BBS8
MCID: BRD020
MIFTS: 50

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 56 12 52 73 29 6 15 71
Bbs8 56 12 73
Bardet-Biedl Syndrome, Type 8 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
bardet-biedl syndrome 8:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 8

UniProtKB/Swiss-Prot : 73 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 bardet-biedl syndrome 2. 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 brain, 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 : 56 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 top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic retinitis pigmentosa 30.9 TTC8 BBS2 BBS1
2 bardet-biedl syndrome 2 30.6 MKKS BBS2
3 body mass index quantitative trait locus 11 29.7 TTC8 MKKS BBS4 BBS2 BBS1 BBIP1
4 retinal degeneration 29.2 MKKS IFT88 CEP290 BBS7 BBS4 BBS10
5 bardet-biedl syndrome 1 28.5 MKKS LZTFL1 IFT88 BBS9 BBS7 BBS4
6 polydactyly 27.9 TTC8 MKS1 MKKS LZTFL1 CEP290 BBS7
7 retinitis pigmentosa 26.1 TTC8 RAB3IP MKS1 MKKS LZTFL1 KIF17
8 bardet-biedl syndrome 25.7 TTC8 TTC26 RAB3IP MKS1 MKKS LZTFL1
9 retinitis pigmentosa 74 10.5 TTC8 BBS2
10 bardet-biedl syndrome 9 10.3 TTC8 BBS9
11 neuroretinitis 10.3
12 retinitis 10.3
13 ciliopathy 10.3
14 joubert syndrome 13 10.3 CEP290 BBS2
15 joubert syndrome 6 10.3 MKS1 CEP290
16 encephalocele 10.2 MKS1 CEP290
17 leber congenital amaurosis 6 10.2 MKS1 CEP290
18 retinitis pigmentosa 51 10.2
19 bardet-biedl syndrome 4 10.2
20 joubert syndrome 9 10.2 MKS1 CEP290
21 joubert syndrome 7 10.2 MKS1 CEP290
22 joubert syndrome 2 10.2 MKS1 CEP290
23 nephronophthisis 7 10.2 MKS1 CEP290
24 nephronophthisis 16 10.2 MKS1 CEP290
25 meckel syndrome, type 4 10.2 MKS1 CEP290
26 joubert syndrome 5 10.2 MKS1 CEP290
27 joubert syndrome 24 10.1 IFT88 CEP290
28 nephronophthisis 14 10.1 MKS1 CEP290
29 joubert syndrome 4 10.1 MKS1 CEP290 BBS2
30 coach syndrome 10.1 MKS1 CEP290 BBS2
31 ciliary dyskinesia, primary, 9 10.1 IFT88 BBS4
32 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 10.1
33 bardet-biedl syndrome 5 10.1
34 bardet-biedl syndrome 7 10.1
35 situs inversus 10.1
36 meckel syndrome, type 2 10.1 MKS1 CEP290
37 simpson-golabi-behmel syndrome, type 2 10.1 IFT88 CEP290 BBS4
38 meckel syndrome, type 5 10.0 MKS1 CEP290
39 polycystic kidney disease 10.0 IFT88 BBS5 BBS4 BBS1
40 night blindness, congenital stationary, autosomal dominant 3 10.0 BBS9 BBS5 BBS4 BBS12 BBS10
41 ellis-van creveld syndrome 10.0 IFT88 CEP290 BBS2
42 nephronophthisis 9 10.0 MKS1 CEP290
43 bardet-biedl syndrome 10 10.0 BBS4 BBS2 BBS12 BBS10 BBS1
44 orofaciodigital syndrome 9.9 MKS1 IFT88 CEP290
45 polycystic kidney disease 2 with or without polycystic liver disease 9.9 MKS1 KIF17 IFT88
46 asphyxiating thoracic dystrophy 9.9 IFT88 CEP290 BBS7 BBS1
47 tetralogy of fallot 9.9 MKKS BBS7 BBS4 BBS2 BBS1
48 meckel syndrome, type 6 9.9 MKS1 CEP290
49 orofaciodigital syndrome i 9.8 RAB3IP IFT88 CEP290
50 meckel syndrome, type 3 9.8 MKS1 IFT88 CEP290 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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 31 occasional (7.5%) HP:0001696
2 renal dysplasia 31 occasional (7.5%) HP:0000110
3 intellectual disability 31 HP:0001249
4 global developmental delay 31 HP:0001263
5 cognitive impairment 31 HP:0100543
6 brachycephaly 31 HP:0000248
7 obesity 31 HP:0001513
8 hypospadias 31 HP:0000047
9 rod-cone dystrophy 31 HP:0000510
10 hypogonadism 31 HP:0000135
11 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
cognitive impairment
mental retardation
delayed development

Growth Weight:
obesity

Skeletal Hands:
polydactyly

Head And Neck Eyes:
retinitis pigmentosa

Genitourinary Kidneys:
renal dysplasia (in some patients)

Head And Neck Head:
brachycephaly

Genitourinary External Genitalia Male:
hypospadias
hypogonadism

Skeletal Feet:
polydactyly

Abdomen:
situs inversus (in some patients)

Clinical features from OMIM:

615985

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 8:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.45 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
2 behavior/neurological MP:0005386 10.36 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
3 cellular MP:0005384 10.34 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
4 nervous system MP:0003631 10.33 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
5 homeostasis/metabolism MP:0005376 10.27 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
6 craniofacial MP:0005382 10.21 BBS1 BBS4 BBS7 CEP290 IFT27 IFT88
7 cardiovascular system MP:0005385 10.19 BBS1 BBS4 BBS5 BBS7 CEP290 IFT27
8 adipose tissue MP:0005375 10.16 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
9 renal/urinary system MP:0005367 10.11 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
10 limbs/digits/tail MP:0005371 10.09 BBS1 BBS2 BBS7 BBS9 IFT27 IFT88
11 reproductive system MP:0005389 9.97 BBIP1 BBS1 BBS2 BBS4 BBS7 CEP290
12 hearing/vestibular/ear MP:0005377 9.95 BBS1 BBS4 IFT88 MKKS MKS1 TTC26
13 respiratory system MP:0005388 9.86 BBS1 BBS4 CEP290 IFT27 IFT88 MKKS
14 skeleton MP:0005390 9.81 BBS12 BBS5 BBS9 CEP290 IFT27 IFT88
15 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 BBS7 CEP290 MKKS
16 vision/eye MP:0005391 9.5 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4

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:

40
Heart, Retina, Brain, Kidney, Testes, Pituitary

Publications for Bardet-Biedl Syndrome 8

Articles related to Bardet-Biedl Syndrome 8:

(show all 43)
# Title Authors PMID Year
1
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. 56 6 61
16308660 2006
2
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. 6 56 61
14520415 2003
3
Bardet-Biedl Syndrome 61 6
20301537 2003
4
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 56
19797195 2010
5
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6
12567324 2003
6
The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina. 61
32433491 2020
7
Tissue-dependent differences in Bardet-Biedl syndrome gene expression. 61
31845361 2020
8
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. 61
31283077 2019
9
Absence of BBSome function leads to astrocyte reactivity in the brain. 61
31072410 2019
10
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. 61
30901771 2019
11
[Bardet-Biedl syndrome protein-8 is involved in flagellar membrane protein transport in Chlamydomonas reinhardtii]. 61
30756542 2019
12
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. 61
29126234 2018
13
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment. 61
29049287 2017
14
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 61
28761321 2017
15
Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51). 61
26195043 2016
16
Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins. 61
25964651 2015
17
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. 61
25776555 2015
18
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. 61
25552655 2015
19
Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea. 61
25605782 2015
20
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. 61
24939912 2014
21
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 61
23432027 2014
22
Regulation of cilium length and intraflagellar transport by the RCK-kinases ICK and MOK in renal epithelial cells. 61
25243405 2014
23
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. 61
23716571 2013
24
The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium. 61
22767577 2012
25
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 61
22500027 2012
26
Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. 61
21646512 2011
27
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. 61
21044901 2011
28
[Bardet - Biedl syndrome in the child. A study of 11 cases]. 61
21267825 2011
29
Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. 61
20643117 2010
30
The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. 61
20207966 2010
31
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 61
20472660 2010
32
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. 61
20451172 2010
33
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. 61
19402160 2009
34
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. 61
16877420 2006
35
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. 61
16399798 2006
36
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 61
16104012 2005
37
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 61
15770229 2005
38
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 61
15666242 2005
39
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 61
15690372 2005
40
[Update on Bardet-Biedl syndrome]. 61
15767906 2005
41
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. 61
15155861 2004
42
Establishing a connection between cilia and Bardet-Biedl Syndrome. 61
15106604 2004
43
Characterization and distribution of bombesin binding sites in the goldfish hypothalamic feeding center and pituitary. 61
8746543 1995

Variations for Bardet-Biedl Syndrome 8

ClinVar genetic disease variations for Bardet-Biedl Syndrome 8:

6 (show all 47) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTC8 NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del)deletion Pathogenic 2528 rs587777806 14:89310158-89310163 14:88843814-88843819
2 TTC8 NM_144596.3(TTC8):c.1049+2_1049+4deldeletion Pathogenic 2529 rs587777807 14:89336544-89336546 14:88870200-88870202
3 TTC8 NM_144596.3(TTC8):c.624+1G>ASNV Pathogenic 2531 rs587777808 14:89310195-89310195 14:88843851-88843851
4 TTC8 NM_144596.3(TTC8):c.265+1_265+2deldeletion Likely pathogenic 804470 14:89305917-89305918 14:88839573-88839574
5 TTC8 NM_144596.4(TTC8):c.489G>A (p.Thr163=)SNV Conflicting interpretations of pathogenicity 2530 rs119103286 14:89307540-89307540 14:88841196-88841196
6 TTC8 NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)SNV Conflicting interpretations of pathogenicity 437079 rs142938748 14:89338702-89338702 14:88872358-88872358
7 TTC8 NM_144596.4(TTC8):c.*93G>ASNV Conflicting interpretations of pathogenicity 885017 14:89343847-89343847 14:88877503-88877503
8 TTC8 NM_198309.3(TTC8):c.595-5C>TSNV Conflicting interpretations of pathogenicity 100608 rs137853922 14:89319310-89319310 14:88852966-88852966
9 TTC8 NM_144596.4(TTC8):c.267C>A (p.Arg89=)SNV Conflicting interpretations of pathogenicity 196599 rs200113889 14:89307210-89307210 14:88840866-88840866
10 TTC8 NM_144596.4(TTC8):c.284A>G (p.Lys95Arg)SNV Conflicting interpretations of pathogenicity 196600 rs150880478 14:89307227-89307227 14:88840883-88840883
11 TTC8 NM_144596.4(TTC8):c.1077C>T (p.Asn359=)SNV Conflicting interpretations of pathogenicity 215974 rs150896551 14:89337920-89337920 14:88871576-88871576
12 TTC8 NM_144596.4(TTC8):c.1464G>C (p.Ala488=)SNV Conflicting interpretations of pathogenicity 215548 rs142073418 14:89343670-89343670 14:88877326-88877326
13 TTC8 NM_144596.4(TTC8):c.-25G>ASNV Conflicting interpretations of pathogenicity 262512 rs7145692 14:89291027-89291027 14:88824683-88824683
14 TTC8 NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)SNV Conflicting interpretations of pathogenicity 262515 rs114557412 14:89305845-89305845 14:88839501-88839501
15 TTC8 NM_144596.4(TTC8):c.669G>A (p.Lys223=)SNV Conflicting interpretations of pathogenicity 262517 rs141304350 14:89319359-89319359 14:88853015-88853015
16 TTC8 NM_144596.4(TTC8):c.1401G>A (p.Pro467=)SNV Conflicting interpretations of pathogenicity 262513 rs114064158 14:89341423-89341423 14:88875079-88875079
17 TTC8 NM_144596.4(TTC8):c.1463C>T (p.Ala488Val)SNV Conflicting interpretations of pathogenicity 314804 rs199649536 14:89343669-89343669 14:88877325-88877325
18 TTC8 NM_144596.4(TTC8):c.*83A>GSNV Conflicting interpretations of pathogenicity 314806 rs147325843 14:89343837-89343837 14:88877493-88877493
19 TTC8 NM_198309.3(TTC8):c.300-15T>ASNV Conflicting interpretations of pathogenicity 314799 rs187484893 14:89307366-89307366 14:88841022-88841022
20 TTC8 NM_144596.4(TTC8):c.*247T>CSNV Uncertain significance 314808 rs886050879 14:89344001-89344001 14:88877657-88877657
21 TTC8 NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp)SNV Uncertain significance 423070 rs755412340 14:89337894-89337894 14:88871550-88871550
22 TTC8 NM_144596.4(TTC8):c.5G>A (p.Ser2Asn)SNV Uncertain significance 314797 rs199571677 14:89291056-89291056 14:88824712-88824712
23 TTC8 NM_144596.4(TTC8):c.275C>T (p.Thr92Met)SNV Uncertain significance 314798 rs886050877 14:89307218-89307218 14:88840874-88840874
24 TTC8 NM_198309.3(TTC8):c.769-11C>TSNV Uncertain significance 314800 rs768485587 14:89327555-89327555 14:88861211-88861211
25 TTC8 NM_144596.4(TTC8):c.1382C>T (p.Ala461Val)SNV Uncertain significance 314802 rs139195149 14:89341404-89341404 14:88875060-88875060
26 TTC8 NM_144596.4(TTC8):c.-38C>ASNV Uncertain significance 314796 rs886050876 14:89291014-89291014 14:88824670-88824670
27 TTC8 NM_144596.4(TTC8):c.1491C>T (p.Asp497=)SNV Uncertain significance 314805 rs886050878 14:89343697-89343697 14:88877353-88877353
28 TTC8 NM_144596.4(TTC8):c.-44C>TSNV Uncertain significance 314795 rs571786285 14:89291008-89291008 14:88824664-88824664
29 TTC8 NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys)SNV Uncertain significance 314801 rs370111364 14:89327672-89327672 14:88861328-88861328
30 TTC8 NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala)SNV Uncertain significance 314803 rs376411291 14:89341439-89341439 14:88875095-88875095
31 TTC8 NM_144596.4(TTC8):c.*377C>TSNV Uncertain significance 885929 14:89344131-89344131 14:88877787-88877787
32 TTC8 NM_144596.4(TTC8):c.*418G>ASNV Uncertain significance 885930 14:89344172-89344172 14:88877828-88877828
33 TTC8 NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)SNV Uncertain significance 531831 rs140698625 14:89338776-89338776 14:88872432-88872432
34 TTC8 NM_144596.4(TTC8):c.305C>T (p.Thr102Ile)SNV Uncertain significance 886804 14:89307248-89307248 14:88840904-88840904
35 TTC8 NM_144596.4(TTC8):c.417C>G (p.Ile139Met)SNV Uncertain significance 886805 14:89307468-89307468 14:88841124-88841124
36 TTC8 NM_144596.4(TTC8):c.640G>A (p.Ala214Thr)SNV Uncertain significance 888085 14:89319330-89319330 14:88852986-88852986
37 TTC8 NM_144596.4(TTC8):c.800T>A (p.Val267Asp)SNV Uncertain significance 884950 14:89327567-89327567 14:88861223-88861223
38 TTC8 NM_144596.4(TTC8):c.950A>C (p.Glu317Ala)SNV Uncertain significance 884951 14:89336443-89336443 14:88870099-88870099
39 TTC8 NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu)SNV Uncertain significance 884952 14:89336535-89336535 14:88870191-88870191
40 TTC8 NM_144596.4(TTC8):c.*17A>GSNV Uncertain significance 888137 14:89343771-89343771 14:88877427-88877427
41 TTC8 NM_144596.4(TTC8):c.*45A>CSNV Uncertain significance 888138 14:89343799-89343799 14:88877455-88877455
42 TTC8 NM_144596.4(TTC8):c.*57C>TSNV Uncertain significance 885015 14:89343811-89343811 14:88877467-88877467
43 TTC8 NM_144596.4(TTC8):c.*92C>TSNV Uncertain significance 885016 14:89343846-89343846 14:88877502-88877502
44 TTC8 NM_144596.4(TTC8):c.*493T>CSNV Benign/Likely benign 886935 14:89344247-89344247 14:88877903-88877903
45 TTC8 NM_144596.4(TTC8):c.*238G>ASNV Benign 314807 rs1048190 14:89343992-89343992 14:88877648-88877648
46 TTC8 NM_198309.3(TTC8):c.1402-12T>CSNV Benign 262514 rs79747892 14:89343626-89343626 14:88877282-88877282
47 TTC8 NM_144596.4(TTC8):c.*472A>CSNV Benign 314809 rs59300815 14:89344226-89344226 14:88877882-88877882

Expression for Bardet-Biedl Syndrome 8

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

Pathways for Bardet-Biedl Syndrome 8

GO Terms for Bardet-Biedl Syndrome 8

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.43 TTC8 RAB3IP MKS1 MKKS LZTFL1 KIF17
2 cytosol GO:0005829 10.38 TTC8 RAB3IP MKS1 MKKS LZTFL1 KIF17
3 cytoskeleton GO:0005856 10.22 TTC8 RAB3IP MKS1 MKKS KIF17 IFT88
4 centrosome GO:0005813 10.13 TTC8 TTC26 MKS1 MKKS IFT88 IFT27
5 ciliary basal body GO:0036064 10.03 TTC8 TTC26 MKS1 MKKS KIF17 IFT88
6 microtubule organizing center GO:0005815 9.93 TTC8 MKS1 MKKS KIF17 IFT88 CEP290
7 BBSome GO:0034464 9.92 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
8 motile cilium GO:0031514 9.91 MKKS IFT88 IFT27 BBS4 BBS2
9 ciliary membrane GO:0060170 9.91 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
10 centriole GO:0005814 9.86 MKS1 IFT88 CEP290 BBS4
11 cilium GO:0005929 9.86 TTC8 TTC26 MKS1 KIF17 IFT88 IFT27
12 photoreceptor connecting cilium GO:0032391 9.8 TTC8 KIF17 CEP290 BBS4
13 ciliary transition zone GO:0035869 9.78 MKS1 CEP290 BBS9 BBS4
14 axoneme GO:0005930 9.77 KIF17 BBS7 BBS1
15 centriolar satellite GO:0034451 9.76 CEP290 BBS9 BBS4
16 intraciliary transport particle B GO:0030992 9.76 TTC26 KIF17 IFT88 IFT27
17 ciliary tip GO:0097542 9.74 TTC26 IFT88 IFT27
18 non-motile cilium GO:0097730 9.72 TTC8 IFT88 BBS4
19 pericentriolar material GO:0000242 9.6 BBS9 BBS4
20 MKS complex GO:0036038 9.58 MKS1 CEP290
21 cell projection GO:0042995 9.55 TTC8 TTC26 RAB3IP MKS1 KIF17 IFT88

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 10.1 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
2 protein transport GO:0015031 10.07 TTC8 TTC26 RAB3IP KIF17 IFT27 CEP290
3 visual perception GO:0007601 9.97 MKKS BBS9 BBS7 BBS5 BBS4 BBS2
4 fat cell differentiation GO:0045444 9.91 TTC8 MKKS BBS9 BBS7 BBS4 BBS2
5 heart looping GO:0001947 9.89 MKKS BBS7 BBS5 BBS4
6 intraciliary transport involved in cilium assembly GO:0035735 9.86 TTC26 KIF17 IFT88 IFT27
7 ciliary basal body-plasma membrane docking GO:0097711 9.84 RAB3IP MKS1 CEP290
8 spermatid development GO:0007286 9.84 TTC26 MKKS BBS4
9 intracellular transport GO:0046907 9.84 MKKS BBS7 BBS5 BBS4
10 protein localization GO:0008104 9.83 BBS7 BBS4 BBS2
11 cerebral cortex development GO:0021987 9.83 MKKS BBS4 BBS2
12 determination of left/right symmetry GO:0007368 9.83 MKS1 MKKS BBS7
13 protein localization to cilium GO:0061512 9.83 TTC26 BBS9 BBS4 BBS1
14 hippocampus development GO:0021766 9.82 MKKS BBS4 BBS2
15 smoothened signaling pathway GO:0007224 9.81 TTC26 IFT27 BBS7
16 negative regulation of GTPase activity GO:0034260 9.81 TTC8 MKKS BBS4
17 intraciliary transport GO:0042073 9.81 TTC26 IFT88 IFT27 BBS12
18 non-motile cilium assembly GO:1905515 9.81 TTC8 MKS1 MKKS IFT88 BBS7 BBS4
19 positive regulation of multicellular organism growth GO:0040018 9.8 MKKS BBS4 BBS2
20 melanosome transport GO:0032402 9.8 MKKS BBS7 BBS5 BBS4 BBS2
21 photoreceptor cell maintenance GO:0045494 9.8 MKKS BBS4 BBS2 BBS12 BBS10 BBS1
22 brain morphogenesis GO:0048854 9.79 MKKS BBS4 BBS2
23 chaperone-mediated protein complex assembly GO:0051131 9.78 MKKS BBS12 BBS10
24 regulation of stress fiber assembly GO:0051492 9.77 TTC8 MKKS BBS4
25 striatum development GO:0021756 9.76 MKKS BBS4 BBS2
26 inner ear receptor cell stereocilium organization GO:0060122 9.76 TTC8 MKS1 IFT88 IFT27
27 response to leptin GO:0044321 9.75 MKKS BBS4 BBS2
28 leptin-mediated signaling pathway GO:0033210 9.74 MKKS BBS4 BBS2
29 cell projection organization GO:0030030 9.73 TTC8 MKS1 KIF17 IFT88 CEP290 BBS9
30 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.72 MKKS BBS4 BBS2
31 motile cilium assembly GO:0044458 9.68 MKS1 BBS5
32 protein localization to organelle GO:0033365 9.68 BBS4 BBS2
33 vasodilation GO:0042311 9.68 MKKS BBS2
34 negative regulation of actin filament polymerization GO:0030837 9.67 MKKS BBS4
35 face development GO:0060324 9.67 MKKS BBS4
36 artery smooth muscle contraction GO:0014824 9.65 MKKS BBS2
37 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.65 MKKS BBS4 BBS2
38 sensory processing GO:0050893 9.62 TTC8 BBS4
39 pigment granule aggregation in cell center GO:0051877 9.62 MKKS BBS7
40 cilium assembly GO:0060271 9.44 TTC8 TTC26 MKS1 MKKS IFT88 CEP290

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 9.93 TTC8 TTC26 RAB3IP MKS1 MKKS LZTFL1
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.23 TTC8 MKKS BBS7 BBS5 BBS4 BBS2

Sources for Bardet-Biedl Syndrome 8

3 CDC
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