BBS9
MCID: BRD021
MIFTS: 32

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 57 12 53 74 29 6 17 72
Bbs9 57 12 74
Bardet-Biedl Syndrome, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

32
bardet-biedl syndrome 9:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:0110131
MeSH 44 D020788
ICD10 33 Q87.89
MedGen 42 C1859567
UMLS 72 C1859567

Summaries for Bardet-Biedl Syndrome 9

UniProtKB/Swiss-Prot : 74 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 bardet-biedl syndrome 3. An important gene associated with Bardet-Biedl Syndrome 9 is BBS9 (Bardet-Biedl Syndrome 9). 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 : 57 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 28)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 1 11.7
2 bardet-biedl syndrome 3 11.4
3 nephronophthisis 15 11.3
4 bardet-biedl syndrome 11 11.3
5 bardet-biedl syndrome 14 11.3
6 bardet-biedl syndrome 17 11.3
7 bardet-biedl syndrome 10.4
8 craniosynostosis 10.3
9 polydactyly, postaxial, type a1 10.2
10 retinitis pigmentosa 10.2
11 polydactyly 10.2
12 cone dystrophy 10.2
13 neuroretinitis 10.2
14 retinitis 10.2
15 hypotonia 10.2
16 alacrima, achalasia, and mental retardation syndrome 10.2
17 mckusick-kaufman syndrome 10.1
18 nephronophthisis 1 10.1
19 bardet-biedl syndrome 2 10.1
20 bardet-biedl syndrome 4 10.1
21 bardet-biedl syndrome 5 10.1
22 bardet-biedl syndrome 7 10.1
23 bardet-biedl syndrome 10 10.1
24 bardet-biedl syndrome 12 10.1
25 synpolydactyly 10.1
26 retinal degeneration 10.1
27 learning disability 10.1
28 ciliopathy 10.1

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:

32
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 intellectual disability 32 HP:0001249
3 rod-cone dystrophy 32 HP:0000510
4 polydactyly 32 HP:0010442

Symptoms via clinical synopsis from OMIM:

57
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:

41
Heart, Kidney, Testes, Bone, Breast

Publications for Bardet-Biedl Syndrome 9

Articles related to Bardet-Biedl Syndrome 9:

(show all 40)
# Title Authors PMID Year
1
In search of triallelism in Bardet-Biedl syndrome. 38 8 71
22353939 2012
2
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. 38 8 71
16380913 2005
3
Bardet-Biedl Syndrome 38 71
20301537 2003
4
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 71
12567324 2003
5
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene. 38
31294530 2019
6
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. 38
31283077 2019
7
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]. 38
30777729 2019
8
Nonsyndromic craniosynostosis: novel coding variants. 38
30651579 2019
9
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. 38
30678657 2019
10
Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome. 38
30231021 2018
11
BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche. 38
29674126 2018
12
Genetic variants and acute kidney injury: A review of the literature. 38
29161666 2018
13
Genomic selection signatures in sheep from the Western Pyrenees. 38
29566643 2018
14
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. 38
29806606 2018
15
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. 38
29590217 2018
16
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion. 38
29367880 2018
17
A variant associated with sagittal nonsyndromic craniosynostosis alters the regulatory function of a non-coding element. 38
28985029 2017
18
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. 38
28624958 2017
19
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity. 38
28663568 2017
20
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. 38
27708425 2016
21
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 38
27486776 2016
22
Limited but durable changes to cellular gene expression in a model of latent adenovirus infection are reflected in childhood leukemic cell lines. 38
27085068 2016
23
Depletion of BBS Protein LZTFL1 Affects Growth and Causes Retinal Degeneration in Mice. 38
27312011 2016
24
Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat. 38
26480920 2016
25
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome. 38
26846096 2016
26
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. 38
26518167 2015
27
Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci. 38
26083657 2015
28
Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9). 38
26085087 2015
29
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. 38
24849935 2014
30
Polarity gene alterations in pure invasive micropapillary carcinomas of the breast. 38
24887297 2014
31
Common FSNP variants of fourteen Bardet-Biedl syndrome genes and adult body mass. 38
23404957 2013
32
A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. 38
23160099 2012
33
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 38
22500027 2012
34
Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. 38
22479622 2012
35
Pentapeptide sharing between Corynebacterium diphtheria toxin and the human neural protein network. 38
20874613 2011
36
Capitalizing on admixture in genome-wide association studies: a two-stage testing procedure and application to height in African-Americans. 38
21754915 2011
37
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 38
20472660 2010
38
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 38
20120035 2010
39
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. 38
17379567 2007
40
Application of DNA microarrays in the study of human obesity and type 2 diabetes. 38
17411394 2007

Variations for Bardet-Biedl Syndrome 9

ClinVar genetic disease variations for Bardet-Biedl Syndrome 9:

6 (show all 13)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BBS9 NM_198428.3(BBS9): c.445C> T (p.Arg149Ter) single nucleotide variant Pathogenic rs781174906 7:33296850-33296850 7:33257238-33257238
2 BBS9 NM_014451.3(BBS9) deletion Pathogenic 7:33295173-33303394 7:33255561-33263782
3 BBS9 NM_198428.2(BBS9): c.102_112+2delAAATGGACAAGGT deletion Pathogenic rs869025208 7:33185966-33185978 7:33146354-33146366
4 BBS9 NM_198428.3(BBS9): c.1759C> T (p.Arg587Ter) single nucleotide variant Pathogenic rs746797123 7:33407444-33407444 7:33367832-33367832
5 BBS9 NM_198428.3(BBS9): c.1877_1880del (p.Lys626fs) deletion Pathogenic rs606231137 7:33423365-33423368 7:33383753-33383756
6 BBS9 NM_198428.3(BBS9): c.1063C> T (p.Gln355Ter) single nucleotide variant Pathogenic rs137852858 7:33376099-33376099 7:33336487-33336487
7 BBS9 NM_198428.3(BBS9): c.421G> A (p.Gly141Arg) single nucleotide variant Pathogenic rs137852857 7:33217182-33217182 7:33177570-33177570
8 BBS9 NM_198428.3(BBS9): c.2045dup (p.Arg683fs) duplication Pathogenic rs587777810 7:33427686-33427686 7:33388074-33388074
9 BBS9 NM_198428.3(BBS9): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs137852856 7:33423280-33423280 7:33383668-33383668
10 BBS9 NM_198428.3(BBS9): c.1789+1G> A single nucleotide variant Pathogenic rs201938124 7:33407475-33407475 7:33367863-33367863
11 BBS9 NM_198428.3(BBS9): c.442+1G> C single nucleotide variant Pathogenic rs587777811 7:33217204-33217204 7:33177592-33177592
12 BBS9 NM_198428.3(BBS9): c.785T> C (p.Val262Ala) single nucleotide variant Likely pathogenic rs886039875 7:33312706-33312706 7:33273094-33273094
13 BBS9 NM_198428.3(BBS9): c.1812del (p.Glu604fs) deletion Uncertain significance 7:33423298-33423299 7:33383688-33383688

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

74
# 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

GO Terms for Bardet-Biedl Syndrome 9

Sources for Bardet-Biedl Syndrome 9

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