MCID: BRD018
MIFTS: 41

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 54 12 50 71 29 14 69
Bbs6 12 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
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 mkks-related bardet-biedl syndrome and glycogen storage disease ix, and has symptoms including hypospadias, intellectual disability and syndactyly. 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 behavior/neurological

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on bardet-biedl syndrome.

OMIM : 54
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)

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

Related Diseases for Bardet-Biedl Syndrome 6

Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 16 Bardet-Biedl Syndrome 15
Bardet-Biedl Syndrome 5 Bardet-Biedl Syndrome 17
Bardet-Biedl Syndrome 3 Bardet-Biedl Syndrome 7
Bardet-Biedl Syndrome 12 Bardet-Biedl Syndrome 9
Bardet-Biedl Syndrome 21 Bardet-Biedl Syndrome 20
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 14 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 6
Bardet-Biedl Syndrome 19 Arl6-Related Bardet-Biedl Syndrome
Bbip1-Related Bardet-Biedl Syndrome Bbs1-Related Bardet-Biedl Syndrome
Bbs10-Related Bardet-Biedl Syndrome Bbs12-Related Bardet-Biedl Syndrome
Bbs2-Related Bardet-Biedl Syndrome Bbs4-Related Bardet-Biedl Syndrome
Bbs5-Related Bardet-Biedl Syndrome Bbs7-Related Bardet-Biedl Syndrome
Bbs9-Related Bardet-Biedl Syndrome Cep290-Related Bardet-Biedl Syndrome
Ift27-Related Bardet-Biedl Syndrome Mkks-Related Bardet-Biedl Syndrome
Mks1-Related Bardet-Biedl Syndrome Sdccag8-Related Bardet-Biedl Syndrome
Trim32-Related Bardet-Biedl Syndrome Ttc8-Related Bardet-Biedl Syndrome
Wdpcp-Related Bardet-Biedl Syndrome

Diseases related to Bardet-Biedl Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
id Related Disease Score Top Affiliating Genes
1 mkks-related bardet-biedl syndrome 10.8
2 glycogen storage disease ix 9.7 BBS1 BBS7
3 otof-related deafness 9.6 BBS1 BBS2
4 corneal dystrophy, congenital stromal 9.5 BBS1 BBS2
5 alstrom syndrome 9.4 BBS1 BBS2
6 mental retardation, autosomal recessive 55 9.4 BBS2 BBS4
7 acrodermatitis chronica atrophicans 9.4 BBS1 BBS7
8 bardet-biedl syndrome 15 9.3 BBS2 BBS4 MKKS
9 retinitis pigmentosa 55 9.1 BBS1 BBS2 BBS4
10 macrocephaly, dysmorphic facies, and psychomotor retardation 9.1 BBS1 BBS2 BBS4
11 joubert syndrome 28 9.1 BBS1 BBS2 BBS4
12 hypothyroidism, congenital nongoitrous, 5 8.8 BBS2 BBS4 BBS7 MKKS
13 horner's syndrome 8.7 BBS1 BBS2 BBS4 MKKS
14 impetigo 8.7 BBS1 BBS2 BBS4 MKKS
15 retinitis pigmentosa 51 8.7 BBS1 BBS2 BBS4 BBS7
16 cardiomyopathy, dilated, 1dd 8.7 BBS1 BBS2 BBS4 BBS7
17 macular dystrophy, patterned, 3 8.7 BBS1 BBS2 BBS4 BBS7
18 scar contracture 8.5 BBS1 BBS2 BBS4 MKKS
19 epileptic encephalopathy, early infantile, 12 8.3 BBS1 BBS2 BBS4 BBS7 MKKS
20 celiac disease 6 8.3 BBS1 BBS2 BBS4 BBS7 MKKS
21 deafness, autosomal recessive 84a 8.3 BBS1 BBS2 BBS4 BBS7 MKKS
22 ataxia-telangiectasia-like disorder 2 8.2 BBS1 BBS2 BBS4 BBS7 MKKS
23 retinitis pigmentosa 74 8.2 BBS1 BBS2 BBS4 BBS7 MKKS
24 lipodystrophy, congenital generalized, type 2 8.2 BBS1 BBS2 BBS4 BBS7 MKKS
25 congenital heart defects, multiple types, 3 8.2 BBS1 BBS2 BBS4 BBS7 MKKS
26 trichomoniasis 8.2 BBS1 BBS2 BBS4 BBS7 MKKS
27 von hippel-lindau syndrome 8.1 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:

54

Neurologic- Central Nervous System:
mental retardation
learning disabilities

Head And Neck- Eyes:
retinitis pigmentosa
retinal dystrophy

Skeletal- Feet:
syndactyly

Growth- Weight:
obesity

Genitourinary- External Genitalia Male:
hypospadias
hypogenitalism

Genitourinary- Kidneys:
cystic kidneys
structural renal abnormalities
lobulated kidneys

Endocrine Features:
diabetes mellitus

Skeletal- Hands:
polydactyly


Clinical features from OMIM:

605231

Human phenotypes related to Bardet-Biedl Syndrome 6:

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

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

26
id 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:

44 (show all 12)
id 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 BBS7 MKKS BBS1 BBS2 BBS4
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:

id Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 6 29

Anatomical Context for Bardet-Biedl Syndrome 6

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

39
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:

71 (show all 22)
id 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

ClinVar genetic disease variations for Bardet-Biedl Syndrome 6:

6
id 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:

id 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)
id 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)
id 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 cell projection organization GO:0030030 9.84 BBS1 BBS2 BBS4 BBS7
5 negative regulation of gene expression GO:0010629 9.81 BBS2 BBS4 MKKS
6 cerebral cortex development GO:0021987 9.77 BBS2 BBS4 MKKS
7 hippocampus development GO:0021766 9.77 BBS2 BBS4 MKKS
8 protein localization GO:0008104 9.76 BBS2 BBS4 BBS7
9 heart looping GO:0001947 9.75 BBS4 BBS7 MKKS
10 positive regulation of multicellular organism growth GO:0040018 9.73 BBS2 BBS4 MKKS
11 fat cell differentiation GO:0045444 9.73 BBS2 BBS4 BBS7 MKKS
12 intracellular transport GO:0046907 9.72 BBS4 BBS7 MKKS
13 visual perception GO:0007601 9.72 BBS1 BBS2 BBS4 BBS7 MKKS
14 brain morphogenesis GO:0048854 9.69 BBS2 BBS4 MKKS
15 spermatid development GO:0007286 9.68 BBS4 MKKS
16 cartilage development GO:0051216 9.68 BBS2 MKKS
17 determination of left/right symmetry GO:0007368 9.67 BBS7 MKKS
18 sensory perception of smell GO:0007608 9.67 BBS4 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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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