MCID: BRD018
MIFTS: 39

Bardet-Biedl Syndrome 6

Categories: Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal 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 and heart, and related phenotypes are hypospadias and renal cyst

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 21)
# Related Disease Score Top Affiliating Genes
1 heart disease 10.0
2 bardet-biedl syndrome 19 9.7 BBS10 BBS2
3 bardet-biedl syndrome 2 9.4 BBS2 MKKS
4 nonsyndromic retinitis pigmentosa 9.4 BBS1 BBS2
5 bardet-biedl syndrome 15 9.3 BBS2 BBS4 MKKS
6 alstrom syndrome 9.2 BBS1 BBS2
7 bardet-biedl syndrome 14 9.0 BBS1 BBS10 BBS2
8 bardet-biedl syndrome 3 8.9 BBS1 BBS2 BBS4
9 bardet-biedl syndrome 18 8.9 BBS1 BBS2 BBS4
10 bardet-biedl syndrome 4 8.8 BBS1 BBS2 BBS4
11 bardet-biedl syndrome 17 8.8 BBS1 BBS2 BBS4
12 mckusick-kaufman syndrome 8.5 BBS1 BBS2 BBS4 MKKS
13 polydactyly 8.4 BBS1 BBS2 BBS4 MKKS
14 tetralogy of fallot 8.4 BBS1 BBS2 BBS4 MKKS
15 bardet-biedl syndrome 8 8.4 BBS1 BBS10 BBS2 BBS4
16 bardet-biedl syndrome 13 8.4 BBS1 BBS10 BBS2 BBS4
17 body mass index quantitative trait locus 11 8.2 BBS1 BBS2 BBS4 MKKS
18 bardet-biedl syndrome 1 7.9 BBS1 BBS10 BBS2 BBS4 MKKS
19 fundus dystrophy 7.8 BBS1 BBS10 BBS2 BBS4 MKKS
20 bardet-biedl syndrome 7.8 BBS1 BBS10 BBS2 BBS4 MKKS
21 retinitis pigmentosa 7.6 BBS1 BBS10 BBS2 BBS4 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:
hypogenitalism
hypospadias

Skeletal Hands:
polydactyly

Neurologic Central Nervous System:
learning disabilities
mental retardation

Head And Neck Eyes:
retinitis pigmentosa
retinal dystrophy

Genitourinary Kidneys:
structural renal abnormalities
lobulated kidneys
cystic kidneys

Skeletal Feet:
syndactyly

Endocrine Features:
diabetes mellitus


Clinical features from OMIM:

605231

Human phenotypes related to Bardet-Biedl Syndrome 6:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypospadias 32 HP:0000047
2 renal cyst 32 HP:0000107
3 rod-cone dystrophy 32 HP:0000510
4 diabetes mellitus 32 HP:0000819
5 syndactyly 32 HP:0001159
6 intellectual disability 32 HP:0001249
7 obesity 32 HP:0001513
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 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.88 BBS4 MKKS BBS10 BBS2 BBS1
2 cellular MP:0005384 9.85 BBS1 BBS4 MKKS BBS10 BBS2
3 growth/size/body region MP:0005378 9.83 BBS1 BBS4 MKKS BBS10 BBS2
4 adipose tissue MP:0005375 9.8 BBS10 BBS2 BBS1 BBS4
5 homeostasis/metabolism MP:0005376 9.77 BBS1 BBS4 MKKS BBS10 BBS2
6 nervous system MP:0003631 9.72 BBS1 BBS4 MKKS BBS10 BBS2
7 hearing/vestibular/ear MP:0005377 9.58 BBS1 BBS4 MKKS
8 renal/urinary system MP:0005367 9.56 BBS10 BBS2 BBS1 BBS4
9 reproductive system MP:0005389 9.46 BBS1 BBS4 MKKS BBS2
10 taste/olfaction MP:0005394 9.26 MKKS BBS2 BBS1 BBS4
11 vision/eye MP:0005391 9.02 BBS10 MKKS BBS2 BBS1 BBS4

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

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 13)
# 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 MKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AG deletion Pathogenic
10 MKKS NM_170784.2(MKKS): c.169A> G (p.Thr57Ala) single nucleotide variant Pathogenic rs74315399 GRCh37 Chromosome 20, 10393994: 10393994
11 MKKS NM_170784.2(MKKS): c.169A> G (p.Thr57Ala) single nucleotide variant Pathogenic rs74315399 GRCh38 Chromosome 20, 10413346: 10413346
12 MKKS NM_018848.3(MKKS): c.613A> T (p.Lys205Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 10412902: 10412902
13 MKKS NM_018848.3(MKKS): c.613A> T (p.Lys205Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 10393550: 10393550

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 BBS10 BBS2 BBS4 MKKS
2
Show member pathways
11.05 BBS1 BBS10 BBS2 BBS4 MKKS

GO Terms for Bardet-Biedl Syndrome 6

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.73 BBS1 BBS2 BBS4 MKKS
2 cell projection GO:0042995 9.71 BBS1 BBS10 BBS2 BBS4
3 centrosome GO:0005813 9.63 BBS1 BBS4 MKKS
4 microtubule organizing center GO:0005815 9.62 BBS1 BBS2 BBS4 MKKS
5 cilium GO:0005929 9.56 BBS1 BBS10 BBS2 BBS4
6 motile cilium GO:0031514 9.54 BBS2 BBS4 MKKS
7 ciliary membrane GO:0060170 9.33 BBS1 BBS2 BBS4
8 ciliary basal body GO:0036064 9.26 BBS1 BBS2 BBS4 MKKS
9 BBSome GO:0034464 8.8 BBS1 BBS2 BBS4

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.85 BBS1 BBS2 BBS4
2 response to stimulus GO:0050896 9.85 BBS1 BBS10 BBS2 BBS4 MKKS
3 sensory perception of smell GO:0007608 9.83 BBS1 BBS4 MKKS
4 cilium assembly GO:0060271 9.81 BBS1 BBS2 BBS4 MKKS
5 negative regulation of gene expression GO:0010629 9.8 BBS2 BBS4 MKKS
6 cell projection organization GO:0030030 9.76 BBS1 BBS2 BBS4
7 fat cell differentiation GO:0045444 9.74 BBS2 BBS4 MKKS
8 cerebral cortex development GO:0021987 9.73 BBS2 BBS4 MKKS
9 hippocampus development GO:0021766 9.72 BBS2 BBS4 MKKS
10 retina homeostasis GO:0001895 9.71 BBS1 BBS10 BBS4
11 positive regulation of multicellular organism growth GO:0040018 9.7 BBS2 BBS4 MKKS
12 spermatid development GO:0007286 9.67 BBS4 MKKS
13 protein localization GO:0008104 9.67 BBS2 BBS4
14 cartilage development GO:0051216 9.67 BBS2 MKKS
15 melanosome transport GO:0032402 9.67 BBS2 BBS4 MKKS
16 heart looping GO:0001947 9.66 BBS4 MKKS
17 social behavior GO:0035176 9.65 BBS4 MKKS
18 negative regulation of GTPase activity GO:0034260 9.65 BBS4 MKKS
19 intracellular transport GO:0046907 9.65 BBS4 MKKS
20 brain morphogenesis GO:0048854 9.65 BBS2 BBS4 MKKS
21 Golgi to plasma membrane protein transport GO:0043001 9.64 BBS1 BBS2
22 adult behavior GO:0030534 9.64 BBS2 BBS4
23 protein localization to cilium GO:0061512 9.63 BBS1 BBS4
24 vasodilation GO:0042311 9.62 BBS2 MKKS
25 chaperone-mediated protein complex assembly GO:0051131 9.62 BBS10 MKKS
26 negative regulation of actin filament polymerization GO:0030837 9.61 BBS4 MKKS
27 face development GO:0060324 9.61 BBS4 MKKS
28 striatum development GO:0021756 9.61 BBS2 BBS4 MKKS
29 regulation of stress fiber assembly GO:0051492 9.6 BBS4 MKKS
30 protein localization to organelle GO:0033365 9.59 BBS2 BBS4
31 artery smooth muscle contraction GO:0014824 9.58 BBS2 MKKS
32 response to leptin GO:0044321 9.58 BBS2 BBS4 MKKS
33 visual perception GO:0007601 9.55 BBS1 BBS10 BBS2 BBS4 MKKS
34 leptin-mediated signaling pathway GO:0033210 9.54 BBS2 BBS4 MKKS
35 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.5 BBS2 BBS4 MKKS
36 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.43 BBS2 BBS4 MKKS
37 non-motile cilium assembly GO:1905515 9.35 BBS1 BBS10 BBS2 BBS4 MKKS
38 photoreceptor cell maintenance GO:0045494 9.02 BBS1 BBS10 BBS2 BBS4 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 BBS10 BBS2 BBS4 MKKS

Sources for Bardet-Biedl Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....