BBS5
MCID: BRD017
MIFTS: 37

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 56 12 52 73 29 6 15 17 71
Bbs5 56 12 73
Bardet-Biedl Syndrome, Type 5 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
bardet-biedl syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110127
OMIM 56 615983
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
UMLS 71 C3892039

Summaries for Bardet-Biedl Syndrome 5

OMIM : 56 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 retinitis pigmentosa and fundus dystrophy. An important gene associated with Bardet-Biedl Syndrome 5 is BBS5 (Bardet-Biedl Syndrome 5). Affiliated tissues include heart, eye and retina, 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 : 73 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 39)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa 11.4
2 fundus dystrophy 11.4
3 joubert syndrome 1 11.2
4 meckel syndrome, type 1 11.2
5 retinal disease 11.2
6 alstrom syndrome 11.1
7 laurence-moon syndrome 11.1
8 bardet-biedl syndrome 3 11.1
9 bardet-biedl syndrome 6 11.1
10 night blindness, congenital stationary, autosomal dominant 3 11.1
11 bardet-biedl syndrome 8 11.1
12 bardet-biedl syndrome 11 11.1
13 bardet-biedl syndrome 13 11.1
14 bardet-biedl syndrome 14 11.1
15 bardet-biedl syndrome 15 11.1
16 bardet-biedl syndrome 16 11.1
17 bardet-biedl syndrome 17 11.1
18 bardet-biedl syndrome 18 11.1
19 bardet-biedl syndrome 19 11.1
20 nephronophthisis 11.1
21 leber congenital amaurosis 11.1
22 bardet-biedl syndrome 10.4
23 hypogonadism 10.2
24 hypogonadotropism 10.2
25 retinal degeneration 10.2
26 ciliopathy 10.2
27 bardet-biedl syndrome 1 10.1
28 hypogonadism, male 10.1
29 polydactyly 10.1
30 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 10.1
31 intraocular pressure quantitative trait locus 10.1
32 alacrima, achalasia, and mental retardation syndrome 10.1
33 bardet-biedl syndrome 4 10.1
34 autosomal recessive disease 10.1
35 cone dystrophy 10.1
36 neuroretinitis 10.1
37 retinitis 10.1
38 inherited retinal disorder 10.1
39 primary ciliary dyskinesia 9.0 TEKT4 RSPH1 ROPN1L

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:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 polydactyly 31 occasional (7.5%) HP:0010442
2 obesity 31 HP:0001513
3 brachydactyly 31 HP:0001156
4 rod-cone dystrophy 31 HP:0000510
5 cognitive impairment 31 HP:0100543
6 hypogonadism 31 HP:0000135
7 external genital hypoplasia 31 HP:0003241
8 macular dystrophy 31 HP:0007754
9 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Neurologic Central Nervous System:
cognitive impairment

Head And Neck Eyes:
macular dystrophy
retinitis pigmentosa

Skeletal Hands:
brachydactyly
syndactyly
polydactyly (in some patients)

Genitourinary External Genitalia Male:
hypogonadism
hypogenitalism

Genitourinary Kidneys:
renal abnormalities

Clinical features from OMIM:

615983

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:

40
Heart, Eye, Retina, Kidney, Testes

Publications for Bardet-Biedl Syndrome 5

Articles related to Bardet-Biedl Syndrome 5:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. 61 56 6
18203199 2008
2
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. 61 56 6
15137946 2004
3
Bardet-Biedl Syndrome 61 6
20301537 2003
4
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 56
25982971 2015
5
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 56
19252258 2009
6
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 56
15637713 2005
7
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6
12567324 2003
8
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 56
10973251 2000
9
A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. 56
10053027 1999
10
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. 61
31888296 2019
11
Generation and characterization of three isogenic induced pluripotent stem cell lines from a patient with Bardet-Biedl syndrome and homozygous for the BBS5 variant. 61
31760295 2019
12
ERICH3 in Primary Cilia Regulates Cilium Formation and the Localisations of Ciliary Transport and Sonic Hedgehog Signaling Proteins. 61
31712586 2019
13
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. 61
31173343 2019
14
Identification of genes involved in glaucoma pathogenesis using combined network analysis and empirical studies. 61
31518395 2019
15
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. 61
30901771 2019
16
Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. 61
30850397 2019
17
Protein profile of Dabry's sturgeon (Acipenser dabryanus) spermatozoa and relationship to sperm quality. 61
30587384 2019
18
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. 61
29806606 2018
19
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. 61
29126234 2018
20
Expression of CXCL6 and BBS5 that may be glaucoma relevant genes is regulated by PITX2. 61
27520585 2016
21
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. 61
27708425 2016
22
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 61
27486776 2016
23
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina. 61
26867008 2016
24
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
25
BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors. 61
26150102 2015
26
¹H NMR metabolic profiling of plasma reveals additional phenotypes in knockout mouse models. 61
25849460 2015
27
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. 61
25552655 2015
28
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. 61
26325687 2015
29
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. 61
24939912 2014
30
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 61
23432027 2014
31
Functional modelling of a novel mutation in BBS5. 61
24559376 2014
32
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. 61
24550735 2014
33
Light-dependent phosphorylation of Bardet-Biedl syndrome 5 in photoreceptor cells modulates its interaction with arrestin1. 61
23817741 2013
34
Structure and Expression Analyses of SVA Elements in Relation to Functional Genes. 61
24124410 2013
35
Genome-wide association study in a Chinese population with diabetic retinopathy. 61
23562823 2013
36
The BBSome controls IFT assembly and turnaround in cilia. 61
22922713 2012
37
Genotype-phenotype correlations in Bardet-Biedl syndrome. 61
22410627 2012
38
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 61
22500027 2012
39
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. 61
22072986 2011
40
Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins. 61
21152952 2011
41
Identification of a novel SEREX antigen family, ECSA, in esophageal squamous cell carcinoma. 61
21696638 2011
42
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. 61
21496248 2011
43
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 61
20472660 2010
44
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. 61
17379567 2007
45
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. 61
16877420 2006
46
Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. 61
16723438 2006
47
Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. 61
16368877 2006
48
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. 61
16399798 2006
49
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 61
16104012 2005
50
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 61
15666242 2005

Variations for Bardet-Biedl Syndrome 5

ClinVar genetic disease variations for Bardet-Biedl Syndrome 5:

6 (show all 12) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBS5 NM_152384.3(BBS5):c.522+3A>GSNV Pathogenic 6157 rs587777828 2:170349522-170349522 2:169493012-169493012
2 BBS5 NM_152384.3(BBS5):c.425T>A (p.Leu142Ter)SNV Pathogenic 6158 2:170349422-170349422 2:169492912-169492912
3 BBS5 BBS5, 8-BP DEL/7-BP INS, NT263indel Pathogenic 6159
4 BBS5 NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)SNV Pathogenic 6160 rs767221160 2:170343613-170343613 2:169487103-169487103
5 BBS5 NM_152384.3(BBS5):c.214G>A (p.Gly72Ser)SNV Pathogenic 6161 rs121908581 2:170344321-170344321 2:169487811-169487811
6 BBS5 NM_152384.3(BBS5):c.547A>G (p.Thr183Ala)SNV Pathogenic 6162 rs121908582 2:170350275-170350275 2:169493765-169493765
7 BBS5 NM_152384.3(BBS5):c.209-2A>GSNV Pathogenic 560430 rs1477098739 2:170344314-170344314 2:169487804-169487804
8 BBS5 NM_152384.3(BBS5):c.258+2T>CSNV Pathogenic 560431 rs1559122157 2:170344367-170344367 2:169487857-169487857
9 BBS5 NM_152384.3(BBS5):c.143-1G>CSNV Likely pathogenic 569727 rs1054138918 2:170343578-170343578 2:169487068-169487068
10 BBS5 NM_152384.3(BBS5):c.386+1G>TSNV Likely pathogenic 635028 rs1559122277 2:170344625-170344625 2:169488115-169488115
11 BBS5 NM_152384.3(BBS5):c.966dup (p.Ala323fs)duplication Likely pathogenic 434496 rs1553529427 2:170361030-170361031 2:169504520-169504521
12 BBS5 NM_152384.3(BBS5):c.751A>G (p.Asn251Asp)SNV Uncertain significance 412295 rs143113298 2:170356065-170356065 2:169499555-169499555

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

73
# 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

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 cell projection GO:0042995 9.56 TEKT4 RSPH1 ROPN1L BBS5
2 sperm flagellum GO:0036126 9.16 TEKT4 RSPH1
3 motile cilium GO:0031514 9.13 TEKT4 RSPH1 ROPN1L
4 cilium GO:0005929 8.92 TEKT4 RSPH1 ROPN1L BBS5

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 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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