BBS4
MCID: BRD016
MIFTS: 44

Bardet-Biedl Syndrome 4 (BBS4)

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 4

MalaCards integrated aliases for Bardet-Biedl Syndrome 4:

Name: Bardet-Biedl Syndrome 4 56 12 52 73 29 6 15 17 71
Bbs4 56 12 73
Bardet-Biedl Syndrome, Type 4 74 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
bardet-biedl syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110126
OMIM 56 615982
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
MedGen 41 C2936864
UMLS 71 C2936864

Summaries for Bardet-Biedl Syndrome 4

UniProtKB/Swiss-Prot : 73 Bardet-Biedl syndrome 4: 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.

MalaCards based summary : Bardet-Biedl Syndrome 4, also known as bbs4, is related to bardet-biedl syndrome 6 and bardet-biedl syndrome 3. An important gene associated with Bardet-Biedl Syndrome 4 is BBS4 (Bardet-Biedl Syndrome 4), and among its related pathways/superpathways is Phototransduction. Affiliated tissues include kidney, heart and testes, and related phenotypes are abnormality of the dentition and intellectual disability

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS4 gene on chromosome 15q24.

OMIM : 56 BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615982)

Wikipedia : 74 Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

Related Diseases for Bardet-Biedl Syndrome 4

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

(show top 50) (show all 80)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 6 32.3 CEP290 BBS4
2 bardet-biedl syndrome 3 32.2 CEP290 BBS4
3 bardet-biedl syndrome 13 31.9 CEP290 BBS4
4 bardet-biedl syndrome 8 31.8 CEP290 BBS4
5 simpson-golabi-behmel syndrome, type 2 31.8 OFD1 CEP290 BBS4
6 orofaciodigital syndrome 31.8 OFD1 CEP290 BBS4
7 senior-loken syndrome 1 31.7 OFD1 CEP290 BBS4
8 polycystic kidney disease 4 with or without polycystic liver disease 31.7 OFD1 CEP290 BBS4
9 physical disorder 31.7 OFD1 CEP290 BBS4
10 bardet-biedl syndrome 14 31.6 CEP290 BBS4
11 meckel syndrome, type 1 31.6 PIFO OFD1 CEP290 BBS4
12 visceral heterotaxy 31.4 PIFO OFD1 CEP290 BBS4
13 joubert syndrome 1 31.4 PIFO OFD1 CEP290 BBS4
14 cystic kidney disease 31.4 PIFO OFD1 CEP290 BBS4
15 nephronophthisis 31.3 PIFO OFD1 CEP290 BBS4
16 primary ciliary dyskinesia 31.0 PIFO OFD1 CEP290 BBS4
17 retinal disease 30.9 GUCA1B GUCA1A CEP290 BBS4
18 fundus dystrophy 30.2 RGS9BP OFD1 GUCA1B GUCA1A CEP290 BBS4
19 bardet-biedl syndrome 30.2 PIFO PCM1 OFD1 CEP290 BBS4
20 leber congenital amaurosis 30.2 RGS9BP OFD1 GUCA1B GUCA1A CEP290 BBS4
21 bardet-biedl syndrome 7 29.5 RGS9BP GUCA1B
22 retinal degeneration 29.3 GUCA1B GUCA1A CEP290 BBS4
23 choroidal dystrophy, central areolar, 1 29.0 GUCA1B GUCA1A
24 retinitis pigmentosa 28.1 RGS9BP PIFO OFD1 GUCA1B GUCA1A CEP290
25 bardet-biedl syndrome 1 11.5
26 body mass index quantitative trait locus 11 11.5
27 bardet-biedl syndrome 10 11.4
28 mckusick-kaufman syndrome 11.4
29 polycystic kidney disease 11.2
30 tetralogy of fallot 11.0
31 acrocallosal syndrome 11.0
32 night blindness, congenital stationary, autosomal dominant 3 11.0
33 ciliary dyskinesia, primary, 9 11.0
34 bardet-biedl syndrome 11 11.0
35 bardet-biedl syndrome 15 11.0
36 bardet-biedl syndrome 16 11.0
37 bardet-biedl syndrome 17 11.0
38 bardet-biedl syndrome 18 11.0
39 joubert syndrome 26 11.0
40 kartagener syndrome 11.0
41 chromosome 15q24 deletion syndrome 11.0
42 ciliopathy 10.4
43 autosomal recessive disease 10.4
44 bardet-biedl syndrome 2 10.3
45 bardet-biedl syndrome 5 10.3
46 joubert syndrome 8 10.3 OFD1 CEP290
47 joubert syndrome 5 10.3 OFD1 CEP290
48 joubert syndrome 2 10.3 OFD1 CEP290
49 yemenite deaf-blind hypopigmentation syndrome 10.2
50 polydactyly 10.2

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 4:



Diseases related to Bardet-Biedl Syndrome 4

Symptoms & Phenotypes for Bardet-Biedl Syndrome 4

Human phenotypes related to Bardet-Biedl Syndrome 4:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 abnormality of the dentition 31 occasional (7.5%) HP:0000164
2 intellectual disability 31 very rare (1%) HP:0001249
3 nyctalopia 31 very rare (1%) HP:0000662
4 cryptorchidism 31 very rare (1%) HP:0000028
5 syndactyly 31 very rare (1%) HP:0001159
6 obesity 31 HP:0001513
7 retinal degeneration 31 HP:0000546
8 brachydactyly 31 HP:0001156
9 rod-cone dystrophy 31 HP:0000510
10 renal cyst 31 HP:0000107
11 hypogonadism 31 HP:0000135
12 polydactyly 31 HP:0010442
13 external genital hypoplasia 31 HP:0003241

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Skeletal Hands:
brachydactyly
syndactyly
polydactyly

Skeletal Feet:
polydactyly

Neurologic Central Nervous System:
mental retardation (in some patients)

Head And Neck Teeth:
dental abnormalities (in some patients)

Head And Neck Eyes:
retinal degeneration
night blindness
retinitis pigmentosa

Genitourinary External Genitalia Male:
cryptorchidism
hypogonadism
hypogenitalism

Genitourinary Kidneys:
renal cysts
renal anomalies

Head And Neck Nose:
impaired olfaction (in some patients)

Clinical features from OMIM:

615982

Drugs & Therapeutics for Bardet-Biedl Syndrome 4

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 4

Genetic Tests for Bardet-Biedl Syndrome 4

Genetic tests related to Bardet-Biedl Syndrome 4:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 4 29 BBS4

Anatomical Context for Bardet-Biedl Syndrome 4

MalaCards organs/tissues related to Bardet-Biedl Syndrome 4:

40
Kidney, Heart, Testes, Brain, Adipocyte

Publications for Bardet-Biedl Syndrome 4

Articles related to Bardet-Biedl Syndrome 4:

(show top 50) (show all 119)
# Title Authors PMID Year
1
Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. 56 61 6
15654695 2005
2
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. 61 6 56
12016587 2002
3
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 61 56 6
11381270 2001
4
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. 6 56
7711739 1995
5
Bardet-Biedl Syndrome 61 6
20301537 2003
6
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6 61
12567324 2003
7
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. 56
8588586 1995
8
Interference of nonsense mutations with eukaryotic messenger RNA stability. 6
388431 1979
9
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. 61
31283077 2019
10
Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies. 61
31723061 2019
11
Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. 61
30902542 2019
12
BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia. 61
30665891 2019
13
15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia. 61
29549028 2018
14
The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export. 61
29339469 2018
15
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. 61
29126234 2018
16
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. 61
28502102 2017
17
BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1. 61
28852127 2017
18
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. 61
28533336 2017
19
Insulin regulates Bbs4 during adipogenesis. 61
28371235 2017
20
The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking. 61
28235840 2017
21
The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling. 61
28291807 2017
22
Ciliary Defects in a Mouse Model of Bardet-Biedl Syndrome are Selectively Pronounced in Brian Regions Involved in Cardiovascular Regulation. 61
30193056 2016
23
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 61
27486776 2016
24
Non-essential role for cilia in coordinating precise alignment of lens fibres. 61
26825015 2016
25
Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. 61
26494903 2016
26
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
27
High-Throughput Differentiation and Screening of a Library of Mutant Stem Cell Clones Defines New Host-Based Genes Involved in Rabies Virus Infection. 61
25752821 2015
28
BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors. 61
26150102 2015
29
Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins. 61
25964651 2015
30
Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents. 61
25374274 2014
31
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. 61
24939912 2014
32
BBS4 directly affects proliferation and differentiation of adipocytes. 61
24500759 2014
33
Ccdc13 is a novel human centriolar satellite protein required for ciliogenesis and genome stability. 61
24816561 2014
34
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. 61
24849935 2014
35
Basal body proteins regulate Notch signaling through endosomal trafficking. 61
24681783 2014
36
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. 61
24691443 2014
37
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 61
23432027 2014
38
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). 61
24026985 2014
39
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. 61
24550735 2014
40
A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome. 61
25533820 2014
41
BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF. 61
24867303 2014
42
Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model. 61
24695551 2014
43
BBS mutations modify phenotypic expression of CEP290-related ciliopathies. 61
23943788 2014
44
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. 61
23716571 2013
45
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites. 61
24089205 2013
46
Leptin resistance is a secondary consequence of the obesity in ciliopathy mutant mice. 61
23599282 2013
47
Cycling of the signaling protein phospholipase D through cilia requires the BBSome only for the export phase. 61
23589493 2013
48
FOP is a centriolar satellite protein involved in ciliogenesis. 61
23554904 2013
49
Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. 61
23142271 2013
50
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice. 61
23554981 2013

Variations for Bardet-Biedl Syndrome 4

ClinVar genetic disease variations for Bardet-Biedl Syndrome 4:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBS4 NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)SNV Pathogenic 9145 rs121434632 15:73023915-73023915 15:72731574-72731574
2 BBS4 NM_033028.5(BBS4):c.77-216deldeletion Pathogenic 9146 rs113994189 15:73001821-73001821 15:72709480-72709480
3 BBS4 NM_033028.5(BBS4):c.157-2A>GSNV Pathogenic 9147 rs113994192 15:73004583-73004583 15:72712242-72712242
4 BBS4 NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)SNV Pathogenic 9148 rs28938468 15:73027508-73027508 15:72735167-72735167
5 BBS4 NM_033028.5(BBS4):c.406-2A>GSNV Pathogenic 217435 rs113994191 15:73015133-73015133 15:72722792-72722792
6 BBS4 NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)SNV Pathogenic 397593 rs775710800 15:73023914-73023914 15:72731573-72731573
7 BBS4 NM_033028.5(BBS4):c.712-1G>ASNV Conflicting interpretations of pathogenicity 236484 rs377031435 15:73023645-73023645 15:72731304-72731304
8 BBS4 NM_033028.5(BBS4):c.1414A>G (p.Met472Val)SNV Conflicting interpretations of pathogenicity 143161 rs2277596 15:73029268-73029268 15:72736927-72736927
9 BBS4 NM_033028.5(BBS4):c.587+1G>ASNV Uncertain significance 317060 rs886051466 15:73016997-73016997 15:72724656-72724656
10 BBS4 NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)SNV Uncertain significance 631741 rs772548770 15:73027520-73027520 15:72735179-72735179
11 BBS4 NM_033028.5(BBS4):c.75dup (p.Ala26fs)duplication Uncertain significance 634524 rs1567398832 15:72987568-72987568 15:72695221-72695222

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 4:

73
# Symbol AA change Variation ID SNP ID
1 BBS4 p.Arg295Pro VAR_013170 rs121434632
2 BBS4 p.Asn165His VAR_017049
3 BBS4 p.Leu327Pro VAR_017050
4 BBS4 p.Ala364Glu VAR_017051 rs28938468
5 BBS4 p.Ser457Ile VAR_017052
6 BBS4 p.Met472Val VAR_017053 rs2277596
7 BBS4 p.Leu351Arg VAR_038895
8 BBS4 p.Asp368Gly VAR_038896 rs772548770
9 BBS4 p.Pro503Leu VAR_038897 rs756419611

Expression for Bardet-Biedl Syndrome 4

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 4.

Pathways for Bardet-Biedl Syndrome 4

Pathways related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.99 RGS9BP GUCA1B GUCA1A

GO Terms for Bardet-Biedl Syndrome 4

Cellular components related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.8 PCM1 OFD1 FEZ1 CEP290 BBS4
2 microtubule organizing center GO:0005815 9.77 PCM1 OFD1 FEZ1 CEP290 BBS4
3 cilium GO:0005929 9.76 TAS2R46 OFD1 CEP290 BBS4
4 centriole GO:0005814 9.62 PCM1 OFD1 CEP290 BBS4
5 cell projection GO:0042995 9.56 TAS2R46 PCM1 OFD1 GUCA1B GUCA1A FEZ1
6 non-motile cilium GO:0097730 9.49 PCM1 BBS4
7 photoreceptor disc membrane GO:0097381 9.48 GUCA1B GUCA1A
8 centriolar satellite GO:0034451 9.46 PCM1 OFD1 CEP290 BBS4
9 pericentriolar material GO:0000242 9.43 PCM1 BBS4
10 ciliary transition zone GO:0035869 9.43 PCM1 CEP290 BBS4
11 ciliary basal body GO:0036064 9.02 PIFO PCM1 OFD1 CEP290 BBS4

Biological processes related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.8 TAS2R46 RGS9BP GUCA1B GUCA1A BBS4
2 G2/M transition of mitotic cell cycle GO:0000086 9.67 PCM1 OFD1 CEP290
3 ciliary basal body-plasma membrane docking GO:0097711 9.61 PCM1 OFD1 CEP290
4 regulation of rhodopsin mediated signaling pathway GO:0022400 9.52 GUCA1B GUCA1A
5 positive regulation of intracellular protein transport GO:0090316 9.51 PCM1 CEP290
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.5 PCM1 OFD1 CEP290
7 protein localization to centrosome GO:0071539 9.48 PCM1 BBS4
8 protein localization to organelle GO:0033365 9.46 PCM1 BBS4
9 visual perception GO:0007601 9.46 RGS9BP GUCA1B GUCA1A BBS4
10 positive regulation of guanylate cyclase activity GO:0031284 9.37 GUCA1B GUCA1A
11 microtubule anchoring at centrosome GO:0034454 9.26 PCM1 BBS4
12 cilium assembly GO:0060271 9.26 PCM1 OFD1 CEP290 BBS4
13 cell projection organization GO:0030030 9.02 PIFO PCM1 OFD1 CEP290 BBS4

Molecular functions related to Bardet-Biedl Syndrome 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alpha-tubulin binding GO:0043014 9.26 OFD1 BBS4
2 calcium sensitive guanylate cyclase activator activity GO:0008048 9.16 GUCA1B GUCA1A
3 guanylate cyclase regulator activity GO:0030249 8.96 GUCA1B GUCA1A
4 gamma-tubulin binding GO:0043015 8.8 PIFO OFD1 FEZ1

Sources for Bardet-Biedl Syndrome 4

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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