BBS9
MCID: BRD021
MIFTS: 40

Bardet-Biedl Syndrome 9 (BBS9)

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 9

MalaCards integrated aliases for Bardet-Biedl Syndrome 9:

Name: Bardet-Biedl Syndrome 9 56 12 52 73 29 6 15 17 71
Bbs9 56 12 73
Bardet-Biedl Syndrome, Type 9 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

31
bardet-biedl syndrome 9:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0110131
OMIM 56 615986
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
MedGen 41 C1859567
UMLS 71 C1859567

Summaries for Bardet-Biedl Syndrome 9

UniProtKB/Swiss-Prot : 73 Bardet-Biedl syndrome 9: 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 9, also known as bbs9, is related to bardet-biedl syndrome 1 and craniosynostosis. An important gene associated with Bardet-Biedl Syndrome 9 is BBS9 (Bardet-Biedl Syndrome 9), and among its related pathways/superpathways is Olfactory transduction. Affiliated tissues include heart, kidney and testes, and related phenotypes are obesity and intellectual disability

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14.

OMIM : 56 BBS9 is an autosomal recessive disorder characterized by obesity, polydactyly, renal anomalies, retinopathy, and mental retardation (Abu-Safieh et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615986)

Related Diseases for Bardet-Biedl Syndrome 9

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 1 11.6
2 craniosynostosis 11.6
3 meckel syndrome, type 1 11.2
4 bardet-biedl syndrome 3 11.2
5 retinal disease 11.2
6 saethre-chotzen syndrome 11.1
7 carpenter syndrome 1 11.1
8 joubert syndrome 1 11.1
9 cranioectodermal dysplasia 1 11.1
10 muenke syndrome 11.1
11 bardet-biedl syndrome 6 11.1
12 night blindness, congenital stationary, autosomal dominant 3 11.1
13 bardet-biedl syndrome 8 11.1
14 bardet-biedl syndrome 11 11.1
15 bardet-biedl syndrome 13 11.1
16 bardet-biedl syndrome 14 11.1
17 bardet-biedl syndrome 15 11.1
18 bardet-biedl syndrome 16 11.1
19 bardet-biedl syndrome 17 11.1
20 bardet-biedl syndrome 18 11.1
21 bardet-biedl syndrome 19 11.1
22 fundus dystrophy 11.1
23 bardet-biedl syndrome 10.4
24 polydactyly, postaxial, type a1 10.2
25 retinitis pigmentosa 10.2
26 polydactyly 10.2
27 cone dystrophy 10.2
28 neuroretinitis 10.2
29 retinitis 10.2
30 hypotonia 10.2
31 alacrima, achalasia, and mental retardation syndrome 10.2
32 mckusick-kaufman syndrome 10.1
33 nephronophthisis 1 10.1
34 bardet-biedl syndrome 2 10.1
35 bardet-biedl syndrome 4 10.1
36 bardet-biedl syndrome 5 10.1
37 bardet-biedl syndrome 7 10.1
38 bardet-biedl syndrome 10 10.1
39 bardet-biedl syndrome 12 10.1
40 synpolydactyly 10.1
41 retinal degeneration 10.1
42 learning disability 10.1
43 ciliopathy 10.1
44 complex partial epilepsy 9.8 FIZ1 CORO2B

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 9:



Diseases related to Bardet-Biedl Syndrome 9

Symptoms & Phenotypes for Bardet-Biedl Syndrome 9

Human phenotypes related to Bardet-Biedl Syndrome 9:

31
# Description HPO Frequency HPO Source Accession
1 obesity 31 HP:0001513
2 intellectual disability 31 HP:0001249
3 rod-cone dystrophy 31 HP:0000510
4 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Skeletal Feet:
polydactyly

Head And Neck Eyes:
retinitis pigmentosa

Skeletal Hands:
polydactyly

Neurologic Central Nervous System:
mental retardation

Genitourinary Kidneys:
renal disease

Clinical features from OMIM:

615986

Drugs & Therapeutics for Bardet-Biedl Syndrome 9

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 9

Genetic Tests for Bardet-Biedl Syndrome 9

Genetic tests related to Bardet-Biedl Syndrome 9:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 9 29 BBS9

Anatomical Context for Bardet-Biedl Syndrome 9

MalaCards organs/tissues related to Bardet-Biedl Syndrome 9:

40
Heart, Kidney, Testes, Bone, Breast, Testis, Eye

Publications for Bardet-Biedl Syndrome 9

Articles related to Bardet-Biedl Syndrome 9:

(show all 47)
# Title Authors PMID Year
1
In search of triallelism in Bardet-Biedl syndrome. 61 56 6
22353939 2012
2
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. 61 56 6
16380913 2005
3
Bardet-Biedl Syndrome 61 6
20301537 2003
4
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6
12567324 2003
5
Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient. 61
32037757 2020
6
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. 61
31888296 2019
7
Pharmacogenomics and Placebo Response in a Randomized Clinical Trial in Asthma. 61
31557306 2019
8
Testis-enriched circular RNA circ-Bbs9 plays an important role in Leydig cell proliferation by regulating a CyclinD2-dependent pathway. 61
31708014 2019
9
Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex. 61
31530639 2019
10
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. 61
31283077 2019
11
Requirement of IFT-B-BBSome complex interaction in export of GPR161 from cilia. 61
31471295 2019
12
Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report. 61
31488071 2019
13
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene. 61
31294530 2019
14
Corrigendum to "BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche" [Bone 112 (July 2018) 58-70]. 61
30777729 2019
15
Nonsyndromic craniosynostosis: novel coding variants. 61
30651579 2019
16
Genome-wide association study of myocardial infarction, atrial fibrillation, acute stroke, acute kidney injury and delirium after cardiac surgery - a sub-analysis of the RIPHeart-Study. 61
30678657 2019
17
Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome. 61
30231021 2018
18
BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche. 61
29674126 2018
19
Genetic variants and acute kidney injury: A review of the literature. 61
29161666 2018
20
Genomic selection signatures in sheep from the Western Pyrenees. 61
29566643 2018
21
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. 61
29806606 2018
22
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion. 61
29367880 2018
23
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. 61
29590217 2018
24
A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element. 61
28985029 2017
25
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. 61
28624958 2017
26
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. 61
28663568 2017
27
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. 61
27708425 2016
28
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 61
27486776 2016
29
Limited but durable changes to cellular gene expression in a model of latent adenovirus infection are reflected in childhood leukemic cell lines. 61
27085068 2016
30
Depletion of BBS Protein LZTFL1 Affects Growth and Causes Retinal Degeneration in Mice. 61
27312011 2016
31
Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat. 61
26480920 2016
32
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. 61
26846096 2016
33
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. 61
26518167 2015
34
Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci. 61
26083657 2015
35
Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9). 61
26085087 2015
36
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. 61
24849935 2014
37
Polarity gene alterations in pure invasive micropapillary carcinomas of the breast. 61
24887297 2014
38
Common FSNP variants of fourteen Bardet-Biedl syndrome genes and adult body mass. 61
23404957 2013
39
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. 61
23160099 2012
40
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 61
22500027 2012
41
Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. 61
22479622 2012
42
Pentapeptide sharing between Corynebacterium diphtheria toxin and the human neural protein network. 61
20874613 2011
43
Capitalizing on admixture in genome-wide association studies: a two-stage testing procedure and application to height in African-Americans. 61
21754915 2011
44
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 61
20472660 2010
45
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 61
20120035 2010
46
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. 61
17379567 2007
47
Application of DNA microarrays in the study of human obesity and type 2 diabetes. 61
17411394 2007

Variations for Bardet-Biedl Syndrome 9

ClinVar genetic disease variations for Bardet-Biedl Syndrome 9:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBS9 NM_198428.3(BBS9):c.104_112+4deldeletion Pathogenic 217437 rs869025208 7:33185966-33185978 7:33146354-33146366
2 BBS9 NM_198428.3(BBS9):c.2045dup (p.Arg683fs)duplication Pathogenic 2658 rs587777810 7:33427685-33427686 7:33388073-33388074
3 BBS9 NM_198428.3(BBS9):c.1789+1G>ASNV Pathogenic 2656 rs201938124 7:33407475-33407475 7:33367863-33367863
4 BBS9 NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter)SNV Pathogenic 2657 rs137852856 7:33423280-33423280 7:33383668-33383668
5 BBS9 NM_198428.3(BBS9):c.421G>A (p.Gly141Arg)SNV Pathogenic 2659 rs137852857 7:33217182-33217182 7:33177570-33177570
6 BBS9 NM_198428.3(BBS9):c.1063C>T (p.Gln355Ter)SNV Pathogenic 2660 rs137852858 7:33376099-33376099 7:33336487-33336487
7 BBS9 NM_198428.3(BBS9):c.442+1G>CSNV Pathogenic 2661 rs587777811 7:33217204-33217204 7:33177592-33177592
8 BBS9 NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)deletion Pathogenic 2662 rs606231137 7:33423364-33423367 7:33383752-33383755
9 BBS9 NM_014451.3(BBS9):c.(443-1675_443-1116)_(618-986_618-508)deldeletion Pathogenic 31623 7:33295173-33303394 7:33255561-33263782
10 BBS9 NM_198428.3(BBS9):c.1759C>T (p.Arg587Ter)SNV Pathogenic 265771 rs746797123 7:33407444-33407444 7:33367832-33367832
11 BBS9 NM_198428.3(BBS9):c.445C>T (p.Arg149Ter)SNV Pathogenic 523079 rs781174906 7:33296850-33296850 7:33257238-33257238
12 BBS9 NM_198428.3(BBS9):c.1604G>A (p.Cys535Tyr)SNV Likely pathogenic 800929 7:33397518-33397518 7:33357906-33357906
13 BBS9 NM_198428.3(BBS9):c.785T>C (p.Val262Ala)SNV Likely pathogenic 265988 rs886039875 7:33312706-33312706 7:33273094-33273094
14 BBS9 NM_198428.3(BBS9):c.1812del (p.Glu604fs)deletion Uncertain significance 632504 rs1229015450 7:33423299-33423299 7:33383687-33383687
15 BBS9 NM_198428.3(BBS9):c.1329+1606C>TSNV Benign 802303 7:33385852-33385852 7:33346240-33346240

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 9:

73
# Symbol AA change Variation ID SNP ID
1 BBS9 p.Gly141Arg VAR_026389 rs137852857

Expression for Bardet-Biedl Syndrome 9

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 9.

Pathways for Bardet-Biedl Syndrome 9

Pathways related to Bardet-Biedl Syndrome 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.97 OR56B4 OR56A4 OR56A3 OR56A1 OR52W1

GO Terms for Bardet-Biedl Syndrome 9

Biological processes related to Bardet-Biedl Syndrome 9 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.97 OR56B4 OR56A4 OR56A3 OR56A1 OR52W1
2 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.58 OR56A4 OR56A1
3 positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway GO:0051482 9.56 OR56A4 OR56A1
4 regulation of dopamine secretion GO:0014059 9.55 OR56A4 OR56A1
5 detection of chemical stimulus involved in sensory perception of smell GO:0050911 9.55 OR56B4 OR56A4 OR56A3 OR56A1 OR52W1
6 negative regulation of adenylate cyclase activity GO:0007194 9.54 OR56A4 OR56A1
7 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.52 OR56A4 OR56A1
8 behavioral response to cocaine GO:0048148 9.51 OR56A4 OR56A1
9 synaptic transmission, dopaminergic GO:0001963 9.49 OR56A4 OR56A1
10 negative regulation of cytosolic calcium ion concentration GO:0051481 9.48 OR56A4 OR56A1
11 negative regulation of voltage-gated calcium channel activity GO:1901386 9.46 OR56A4 OR56A1
12 negative regulation of synaptic transmission, glutamatergic GO:0051967 9.43 OR56A4 OR56A1
13 behavioral response to ethanol GO:0048149 9.4 OR56A4 OR56A1
14 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.37 OR56A4 OR56A1
15 sensory perception of smell GO:0007608 9.35 OR56B4 OR56A4 OR56A3 OR56A1 OR52W1
16 regulation of potassium ion transport GO:0043266 9.32 OR56A4 OR56A1
17 adenylate cyclase-inhibiting dopamine receptor signaling pathway GO:0007195 9.26 OR56A4 OR56A1
18 response to stimulus GO:0050896 9.17 SLC24A1 OR56B4 OR56A4 OR56A3 OR56A1 OR52W1

Molecular functions related to Bardet-Biedl Syndrome 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor activity GO:0004930 9.72 OR56B4 OR56A4 OR56A3 OR56A1 OR52W1
2 adrenergic receptor activity GO:0004935 9.26 OR56A4 OR56A1
3 dopamine binding GO:0035240 9.16 OR56A4 OR56A1
4 olfactory receptor activity GO:0004984 9.02 OR56B4 OR56A4 OR56A3 OR56A1 OR52W1
5 dopamine neurotransmitter receptor activity, coupled via Gi/Go GO:0001591 8.96 OR56A4 OR56A1

Sources for Bardet-Biedl Syndrome 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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