BBS5
MCID: BRD017
MIFTS: 40

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 75 29 6 15 73
Bbs5 57 12 75
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:

OMIM 57 615983
Disease Ontology 12 DOID:0110127
ICD10 33 Q87.89
MeSH 44 D020788
UMLS 73 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 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 Visual Cycle in Retinal Rods. Affiliated tissues include heart, eye and retina, and related phenotypes are obesity and cognitive impairment

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

UniProtKB/Swiss-Prot : 75 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 21)
# Related Disease Score Top Affiliating Genes
1 nephronophthisis 15 31.9 BBS5 ENSG00000251569
2 cone-rod dystrophy 12 31.9 BBS5 ENSG00000251569
3 bardet-biedl syndrome 8 31.8 BBS2 BBS5
4 bardet-biedl syndrome 3 31.7 BBS2 BBS5
5 fundus dystrophy 30.9 BBS2 BBS5 ENSG00000251569 RHO
6 bardet-biedl syndrome 30.4 BBS2 BBS5 ENSG00000251569
7 bardet-biedl syndrome 2 10.4
8 bardet-biedl syndrome 10 10.4
9 bardet-biedl syndrome 11 10.4
10 bardet-biedl syndrome 12 10.4
11 bardet-biedl syndrome 4 10.0
12 melanoma-associated retinopathy 9.9 RHO SAG
13 pineocytoma 9.9 RHO SAG
14 cancer-associated retinopathy 9.9 RHO SAG
15 autoimmune disease of eyes, ear, nose and throat 9.9 RHO SAG
16 oguchi disease 9.9 RHO SAG
17 pineal parenchymal tumor of intermediate differentiation 9.9 RHO SAG
18 fundus albipunctatus 9.8 RHO SAG
19 bardet-biedl syndrome 17 9.8 BBS2 RHO
20 night blindness 9.8 RHO SAG
21 retinal disease 9.7 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

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

Human phenotypes related to Bardet-Biedl Syndrome 5:

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

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 BBS2 BBS5 CXCL6 PITX2 RHO SAG
2 vision/eye MP:0005391 9.02 BBS2 BBS5 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, Eye, Retina, Pineal

Publications for Bardet-Biedl Syndrome 5

Articles related to Bardet-Biedl Syndrome 5:

# Title Authors Year
1
A Splice Variant of Bardet-Biedl Syndrome 5 (BBS5) Protein that Is Selectively Expressed in Retina. ( 26867008 )
2016
2
BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors. ( 26150102 )
2015
3
Functional modelling of a novel mutation in BBS5. ( 24559376 )
2014
4
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:

75
# 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 15)
# 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: c.177G> A single nucleotide variant Pathogenic
6 BBS5 NM_152384.2(BBS5): c.214G> A (p.Gly72Ser) single nucleotide variant Pathogenic rs121908581 GRCh37 Chromosome 2, 170344321: 170344321
7 BBS5 NM_152384.2(BBS5): c.214G> A (p.Gly72Ser) single nucleotide variant Pathogenic rs121908581 GRCh38 Chromosome 2, 169487811: 169487811
8 BBS5 NM_152384.2(BBS5): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs121908582 GRCh37 Chromosome 2, 170350275: 170350275
9 BBS5 NM_152384.2(BBS5): c.547A> G (p.Thr183Ala) single nucleotide variant Pathogenic rs121908582 GRCh38 Chromosome 2, 169493765: 169493765
10 BBS5 NM_152384.2(BBS5): c.966dup (p.Ala323Cysfs) duplication Likely pathogenic GRCh38 Chromosome 2, 169504522: 169504522
11 BBS5 NM_152384.2(BBS5): c.966dup (p.Ala323Cysfs) duplication Likely pathogenic GRCh37 Chromosome 2, 170361032: 170361032
12 BBS5 NM_152384.2(BBS5): c.209-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 2, 169487804: 169487804
13 BBS5 NM_152384.2(BBS5): c.209-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 2, 170344314: 170344314
14 BBS5 NM_152384.2(BBS5): c.258+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 2, 169487857: 169487857
15 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

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 BBS2 BBS5 RHO SAG
2 photoreceptor outer segment GO:0001750 9.37 RHO SAG
3 ciliary basal body GO:0036064 9.33 BBS2 BBS5 ENSG00000251569
4 photoreceptor inner segment GO:0001917 9.32 RHO SAG
5 ciliary membrane GO:0060170 9.13 BBS2 BBS5 RHO
6 BBSome GO:0034464 8.8 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 response to stimulus GO:0050896 9.54 BBS2 BBS5 RHO
2 visual perception GO:0007601 9.33 BBS2 BBS5 RHO
3 photoreceptor cell maintenance GO:0045494 9.32 BBS2 RHO
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.26 RHO SAG
5 melanosome transport GO:0032402 8.96 BBS2 BBS5
6 rhodopsin mediated signaling pathway GO:0016056 8.62 RHO SAG

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

# Name GO ID Score Top Affiliating Genes
1 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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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45 MESH via Orphanet
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49 NCI
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54 NINDS
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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