BBS5
MCID: BRD017
MIFTS: 38

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 20 72 29 6 15 17 70
Bbs5 57 12 72
Bardet-Biedl Syndrome, Type 5 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
bardet-biedl syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110127
OMIM® 57 615983
OMIM Phenotypic Series 57 PS209900
MeSH 44 D020788
ICD10 32 Q87.89
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Bardet-Biedl Syndrome 5, also known as bbs5, is related to primary ciliary dyskinesia and polydactyly. An important gene associated with Bardet-Biedl Syndrome 5 is BBS5 (Bardet-Biedl Syndrome 5). Affiliated tissues include eye, kidney 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 : 72 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 47)
# Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 30.1 TEKT4 RSPH1 ROPN1L BBS5
2 polydactyly 11.1
3 cone dystrophy 11.1
4 bardet-biedl syndrome 1 11.0
5 fundus dystrophy 11.0
6 joubert syndrome 1 11.0
7 meckel syndrome, type 1 11.0
8 polycystic kidney disease 11.0
9 retinal disease 11.0
10 retinitis pigmentosa 10.9
11 alstrom syndrome 10.8
12 ventriculomegaly with cystic kidney disease 10.8
13 mckusick-kaufman syndrome 10.8
14 senior-loken syndrome 1 10.8
15 bardet-biedl syndrome 3 10.8
16 bardet-biedl syndrome 6 10.8
17 night blindness, congenital stationary, autosomal dominant 3 10.8
18 bardet-biedl syndrome 8 10.8
19 bardet-biedl syndrome 11 10.8
20 bardet-biedl syndrome 13 10.8
21 bardet-biedl syndrome 14 10.8
22 bardet-biedl syndrome 15 10.8
23 bardet-biedl syndrome 16 10.8
24 bardet-biedl syndrome 17 10.8
25 bardet-biedl syndrome 18 10.8
26 bardet-biedl syndrome 19 10.8
27 asphyxiating thoracic dystrophy 10.8
28 usher syndrome type 2 10.8
29 leber plus disease 10.8
30 nephronophthisis 10.8
31 bardet-biedl syndrome 10.3
32 hypogonadism 10.2
33 retinal degeneration 10.1
34 ciliopathy 10.1
35 triiodothyronine receptor auxiliary protein 9.9
36 hypogonadism, male 9.9
37 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 9.9
38 intraocular pressure quantitative trait locus 9.9
39 alacrima, achalasia, and mental retardation syndrome 9.9
40 bardet-biedl syndrome 4 9.9
41 brachydactyly 9.9
42 autosomal recessive disease 9.9
43 neuroretinitis 9.9
44 retinitis 9.9
45 infertility 9.9
46 craniofacial and skeletal defects 9.9
47 inherited retinal disorder 9.9

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 11)
# Description HPO Frequency HPO Source Accession
1 polydactyly 31 occasional (7.5%) HP:0010442
2 obesity 31 very rare (1%) HP:0001513
3 micropenis 31 very rare (1%) HP:0000054
4 reduced visual acuity 31 very rare (1%) HP:0007663
5 rod-cone dystrophy 31 very rare (1%) HP:0000510
6 macular dystrophy 31 very rare (1%) HP:0007754
7 cognitive impairment 31 HP:0100543
8 brachydactyly 31 HP:0001156
9 hypogonadism 31 HP:0000135
10 syndactyly 31 HP:0001159
11 external genital hypoplasia 31 HP:0003241

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
cognitive impairment

Skeletal Hands:
brachydactyly
syndactyly
polydactyly (in some patients)

Head And Neck Eyes:
macular dystrophy
retinitis pigmentosa

Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism
hypogenitalism

Genitourinary Kidneys:
renal abnormalities

Clinical features from OMIM®:

615983 (Updated 20-May-2021)

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
Eye, Kidney, Retina, Pituitary

Publications for Bardet-Biedl Syndrome 5

Articles related to Bardet-Biedl Syndrome 5:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. 6 57 61
18203199 2008
2
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. 61 6 57
15137946 2004
3
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. 6 61
26325687 2015
4
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 57
25982971 2015
5
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 57
19252258 2009
6
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. 57
15637713 2005
7
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 57
10973251 2000
8
A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31. 57
10053027 1999
9
A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities. 61
33560420 2021
10
BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. 61
33572860 2021
11
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome. 61
33517424 2021
12
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey. 61
32686083 2021
13
Novel compound heterozygous pathogenic BBS5 variants in Filipino siblings with Bardet-Biedl syndrome (BBS). 61
32811249 2020
14
BBSome Component BBS5 Is Required for Cone Photoreceptor Protein Trafficking and Outer Segment Maintenance. 61
32776140 2020
15
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. 61
31888296 2019
16
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
17
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. 61
31173343 2019
18
ERICH3 in Primary Cilia Regulates Cilium Formation and the Localisations of Ciliary Transport and Sonic Hedgehog Signaling Proteins. 61
31712586 2019
19
Identification of genes involved in glaucoma pathogenesis using combined network analysis and empirical studies. 61
31518395 2019
20
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. 61
30901771 2019
21
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
22
Protein profile of Dabry's sturgeon (Acipenser dabryanus) spermatozoa and relationship to sperm quality. 61
30587384 2019
23
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. 61
29806606 2018
24
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. 61
29126234 2018
25
Expression of CXCL6 and BBS5 that may be glaucoma relevant genes is regulated by PITX2. 61
27520585 2016
26
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. 61
27708425 2016
27
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 61
27486776 2016
28
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina. 61
26867008 2016
29
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
30
BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors. 61
26150102 2015
31
¹H NMR metabolic profiling of plasma reveals additional phenotypes in knockout mouse models. 61
25849460 2015
32
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. 61
25552655 2015
33
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. 61
24939912 2014
34
Functional modelling of a novel mutation in BBS5. 61
24559376 2014
35
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 61
23432027 2014
36
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. 61
24550735 2014
37
Light-dependent phosphorylation of Bardet-Biedl syndrome 5 in photoreceptor cells modulates its interaction with arrestin1. 61
23817741 2013
38
Structure and Expression Analyses of SVA Elements in Relation to Functional Genes. 61
24124410 2013
39
Genome-wide association study in a Chinese population with diabetic retinopathy. 61
23562823 2013
40
The BBSome controls IFT assembly and turnaround in cilia. 61
22922713 2012
41
Genotype-phenotype correlations in Bardet-Biedl syndrome. 61
22410627 2012
42
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 61
22500027 2012
43
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. 61
22072986 2011
44
Dopamine receptor 1 localizes to neuronal cilia in a dynamic process that requires the Bardet-Biedl syndrome proteins. 61
21152952 2011
45
Identification of a novel SEREX antigen family, ECSA, in esophageal squamous cell carcinoma. 61
21696638 2011
46
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. 61
21496248 2011
47
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 61
20472660 2010
48
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. 61
17379567 2007
49
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. 61
16877420 2006
50
Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. 61
16723438 2006

Variations for Bardet-Biedl Syndrome 5

ClinVar genetic disease variations for Bardet-Biedl Syndrome 5:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BBS5 NM_152384.3(BBS5):c.522+3A>G SNV Pathogenic 6157 rs587777828 GRCh37: 2:170349522-170349522
GRCh38: 2:169493012-169493012
2 BBS5 NM_152384.3(BBS5):c.425T>A (p.Leu142Ter) SNV Pathogenic 6158 rs1574339529 GRCh37: 2:170349422-170349422
GRCh38: 2:169492912-169492912
3 BBS5 BBS5, 8-BP DEL/7-BP INS, NT263 Indel Pathogenic 6159 GRCh37:
GRCh38:
4 BBS5 NM_152384.3(BBS5):c.177G>A (p.Trp59Ter) SNV Pathogenic 6160 rs767221160 GRCh37: 2:170343613-170343613
GRCh38: 2:169487103-169487103
5 BBS5 NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) SNV Pathogenic 6161 rs121908581 GRCh37: 2:170344321-170344321
GRCh38: 2:169487811-169487811
6 BBS5 NM_152384.3(BBS5):c.547A>G (p.Thr183Ala) SNV Pathogenic 6162 rs121908582 GRCh37: 2:170350275-170350275
GRCh38: 2:169493765-169493765
7 BBS5 NM_152384.3(BBS5):c.2T>A (p.Met1Lys) SNV Pathogenic 812118 rs767822498 GRCh37: 2:170336065-170336065
GRCh38: 2:169479555-169479555
8 BBS5 NM_152384.3(BBS5):c.619-1G>C SNV Pathogenic 812227 rs753234582 GRCh37: 2:170354136-170354136
GRCh38: 2:169497626-169497626
9 BBS5 NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) SNV Pathogenic 531823 rs772757329 GRCh37: 2:170344503-170344503
GRCh38: 2:169487993-169487993
10 BBS5 NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer) Deletion Pathogenic 1033147 GRCh37: 2:170356020-170356020
GRCh38: 2:169499510-169499510
11 BBS5 NM_152384.3(BBS5):c.258+2T>C SNV Pathogenic 560431 rs1559122157 GRCh37: 2:170344367-170344367
GRCh38: 2:169487857-169487857
12 BBS5 NM_152384.3(BBS5):c.209-2A>G SNV Pathogenic 560430 rs1477098739 GRCh37: 2:170344314-170344314
GRCh38: 2:169487804-169487804
13 BBS5 NM_152384.3(BBS5):c.966dup (p.Ala323fs) Duplication Likely pathogenic 434496 rs1553529427 GRCh37: 2:170361030-170361031
GRCh38: 2:169504520-169504521
14 BBS5 NM_152384.3(BBS5):c.143-1G>C SNV Likely pathogenic 569727 rs1054138918 GRCh37: 2:170343578-170343578
GRCh38: 2:169487068-169487068
15 BBS5 NM_152384.3(BBS5):c.386+1G>T SNV Likely pathogenic 635028 rs1559122277 GRCh37: 2:170344625-170344625
GRCh38: 2:169488115-169488115
16 BBS5 NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) SNV Uncertain significance 412295 rs143113298 GRCh37: 2:170356065-170356065
GRCh38: 2:169499555-169499555
17 BBS5 NM_152384.3(BBS5):c.472G>A (p.Glu158Lys) SNV Uncertain significance 1033146 GRCh37: 2:170349469-170349469
GRCh38: 2:169492959-169492959

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

72
# 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

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

# Name GO ID Score Top Affiliating Genes
1 flagellated sperm motility GO:0030317 8.62 TEKT4 ROPN1L

Sources for Bardet-Biedl Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....