 20:10413186-10413186
25 MKKS NM_170784.3(MKKS):c.180C>T (p.Ser60=) SNV Uncertain significance 895606 GRCh37: 20:10393983-10393983
GRCh38: 20:10413335-10413335
26 MKKS NM_170784.3(MKKS):c.-384C>T SNV Uncertain significance 895667 GRCh37: 20:10394546-10394546
GRCh38: 20:10413898-10413898
27 MKKS NM_170784.3(MKKS):c.-388A>G SNV Uncertain significance 895668 GRCh37: 20:10394550-10394550
GRCh38: 20:10413902-10413902
28 MKKS NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys) SNV Uncertain significance 852022 GRCh37: 20:10386245-10386245
GRCh38: 20:10405597-10405597
29 MKKS NM_170784.3(MKKS):c.1307A>T (p.Asp436Val) SNV Uncertain significance 896932 GRCh37: 20:10386301-10386301
GRCh38: 20:10405653-10405653
30 MKKS NM_018848.3(MKKS):c.67A>G (p.Arg23Gly) SNV Uncertain significance 497476 rs147545395 GRCh37: 20:10394096-10394096
GRCh38: 20:10413448-10413448
31 MKKS NM_170784.3(MKKS):c.*112C>T SNV Uncertain significance 897364 GRCh37: 20:10385783-10385783
GRCh38: 20:10405135-10405135
32 MKKS NM_170784.3(MKKS):c.*103A>G SNV Uncertain significance 897365 GRCh37: 20:10385792-10385792
GRCh38: 20:10405144-10405144
33 MKKS NM_170784.3(MKKS):c.1307A>G (p.Asp436Gly) SNV Uncertain significance 897429 GRCh37: 20:10386301-10386301
GRCh38: 20:10405653-10405653
34 MKKS NM_170784.3(MKKS):c.1057G>A (p.Ala353Thr) SNV Uncertain significance 897430 GRCh37: 20:10389380-10389380
GRCh38: 20:10408732-10408732
35 MKKS NM_018848.3(MKKS):c.*460T>C SNV Uncertain significance 337684 rs886056496 GRCh37: 20:10385435-10385435
GRCh38: 20:10404787-10404787
36 MKKS NM_018848.3(MKKS):c.874C>T (p.Leu292=) SNV Uncertain significance 337691 rs758645426 GRCh37: 20:10393289-10393289
GRCh38: 20:10412641-10412641
37 MKKS NM_018848.3(MKKS):c.-406G>C SNV Uncertain significance 337701 rs886056500 GRCh37: 20:10394568-10394568
GRCh38: 20:10413920-10413920
38 MKKS NM_018848.3(MKKS):c.*21A>G SNV Uncertain significance 337687 rs532973454 GRCh37: 20:10385874-10385874
GRCh38: 20:10405226-10405226
39 MKKS NM_018848.3(MKKS):c.-481T>A SNV Uncertain significance 337704 rs886056502 GRCh37: 20:10401239-10401239
GRCh38: 20:10420591-10420591
40 MKKS NM_018848.3(MKKS):c.-495C>A SNV Uncertain significance 337705 rs536112369 GRCh37: 20:10401253-10401253
GRCh38: 20:10420605-10420605
41 MKKS NM_018848.3(MKKS):c.-22A>C SNV Uncertain significance 337695 rs531656259 GRCh37: 20:10394184-10394184
GRCh38: 20:10413536-10413536
42 MKKS NM_018848.3(MKKS):c.-557A>G SNV Uncertain significance 337707 rs145467994 GRCh37: 20:10401315-10401315
GRCh38: 20:10420667-10420667
43 MKKS NM_018848.3(MKKS):c.1269C>T (p.His423=) SNV Uncertain significance 337690 rs144313303 GRCh37: 20:10388267-10388267
GRCh38: 20:10407619-10407619
44 MKKS NM_018848.3(MKKS):c.-707C>T SNV Uncertain significance 337710 rs886056504 GRCh37: 20:10412390-10412390
GRCh38: 20:10431742-10431742
45 MKKS NM_018848.3(MKKS):c.-477G>T SNV Uncertain significance 337703 rs886056501 GRCh37: 20:10401235-10401235
GRCh38: 20:10420587-10420587
46 MKKS NM_018848.3(MKKS):c.82G>C (p.Val28Leu) SNV Uncertain significance 337693 rs368653529 GRCh37: 20:10394081-10394081
GRCh38: 20:10413433-10413433
47 MKKS NM_018848.3(MKKS):c.-21C>G SNV Uncertain significance 337694 rs886056498 GRCh37: 20:10394183-10394183
GRCh38: 20:10413535-10413535
48 MKKS NM_018848.3(MKKS):c.-39A>C SNV Uncertain significance 337696 rs886056499 GRCh37: 20:10394201-10394201
GRCh38: 20:10413553-10413553
49 MKKS NM_018848.3(MKKS):c.-306A>G SNV Uncertain significance 337699 rs3748466 GRCh37: 20:10394468-10394468
GRCh38: 20:10413820-10413820
50 MKKS NM_018848.3(MKKS):c.1282G>A (p.Asp428Asn) SNV Uncertain significance 337689 rs779416496 GRCh37: 20:10386326-10386326
GRCh38: 20:10405678-10405678

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 6:

72 (show all 20)
# Symbol AA change Variation ID SNP ID
1 MKKS p.Tyr37Cys VAR_009864 rs74315396
2 MKKS p.Gly52Asp VAR_009882 rs28937875
3 MKKS p.Thr57Ala VAR_009883 rs74315399
4 MKKS p.Leu277Pro VAR_009884 rs74315398
5 MKKS p.Cys499Ser VAR_013161 rs281797259
6 MKKS p.Ile32Met VAR_017035
7 MKKS p.Ser236Pro VAR_017036
8 MKKS p.Asp286Ala VAR_017037
9 MKKS p.Ser511Ala VAR_017038
10 MKKS p.Arg518His VAR_017039 rs149051148
11 MKKS p.Arg155Leu VAR_017040 rs138111422
12 MKKS p.Gly345Glu VAR_017042 rs779116830
13 MKKS p.Ala181Pro VAR_038898
14 MKKS p.Thr237Ala VAR_038899 rs760185677
15 MKKS p.Thr237Pro VAR_038900
16 MKKS p.Ser460Pro VAR_038902
17 MKKS p.Gly41Arg VAR_066262 rs766132697
18 MKKS p.Cys99Arg VAR_066263 rs129798522
19 MKKS p.Pro299Leu VAR_066264 rs756083063
20 MKKS p.His395Arg VAR_077208 rs912923677

Expression for Bardet-Biedl Syndrome 6

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 6.

Pathways for Bardet-Biedl Syndrome 6

GO Terms for Bardet-Biedl Syndrome 6

Cellular components related to Bardet-Biedl Syndrome 6 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.43 TTC8 SDCCAG8 MKS1 MKKS LZTFL1 KIF3A
2 cytosol GO:0005829 10.41 TTC8 SDCCAG8 MKS1 MKKS LZTFL1 KIF3A
3 cytoskeleton GO:0005856 10.28 TTC8 SDCCAG8 MKS1 MKKS KIF3A INVS
4 centrosome GO:0005813 10.15 TTC8 SDCCAG8 MKS1 MKKS KIF3A IFT88
5 centriole GO:0005814 10 SDCCAG8 MKS1 KIF3A IFT88 CEP290 BBS4
6 ciliary basal body GO:0036064 10 TTC8 SDCCAG8 MKS1 MKKS IFT88 CEP290
7 ciliary membrane GO:0060170 9.98 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
8 microtubule organizing center GO:0005815 9.97 TTC8 SDCCAG8 MKS1 MKKS IFT88 CEP290
9 motile cilium GO:0031514 9.92 MKKS IFT88 IFT27 BBS4 BBS2
10 BBSome GO:0034464 9.92 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
11 centriolar satellite GO:0034451 9.89 SDCCAG8 CEP290 BBS9 BBS5 BBS4
12 cilium GO:0005929 9.89 TTC8 MKS1 KIF3A INVS IFT88 IFT27
13 axoneme GO:0005930 9.85 KIF3A BBS7 BBS5 BBS1
14 ciliary transition zone GO:0035869 9.81 MKS1 CEP290 BBS9 BBS4
15 ciliary tip GO:0097542 9.74 KIF3A IFT88 IFT27
16 non-motile cilium GO:0097730 9.73 TTC8 IFT88 BBS4
17 pericentriolar material GO:0000242 9.59 BBS9 BBS4
18 intraciliary transport particle B GO:0030992 9.58 IFT88 IFT27
19 MKS complex GO:0036038 9.58 MKS1 CEP290
20 cell projection GO:0042995 9.58 TTC8 SDCCAG8 MKS1 KIF3A INVS IFT88

Biological processes related to Bardet-Biedl Syndrome 6 according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 10.1 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
2 protein transport GO:0015031 10 TTC8 KIF3A IFT27 CEP290 BBS9 BBS7
3 visual perception GO:0007601 9.97 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
4 fat cell differentiation GO:0045444 9.91 TTC8 MKKS BBS9 BBS7 BBS4 BBS2
5 ciliary basal body-plasma membrane docking GO:0097711 9.88 SDCCAG8 MKS1 CEP290 ALMS1
6 heart looping GO:0001947 9.85 MKKS BBS7 BBS5 BBS4
7 G2/M transition of mitotic cell cycle GO:0000086 9.84 SDCCAG8 CEP290 ALMS1
8 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.83 SDCCAG8 CEP290 ALMS1
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 IFT88 BBS7 BBS4
12 determination of left/right symmetry GO:0007368 9.8 MKS1 MKKS BBS7
13 hippocampus development GO:0021766 9.8 MKKS BBS4 BBS2
14 melanosome transport GO:0032402 9.8 MKKS BBS7 BBS5 BBS4 BBS2
15 photoreceptor cell maintenance GO:0045494 9.8 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
16 intraciliary transport involved in cilium assembly GO:0035735 9.79 KIF3A IFT88 IFT27
17 protein localization to cilium GO:0061512 9.78 BBS9 BBS4 BBS1
18 intraciliary transport GO:0042073 9.77 IFT88 IFT27 BBS12
19 cilium assembly GO:0060271 9.77 TTC8 MKS1 MKKS KIF3A IFT88 CEP290
20 brain morphogenesis GO:0048854 9.76 MKKS BBS4 BBS2
21 inner ear receptor cell stereocilium organization GO:0060122 9.76 TTC8 MKS1 IFT88 IFT27
22 chaperone-mediated protein complex assembly GO:0051131 9.74 MKKS BBS12 BBS10
23 regulation of stress fiber assembly GO:0051492 9.73 TTC8 MKKS ALMS1
24 striatum development GO:0021756 9.71 MKKS BBS4 BBS2
25 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.7 MKKS BBS4 BBS2
26 positive regulation of intracellular protein transport GO:0090316 9.67 KIF3A CEP290
27 motile cilium assembly GO:0044458 9.67 MKS1 BBS5
28 vasodilation GO:0042311 9.67 MKKS BBS2
29 protein localization to organelle GO:0033365 9.66 BBS4 BBS2
30 artery smooth muscle contraction GO:0014824 9.65 MKKS BBS2
31 response to leptin GO:0044321 9.65 MKKS BBS2
32 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.65 MKKS BBS4 BBS2
33 microtubule anchoring at centrosome GO:0034454 9.64 KIF3A BBS4
34 leptin-mediated signaling pathway GO:0033210 9.64 MKKS BBS2
35 sensory processing GO:0050893 9.61 TTC8 BBS4
36 pigment granule aggregation in cell center GO:0051877 9.59 MKKS BBS7
37 cell projection organization GO:0030030 9.44 TTC8 SDCCAG8 MKS1 KIF3A IFT88 CEP290

Molecular functions related to Bardet-Biedl Syndrome 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.96 TTC8 SDCCAG8 MKS1 MKKS LZTFL1 KIF3A
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.23 TTC8 MKKS BBS7 BBS5 BBS4 BBS2

Sources for Bardet-Biedl Syndrome 6

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
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