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 57 12 53 74 29 6 15 72
Bbs8 57 12 74
Bardet-Biedl Syndrome, Type 8 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
bardet-biedl syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110130
MeSH 44 D020788
ICD10 33 Q87.89
MedGen 42 C1859566
UMLS 72 C1859566

Summaries for Bardet-Biedl Syndrome 8

UniProtKB/Swiss-Prot : 74 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 bardet-biedl syndrome 5 and nonsyndromic 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, brain and testes, 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 : 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 30)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 5 30.1 BBS5 BBS2
2 nonsyndromic retinitis pigmentosa 29.7 TTC8 BBS2 BBS1
3 bardet-biedl syndrome 4 29.5 BBS4 BBS2 BBS1
4 body mass index quantitative trait locus 11 28.8 BBS4 BBS2 BBS1
5 retinitis pigmentosa 28.0 TTC8 BBS4 BBS2 BBS10 BBS1
6 bardet-biedl syndrome 1 27.3 BBS7 BBS4 BBS2 BBS10 BBS1 BBIP1
7 polydactyly 27.2 TTC8 BBS7 BBS4 BBS2 BBS10 BBS1
8 bardet-biedl syndrome 26.6 TTC8 BBS7 BBS5 BBS4 BBS2 BBS10
9 neuroretinitis 10.3
10 retinitis 10.3
11 retinitis pigmentosa 51 10.2
12 ciliopathy 10.2
13 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 10.1
14 bardet-biedl syndrome 2 10.1
15 bardet-biedl syndrome 7 10.1
16 situs inversus 10.1
17 retinal degeneration 10.1
18 bardet-biedl syndrome 15 9.9 BBS4 BBS2
19 hydrolethalus syndrome 1 9.8 BBS4 BBS2
20 alstrom syndrome 9.7 BBS2 BBS1
21 bardet-biedl syndrome 19 9.6 BBS2 BBS10
22 meckel syndrome, type 1 9.4 BBS4 BBS1
23 mckusick-kaufman syndrome 9.2 BBS7 BBS4 BBS2 BBS1
24 bardet-biedl syndrome 17 9.2 BBS7 BBS4 BBS2 BBS1
25 bardet-biedl syndrome 14 9.1 BBS2 BBS10 BBS1
26 bardet-biedl syndrome 3 8.8 BBS7 BBS5 BBS4 BBS2 BBS1
27 bardet-biedl syndrome 13 8.7 BBS4 BBS2 BBS10 BBS1
28 bardet-biedl syndrome 6 8.4 BBS7 BBS4 BBS2 BBS10 BBS1
29 bardet-biedl syndrome 18 8.4 TTC8 BBS7 BBS4 BBS2 BBS1 BBIP1
30 fundus dystrophy 8.3 BBS5 BBS4 BBS2 BBS10 BBS1

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:

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

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

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 9.17 BBIP1 BBS1 BBS10 BBS2 BBS4 BBS7

Drugs & Therapeutics for Bardet-Biedl Syndrome 8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the 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, Brain, Testes, Kidney, Retina, Pituitary

Publications for Bardet-Biedl Syndrome 8

Articles related to Bardet-Biedl Syndrome 8:

(show all 41)
# Title Authors PMID Year
1
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. 38 8 71
16308660 2006
2
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. 38 8 71
14520415 2003
3
Bardet-Biedl Syndrome 38 71
20301537 2003
4
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 8
19797195 2010
5
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 71
12567324 2003
6
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. 38
31283077 2019
7
Absence of BBSome function leads to astrocyte reactivity in the brain. 38
31072410 2019
8
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. 38
30901771 2019
9
[Bardet-Biedl syndrome protein-8 is involved in flagellar membrane protein transport in Chlamydomonas reinhardtii]. 38
30756542 2019
10
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. 38
29126234 2018
11
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment. 38
29049287 2017
12
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 38
28761321 2017
13
Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51). 38
26195043 2016
14
Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins. 38
25964651 2015
15
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. 38
25776555 2015
16
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. 38
25552655 2015
17
Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea. 38
25605782 2015
18
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. 38
24939912 2014
19
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 38
23432027 2014
20
Regulation of cilium length and intraflagellar transport by the RCK-kinases ICK and MOK in renal epithelial cells. 38
25243405 2014
21
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. 38
23716571 2013
22
The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium. 38
22767577 2012
23
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 38
22500027 2012
24
Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. 38
21646512 2011
25
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. 38
21044901 2011
26
[Bardet - Biedl syndrome in the child. A study of 11 cases]. 38
21267825 2011
27
Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. 38
20643117 2010
28
The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. 38
20207966 2010
29
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 38
20472660 2010
30
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. 38
20451172 2010
31
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. 38
19402160 2009
32
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. 38
16877420 2006
33
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. 38
16399798 2006
34
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 38
16104012 2005
35
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 38
15770229 2005
36
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 38
15666242 2005
37
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 38
15690372 2005
38
[Update on Bardet-Biedl syndrome]. 38
15767906 2005
39
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. 38
15155861 2004
40
Establishing a connection between cilia and Bardet-Biedl Syndrome. 38
15106604 2004
41
Characterization and distribution of bombesin binding sites in the goldfish hypothalamic feeding center and pituitary. 38
8746543 1995

Variations for Bardet-Biedl Syndrome 8

ClinVar genetic disease variations for Bardet-Biedl Syndrome 8:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TTC8 NM_144596.3(TTC8): c.589_594del (p.Glu197_Tyr198del) deletion Pathogenic rs587777806 14:89310159-89310164 14:88843815-88843820
2 TTC8 NM_144596.3(TTC8): c.1049+2_1049+4del deletion Pathogenic rs587777807 14:89336544-89336546 14:88870200-88870202
3 TTC8 NM_144596.3(TTC8): c.624+1G> A single nucleotide variant Pathogenic rs587777808 14:89310195-89310195 14:88843851-88843851
4 TTC8 NM_144596.3(TTC8): c.489G> A (p.Thr163=) single nucleotide variant Conflicting interpretations of pathogenicity rs119103286 14:89307540-89307540 14:88841196-88841196
5 TTC8 NM_144596.3(TTC8): c.1051C> T (p.Arg351Trp) single nucleotide variant Uncertain significance rs755412340 14:89337894-89337894 14:88871550-88871550
6 TTC8 NM_144596.3(TTC8): c.1327C> T (p.Arg443Trp) single nucleotide variant Uncertain significance rs140698625 14:89338776-89338776 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 TTC8 BBS7 BBS5 BBS4 BBS2 BBS10
2
Show member pathways
11.25 TTC8 BBS7 BBS5 BBS4 BBS2 BBS10

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 TTC8 BBS7 BBS5 BBS4 BBS2 BBS10
2 cytoskeleton GO:0005856 9.88 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1
3 microtubule organizing center GO:0005815 9.85 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1
4 centrosome GO:0005813 9.76 TTC8 BBS7 BBS4 BBS1
5 ciliary basal body GO:0036064 9.73 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1
6 ciliary membrane GO:0060170 9.63 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1
7 axoneme GO:0005930 9.61 BBS7 BBS5 BBS1
8 cilium GO:0005929 9.56 TTC8 BBS7 BBS5 BBS4 BBS2 BBS10
9 photoreceptor outer segment GO:0001750 9.54 BBS7 BBS4
10 photoreceptor connecting cilium GO:0032391 9.51 TTC8 BBS4
11 non-motile cilium GO:0097730 9.49 TTC8 BBS4
12 centriolar satellite GO:0034451 9.48 BBS5 BBS4
13 BBSome GO:0034464 9.17 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1
14 cytoplasm GO:0005737 10.09 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1
15 cytosol GO:0005829 10.07 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1

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 BBS7 BBS5 BBS4 BBS2 BBS10 BBS1
2 protein transport GO:0015031 9.91 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1
3 sensory perception of smell GO:0007608 9.82 TTC8 BBS4 BBS1
4 fat cell differentiation GO:0045444 9.76 TTC8 BBS7 BBS4 BBS2
5 visual perception GO:0007601 9.73 BBS7 BBS5 BBS4 BBS2 BBS10 BBS1
6 protein localization GO:0008104 9.71 BBS7 BBS4 BBS2
7 photoreceptor cell maintenance GO:0045494 9.71 BBS4 BBS2 BBS10 BBS1
8 heart looping GO:0001947 9.7 BBS7 BBS5 BBS4
9 cilium assembly GO:0060271 9.7 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1
10 retina homeostasis GO:0001895 9.65 BBS4 BBS10 BBS1
11 cerebral cortex development GO:0021987 9.64 BBS4 BBS2
12 hippocampus development GO:0021766 9.63 BBS4 BBS2
13 negative regulation of GTPase activity GO:0034260 9.63 TTC8 BBS4
14 positive regulation of multicellular organism growth GO:0040018 9.62 BBS4 BBS2
15 adult behavior GO:0030534 9.62 BBS4 BBS2
16 melanosome transport GO:0032402 9.62 BBS7 BBS5 BBS4 BBS2
17 Golgi to plasma membrane protein transport GO:0043001 9.61 BBS2 BBS1
18 protein localization to cilium GO:0061512 9.61 BBS4 BBS1
19 brain morphogenesis GO:0048854 9.6 BBS4 BBS2
20 protein localization to organelle GO:0033365 9.59 BBS4 BBS2
21 striatum development GO:0021756 9.58 BBS4 BBS2
22 regulation of stress fiber assembly GO:0051492 9.58 TTC8 BBS4
23 response to leptin GO:0044321 9.57 BBS4 BBS2
24 leptin-mediated signaling pathway GO:0033210 9.56 BBS4 BBS2
25 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.55 BBS4 BBS2
26 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.51 BBS4 BBS2
27 cell projection organization GO:0030030 9.5 TTC8 BBS7 BBS5 BBS4 BBS2 BBS1
28 sensory processing GO:0050893 9.49 TTC8 BBS4
29 non-motile cilium assembly GO:1905515 9.1 TTC8 BBS7 BBS4 BBS2 BBS10 BBS1

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 TTC8 BBS7 BBS5 BBS4 BBS2 BBS10
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.17 TTC8 BBS7 BBS5 BBS4 BBS2 BBS10

Sources for Bardet-Biedl Syndrome 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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