BBS8
MCID: BRD020
MIFTS: 40

Bardet-Biedl Syndrome 8 (BBS8)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Bardet-Biedl Syndrome 8

MalaCards integrated aliases for Bardet-Biedl Syndrome 8:

Name: Bardet-Biedl Syndrome 8 57 11 19 73 28 5 14 71
Bbs8 57 11 73
Bardet-Biedl Syndrome, Type 8 38

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0110130
OMIM® 57 615985
OMIM Phenotypic Series 57 PS209900
MeSH 43 D020788
MedGen 40 C1859566
UMLS 71 C1859566

Summaries for Bardet-Biedl Syndrome 8

GARD: 19 Bardet-Biedl syndrome (BBS) is characterized by rod-cone dystrophy, truncal obesity, postaxial polydactyly, cognitive impairment, male hypogonadotropic hypogonadism, complex female genitourinary malformations, and renal abnormalities. The visual prognosis for children with BBS is poor. Night blindness is usually evident by age seven to eight years; the mean age of legal blindness is 15.5 years. Birth weight is usually normal, but significant weight gain begins within the first year and becomes a lifelong issue for most individuals. A majority of individuals have significant learning difficulties; a minority have severe impairment on IQ testing. Renal disease is a major cause of morbidity and mortality.

MalaCards based summary: Bardet-Biedl Syndrome 8, also known as bbs8, is related to retinitis pigmentosa and retinitis. An important gene associated with Bardet-Biedl Syndrome 8 is TTC8 (Tetratricopeptide Repeat Domain 8). Affiliated tissues include heart, kidney and retina, and related phenotypes are renal dysplasia and global developmental delay

UniProtKB/Swiss-Prot: 73 A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. 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.

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) (Updated 24-Oct-2022)

Disease Ontology: 11 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the TTC8 gene on chromosome 14q31.

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 22
Bardet-Biedl Syndrome 21 Bardet-Biedl Syndrome 20

Diseases related to Bardet-Biedl Syndrome 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 10.2
2 retinitis 10.2
3 bardet-biedl syndrome 1 10.1
4 bardet-biedl syndrome 2 10.1
5 bardet-biedl syndrome 4 10.1
6 bardet-biedl syndrome 5 10.1
7 bardet-biedl syndrome 10 10.1
8 bardet-biedl syndrome 11 10.1
9 bardet-biedl syndrome 12 10.1
10 bardet-biedl syndrome 10.1
11 ciliopathy 10.1
12 retinitis pigmentosa 51 10.0
13 peripheral retinal degeneration 10.0
14 retinal degeneration 10.0
15 nonsyndromic retinitis pigmentosa 10.0
16 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 9.9
17 body mass index quantitative trait locus 11 9.9
18 polydactyly 9.9
19 bardet-biedl syndrome 7 9.9
20 situs inversus 9.9
21 dextrocardia with situs inversus 9.9
22 syndromic rod-cone dystrophy 9.9
23 branchiootic syndrome 9.8 SIX6 SIX4
24 branchiootorenal syndrome 9.8 SIX6 SIX4
25 nephronophthisis 9.6 VANGL2 TTC8 SPATA7
26 joubert syndrome 1 9.4 VANGL2 TTC8 SPATA7
27 congenital nervous system abnormality 9.2 VANGL2 POMT2 KIF2A EIF2B2

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:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal dysplasia 30 Occasional (7.5%) HP:0000110
2 global developmental delay 30 Very rare (1%) HP:0001263
3 brachycephaly 30 Very rare (1%) HP:0000248
4 obesity 30 Very rare (1%) HP:0001513
5 rod-cone dystrophy 30 Very rare (1%) HP:0000510
6 situs inversus totalis 30 Very rare (1%) HP:0001696
7 hypogonadism 30 Very rare (1%) HP:0000135
8 postaxial polydactyly 30 Very rare (1%) HP:0100259
9 intellectual disability 30 HP:0001249
10 hypospadias 30 HP:0000047

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 8:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 KIF2A POMT2 SIX4 SIX6 SPATA7 TTC8
2 vision/eye MP:0005391 9.1 LSS SIX4 SIX6 SPATA7 TTC8 VANGL2

Drugs & Therapeutics for Bardet-Biedl Syndrome 8

Search Clinical Trials, 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 28 TTC8

Anatomical Context for Bardet-Biedl Syndrome 8

Organs/tissues related to Bardet-Biedl Syndrome 8:

MalaCards : Heart, Kidney, Retina, Pituitary, Brain
ODiseA: Kidney

Publications for Bardet-Biedl Syndrome 8

Articles related to Bardet-Biedl Syndrome 8:

(show all 48)
# Title Authors PMID Year
1
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. 62 57 5
16308660 2006
2
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. 62 57 5
14520415 2003
3
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 5
33532864 2022
4
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 57
19797195 2010
5
A missense mutation in TTC8/BBS8 affecting mRNA splicing in patients with non-syndromic retinitis pigmentosa. 62
35939099 2022
6
Vangl2 participates in the primary ciliary assembly under low fluid shear stress in hUVECs. 62
34738156 2022
7
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome. 62
33517424 2021
8
Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report. 62
34691137 2021
9
Loss of Ciliary Gene Bbs8 Results in Physiological Defects in the Retinal Pigment Epithelium. 62
33681195 2021
10
Low fluid shear stress promoted ciliogenesis via Dvl2 in hUVECs. 62
32776193 2020
11
The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina. 62
32433491 2020
12
Tissue-dependent differences in Bardet-Biedl syndrome gene expression. 62
31845361 2020
13
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. 62
31283077 2019
14
Absence of BBSome function leads to astrocyte reactivity in the brain. 62
31072410 2019
15
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. 62
30901771 2019
16
[Bardet-Biedl syndrome protein-8 is involved in flagellar membrane protein transport in Chlamydomonas reinhardtii]. 62
30756542 2019
17
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. 62
29126234 2018
18
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment. 62
29049287 2017
19
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 62
28761321 2017
20
Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51). 62
26195043 2016
21
Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins. 62
25964651 2015
22
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. 62
25776555 2015
23
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. 62
25552655 2015
24
Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea. 62
25605782 2015
25
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. 62
24939912 2014
26
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 62
23432027 2014
27
Regulation of cilium length and intraflagellar transport by the RCK-kinases ICK and MOK in renal epithelial cells. 62
25243405 2014
28
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. 62
23716571 2013
29
The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium. 62
22767577 2012
30
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 62
22500027 2012
31
Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. 62
21646512 2011
32
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. 62
21044901 2011
33
[Bardet - Biedl syndrome in the child. A study of 11 cases]. 62
21267825 2011
34
Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. 62
20643117 2010
35
The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. 62
20207966 2010
36
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 62
20472660 2010
37
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. 62
20451172 2010
38
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. 62
19402160 2009
39
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. 62
16877420 2006
40
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. 62
16399798 2006
41
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 62
16104012 2005
42
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 62
15770229 2005
43
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 62
15666242 2005
44
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 62
15690372 2005
45
[Update on Bardet-Biedl syndrome]. 62
15767906 2005
46
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. 62
15155861 2004
47
Establishing a connection between cilia and Bardet-Biedl Syndrome. 62
15106604 2004
48
Characterization and distribution of bombesin binding sites in the goldfish hypothalamic feeding center and pituitary. 62
8746543 1995

Variations for Bardet-Biedl Syndrome 8

ClinVar genetic disease variations for Bardet-Biedl Syndrome 8:

5 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTC8 NM_144596.4(TTC8):c.589_594del (p.Glu197_Tyr198del) DEL Pathogenic
2528 rs587777806 GRCh37: 14:89310158-89310163
GRCh38: 14:88843814-88843819
2 TTC8 NM_144596.4(TTC8):c.624+1G>A SNV Pathogenic
2531 rs587777808 GRCh37: 14:89310195-89310195
GRCh38: 14:88843851-88843851
3 TTC8 NM_198309.3:c.(768+1_769-1)_(879+1_880-1)del DEL Pathogenic
974557 GRCh37:
GRCh38:
4 TTC8 NM_144596.4(TTC8):c.1049+2_1049+4del DEL Pathogenic
2529 rs587777807 GRCh37: 14:89336544-89336546
GRCh38: 14:88870200-88870202
5 TTC8 NM_144596.4(TTC8):c.265+1G>A SNV Pathogenic
1694464 GRCh37: 14:89305917-89305917
GRCh38: 14:88839573-88839573
6 TTC8 NM_144596.4(TTC8):c.114+2T>C SNV Pathogenic
1487906 GRCh37: 14:89291167-89291167
GRCh38: 14:88824823-88824823
7 TTC8 NM_144596.4(TTC8):c.701G>A (p.Cys234Tyr) SNV Likely Pathogenic
917966 rs1595959305 GRCh37: 14:89319391-89319391
GRCh38: 14:88853047-88853047
8 TTC8 NM_144596.4(TTC8):c.69del (p.Cys23fs) DEL Likely Pathogenic
974367 rs2094690718 GRCh37: 14:89291120-89291120
GRCh38: 14:88824776-88824776
9 TTC8 NM_144596.4(TTC8):c.265+1_265+2del DEL Likely Pathogenic
804470 rs1595939517 GRCh37: 14:89305917-89305918
GRCh38: 14:88839573-88839574
10 TTC8 NM_144596.4(TTC8):c.625-5C>T SNV Conflicting Interpretations Of Pathogenicity
100608 rs137853922 GRCh37: 14:89319310-89319310
GRCh38: 14:88852966-88852966
11 TTC8 NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) SNV Conflicting Interpretations Of Pathogenicity
196600 rs150880478 GRCh37: 14:89307227-89307227
GRCh38: 14:88840883-88840883
12 TTC8 NM_144596.4(TTC8):c.267C>A (p.Arg89=) SNV Uncertain Significance
196599 rs200113889 GRCh37: 14:89307210-89307210
GRCh38: 14:88840866-88840866
13 TTC8 NM_144596.4(TTC8):c.1077C>T (p.Asn359=) SNV Uncertain Significance
215974 rs150896551 GRCh37: 14:89337920-89337920
GRCh38: 14:88871576-88871576
14 TTC8 NM_144596.4(TTC8):c.1463C>T (p.Ala488Val) SNV Uncertain Significance
314804 rs199649536 GRCh37: 14:89343669-89343669
GRCh38: 14:88877325-88877325
15 TTC8 NM_144596.4(TTC8):c.669G>A (p.Lys223=) SNV Uncertain Significance
262517 rs141304350 GRCh37: 14:89319359-89319359
GRCh38: 14:88853015-88853015
16 TTC8 NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu) SNV Uncertain Significance
884952 rs200086953 GRCh37: 14:89336535-89336535
GRCh38: 14:88870191-88870191
17 TTC8 NM_144596.4(TTC8):c.640G>A (p.Ala214Thr) SNV Uncertain Significance
888085 rs1295139564 GRCh37: 14:89319330-89319330
GRCh38: 14:88852986-88852986
18 TTC8 NM_144596.4(TTC8):c.800T>A (p.Val267Asp) SNV Uncertain Significance
884950 rs770333148 GRCh37: 14:89327567-89327567
GRCh38: 14:88861223-88861223
19 TTC8 NM_144596.4(TTC8):c.905A>G (p.Tyr302Cys) SNV Uncertain Significance
314801 rs370111364 GRCh37: 14:89327672-89327672
GRCh38: 14:88861328-88861328
20 TTC8 NM_144596.4(TTC8):c.489G>A (p.Thr163=) SNV Uncertain Significance
2530 rs119103286 GRCh37: 14:89307540-89307540
GRCh38: 14:88841196-88841196
21 TTC8 NM_144596.4(TTC8):c.799-11C>T SNV Uncertain Significance
314800 rs768485587 GRCh37: 14:89327555-89327555
GRCh38: 14:88861211-88861211
22 TTC8 NM_144596.4(TTC8):c.1382C>T (p.Ala461Val) SNV Uncertain Significance
314802 rs139195149 GRCh37: 14:89341404-89341404
GRCh38: 14:88875060-88875060
23 TTC8 NM_144596.4(TTC8):c.1417A>G (p.Thr473Ala) SNV Uncertain Significance
314803 rs376411291 GRCh37: 14:89341439-89341439
GRCh38: 14:88875095-88875095
24 TTC8 NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp) SNV Uncertain Significance
423070 rs755412340 GRCh37: 14:89337894-89337894
GRCh38: 14:88871550-88871550
25 TTC8 NM_144596.4(TTC8):c.*17A>G SNV Uncertain Significance
888137 rs1164204068 GRCh37: 14:89343771-89343771
GRCh38: 14:88877427-88877427
26 TTC8 NM_144596.4(TTC8):c.*45A>C SNV Uncertain Significance
888138 rs1273103151 GRCh37: 14:89343799-89343799
GRCh38: 14:88877455-88877455
27 TTC8 NM_144596.4(TTC8):c.*57C>T SNV Uncertain Significance
885015 rs74079414 GRCh37: 14:89343811-89343811
GRCh38: 14:88877467-88877467
28 TTC8 NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) SNV Uncertain Significance
Uncertain Significance
531831 rs140698625 GRCh37: 14:89338776-89338776
GRCh38: 14:88872432-88872432
29 TTC8 NM_144596.4(TTC8):c.265+5G>A SNV Uncertain Significance
1332849 GRCh37: 14:89305921-89305921
GRCh38: 14:88839577-88839577
30 TTC8 NM_144596.4(TTC8):c.950A>C (p.Glu317Ala) SNV Uncertain Significance
884951 rs1220094479 GRCh37: 14:89336443-89336443
GRCh38: 14:88870099-88870099
31 TTC8 NM_144596.4(TTC8):c.*92C>T SNV Uncertain Significance
885016 rs148799039 GRCh37: 14:89343846-89343846
GRCh38: 14:88877502-88877502
32 TTC8 NM_144596.4(TTC8):c.*377C>T SNV Uncertain Significance
885929 rs1395639006 GRCh37: 14:89344131-89344131
GRCh38: 14:88877787-88877787
33 TTC8 NM_144596.4(TTC8):c.*418G>A SNV Uncertain Significance
885930 rs2094963356 GRCh37: 14:89344172-89344172
GRCh38: 14:88877828-88877828
34 TTC8 NM_144596.4(TTC8):c.305C>T (p.Thr102Ile) SNV Uncertain Significance
886804 rs1341297017 GRCh37: 14:89307248-89307248
GRCh38: 14:88840904-88840904
35 TTC8 NM_144596.4(TTC8):c.417C>G (p.Ile139Met) SNV Uncertain Significance
886805 rs2094779029 GRCh37: 14:89307468-89307468
GRCh38: 14:88841124-88841124
36 TTC8 NM_144596.4(TTC8):c.-38C>A SNV Uncertain Significance
314796 rs886050876 GRCh37: 14:89291014-89291014
GRCh38: 14:88824670-88824670
37 TTC8 NM_144596.4(TTC8):c.-44C>T SNV Uncertain Significance
314795 rs571786285 GRCh37: 14:89291008-89291008
GRCh38: 14:88824664-88824664
38 TTC8 NM_144596.4(TTC8):c.275C>T (p.Thr92Met) SNV Uncertain Significance
314798 rs886050877 GRCh37: 14:89307218-89307218
GRCh38: 14:88840874-88840874
39 TTC8 NM_144596.4(TTC8):c.1491C>T (p.Asp497=) SNV Uncertain Significance
314805 rs886050878 GRCh37: 14:89343697-89343697
GRCh38: 14:88877353-88877353
40 TTC8 NM_144596.4(TTC8):c.*247T>C SNV Uncertain Significance
314808 rs886050879 GRCh37: 14:89344001-89344001
GRCh38: 14:88877657-88877657
41 TTC8 NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) SNV Uncertain Significance
314797 rs199571677 GRCh37: 14:89291056-89291056
GRCh38: 14:88824712-88824712
42 TTC8 NM_144596.4(TTC8):c.-25G>A SNV Likely Benign
262512 rs7145692 GRCh37: 14:89291027-89291027
GRCh38: 14:88824683-88824683
43 TTC8 NM_144596.4(TTC8):c.*83A>G SNV Likely Benign
314806 rs147325843 GRCh37: 14:89343837-89343837
GRCh38: 14:88877493-88877493
44 TTC8 NM_144596.4(TTC8):c.*93G>A SNV Likely Benign
885017 rs116740320 GRCh37: 14:89343847-89343847
GRCh38: 14:88877503-88877503
45 TTC8 NM_144596.4(TTC8):c.1401G>A (p.Pro467=) SNV Likely Benign
262513 rs114064158 GRCh37: 14:89341423-89341423
GRCh38: 14:88875079-88875079
46 TTC8 NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) SNV Likely Benign
262515 rs114557412 GRCh37: 14:89305845-89305845
GRCh38: 14:88839501-88839501
47 TTC8 NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) SNV Likely Benign
437079 rs142938748 GRCh37: 14:89338702-89338702
GRCh38: 14:88872358-88872358
48 TTC8 NM_144596.4(TTC8):c.1464G>C (p.Ala488=) SNV Likely Benign
215548 rs142073418 GRCh37: 14:89343670-89343670
GRCh38: 14:88877326-88877326
49 TTC8 NM_144596.4(TTC8):c.330-15T>A SNV Benign
314799 rs187484893 GRCh37: 14:89307366-89307366
GRCh38: 14:88841022-88841022
50 TTC8 NM_144596.4(TTC8):c.1432-12T>C SNV Benign
262514 rs79747892 GRCh37: 14:89343626-89343626
GRCh38: 14:88877282-88877282

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:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor connecting cilium GO:0032391 8.92 TTC8 SPATA7

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

# Name GO ID Score Top Affiliating Genes
1 non-motile cilium assembly GO:1905515 9.26 VANGL2 TTC8
2 establishment of planar polarity GO:0001736 8.92 VANGL2 TTC8

Sources for Bardet-Biedl Syndrome 8

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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