BBS11
MCID: BRD012
MIFTS: 51

Bardet-Biedl Syndrome 11 (BBS11)

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 11

MalaCards integrated aliases for Bardet-Biedl Syndrome 11:

Name: Bardet-Biedl Syndrome 11 58 12 54 76 30 6 15 74
Bbs11 58 12 54 76
Bardet-Biedl Syndrome 54 74
Bardet-Biedl Syndrome, Type 11 41
Bbs 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported with limited clinical information (last curated october 2014)


HPO:

33
bardet-biedl syndrome 11:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110133
OMIM 58 615988
MeSH 45 D020788
ICD10 34 Q87.89
MedGen 43 C1859569

Summaries for Bardet-Biedl Syndrome 11

UniProtKB/Swiss-Prot : 76 Bardet-Biedl syndrome 11: 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 11, also known as bbs11, is related to bardet-biedl syndrome 13 and bardet-biedl syndrome 14. An important gene associated with Bardet-Biedl Syndrome 11 is TRIM32 (Tripartite Motif Containing 32), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Hormone Antagonists and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and prostate, and related phenotypes are obesity and retinopathy

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in mutation in the TRIM32 gene on chromosome 9q33.

OMIM : 58 BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities (Chiang et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615988)

Related Diseases for Bardet-Biedl Syndrome 11

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

(show top 50) (show all 313)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 13 34.2 BBS12 TRIM32
2 bardet-biedl syndrome 14 34.1 BBS12 BBS9
3 bardet-biedl syndrome 3 34.0 BBS5 BBS9
4 fundus dystrophy 29.9 BBS12 BBS5
5 bardet-biedl syndrome 28.4 ASTN2 BBS12 BBS5 BBS9 TRIM32
6 bardet-biedl syndrome 1 13.1
7 bardet-biedl syndrome 4 13.0
8 bardet-biedl syndrome 7 13.0
9 bardet-biedl syndrome 5 13.0
10 bardet-biedl syndrome 9 13.0
11 bardet-biedl syndrome 6 13.0
12 bardet-biedl syndrome 8 13.0
13 bardet-biedl syndrome 17 12.9
14 bardet-biedl syndrome 16 12.9
15 bardet-biedl syndrome 19 12.9
16 bardet-biedl syndrome 18 12.9
17 bardet-biedl syndrome 20 12.9
18 bardet-biedl syndrome 21 12.9
19 bardet-biedl syndrome 15 12.8
20 alstrom syndrome 11.9
21 laurence-moon syndrome 11.9
22 vaginal atresia 11.7
23 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.5
24 biemond syndrome 11.4
25 nijmegen breakage syndrome 11.1
26 polydactyly 10.8
27 mckusick-kaufman syndrome 10.5
28 retinitis 10.5
29 situs inversus 10.5
30 diabetes mellitus 10.5
31 end stage renal failure 10.5
32 kidney disease 10.5
33 retinal degeneration 10.5
34 retinitis pigmentosa 10.4
35 leber congenital amaurosis 4 10.4
36 hirschsprung disease 1 10.3
37 polydactyly, postaxial, type a1 10.3
38 cone-rod dystrophy 16 10.3
39 chronic kidney failure 10.3
40 pathologic nystagmus 10.3
41 tropical calcific pancreatitis 10.3
42 diabetes mellitus, insulin-dependent 10.3
43 lymphopenia 10.3
44 neuropathy 10.2
45 fundus albipunctatus 10.2
46 renal cell carcinoma, nonpapillary 10.2
47 polycystic kidney disease 1 with or without polycystic liver disease 10.2
48 rheumatoid arthritis 10.2
49 thrombocytopenic purpura, autoimmune 10.2
50 autism 10.2

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 11:



Diseases related to Bardet-Biedl Syndrome 11

Symptoms & Phenotypes for Bardet-Biedl Syndrome 11

Human phenotypes related to Bardet-Biedl Syndrome 11:

33
# Description HPO Frequency HPO Source Accession
1 obesity 33 HP:0001513
2 retinopathy 33 HP:0000488
3 hypogonadism 33 HP:0000135
4 abnormality of the kidney 33 HP:0000077
5 polydactyly 33 HP:0010442

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism

Skeletal Feet:
polydactyly

Genitourinary Kidneys:
renal anomalies

Head And Neck Eyes:
retinopathy

Skeletal Hands:
polydactyly

Neurologic Central Nervous System:
learning disabilities

Clinical features from OMIM:

615988

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 11:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.8 BBS12 BBS5 BBS9

Drugs & Therapeutics for Bardet-Biedl Syndrome 11

Drugs for Bardet-Biedl Syndrome 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 3,Phase 2
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
3 Hormones Phase 3,Phase 2
4 alpha-MSH Phase 3,Phase 2 581-05-5
5 Liver Extracts
6 Insulin, Globin Zinc
7 insulin

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
2 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
3 Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement Withdrawn NCT03490019 Phase 2 Metformin
4 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
5 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
6 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
7 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
8 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
9 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
10 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
11 Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Terminated NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome 11

Genetic Tests for Bardet-Biedl Syndrome 11

Genetic tests related to Bardet-Biedl Syndrome 11:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 11 30 TRIM32

Anatomical Context for Bardet-Biedl Syndrome 11

MalaCards organs/tissues related to Bardet-Biedl Syndrome 11:

42
Kidney, Heart, Prostate, Liver, Brain, Bone, Pituitary

Publications for Bardet-Biedl Syndrome 11

Articles related to Bardet-Biedl Syndrome 11:

(show top 50) (show all 495)
# Title Authors Year
1
Acute myocardial infarction and haemodynamic stroke in a young patient with Bardet-Biedl syndrome. ( 31040148 )
2019
2
Characterization of Bardet-Biedl syndrome by postmortem microfocus computed tomography (micro-CT). ( 30079607 )
2019
3
Anesthetic Management of a Pediatric Patient With Bardet-Biedl Syndrome: A Case Report. ( 30234512 )
2019
4
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. ( 30293640 )
2019
5
Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation. ( 30446775 )
2019
6
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. ( 30484961 )
2019
7
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. ( 30614526 )
2019
8
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. ( 30723319 )
2019
9
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. ( 30761183 )
2019
10
Cutaneous findings in Bardet-Biedl syndrome. ( 30790276 )
2019
11
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. ( 30793792 )
2019
12
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome. ( 30839500 )
2019
13
Novel splicing variant c. 208+2T>C in  BBS5  segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. ( 30850397 )
2019
14
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. ( 30901771 )
2019
15
Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. ( 30902542 )
2019
16
Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report. ( 31022684 )
2019
17
Rarity of Laurence Moon Bardet Biedl Syndrome and its Poor Management in the Pakistani Population. ( 31058008 )
2019
18
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. ( 29126234 )
2018
19
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. ( 29127258 )
2018
20
Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes. ( 29232001 )
2018
21
The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export. ( 29339469 )
2018
22
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion. ( 29367880 )
2018
23
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population. ( 29409041 )
2018
24
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. ( 29445114 )
2018
25
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes. ( 29482283 )
2018
26
Managing Bardet-Biedl Syndrome-Now and in the Future. ( 29487844 )
2018
27
Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome. ( 29539623 )
2018
28
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. ( 29633607 )
2018
29
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. ( 29666954 )
2018
30
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. ( 29806606 )
2018
31
Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome. ( 29854508 )
2018
32
Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (Bbs1M390R/M390R): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation. ( 29971011 )
2018
33
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing. ( 30073714 )
2018
34
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. ( 30142598 )
2018
35
Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. ( 30312873 )
2018
36
A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome ( 30335236 )
2018
37
Ciliopathy: Bardet-Biedl Syndrome. ( 30578506 )
2018
38
[Bardet-Biedl syndrome and Kidney failure: a case report]. ( 29390243 )
2018
39
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome. ( 27879052 )
2017
40
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. ( 28143435 )
2017
41
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. ( 28237838 )
2017
42
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. ( 28352024 )
2017
43
Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing. ( 28396767 )
2017
44
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ( 28502102 )
2017
45
Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms. ( 28511423 )
2017
46
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336 )
2017
47
Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. ( 28566787 )
2017
48
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. ( 28624958 )
2017
49
Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease. ( 28662344 )
2017
50
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. ( 28761321 )
2017

Variations for Bardet-Biedl Syndrome 11

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 11:

76
# Symbol AA change Variation ID SNP ID
1 TRIM32 p.Pro130Ser VAR_038807 rs111033571

ClinVar genetic disease variations for Bardet-Biedl Syndrome 11:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRIM32 NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser) single nucleotide variant Pathogenic rs111033571 GRCh37 Chromosome 9, 119460409: 119460409
2 TRIM32 NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser) single nucleotide variant Pathogenic rs111033571 GRCh38 Chromosome 9, 116698130: 116698130
3 TRIM32 NM_012210.3(TRIM32): c.1222C> T (p.Arg408Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs3747835 GRCh37 Chromosome 9, 119461243: 119461243
4 TRIM32 NM_012210.3(TRIM32): c.1222C> T (p.Arg408Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs3747835 GRCh38 Chromosome 9, 116698964: 116698964
5 TRIM32 NM_012210.3(TRIM32): c.404C> T (p.Thr135Ile) single nucleotide variant Uncertain significance rs141953092 GRCh37 Chromosome 9, 119460425: 119460425
6 TRIM32 NM_012210.3(TRIM32): c.404C> T (p.Thr135Ile) single nucleotide variant Uncertain significance rs141953092 GRCh38 Chromosome 9, 116698146: 116698146
7 TRIM32 NM_012210.3(TRIM32): c.1168C> T (p.Arg390Cys) single nucleotide variant Uncertain significance rs754554333 GRCh37 Chromosome 9, 119461189: 119461189
8 TRIM32 NM_012210.3(TRIM32): c.1168C> T (p.Arg390Cys) single nucleotide variant Uncertain significance rs754554333 GRCh38 Chromosome 9, 116698910: 116698910

Expression for Bardet-Biedl Syndrome 11

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 11.

Pathways for Bardet-Biedl Syndrome 11

Pathways related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.86 BBS12 BBS5 BBS9
2
Show member pathways
10.83 BBS12 BBS5 BBS9

GO Terms for Bardet-Biedl Syndrome 11

Cellular components related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.5 BBS12 BBS5 BBS9
2 cilium GO:0005929 9.33 BBS12 BBS5 BBS9
3 ciliary membrane GO:0060170 9.26 BBS5 BBS9
4 centriolar satellite GO:0034451 8.96 BBS5 BBS9
5 BBSome GO:0034464 8.62 BBS5 BBS9

Biological processes related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.32 BBS5 BBS9
2 cilium assembly GO:0060271 9.26 BBS5 BBS9
3 cell projection organization GO:0030030 9.16 BBS5 BBS9
4 protein transport GO:0015031 9.13 ASTN2 BBS5 BBS9
5 fat cell differentiation GO:0045444 8.62 BBS9 TRIM32

Sources for Bardet-Biedl Syndrome 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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