BBS9
MCID: BRD021
MIFTS: 26

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 75 29 6 73
Bbs9 57 12 75
Bardet-Biedl Syndrome, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity


HPO:

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


Classifications:



External Ids:

OMIM 57 615986
Disease Ontology 12 DOID:0110131
ICD10 33 Q87.89
MedGen 42 C1859567
MeSH 44 D020788
UMLS 73 C1859567

Summaries for Bardet-Biedl Syndrome 9

UniProtKB/Swiss-Prot : 75 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 3 and nephronophthisis 15. An important gene associated with Bardet-Biedl Syndrome 9 is BBS9 (Bardet-Biedl Syndrome 9). Affiliated tissues include heart and eye, 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

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

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

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

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, Eye

Publications for Bardet-Biedl Syndrome 9

Articles related to Bardet-Biedl Syndrome 9:

# Title Authors Year
1
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a<i>Bardet-Biedl Syndrome 9</i>(<i>BBS9</i>) deletion. ( 29367880 )
2018
2
BBS9 gene in nonsyndromic craniosynostosis: Role of the primary cilium in the aberrant ossification of the suture osteogenic niche. ( 29674126 )
2018
3
Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9). ( 26085087 )
2015

Variations for Bardet-Biedl Syndrome 9

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

75
# Symbol AA change Variation ID SNP ID
1 BBS9 p.Gly141Arg VAR_026389 rs137852857

ClinVar genetic disease variations for Bardet-Biedl Syndrome 9:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS9 NM_198428.2(BBS9): c.2045dupC (p.Arg683Lysfs) duplication Pathogenic rs587777810 GRCh38 Chromosome 7, 33388074: 33388074
2 BBS9 NM_198428.2(BBS9): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs137852856 GRCh38 Chromosome 7, 33383668: 33383668
3 BBS9 NM_198428.2(BBS9): c.2045dupC (p.Arg683Lysfs) duplication Pathogenic rs587777810 GRCh37 Chromosome 7, 33427686: 33427686
4 BBS9 NM_198428.2(BBS9): c.1789+1G> A single nucleotide variant Pathogenic rs201938124 GRCh37 Chromosome 7, 33407475: 33407475
5 BBS9 NM_198428.2(BBS9): c.1789+1G> A single nucleotide variant Pathogenic rs201938124 GRCh38 Chromosome 7, 33367863: 33367863
6 BBS9 NM_198428.2(BBS9): c.1792C> T (p.Arg598Ter) single nucleotide variant Pathogenic rs137852856 GRCh37 Chromosome 7, 33423280: 33423280
7 BBS9 NM_198428.2(BBS9): c.421G> A (p.Gly141Arg) single nucleotide variant Pathogenic rs137852857 GRCh37 Chromosome 7, 33217182: 33217182
8 BBS9 NM_198428.2(BBS9): c.421G> A (p.Gly141Arg) single nucleotide variant Pathogenic rs137852857 GRCh38 Chromosome 7, 33177570: 33177570
9 BBS9 NM_198428.2(BBS9): c.1063C> T (p.Gln355Ter) single nucleotide variant Pathogenic rs137852858 GRCh37 Chromosome 7, 33376099: 33376099
10 BBS9 NM_198428.2(BBS9): c.1063C> T (p.Gln355Ter) single nucleotide variant Pathogenic rs137852858 GRCh38 Chromosome 7, 33336487: 33336487
11 BBS9 NM_198428.2(BBS9): c.442+1G> C single nucleotide variant Pathogenic rs587777811 GRCh38 Chromosome 7, 33177592: 33177592
12 BBS9 NM_198428.2(BBS9): c.442+1G> C single nucleotide variant Pathogenic rs587777811 GRCh37 Chromosome 7, 33217204: 33217204
13 BBS9 NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs) deletion Pathogenic rs606231137 GRCh38 Chromosome 7, 33383753: 33383756
14 BBS9 NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs) deletion Pathogenic rs606231137 GRCh37 Chromosome 7, 33423365: 33423368
15 BBS9 NM_014451.3(BBS9) deletion Pathogenic GRCh38 Chromosome 7, 33255561: 33263782
16 BBS9 NM_014451.3(BBS9) deletion Pathogenic GRCh37 Chromosome 7, 33295173: 33303394
17 BBS9 NM_198428.2(BBS9): c.102_112+2delAAATGGACAAGGT deletion Pathogenic rs869025208 GRCh37 Chromosome 7, 33185966: 33185978
18 BBS9 NM_198428.2(BBS9): c.102_112+2delAAATGGACAAGGT deletion Pathogenic rs869025208 GRCh38 Chromosome 7, 33146354: 33146366
19 BBS9 NM_198428.2(BBS9): c.1759C> T (p.Arg587Ter) single nucleotide variant Pathogenic rs746797123 GRCh37 Chromosome 7, 33407444: 33407444
20 BBS9 NM_198428.2(BBS9): c.1759C> T (p.Arg587Ter) single nucleotide variant Pathogenic rs746797123 GRCh38 Chromosome 7, 33367832: 33367832
21 BBS9 NM_198428.2(BBS9): c.785T> C (p.Val262Ala) single nucleotide variant Likely pathogenic rs886039875 GRCh37 Chromosome 7, 33312706: 33312706
22 BBS9 NM_198428.2(BBS9): c.785T> C (p.Val262Ala) single nucleotide variant Likely pathogenic rs886039875 GRCh38 Chromosome 7, 33273094: 33273094
23 BBS9 NM_198428.2(BBS9): c.1167delG (p.Ile391Serfs) deletion Pathogenic rs886042258 GRCh37 Chromosome 7, 33376203: 33376203
24 BBS9 NM_198428.2(BBS9): c.1167delG (p.Ile391Serfs) deletion Pathogenic rs886042258 GRCh38 Chromosome 7, 33336591: 33336591
25 BBS9 NM_198428.2(BBS9): c.445C> T (p.Arg149Ter) single nucleotide variant Pathogenic rs781174906 GRCh37 Chromosome 7, 33296850: 33296850
26 BBS9 NM_198428.2(BBS9): c.445C> T (p.Arg149Ter) single nucleotide variant Pathogenic rs781174906 GRCh38 Chromosome 7, 33257238: 33257238

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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