BBS5
MCID: BRD017
MIFTS: 42

Bardet-Biedl Syndrome 5 (BBS5)

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 5

MalaCards integrated aliases for Bardet-Biedl Syndrome 5:

Name: Bardet-Biedl Syndrome 5 57 12 53 74 29 6 15 17 72
Bbs5 57 12 74
Bardet-Biedl Syndrome, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
bardet-biedl syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110127
MeSH 44 D020788
ICD10 33 Q87.89
UMLS 72 C3892039

Summaries for Bardet-Biedl Syndrome 5

OMIM : 57 BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615983)

MalaCards based summary : Bardet-Biedl Syndrome 5, also known as bbs5, is related to bardet-biedl syndrome 8 and bardet-biedl syndrome 3. An important gene associated with Bardet-Biedl Syndrome 5 is BBS5 (Bardet-Biedl Syndrome 5), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include heart, retina and testes, and related phenotypes are polydactyly and obesity

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS5 gene on chromosome 2q31.

UniProtKB/Swiss-Prot : 74 Bardet-Biedl syndrome 5: 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.

Related Diseases for Bardet-Biedl Syndrome 5

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 8 32.4 BBS5 BBS2
2 bardet-biedl syndrome 3 32.3 BBS5 BBS2
3 fundus dystrophy 31.4 RHO BBS5 BBS2
4 retinitis pigmentosa 28.2 SAG RHO MDH1 BBS2 ARL3
5 cone-rod dystrophy 12 11.3
6 nephronophthisis 15 11.3
7 bardet-biedl syndrome 11 11.3
8 bardet-biedl syndrome 10.4
9 hypogonadism 10.2
10 hypogonadotropism 10.2
11 retinal degeneration 10.2
12 ciliopathy 10.2
13 bardet-biedl syndrome 1 10.1
14 hypogonadism, male 10.1
15 polydactyly 10.1
16 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 10.1
17 intraocular pressure quantitative trait locus 10.1
18 alacrima, achalasia, and mental retardation syndrome 10.1
19 bardet-biedl syndrome 4 10.1
20 cone dystrophy 10.1
21 neuroretinitis 10.1
22 retinitis 10.1
23 inherited retinal disorder 10.1
24 melanoma-associated retinopathy 9.8 SAG RHO
25 pineocytoma 9.8 SAG RHO
26 cancer-associated retinopathy 9.8 SAG RHO
27 autoimmune disease of eyes, ear, nose and throat 9.7 SAG RHO
28 oguchi disease 9.7 SAG RHO
29 pineal parenchymal tumor of intermediate differentiation 9.5 SAG RHO
30 bardet-biedl syndrome 17 9.3 RHO BBS2

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 5:



Diseases related to Bardet-Biedl Syndrome 5

Symptoms & Phenotypes for Bardet-Biedl Syndrome 5

Human phenotypes related to Bardet-Biedl Syndrome 5:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 polydactyly 32 occasional (7.5%) HP:0010442
2 obesity 32 HP:0001513
3 cognitive impairment 32 HP:0100543
4 hypogonadism 32 HP:0000135
5 brachydactyly 32 HP:0001156
6 rod-cone dystrophy 32 HP:0000510
7 macular dystrophy 32 HP:0007754
8 syndactyly 32 HP:0001159
9 external genital hypoplasia 32 HP:0003241

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism
hypogenitalism

Head And Neck Eyes:
macular dystrophy
retinitis pigmentosa

Neurologic Central Nervous System:
cognitive impairment

Skeletal Hands:
brachydactyly
syndactyly
polydactyly (in some patients)

Genitourinary Kidneys:
renal abnormalities

Clinical features from OMIM:

615983

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 ARL3 BBS2 PITX2 RHO SAG

Drugs & Therapeutics for Bardet-Biedl Syndrome 5

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 5

Genetic Tests for Bardet-Biedl Syndrome 5

Genetic tests related to Bardet-Biedl Syndrome 5:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 5 29 BBS5

Anatomical Context for Bardet-Biedl Syndrome 5

MalaCards organs/tissues related to Bardet-Biedl Syndrome 5:

41
Heart, Retina, Testes, Kidney, Eye

Publications for Bardet-Biedl Syndrome 5

Articles related to Bardet-Biedl Syndrome 5:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. 38 8 71
18203199 2008
2
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. 38 8 71
15137946 2004
3
Bardet-Biedl Syndrome 38 71
20301537 2003
4
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 8
25982971 2015
5
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 8
19252258 2009
6
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 8
15637713 2005
7
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 71
12567324 2003
8
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 8
10973251 2000
9
A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. 8
10053027 1999
10
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. 38
31173343 2019
11
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. 38
30901771 2019
12
Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. 38
30850397 2019
13
Protein profile of Dabry's sturgeon (Acipenser dabryanus) spermatozoa and relationship to sperm quality. 38
30587384 2019
14
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. 38
29806606 2018
15
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. 38
29126234 2018
16
Expression of CXCL6 and BBS5 that may be glaucoma relevant genes is regulated by PITX2. 38
27520585 2016
17
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. 38
27708425 2016
18
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 38
27486776 2016
19
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina. 38
26867008 2016
20
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
21
BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors. 38
26150102 2015
22
¹H NMR metabolic profiling of plasma reveals additional phenotypes in knockout mouse models. 38
25849460 2015
23
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. 38
25552655 2015
24
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. 38
26325687 2015
25
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. 38
24939912 2014
26
Functional modelling of a novel mutation in BBS5. 38
24559376 2014
27
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. 38
24550735 2014
28
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 38
23432027 2014
29
Light-dependent phosphorylation of Bardet-Biedl syndrome 5 in photoreceptor cells modulates its interaction with arrestin1. 38
23817741 2013
30
Structure and Expression Analyses of SVA Elements in Relation to Functional Genes. 38
24124410 2013
31
Genome-wide association study in a Chinese population with diabetic retinopathy. 38
23562823 2013
32
The BBSome controls IFT assembly and turnaround in cilia. 38
22922713 2012
33
Genotype-phenotype correlations in Bardet-Biedl syndrome. 38
22410627 2012
34
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 38
22500027 2012
35
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. 38
22072986 2011
36
Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins. 38
21152952 2011
37
Identification of a novel SEREX antigen family, ECSA, in esophageal squamous cell carcinoma. 38
21696638 2011
38
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. 38
21496248 2011
39
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 38
20472660 2010
40
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. 38
17379567 2007
41
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. 38
16877420 2006
42
Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. 38
16723438 2006
43
Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. 38
16368877 2006
44
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. 38
16399798 2006
45
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 38
16104012 2005
46
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 38
15666242 2005
47
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 38
15690372 2005
48
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 38
12524598 2003
49
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 38
12118255 2002
50
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. 38
12107442 2002

Variations for Bardet-Biedl Syndrome 5

ClinVar genetic disease variations for Bardet-Biedl Syndrome 5:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BBS5 NM_152384.3(BBS5): c.209-2A> G single nucleotide variant Pathogenic 2:170344314-170344314 2:169487804-169487804
2 BBS5 NM_152384.3(BBS5): c.258+2T> C single nucleotide variant Pathogenic 2:170344367-170344367 2:169487857-169487857
3 BBS5 NM_152384.3(BBS5): c.522+3A> G single nucleotide variant Pathogenic rs587777828 2:170349522-170349522 2:169493012-169493012
4 BBS5 BBS5, LEU142TER undetermined variant Pathogenic
5 BBS5 BBS5, 8-BP DEL/7-BP INS, NT263 indel Pathogenic
6 BBS5 NM_152384.3(BBS5): c.177G> A (p.Trp59Ter) single nucleotide variant Pathogenic 2:170343613-170343613 2:169487103-169487103
7 BBS5 NM_152384.3(BBS5): c.214G> A (p.Gly72Ser) single nucleotide variant Pathogenic rs121908581 2:170344321-170344321 2:169487811-169487811
8 BBS5 NM_152384.3(BBS5): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs121908582 2:170350275-170350275 2:169493765-169493765
9 BBS5 NM_152384.3(BBS5): c.143-1G> C single nucleotide variant Likely pathogenic 2:170343578-170343578 2:169487068-169487068
10 BBS5 NM_152384.3(BBS5): c.386+1G> T single nucleotide variant Likely pathogenic 2:170344625-170344625 2:169488115-169488115
11 BBS5 NM_152384.3(BBS5): c.966dup (p.Ala323fs) duplication Likely pathogenic rs1553529427 2:170361032-170361032 2:169504522-169504522
12 BBS5 NM_152384.3(BBS5): c.751A> G (p.Asn251Asp) single nucleotide variant Uncertain significance rs143113298 2:170356065-170356065 2:169499555-169499555

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 5:

74
# Symbol AA change Variation ID SNP ID
1 BBS5 p.Gly72Ser VAR_066290 rs121908581
2 BBS5 p.Thr183Ala VAR_072380 rs121908582

Expression for Bardet-Biedl Syndrome 5

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 5.

Pathways for Bardet-Biedl Syndrome 5

Pathways related to Bardet-Biedl Syndrome 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 RHO BBS5 BBS2 ARL3
2
Show member pathways
10.95 RHO BBS5 BBS2 ARL3

GO Terms for Bardet-Biedl Syndrome 5

Cellular components related to Bardet-Biedl Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.73 BBS5 BBS2 ARL3 ACTG1
2 motile cilium GO:0031514 9.46 TEKT4 RSPH1 ROPN1L BBS2
3 ciliary membrane GO:0060170 9.43 RHO BBS5 BBS2
4 cilium GO:0005929 9.43 TEKT4 RSPH1 ROPN1L BBS5 BBS2 ARL3
5 sperm flagellum GO:0036126 9.4 TEKT4 RSPH1
6 photoreceptor inner segment GO:0001917 9.37 SAG RHO
7 BBSome GO:0034464 9.32 BBS5 BBS2
8 cell projection GO:0042995 9.23 TEKT4 SAG RSPH1 ROPN1L RHO BBS5

Biological processes related to Bardet-Biedl Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.54 RHO BBS5 BBS2
2 cell projection organization GO:0030030 9.5 TEKT4 BBS5 BBS2
3 photoreceptor cell maintenance GO:0045494 9.4 RHO BBS2
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 SAG RHO
5 melanosome transport GO:0032402 9.16 BBS5 BBS2
6 rhodopsin mediated signaling pathway GO:0016056 8.96 SAG RHO
7 cilium assembly GO:0060271 8.92 TEKT4 BBS5 BBS2 ARL3

Molecular functions related to Bardet-Biedl Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.4 TEKT4 RSPH1 ROPN1L RHO PITX2 MDH1
2 RNA polymerase II repressing transcription factor binding GO:0001103 8.96 BBS5 BBS2

Sources for Bardet-Biedl Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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