BBS8
MCID: BRD020
MIFTS: 44

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 57 12 53 75 29 6 15 73
Bbs8 57 12 75
Bardet-Biedl Syndrome, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
bardet-biedl syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 8

UniProtKB/Swiss-Prot : 75 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 and eye, and related phenotypes are obesity and intellectual disability

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

OMIM : 57 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:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic retinitis pigmentosa 29.9 BBS1 BBS2 TTC8
2 retinitis pigmentosa 29.2 BBS1 BBS10 BBS2 BBS4 TTC8
3 bardet-biedl syndrome 28.8 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS5
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 10.1
10 bardet-biedl syndrome 15 10.0 BBS2 BBS4
11 bardet-biedl syndrome 5 10.0 BBS2 BBS5
12 hydrolethalus syndrome 1 9.9 BBS2 BBS4
13 alstrom syndrome 9.9 BBS1 BBS2
14 tetralogy of fallot 9.9 BBS2 BBS4 BBS7
15 bardet-biedl syndrome 19 9.9 BBS10 BBS2
16 meckel syndrome, type 1 9.8 BBS1 BBS4
17 bardet-biedl syndrome 4 9.8 BBS1 BBS2 BBS4
18 mckusick-kaufman syndrome 9.7 BBS1 BBS2 BBS4 BBS7
19 bardet-biedl syndrome 17 9.7 BBS1 BBS2 BBS4 BBS7
20 body mass index quantitative trait locus 11 9.7 BBS1 BBS2 BBS4
21 bardet-biedl syndrome 14 9.6 BBS1 BBS10 BBS2
22 bardet-biedl syndrome 3 9.5 BBS1 BBS2 BBS4 BBS5 BBS7
23 bardet-biedl syndrome 13 9.5 BBS1 BBS10 BBS2 BBS4
24 bardet-biedl syndrome 6 9.4 BBS1 BBS10 BBS2 BBS4 BBS7
25 bardet-biedl syndrome 18 9.4 BBIP1 BBS1 BBS2 BBS4 BBS7 TTC8
26 fundus dystrophy 9.3 BBS1 BBS10 BBS2 BBS4 BBS5
27 polydactyly 9.3 BBS1 BBS10 BBS2 BBS4 BBS7 TTC8
28 bardet-biedl syndrome 1 9.2 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS7

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Bardet-Biedl Syndrome 8:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 intellectual disability 32 HP:0001249
3 global developmental delay 32 HP:0001263
4 cognitive impairment 32 HP:0100543
5 brachycephaly 32 HP:0000248
6 hypogonadism 32 HP:0000135
7 hypospadias 32 HP:0000047
8 rod-cone dystrophy 32 HP:0000510
9 situs inversus totalis 32 occasional (7.5%) HP:0001696
10 renal dysplasia 32 occasional (7.5%) HP:0000110
11 polydactyly 32 HP:0010442

GenomeRNAi Phenotypes related to Bardet-Biedl Syndrome 8 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 8:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.02 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS5
2 growth/size/body region MP:0005378 10.01 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS5
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 nervous system MP:0003631 9.87 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS7
6 craniofacial MP:0005382 9.73 BBS1 BBS4 BBS7 TTC8
7 renal/urinary system MP:0005367 9.73 BBS1 BBS10 BBS2 BBS4 BBS7 TTC8
8 limbs/digits/tail MP:0005371 9.67 BBS1 BBS2 BBS5 BBS7
9 reproductive system MP:0005389 9.55 BBIP1 BBS1 BBS2 BBS4 BBS7
10 taste/olfaction MP:0005394 9.35 BBS1 BBS2 BBS4 BBS7 TTC8
11 vision/eye MP:0005391 9.23 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS5

Drugs & Therapeutics for Bardet-Biedl Syndrome 8

Interventional clinical trials:


# 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 29 TTC8

Anatomical Context for Bardet-Biedl Syndrome 8

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

41
Heart, Eye

Publications for Bardet-Biedl Syndrome 8

Articles related to Bardet-Biedl Syndrome 8:

# Title Authors Year
1
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. ( 29126234 )
2018
2
Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea. ( 25605782 )
2015
3
Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. ( 20643117 )
2010

Variations for Bardet-Biedl Syndrome 8

ClinVar genetic disease variations for Bardet-Biedl Syndrome 8:

6
# 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

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS5
2
Show member pathways
11.25 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS5

GO Terms for Bardet-Biedl Syndrome 8

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.92 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS5
2 cytoskeleton GO:0005856 9.88 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8
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 ciliary membrane GO:0060170 9.63 BBS1 BBS2 BBS4 BBS5 BBS7 TTC8
7 axoneme GO:0005930 9.61 BBS1 BBS5 BBS7
8 cilium GO:0005929 9.56 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS5
9 photoreceptor outer segment GO:0001750 9.54 BBS4 BBS7
10 photoreceptor connecting cilium GO:0032391 9.51 BBS4 TTC8
11 non-motile cilium GO:0097730 9.49 BBS4 TTC8
12 centriolar satellite GO:0034451 9.48 BBS4 BBS5
13 BBSome GO:0034464 9.17 BBIP1 BBS1 BBS2 BBS4 BBS5 BBS7
14 cytoplasm GO:0005737 10.09 BBIP1 BBS1 BBS2 BBS4 BBS5 BBS7
15 cytosol GO:0005829 10.07 BBIP1 BBS1 BBS2 BBS4 BBS5 BBS7

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.91 BBS1 BBS10 BBS2 BBS4 BBS5 BBS7
2 protein transport GO:0015031 9.91 BBIP1 BBS1 BBS2 BBS4 BBS5 BBS7
3 sensory perception of smell GO:0007608 9.82 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 photoreceptor cell maintenance GO:0045494 9.71 BBS1 BBS10 BBS2 BBS4
8 heart looping GO:0001947 9.7 BBS4 BBS5 BBS7
9 cilium assembly GO:0060271 9.7 BBIP1 BBS1 BBS2 BBS4 BBS5 BBS7
10 retina homeostasis GO:0001895 9.65 BBS1 BBS10 BBS4
11 cerebral cortex development GO:0021987 9.64 BBS2 BBS4
12 hippocampus development GO:0021766 9.63 BBS2 BBS4
13 negative regulation of GTPase activity GO:0034260 9.63 BBS4 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 9.51 BBS2 BBS4
27 cell projection organization GO:0030030 9.5 BBIP1 BBS1 BBS2 BBS4 BBS5 BBS7
28 sensory processing GO:0050893 9.49 BBS4 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:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.56 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS5
2 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 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
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