BBS8
MCID: BRD020
MIFTS: 45

Bardet-Biedl Syndrome 8 (BBS8)

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 8

MalaCards integrated aliases for Bardet-Biedl Syndrome 8:

Name: Bardet-Biedl Syndrome 8 58 12 54 76 30 6 15 74
Bbs8 58 12 76
Bardet-Biedl Syndrome, Type 8 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
bardet-biedl syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 8

UniProtKB/Swiss-Prot : 76 Bardet-Biedl syndrome 8: 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 8, also known as bbs8, is related to nonsyndromic retinitis pigmentosa and retinitis pigmentosa. An important gene associated with Bardet-Biedl Syndrome 8 is TTC8 (Tetratricopeptide Repeat Domain 8), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include heart, retina and eye, and related phenotypes are situs inversus totalis and renal dysplasia

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the TTC8 gene on chromosome 14q31.

OMIM : 58 BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615985)

Related Diseases for Bardet-Biedl Syndrome 8

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

(showing 29, show less)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic retinitis pigmentosa 29.5 BBS1 BBS2 TTC8
2 retinitis pigmentosa 28.6 BBS1 BBS10 BBS2 BBS4 TTC8
3 bardet-biedl syndrome 28.2 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
4 bardet-biedl syndrome 2 10.3
5 bardet-biedl syndrome 10 10.3
6 bardet-biedl syndrome 11 10.3
7 bardet-biedl syndrome 12 10.3
8 leber congenital amaurosis 4 10.1
9 retinitis pigmentosa 51 10.1
10 retinitis 10.1
11 bardet-biedl syndrome 7 10.0
12 bardet-biedl syndrome 5 9.9 BBS2 BBS5
13 bardet-biedl syndrome 19 9.9 BBS10 BBS2
14 bardet-biedl syndrome 15 9.9 BBS2 BBS4
15 hydrolethalus syndrome 1 9.8 BBS2 BBS4
16 alstrom syndrome 9.7 BBS1 BBS2
17 meckel syndrome, type 1 9.5 BBS1 BBS4
18 bardet-biedl syndrome 14 9.4 BBS1 BBS10 BBS2
19 bardet-biedl syndrome 4 9.4 BBS1 BBS2 BBS4
20 body mass index quantitative trait locus 11 9.3 BBS1 BBS2 BBS4
21 mckusick-kaufman syndrome 9.3 BBS1 BBS2 BBS4 BBS7
22 bardet-biedl syndrome 17 9.2 BBS1 BBS2 BBS4 BBS7
23 bardet-biedl syndrome 13 9.2 BBS1 BBS10 BBS2 BBS4
24 bardet-biedl syndrome 18 9.0 BBS1 BBS2 BBS4 BBS7 TTC8
25 bardet-biedl syndrome 3 9.0 BBS1 BBS2 BBS4 BBS5 BBS7
26 bardet-biedl syndrome 6 9.0 BBS1 BBS10 BBS2 BBS4 BBS7
27 bardet-biedl syndrome 1 9.0 BBS1 BBS10 BBS2 BBS4 BBS7
28 fundus dystrophy 8.9 BBS1 BBS10 BBS2 BBS4 BBS5
29 polydactyly 8.7 BBS1 BBS10 BBS2 BBS4 BBS7 TTC8

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 8:



Diseases related to Bardet-Biedl Syndrome 8

Symptoms & Phenotypes for Bardet-Biedl Syndrome 8

Human phenotypes related to Bardet-Biedl Syndrome 8:

33 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 33 occasional (7.5%) HP:0001696
2 renal dysplasia 33 occasional (7.5%) HP:0000110
3 obesity 33 HP:0001513
4 intellectual disability 33 HP:0001249
5 global developmental delay 33 HP:0001263
6 cognitive impairment 33 HP:0100543
7 brachycephaly 33 HP:0000248
8 hypogonadism 33 HP:0000135
9 hypospadias 33 HP:0000047
10 rod-cone dystrophy 33 HP:0000510
11 polydactyly 33 HP:0010442

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Head And Neck Head:
brachycephaly

Skeletal Hands:
polydactyly

Head And Neck Eyes:
retinitis pigmentosa

Genitourinary Kidneys:
renal dysplasia (in some patients)

Neurologic Central Nervous System:
cognitive impairment
mental retardation
delayed development

Genitourinary External Genitalia Male:
hypogonadism
hypospadias

Skeletal Feet:
polydactyly

Abdomen:
situs inversus (in some patients)

Clinical features from OMIM:

615985

GenomeRNAi Phenotypes related to Bardet-Biedl Syndrome 8 according to GeneCards Suite gene sharing:

27 (showing 6, show less)
# 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 8:

47 (showing 11, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.95 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
2 growth/size/body region MP:0005378 9.95 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
3 cellular MP:0005384 9.93 BBS1 BBS10 BBS2 BBS4 BBS7 TTC8
4 adipose tissue MP:0005375 9.89 BBS1 BBS10 BBS2 BBS4 BBS5
5 homeostasis/metabolism MP:0005376 9.85 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
6 craniofacial MP:0005382 9.73 BBS1 BBS4 BBS7 TTC8
7 nervous system MP:0003631 9.73 BBS1 BBS10 BBS2 BBS4 BBS7 TTC8
8 renal/urinary system MP:0005367 9.63 BBS1 BBS10 BBS2 BBS4 BBS7 TTC8
9 limbs/digits/tail MP:0005371 9.62 BBS1 BBS2 BBS5 BBS7
10 taste/olfaction MP:0005394 9.35 BBS1 BBS2 BBS4 BBS7 TTC8
11 vision/eye MP:0005391 9.1 BBS1 BBS10 BBS2 BBS4 BBS7 TTC8

Drugs & Therapeutics for Bardet-Biedl Syndrome 8

Interventional clinical trials:

(showing 1, show less)
# Name Status NCT ID Phase Drugs
1 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811

Search NIH Clinical Center for Bardet-Biedl Syndrome 8

Genetic Tests for Bardet-Biedl Syndrome 8

Genetic tests related to Bardet-Biedl Syndrome 8:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 8 30 TTC8

Anatomical Context for Bardet-Biedl Syndrome 8

MalaCards organs/tissues related to Bardet-Biedl Syndrome 8:

42
Heart, Retina, Eye

Publications for Bardet-Biedl Syndrome 8

Articles related to Bardet-Biedl Syndrome 8:

(showing 9, show less)
# Title Authors Year
1
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. ( 29126234 )
2018
2
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. ( 25776555 )
2015
3
Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea. ( 25605782 )
2015
4
Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. ( 21646512 )
2011
5
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. ( 20451172 )
2010
6
Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. ( 20643117 )
2010
7
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. ( 19402160 )
2009
8
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. ( 16308660 )
2006
9
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. ( 14520415 )
2003

Variations for Bardet-Biedl Syndrome 8

ClinVar genetic disease variations for Bardet-Biedl Syndrome 8:

6 (showing 12, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTC8 NM_144596.3(TTC8): c.589_594delGAGTAT (p.Glu197_Tyr198del) deletion Pathogenic rs587777806 GRCh38 Chromosome 14, 88843815: 88843820
2 TTC8 NM_144596.3(TTC8): c.589_594delGAGTAT (p.Glu197_Tyr198del) deletion Pathogenic rs587777806 GRCh37 Chromosome 14, 89310159: 89310164
3 TTC8 NM_198309.3(TTC8): c.1019+2_1019+4delTGC deletion Pathogenic rs587777807 GRCh38 Chromosome 14, 88870200: 88870202
4 TTC8 NM_198309.3(TTC8): c.1019+2_1019+4delTGC deletion Pathogenic rs587777807 GRCh37 Chromosome 14, 89336544: 89336546
5 TTC8 NM_198309.3(TTC8): c.459G> A (p.Thr153=) single nucleotide variant Conflicting interpretations of pathogenicity rs119103286 GRCh37 Chromosome 14, 89307540: 89307540
6 TTC8 NM_198309.3(TTC8): c.459G> A (p.Thr153=) single nucleotide variant Conflicting interpretations of pathogenicity rs119103286 GRCh38 Chromosome 14, 88841196: 88841196
7 TTC8 NM_144596.3(TTC8): c.624+1G> A single nucleotide variant Pathogenic rs587777808 GRCh38 Chromosome 14, 88843851: 88843851
8 TTC8 NM_144596.3(TTC8): c.624+1G> A single nucleotide variant Pathogenic rs587777808 GRCh37 Chromosome 14, 89310195: 89310195
9 TTC8 NM_198309.3(TTC8): c.1021C> T (p.Arg341Trp) single nucleotide variant Uncertain significance rs755412340 GRCh38 Chromosome 14, 88871550: 88871550
10 TTC8 NM_198309.3(TTC8): c.1021C> T (p.Arg341Trp) single nucleotide variant Uncertain significance rs755412340 GRCh37 Chromosome 14, 89337894: 89337894
11 TTC8 NM_198309.3(TTC8): c.1297C> T (p.Arg433Trp) single nucleotide variant Uncertain significance rs140698625 GRCh37 Chromosome 14, 89338776: 89338776
12 TTC8 NM_198309.3(TTC8): c.1297C> T (p.Arg433Trp) single nucleotide variant Uncertain significance rs140698625 GRCh38 Chromosome 14, 88872432: 88872432

Expression for Bardet-Biedl Syndrome 8

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 8.

Pathways for Bardet-Biedl Syndrome 8

Pathways related to Bardet-Biedl Syndrome 8 according to GeneCards Suite gene sharing:

(showing 2, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
2
Show member pathways
11.2 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7

GO Terms for Bardet-Biedl Syndrome 8

Cellular components related to Bardet-Biedl Syndrome 8 according to GeneCards Suite gene sharing:

(showing 15, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.88 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8
2 cell projection GO:0042995 9.87 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
3 microtubule organizing center GO:0005815 9.85 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8
4 centrosome GO:0005813 9.76 BBS1 BBS4 BBS7 TTC8
5 ciliary basal body GO:0036064 9.73 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8
6 cilium GO:0005929 9.7 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
7 axoneme GO:0005930 9.61 BBS1 BBS5 BBS7
8 photoreceptor outer segment GO:0001750 9.52 BBS4 BBS7
9 photoreceptor connecting cilium GO:0032391 9.51 BBS4 TTC8
10 non-motile cilium GO:0097730 9.49 BBS4 TTC8
11 centriolar satellite GO:0034451 9.48 BBS4 BBS5
12 ciliary membrane GO:0060170 9.43 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8
13 BBSome GO:0034464 9.1 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8
14 cytosol GO:0005829 10.02 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8
15 plasma membrane GO:0005886 10.01 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8

Biological processes related to Bardet-Biedl Syndrome 8 according to GeneCards Suite gene sharing:

(showing 29, show less)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.91 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8
2 response to stimulus GO:0050896 9.88 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
3 sensory perception of smell GO:0007608 9.81 BBS1 BBS4 TTC8
4 fat cell differentiation GO:0045444 9.76 BBS2 BBS4 BBS7 TTC8
5 visual perception GO:0007601 9.73 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
6 protein localization GO:0008104 9.71 BBS2 BBS4 BBS7
7 heart looping GO:0001947 9.69 BBS4 BBS5 BBS7
8 photoreceptor cell maintenance GO:0045494 9.67 BBS1 BBS10 BBS2 BBS4
9 retina homeostasis GO:0001895 9.65 BBS1 BBS10 BBS4
10 cerebral cortex development GO:0021987 9.64 BBS2 BBS4
11 hippocampus development GO:0021766 9.63 BBS2 BBS4
12 negative regulation of GTPase activity GO:0034260 9.63 BBS4 TTC8
13 cilium assembly GO:0060271 9.63 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8
14 positive regulation of multicellular organism growth GO:0040018 9.62 BBS2 BBS4
15 adult behavior GO:0030534 9.62 BBS2 BBS4
16 melanosome transport GO:0032402 9.62 BBS2 BBS4 BBS5 BBS7
17 Golgi to plasma membrane protein transport GO:0043001 9.61 BBS1 BBS2
18 protein localization to cilium GO:0061512 9.61 BBS1 BBS4
19 brain morphogenesis GO:0048854 9.6 BBS2 BBS4
20 protein localization to organelle GO:0033365 9.59 BBS2 BBS4
21 regulation of stress fiber assembly GO:0051492 9.58 BBS4 TTC8
22 striatum development GO:0021756 9.58 BBS2 BBS4
23 response to leptin GO:0044321 9.57 BBS2 BBS4
24 leptin-mediated signaling pathway GO:0033210 9.56 BBS2 BBS4
25 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.55 BBS2 BBS4
26 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.52 BBS2 BBS4
27 sensory processing GO:0050893 9.49 BBS4 TTC8
28 cell projection organization GO:0030030 9.43 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8
29 non-motile cilium assembly GO:1905515 9.1 BBS1 BBS10 BBS2 BBS4 BBS7 TTC8

Molecular functions related to Bardet-Biedl Syndrome 8 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 9.17 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7

Sources for Bardet-Biedl Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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