BBS5
MCID: BRD017
MIFTS: 39

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 58 12 54 76 30 6 15 17 74
Bbs5 58 12 76
Bardet-Biedl Syndrome, Type 5 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
bardet-biedl syndrome 5:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 5

OMIM : 58 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 nephronophthisis 15 and cone-rod dystrophy 12. 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 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 : 76 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 20)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 15 32.2 BBS5 ENSG00000251569
2 cone-rod dystrophy 12 32.2 BBS5 ENSG00000251569
3 bardet-biedl syndrome 8 31.9 BBS2 BBS5
4 bardet-biedl syndrome 3 31.8 BBS2 BBS5
5 fundus dystrophy 30.8 BBS2 BBS5 ENSG00000251569 RHO
6 bardet-biedl syndrome 30.2 BBS2 BBS5 ENSG00000251569 MDH1
7 bardet-biedl syndrome 14 11.2
8 bardet-biedl syndrome 2 10.4
9 bardet-biedl syndrome 10 10.4
10 bardet-biedl syndrome 11 10.4
11 bardet-biedl syndrome 12 10.4
12 bardet-biedl syndrome 4 10.0
13 melanoma-associated retinopathy 9.9 RHO SAG
14 pineocytoma 9.9 RHO SAG
15 cancer-associated retinopathy 9.9 RHO SAG
16 autoimmune disease of eyes, ear, nose and throat 9.8 RHO SAG
17 oguchi disease 9.8 RHO SAG
18 pineal parenchymal tumor of intermediate differentiation 9.8 RHO SAG
19 bardet-biedl syndrome 17 9.4 BBS2 RHO
20 retinitis pigmentosa 9.0 ARL3 BBS2 MDH1 RHO SAG

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:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 polydactyly 33 occasional (7.5%) HP:0010442
2 obesity 33 HP:0001513
3 cognitive impairment 33 HP:0100543
4 hypogonadism 33 HP:0000135
5 brachydactyly 33 HP:0001156
6 rod-cone dystrophy 33 HP:0000510
7 macular dystrophy 33 HP:0007754
8 syndactyly 33 HP:0001159
9 external genital hypoplasia 33 HP:0003241

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 30 BBS5

Anatomical Context for Bardet-Biedl Syndrome 5

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

42
Heart, Retina

Publications for Bardet-Biedl Syndrome 5

Articles related to Bardet-Biedl Syndrome 5:

# Title Authors Year
1
Novel splicing variant c. 208+2T>C in  BBS5  segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. ( 30850397 )
2019
2
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina. ( 26867008 )
2016
3
BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors. ( 26150102 )
2015
4
Functional modelling of a novel mutation in BBS5. ( 24559376 )
2014
5
Light-dependent phosphorylation of Bardet-Biedl syndrome 5 in photoreceptor cells modulates its interaction with arrestin1. ( 23817741 )
2013

Variations for Bardet-Biedl Syndrome 5

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

76
# Symbol AA change Variation ID SNP ID
1 BBS5 p.Gly72Ser VAR_066290 rs121908581
2 BBS5 p.Thr183Ala VAR_072380 rs121908582

ClinVar genetic disease variations for Bardet-Biedl Syndrome 5:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS5 NM_152384.2(BBS5): c.522+3A> G single nucleotide variant Pathogenic rs587777828 GRCh38 Chromosome 2, 169493012: 169493012
2 BBS5 NM_152384.2(BBS5): c.522+3A> G single nucleotide variant Pathogenic rs587777828 GRCh37 Chromosome 2, 170349522: 170349522
3 BBS5 BBS5, LEU142TER undetermined variant Pathogenic
4 BBS5 BBS5, 8-BP DEL/7-BP INS, NT263 indel Pathogenic
5 BBS5 NM_152384.2(BBS5): c.177G> A (p.Trp59Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 170343613: 170343613
6 BBS5 NM_152384.2(BBS5): c.177G> A (p.Trp59Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 169487103: 169487103
7 BBS5 NM_152384.2(BBS5): c.214G> A (p.Gly72Ser) single nucleotide variant Pathogenic rs121908581 GRCh37 Chromosome 2, 170344321: 170344321
8 BBS5 NM_152384.2(BBS5): c.214G> A (p.Gly72Ser) single nucleotide variant Pathogenic rs121908581 GRCh38 Chromosome 2, 169487811: 169487811
9 BBS5 NM_152384.2(BBS5): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs121908582 GRCh37 Chromosome 2, 170350275: 170350275
10 BBS5 NM_152384.2(BBS5): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs121908582 GRCh38 Chromosome 2, 169493765: 169493765
11 BBS5 NM_152384.2(BBS5): c.966dup (p.Ala323Cysfs) duplication Likely pathogenic rs1553529427 GRCh37 Chromosome 2, 170361032: 170361032
12 BBS5 NM_152384.2(BBS5): c.966dup (p.Ala323Cysfs) duplication Likely pathogenic rs1553529427 GRCh38 Chromosome 2, 169504522: 169504522
13 BBS5 NM_152384.2(BBS5): c.209-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 2, 169487804: 169487804
14 BBS5 NM_152384.2(BBS5): c.209-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 2, 170344314: 170344314
15 BBS5 NM_152384.2(BBS5): c.258+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 2, 169487857: 169487857
16 BBS5 NM_152384.2(BBS5): c.258+2T> C single nucleotide variant Pathogenic GRCh37 Chromosome 2, 170344367: 170344367

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 ARL3 BBS2 BBS5 RHO
2
Show member pathways
10.95 ARL3 BBS2 BBS5 RHO

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 cilium GO:0005929 9.63 ARL3 BBS2 BBS5 ROPN1L RSPH1 TEKT4
2 myelin sheath GO:0043209 9.58 ACTG1 CKB MDH1
3 motile cilium GO:0031514 9.56 BBS2 ROPN1L RSPH1 TEKT4
4 ciliary basal body GO:0036064 9.54 BBS2 BBS5 ENSG00000251569
5 ciliary membrane GO:0060170 9.5 BBS2 BBS5 RHO
6 photoreceptor inner segment GO:0001917 9.46 RHO SAG
7 sperm flagellum GO:0036126 9.43 RSPH1 TEKT4
8 cell projection GO:0042995 9.23 ARL3 BBS2 BBS5 RHO ROPN1L RSPH1
9 BBSome GO:0034464 9.13 BBS2 BBS5 ENSG00000251569

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 BBS2 BBS5 RHO
2 cell projection organization GO:0030030 9.5 BBS2 BBS5 TEKT4
3 photoreceptor cell maintenance GO:0045494 9.4 BBS2 RHO
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 RHO SAG
5 melanosome transport GO:0032402 9.16 BBS2 BBS5
6 rhodopsin mediated signaling pathway GO:0016056 8.96 RHO SAG
7 cilium assembly GO:0060271 8.92 ARL3 BBS2 BBS5 TEKT4

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 9.73 ACTG1 ARL3 BBS2 BBS5 CKB CXCL6
2 RNA polymerase II repressing transcription factor binding GO:0001103 8.62 BBS2 BBS5

Sources for Bardet-Biedl Syndrome 5

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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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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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