MCID: BRD018
MIFTS: 43

Bardet-Biedl Syndrome 6

Categories: Genetic diseases, Rare diseases, Fetal diseases, Endocrine diseases, Reproductive diseases, Nephrological diseases, Gastrointestinal diseases, Eye diseases

Aliases & Classifications for Bardet-Biedl Syndrome 6

MalaCards integrated aliases for Bardet-Biedl Syndrome 6:

Name: Bardet-Biedl Syndrome 6 53 12 49 71 28 14 69
Bbs6 53 12 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
bardet-biedl syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 6

UniProtKB/Swiss-Prot : 71 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 10 and bardet-biedl syndrome 12, and has symptoms including obesity, diabetes mellitus and intellectual disability. An important gene associated with Bardet-Biedl Syndrome 6 is MKKS (McKusick-Kaufman Syndrome), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include kidney and heart, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

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

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Bardet-Biedl syndrome.

OMIM : 53 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)

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 all 28)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 10 27.8 BBS1 BBS2 BBS4 BBS7 MKKS
2 bardet-biedl syndrome 12 27.8 BBS1 BBS2 BBS4 BBS7 MKKS
3 bardet-biedl syndrome 2 27.8 BBS1 BBS2 BBS4 BBS7 MKKS
4 cataract 40 9.9
5 heart disease 9.9
6 cataract, total congenital 9.9
7 ciliopathy 9.7 BBS1 BBS7
8 nonsyndromic retinitis pigmentosa 9.6 BBS1 BBS2
9 bardet-biedl syndrome 14 9.6 BBS1 BBS2
10 hydrolethalus syndrome 1 9.6 BBS2 BBS4
11 alstrom syndrome 9.6 BBS1 BBS2
12 asphyxiating thoracic dystrophy 9.5 BBS1 BBS7
13 bardet-biedl syndrome 15 9.4 BBS2 BBS4 MKKS
14 bardet-biedl syndrome 3 9.3 BBS1 BBS2 BBS4
15 bardet-biedl syndrome 4 9.3 BBS1 BBS2 BBS4
16 bardet-biedl syndrome 13 9.3 BBS1 BBS2 BBS4
17 fundus dystrophy 9.0 BBS1 BBS2 BBS4 MKKS
18 bardet-biedl syndrome 8 9.0 BBS1 BBS2 BBS4 BBS7
19 bardet-biedl syndrome 18 9.0 BBS1 BBS2 BBS4 BBS7
20 bardet-biedl syndrome 17 9.0 BBS1 BBS2 BBS4 BBS7
21 body mass index quantitative trait locus 11 8.9 BBS1 BBS2 BBS4 MKKS
22 retinitis pigmentosa 8.9 BBS1 BBS2 BBS4 MKKS
23 mckusick-kaufman syndrome 8.7 BBS1 BBS2 BBS4 BBS7 MKKS
24 bardet-biedl syndrome 1 8.7 BBS1 BBS2 BBS4 BBS7 MKKS
25 bardet-biedl syndrome 11 8.6 BBS1 BBS2 BBS4 BBS7 MKKS
26 polydactyly 8.6 BBS1 BBS2 BBS4 BBS7 MKKS
27 tetralogy of fallot 8.6 BBS1 BBS2 BBS4 BBS7 MKKS
28 bardet-biedl syndrome 8.6 BBS1 BBS2 BBS4 BBS7 MKKS

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

Symptoms via clinical synopsis from OMIM:

53
Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypospadias
hypogenitalism

Skeletal Feet:
syndactyly

Neurologic Central Nervous System:
mental retardation
learning disabilities

Endocrine Features:
diabetes mellitus

Head And Neck Eyes:
retinal dystrophy
retinitis pigmentosa

Skeletal Hands:
polydactyly

Genitourinary Kidneys:
cystic kidneys
structural renal abnormalities
lobulated kidneys


Clinical features from OMIM:

605231

Human phenotypes related to Bardet-Biedl Syndrome 6:

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

GenomeRNAi Phenotypes related to Bardet-Biedl Syndrome 6 according to GeneCards Suite gene sharing:

25
# 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 6:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 BBS1 BBS2 BBS4 BBS7 MKKS
2 cellular MP:0005384 9.89 MKKS BBS1 BBS2 BBS4 BBS7
3 growth/size/body region MP:0005378 9.85 BBS1 BBS2 BBS4 BBS7 MKKS
4 homeostasis/metabolism MP:0005376 9.8 BBS1 BBS2 BBS4 BBS7 MKKS
5 craniofacial MP:0005382 9.78 BBS1 BBS4 BBS7 MKKS
6 nervous system MP:0003631 9.72 BBS1 BBS2 BBS4 BBS7 MKKS
7 limbs/digits/tail MP:0005371 9.67 BBS1 BBS2 BBS7 MKKS
8 hearing/vestibular/ear MP:0005377 9.61 BBS1 BBS4 MKKS
9 renal/urinary system MP:0005367 9.56 BBS1 BBS2 BBS4 BBS7
10 reproductive system MP:0005389 9.55 BBS4 BBS7 MKKS BBS1 BBS2
11 taste/olfaction MP:0005394 9.35 BBS1 BBS2 BBS4 BBS7 MKKS
12 vision/eye MP:0005391 9.02 BBS1 BBS2 BBS4 BBS7 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 28 MKKS

Anatomical Context for Bardet-Biedl Syndrome 6

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

38
Kidney, Heart

Publications for Bardet-Biedl Syndrome 6

Articles related to Bardet-Biedl Syndrome 6:

# Title Authors Year
1
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein. ( 28753627 )
2017
2
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. ( 20080638 )
2010
3
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. ( 12837689 )
2003
4
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. ( 11179009 )
2001

Variations for Bardet-Biedl Syndrome 6

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

71 (show all 22)
# 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.Ile339Val VAR_017041 rs137853909
13 MKKS p.Gly345Glu VAR_017042 rs779116830
14 MKKS p.Ala181Pro VAR_038898
15 MKKS p.Thr237Ala VAR_038899 rs760185677
16 MKKS p.Thr237Pro VAR_038900
17 MKKS p.Ser460Pro VAR_038902
18 MKKS p.Asp492Asn VAR_038903 rs142327258
19 MKKS p.Gly41Arg VAR_066262 rs766132697
20 MKKS p.Cys99Arg VAR_066263
21 MKKS p.Pro299Leu VAR_066264 rs756083063
22 MKKS p.His395Arg VAR_077208 rs912923677

ClinVar genetic disease variations for Bardet-Biedl Syndrome 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MKKS NM_170784.2(MKKS): c.110A> G (p.Tyr37Cys) single nucleotide variant Pathogenic rs74315396 GRCh37 Chromosome 20, 10394053: 10394053
2 MKKS NM_170784.2(MKKS): c.155G> A (p.Gly52Asp) single nucleotide variant Pathogenic rs28937875 GRCh37 Chromosome 20, 10394008: 10394008
3 MKKS NM_170784.2(MKKS): c.792T> A (p.Tyr264Ter) single nucleotide variant Pathogenic rs74315397 GRCh37 Chromosome 20, 10393371: 10393371
4 MKKS NM_170784.2(MKKS): c.281delT (p.Phe94Serfs) deletion Pathogenic rs587777827 GRCh38 Chromosome 20, 10413234: 10413234
5 MKKS MKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AG deletion Pathogenic
6 MKKS NM_170784.2(MKKS): c.169A> G (p.Thr57Ala) single nucleotide variant Pathogenic rs74315399 GRCh37 Chromosome 20, 10393994: 10393994

Expression for Bardet-Biedl Syndrome 6

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

Pathways for Bardet-Biedl Syndrome 6

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 BBS1 BBS2 BBS4 BBS7 MKKS
2
Show member pathways
11.05 BBS1 BBS2 BBS4 BBS7 MKKS

GO Terms for Bardet-Biedl Syndrome 6

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.91 BBS1 BBS2 BBS4 BBS7 MKKS
2 cytoskeleton GO:0005856 9.77 BBS1 BBS2 BBS4 BBS7 MKKS
3 cell projection GO:0042995 9.76 BBS1 BBS2 BBS4 BBS7
4 centrosome GO:0005813 9.73 BBS1 BBS4 BBS7 MKKS
5 microtubule organizing center GO:0005815 9.65 BBS1 BBS2 BBS4 BBS7 MKKS
6 cilium GO:0005929 9.62 BBS1 BBS2 BBS4 BBS7
7 motile cilium GO:0031514 9.58 BBS2 BBS4 MKKS
8 axoneme GO:0005930 9.49 BBS1 BBS7
9 photoreceptor outer segment GO:0001750 9.48 BBS4 BBS7
10 ciliary membrane GO:0060170 9.46 BBS1 BBS2 BBS4 BBS7
11 ciliary basal body GO:0036064 9.35 BBS1 BBS2 BBS4 BBS7 MKKS
12 BBSome GO:0034464 8.92 BBS1 BBS2 BBS4 BBS7

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.98 BBS1 BBS2 BBS4 BBS7
2 response to stimulus GO:0050896 9.92 BBS1 BBS2 BBS4 BBS7 MKKS
3 protein transport GO:0015031 9.91 BBS1 BBS2 BBS4 BBS7
4 sensory perception of smell GO:0007608 9.85 BBS1 BBS4 MKKS
5 cell projection organization GO:0030030 9.84 BBS1 BBS2 BBS4 BBS7
6 negative regulation of gene expression GO:0010629 9.82 BBS2 BBS4 MKKS
7 protein localization GO:0008104 9.77 BBS2 BBS4 BBS7
8 cerebral cortex development GO:0021987 9.77 BBS2 BBS4 MKKS
9 hippocampus development GO:0021766 9.76 BBS2 BBS4 MKKS
10 heart looping GO:0001947 9.75 BBS4 BBS7 MKKS
11 positive regulation of multicellular organism growth GO:0040018 9.73 BBS2 BBS4 MKKS
12 fat cell differentiation GO:0045444 9.73 BBS2 BBS4 BBS7 MKKS
13 intracellular transport GO:0046907 9.72 BBS4 BBS7 MKKS
14 visual perception GO:0007601 9.72 BBS1 BBS2 BBS4 BBS7 MKKS
15 brain morphogenesis GO:0048854 9.69 BBS2 BBS4 MKKS
16 spermatid development GO:0007286 9.68 BBS4 MKKS
17 cartilage development GO:0051216 9.68 BBS2 MKKS
18 determination of left/right symmetry GO:0007368 9.67 BBS7 MKKS
19 social behavior GO:0035176 9.67 BBS4 MKKS
20 striatum development GO:0021756 9.67 BBS2 BBS4 MKKS
21 negative regulation of GTPase activity GO:0034260 9.66 BBS4 MKKS
22 retina homeostasis GO:0001895 9.66 BBS1 BBS4
23 adult behavior GO:0030534 9.65 BBS2 BBS4
24 Golgi to plasma membrane protein transport GO:0043001 9.65 BBS1 BBS2
25 vasodilation GO:0042311 9.65 BBS2 MKKS
26 response to leptin GO:0044321 9.65 BBS2 BBS4 MKKS
27 cilium assembly GO:0060271 9.65 BBS1 BBS2 BBS4 BBS7 MKKS
28 protein localization to cilium GO:0061512 9.64 BBS1 BBS4
29 face development GO:0060324 9.63 BBS4 MKKS
30 regulation of stress fiber assembly GO:0051492 9.63 BBS4 MKKS
31 leptin-mediated signaling pathway GO:0033210 9.63 BBS2 BBS4 MKKS
32 protein localization to organelle GO:0033365 9.62 BBS2 BBS4
33 negative regulation of actin filament polymerization GO:0030837 9.62 BBS4 MKKS
34 artery smooth muscle contraction GO:0014824 9.61 BBS2 MKKS
35 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.58 BBS2 BBS4 MKKS
36 pigment granule aggregation in cell center GO:0051877 9.57 BBS7 MKKS
37 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.54 BBS2 BBS4 MKKS
38 photoreceptor cell maintenance GO:0045494 9.46 BBS1 BBS2 BBS4 MKKS
39 melanosome transport GO:0032402 9.26 BBS2 BBS4 BBS7 MKKS
40 non-motile cilium assembly GO:1905515 9.02 BBS1 BBS2 BBS4 BBS7 MKKS

Molecular functions related to Bardet-Biedl Syndrome 6 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 BBS7 MKKS

Sources for Bardet-Biedl Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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