BBS6
MCID: BRD018
MIFTS: 41

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 53 75 29 6 15 73
Bbs6 57 12 75
Bardet-Biedl Syndrome, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
bardet-biedl syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 6

UniProtKB/Swiss-Prot : 75 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 heart disease and bardet-biedl syndrome 19. 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, heart and eye, and related phenotypes are obesity 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)

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 23)
# Related Disease Score Top Affiliating Genes
1 heart disease 10.1
2 bardet-biedl syndrome 19 9.9 BBS10 BBS2
3 bardet-biedl syndrome 2 9.8 BBS2 MKKS
4 nonsyndromic retinitis pigmentosa 9.8 BBS1 BBS2
5 alstrom syndrome 9.8 BBS1 BBS2
6 hydrolethalus syndrome 1 9.8 BBS2 BBS4
7 meckel syndrome, type 1 9.8 BBS1 BBS4
8 bardet-biedl syndrome 15 9.7 BBS2 BBS4 MKKS
9 bardet-biedl syndrome 14 9.7 BBS1 BBS10 BBS2
10 bardet-biedl syndrome 4 9.6 BBS1 BBS2 BBS4
11 tetralogy of fallot 9.5 BBS2 BBS4 BBS7 MKKS
12 bardet-biedl syndrome 13 9.5 BBS1 BBS10 BBS2 BBS4
13 bardet-biedl syndrome 3 9.5 BBS1 BBS2 BBS4 BBS7
14 bardet-biedl syndrome 18 9.5 BBS1 BBS2 BBS4 BBS7
15 bardet-biedl syndrome 17 9.5 BBS1 BBS2 BBS4 BBS7
16 body mass index quantitative trait locus 11 9.5 BBS1 BBS2 BBS4 MKKS
17 fundus dystrophy 9.3 BBS1 BBS10 BBS2 BBS4 MKKS
18 mckusick-kaufman syndrome 9.3 BBS1 BBS2 BBS4 BBS7 MKKS
19 bardet-biedl syndrome 8 9.3 BBS1 BBS10 BBS2 BBS4 BBS7
20 retinitis pigmentosa 9.3 BBS1 BBS10 BBS2 BBS4 MKKS
21 bardet-biedl syndrome 1 9.2 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
22 bardet-biedl syndrome 9.2 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
23 polydactyly 9.2 BBS1 BBS10 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:

57
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:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 diabetes mellitus 32 HP:0000819
3 intellectual disability 32 HP:0001249
4 hypospadias 32 HP:0000047
5 rod-cone dystrophy 32 HP:0000510
6 renal cyst 32 HP:0000107
7 syndactyly 32 HP:0001159
8 external genital hypoplasia 32 HP:0003241
9 polydactyly 32 HP:0010442

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

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

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 6:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
2 cellular MP:0005384 9.95 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
3 growth/size/body region MP:0005378 9.91 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
4 homeostasis/metabolism MP:0005376 9.88 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
5 adipose tissue MP:0005375 9.81 BBS1 BBS10 BBS2 BBS4
6 nervous system MP:0003631 9.8 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
7 craniofacial MP:0005382 9.76 BBS1 BBS4 BBS7 MKKS
8 limbs/digits/tail MP:0005371 9.67 BBS1 BBS2 BBS7 MKKS
9 renal/urinary system MP:0005367 9.65 BBS1 BBS10 BBS2 BBS4 BBS7
10 reproductive system MP:0005389 9.55 BBS1 BBS2 BBS4 BBS7 MKKS
11 taste/olfaction MP:0005394 9.35 BBS1 BBS2 BBS4 BBS7 MKKS
12 vision/eye MP:0005391 9.1 BBS1 BBS10 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 29 MKKS

Anatomical Context for Bardet-Biedl Syndrome 6

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

41
Kidney, Heart, Eye

Publications for Bardet-Biedl Syndrome 6

Variations for Bardet-Biedl Syndrome 6

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

75 (show all 21)
# 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.Asp492Asn VAR_038903 rs142327258
18 MKKS p.Gly41Arg VAR_066262 rs766132697
19 MKKS p.Cys99Arg VAR_066263
20 MKKS p.Pro299Leu VAR_066264 rs756083063
21 MKKS p.His395Arg VAR_077208 rs912923677

ClinVar genetic disease variations for Bardet-Biedl Syndrome 6:

6 (show all 19)
# 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.110A> G (p.Tyr37Cys) single nucleotide variant Pathogenic rs74315396 GRCh38 Chromosome 20, 10413405: 10413405
3 MKKS NM_170784.2(MKKS): c.155G> A (p.Gly52Asp) single nucleotide variant Pathogenic rs28937875 GRCh37 Chromosome 20, 10394008: 10394008
4 MKKS NM_170784.2(MKKS): c.155G> A (p.Gly52Asp) single nucleotide variant Pathogenic rs28937875 GRCh38 Chromosome 20, 10413360: 10413360
5 MKKS NM_170784.2(MKKS): c.792T> A (p.Tyr264Ter) single nucleotide variant Pathogenic rs74315397 GRCh37 Chromosome 20, 10393371: 10393371
6 MKKS NM_170784.2(MKKS): c.792T> A (p.Tyr264Ter) single nucleotide variant Pathogenic rs74315397 GRCh38 Chromosome 20, 10412723: 10412723
7 MKKS NM_170784.2(MKKS): c.281delT (p.Phe94Serfs) deletion Pathogenic rs587777827 GRCh38 Chromosome 20, 10413234: 10413234
8 MKKS NM_170784.2(MKKS): c.281delT (p.Phe94Serfs) deletion Pathogenic rs587777827 GRCh37 Chromosome 20, 10393882: 10393882
9 MKKS NM_018848.3(MKKS): c.830T> C (p.Leu277Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs74315398 GRCh37 Chromosome 20, 10393333: 10393333
10 MKKS NM_018848.3(MKKS): c.830T> C (p.Leu277Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs74315398 GRCh38 Chromosome 20, 10412685: 10412685
11 MKKS MKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AG deletion Pathogenic
12 MKKS NM_170784.2(MKKS): c.169A> G (p.Thr57Ala) single nucleotide variant Pathogenic rs74315399 GRCh37 Chromosome 20, 10393994: 10393994
13 MKKS NM_170784.2(MKKS): c.169A> G (p.Thr57Ala) single nucleotide variant Pathogenic rs74315399 GRCh38 Chromosome 20, 10413346: 10413346
14 MKKS NM_018848.3(MKKS): c.1015A> G (p.Ile339Val) single nucleotide variant Conflicting interpretations of pathogenicity rs137853909 GRCh37 Chromosome 20, 10389422: 10389422
15 MKKS NM_018848.3(MKKS): c.1015A> G (p.Ile339Val) single nucleotide variant Conflicting interpretations of pathogenicity rs137853909 GRCh38 Chromosome 20, 10408774: 10408774
16 MKKS NM_018848.3(MKKS): c.613A> T (p.Lys205Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 10412902: 10412902
17 MKKS NM_018848.3(MKKS): c.613A> T (p.Lys205Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 10393550: 10393550
18 MKKS NM_170784.2(MKKS): c.119C> G (p.Ser40Ter) single nucleotide variant Likely pathogenic rs753338844 GRCh38 Chromosome 20, 10413396: 10413396
19 MKKS NM_170784.2(MKKS): c.119C> G (p.Ser40Ter) single nucleotide variant Likely pathogenic rs753338844 GRCh37 Chromosome 20, 10394044: 10394044

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
12.16 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
2
Show member pathways
11.13 BBS1 BBS10 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 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.8 BBS1 BBS2 BBS4 BBS7 MKKS
2 cell projection GO:0042995 9.77 BBS1 BBS10 BBS2 BBS4 BBS7
3 centrosome GO:0005813 9.73 BBS1 BBS4 BBS7 MKKS
4 microtubule organizing center GO:0005815 9.72 BBS1 BBS2 BBS4 BBS7 MKKS
5 cilium GO:0005929 9.65 BBS1 BBS10 BBS2 BBS4 BBS7
6 motile cilium GO:0031514 9.63 BBS2 BBS4 MKKS
7 axoneme GO:0005930 9.49 BBS1 BBS7
8 photoreceptor outer segment GO:0001750 9.48 BBS4 BBS7
9 ciliary membrane GO:0060170 9.46 BBS1 BBS2 BBS4 BBS7
10 ciliary basal body GO:0036064 9.35 BBS1 BBS2 BBS4 BBS7 MKKS
11 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 protein transport GO:0015031 9.92 BBS1 BBS2 BBS4 BBS7
2 sensory perception of smell GO:0007608 9.85 BBS1 BBS4 MKKS
3 response to stimulus GO:0050896 9.85 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
4 cell projection organization GO:0030030 9.84 BBS1 BBS2 BBS4 BBS7
5 negative regulation of gene expression GO:0010629 9.83 BBS2 BBS4 MKKS
6 cilium assembly GO:0060271 9.8 BBS1 BBS2 BBS4 BBS7 MKKS
7 fat cell differentiation GO:0045444 9.78 BBS2 BBS4 BBS7 MKKS
8 protein localization GO:0008104 9.77 BBS2 BBS4 BBS7
9 cerebral cortex development GO:0021987 9.77 BBS2 BBS4 MKKS
10 hippocampus development GO:0021766 9.76 BBS2 BBS4 MKKS
11 heart looping GO:0001947 9.75 BBS4 BBS7 MKKS
12 retina homeostasis GO:0001895 9.73 BBS1 BBS10 BBS4
13 positive regulation of multicellular organism growth GO:0040018 9.72 BBS2 BBS4 MKKS
14 brain morphogenesis GO:0048854 9.7 BBS2 BBS4 MKKS
15 striatum development GO:0021756 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 9.68 BBS7 MKKS
19 social behavior GO:0035176 9.67 BBS4 MKKS
20 negative regulation of GTPase activity GO:0034260 9.67 BBS4 MKKS
21 response to leptin GO:0044321 9.67 BBS2 BBS4 MKKS
22 adult behavior GO:0030534 9.66 BBS2 BBS4
23 Golgi to plasma membrane protein transport GO:0043001 9.65 BBS1 BBS2
24 intracellular transport GO:0046907 9.65 BBS4 MKKS
25 protein localization to cilium GO:0061512 9.65 BBS1 BBS4
26 vasodilation GO:0042311 9.64 BBS2 MKKS
27 protein localization to organelle GO:0033365 9.64 BBS2 BBS4
28 chaperone-mediated protein complex assembly GO:0051131 9.63 BBS10 MKKS
29 face development GO:0060324 9.63 BBS4 MKKS
30 leptin-mediated signaling pathway GO:0033210 9.63 BBS2 BBS4 MKKS
31 visual perception GO:0007601 9.63 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS
32 negative regulation of actin filament polymerization GO:0030837 9.62 BBS4 MKKS
33 regulation of stress fiber assembly GO:0051492 9.61 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 9.61 BBS2 BBS4 MKKS
36 pigment granule aggregation in cell center GO:0051877 9.57 BBS7 MKKS
37 melanosome transport GO:0032402 9.56 BBS2 BBS4 BBS7 MKKS
38 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.5 BBS2 BBS4 MKKS
39 photoreceptor cell maintenance GO:0045494 9.35 BBS1 BBS10 BBS2 BBS4 MKKS
40 non-motile cilium assembly GO:1905515 9.1 BBS1 BBS10 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 9.1 BBS1 BBS10 BBS2 BBS4 BBS7 MKKS

Sources for Bardet-Biedl Syndrome 6

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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