BBS4
MCID: BRD016
MIFTS: 47

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 58 12 54 76 30 6 15 17 74
Bbs4 58 12 76
Bardet-Biedl Syndrome, Type 4 77 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
bardet-biedl syndrome 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 4

UniProtKB/Swiss-Prot : 76 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 1 and polydactyly. An important gene associated with Bardet-Biedl Syndrome 4 is BBS4 (Bardet-Biedl Syndrome 4), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Affiliated tissues include kidney, heart and testes, and related phenotypes are intellectual disability and abnormality of the dentition

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

OMIM : 58 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 : 77 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 all 37)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 1 32.1 BBS1 BBS2 BBS4
2 polydactyly 31.8 BBS1 BBS2 BBS4
3 bardet-biedl syndrome 3 31.7 BBS1 BBS2 BBS4
4 bardet-biedl syndrome 15 31.7 BBS2 BBS4
5 hydrolethalus syndrome 1 31.6 BBS2 BBS4 OFD1
6 bardet-biedl syndrome 6 31.6 BBS1 BBS2 BBS4
7 bardet-biedl syndrome 14 31.6 BBS1 BBS2
8 bardet-biedl syndrome 8 31.6 BBS1 BBS2 BBS4
9 mckusick-kaufman syndrome 31.6 BBS1 BBS2 BBS4
10 bardet-biedl syndrome 18 31.6 BBS1 BBS2 BBS4
11 bardet-biedl syndrome 17 31.6 BBS1 BBS2 BBS4
12 bardet-biedl syndrome 13 31.6 BBS1 BBS2 BBS4
13 meckel syndrome, type 1 31.5 BBS1 BBS4 OFD1
14 fundus dystrophy 31.5 BBS1 BBS2 BBS4
15 retinitis pigmentosa 31.0 BBS1 BBS2 BBS4 DCTN1 OFD1
16 bardet-biedl syndrome 30.0 BBS1 BBS2 BBS4 DCTN1 PCM1
17 body mass index quantitative trait locus 11 11.4
18 tetralogy of fallot 11.1
19 deafness, autosomal recessive 48 11.1
20 chromosome 15q24 deletion syndrome 11.1
21 bardet-biedl syndrome 2 10.4
22 bardet-biedl syndrome 10 10.4
23 bardet-biedl syndrome 11 10.4
24 bardet-biedl syndrome 12 10.4
25 nonsyndromic retinitis pigmentosa 10.1 BBS1 BBS2
26 lissencephaly 1 10.0 DISC1 PAFAH1B1
27 body mass index quantitative trait locus 8 10.0
28 body mass index quantitative trait locus 10 10.0
29 body mass index quantitative trait locus 7 10.0
30 body mass index quantitative trait locus 14 10.0
31 body mass index quantitative trait locus 18 10.0
32 bardet-biedl syndrome 5 10.0
33 bardet-biedl syndrome 7 10.0
34 bardet-biedl syndrome 9 10.0
35 body mass index quantitative trait locus 19 10.0
36 schizophrenia 1 9.9 DISC1 PAFAH1B1
37 alstrom syndrome 9.8 BBS1 BBS2

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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 abnormality of the dentition 33 occasional (7.5%) HP:0000164
3 obesity 33 HP:0001513
4 cryptorchidism 33 HP:0000028
5 nyctalopia 33 HP:0000662
6 hypogonadism 33 HP:0000135
7 brachydactyly 33 HP:0001156
8 rod-cone dystrophy 33 HP:0000510
9 renal cyst 33 HP:0000107
10 syndactyly 33 HP:0001159
11 retinal degeneration 33 HP:0000546
12 external genital hypoplasia 33 HP:0003241
13 polydactyly 33 HP:0010442

Symptoms via clinical synopsis from OMIM:

58
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)

Genitourinary External Genitalia Male:
cryptorchidism
hypogonadism
hypogenitalism

Head And Neck Eyes:
retinal degeneration
night blindness
retinitis pigmentosa

Genitourinary Kidneys:
renal cysts
renal anomalies

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

Clinical features from OMIM:

615982

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 BBS1 BBS2 DCTN1 DISC1 HAP1 PAFAH1B1

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 4:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.13 ATG5 BBS1 BBS2 BBS4 DCTN1 DISC1
2 cellular MP:0005384 10.1 ATG3 ATG5 BBS1 BBS2 BBS4 DCTN1
3 growth/size/body region MP:0005378 10.02 ATG3 ATG5 BBS1 BBS2 BBS4 DISC1
4 mortality/aging MP:0010768 9.91 ATG3 ATG5 BBS1 BBS4 DCTN1 HAP1
5 endocrine/exocrine gland MP:0005379 9.85 ATG3 ATG5 BBS2 BBS4 OGT PAFAH1B1
6 nervous system MP:0003631 9.85 ATG5 BBS1 BBS2 BBS4 DCTN1 DISC1
7 renal/urinary system MP:0005367 9.35 ATG5 BBS1 BBS2 BBS4 OFD1
8 taste/olfaction MP:0005394 8.8 BBS1 BBS2 BBS4

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 30 BBS4

Anatomical Context for Bardet-Biedl Syndrome 4

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

42
Kidney, Heart, Testes, Adipocyte, Eye

Publications for Bardet-Biedl Syndrome 4

Articles related to Bardet-Biedl Syndrome 4:

(show all 26)
# Title Authors Year
1
Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. ( 30902542 )
2019
2
BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia. ( 30665891 )
2019
3
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336 )
2017
4
Insulin regulates Bbs4 during adipogenesis. ( 28371235 )
2017
5
BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1. ( 28852127 )
2017
6
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. ( 26518167 )
2015
7
BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors. ( 26150102 )
2015
8
A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome. ( 25533820 )
2014
9
BBS4 directly affects proliferation and differentiation of adipocytes. ( 24500759 )
2014
10
The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. ( 24550735 )
2014
11
BBS4 is necessary for ciliary localization of TrkB receptor and activation by BDNF. ( 24867303 )
2014
12
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice. ( 23554981 )
2013
13
Exome capture sequencing identifies a novel mutation in BBS4. ( 22219648 )
2011
14
Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. ( 18762586 )
2008
15
Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage. ( 17591906 )
2007
16
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. ( 16794820 )
2006
17
Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene. ( 15654695 )
2005
18
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly. ( 15173597 )
2004
19
Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4). ( 15497446 )
2004
20
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. ( 15107855 )
2004
21
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. ( 12016587 )
2002
22
The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. ( 12365916 )
2002
23
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. ( 11381270 )
2001
24
The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23. ( 10409426 )
1999
25
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. ( 7711739 )
1995
26
Interference of nonsense mutations with eukaryotic messenger RNA stability. ( 388431 )
1979

Variations for Bardet-Biedl Syndrome 4

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

76
# 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

ClinVar genetic disease variations for Bardet-Biedl Syndrome 4:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS4 NM_033028.4(BBS4): c.884G> C (p.Arg295Pro) single nucleotide variant Pathogenic rs121434632 GRCh37 Chromosome 15, 73023915: 73023915
2 BBS4 NM_033028.4(BBS4): c.884G> C (p.Arg295Pro) single nucleotide variant Pathogenic rs121434632 GRCh38 Chromosome 15, 72731574: 72731574
3 BBS4 NM_033028.4(BBS4): c.77-220delA deletion Pathogenic rs113994189 GRCh37 Chromosome 15, 73001821: 73001821
4 BBS4 NM_033028.4(BBS4): c.77-220delA deletion Pathogenic rs113994189 GRCh38 Chromosome 15, 72709480: 72709480
5 BBS4 NM_033028.4(BBS4): c.157-2A> G single nucleotide variant Pathogenic rs113994192 GRCh37 Chromosome 15, 73004583: 73004583
6 BBS4 NM_033028.4(BBS4): c.157-2A> G single nucleotide variant Pathogenic rs113994192 GRCh38 Chromosome 15, 72712242: 72712242
7 BBS4 NM_033028.4(BBS4): c.1091C> A (p.Ala364Glu) single nucleotide variant Pathogenic rs28938468 GRCh37 Chromosome 15, 73027508: 73027508
8 BBS4 NM_033028.4(BBS4): c.1091C> A (p.Ala364Glu) single nucleotide variant Pathogenic rs28938468 GRCh38 Chromosome 15, 72735167: 72735167
9 BBS4 NM_033028.4(BBS4): c.1414A> G (p.Met472Val) single nucleotide variant Conflicting interpretations of pathogenicity rs2277596 GRCh38 Chromosome 15, 72736927: 72736927
10 BBS4 NM_033028.4(BBS4): c.1414A> G (p.Met472Val) single nucleotide variant Conflicting interpretations of pathogenicity rs2277596 GRCh37 Chromosome 15, 73029268: 73029268
11 BBS4 NM_033028.4(BBS4): c.406-2A> G single nucleotide variant Pathogenic rs113994191 GRCh38 Chromosome 15, 72722792: 72722792
12 BBS4 NM_033028.4(BBS4): c.406-2A> G single nucleotide variant Pathogenic rs113994191 GRCh37 Chromosome 15, 73015133: 73015133
13 BBS4 NM_033028.4(BBS4): c.883C> T (p.Arg295Ter) single nucleotide variant Pathogenic rs775710800 GRCh38 Chromosome 15, 72731573: 72731573
14 BBS4 NM_033028.4(BBS4): c.883C> T (p.Arg295Ter) single nucleotide variant Pathogenic rs775710800 GRCh37 Chromosome 15, 73023914: 73023914

Expression for Bardet-Biedl Syndrome 4

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

Pathways for Bardet-Biedl Syndrome 4

GO Terms for Bardet-Biedl Syndrome 4

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.93 BBS1 BBS2 BBS4 HAP1 OFD1 PCM1
2 cilium GO:0005929 9.81 BBS1 BBS2 BBS4 OFD1
3 cytoskeleton GO:0005856 9.81 BBS1 BBS2 BBS4 DCTN1 DISC1 HAP1
4 centriole GO:0005814 9.72 BBS4 DCTN1 HAP1 OFD1 PCM1
5 motile cilium GO:0031514 9.7 BBS2 BBS4 PAFAH1B1
6 ciliary membrane GO:0060170 9.65 BBS1 BBS2 BBS4
7 ciliary basal body GO:0036064 9.65 BBS1 BBS2 BBS4 OFD1 PCM1
8 centriolar satellite GO:0034451 9.61 BBS4 OFD1 PCM1
9 intermediate filament cytoskeleton GO:0045111 9.58 DCTN1 DISC1
10 stereocilium GO:0032420 9.58 BBS2 PAFAH1B1
11 microtubule associated complex GO:0005875 9.57 DCTN1 PAFAH1B1
12 ciliary transition zone GO:0035869 9.56 BBS4 PCM1
13 centrosome GO:0005813 9.56 BBS1 BBS4 DCTN1 DISC1 HAP1 OFD1
14 non-motile cilium GO:0097730 9.55 BBS4 PCM1
15 pericentriolar material GO:0000242 9.54 BBS4 PCM1
16 BBSome GO:0034464 9.54 BBS1 BBS2 BBS4
17 microtubule organizing center GO:0005815 9.23 BBS1 BBS2 BBS4 DCTN1 DISC1 OFD1
18 cytosol GO:0005829 10.19 ATG3 ATG5 BBS1 BBS2 BBS4 DCTN1
19 cytoplasm GO:0005737 10.18 ATG3 ATG5 BBS1 BBS2 BBS4 DCTN1

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.97 ATG3 BBS1 BBS2 BBS4 HAP1
2 visual perception GO:0007601 9.84 BBS1 BBS2 BBS4
3 autophagy GO:0006914 9.82 ATG3 ATG5 HAP1
4 microtubule cytoskeleton organization GO:0000226 9.78 BBS4 DISC1 PAFAH1B1
5 G2/M transition of mitotic cell cycle GO:0000086 9.78 DCTN1 OFD1 PAFAH1B1 PCM1
6 neuron migration GO:0001764 9.76 BBS4 DISC1 PAFAH1B1 PCM1
7 protein localization GO:0008104 9.74 BBS2 BBS4 HAP1
8 cerebral cortex development GO:0021987 9.73 BBS2 BBS4 PAFAH1B1
9 hippocampus development GO:0021766 9.72 BBS2 BBS4 PAFAH1B1
10 ciliary basal body-plasma membrane docking GO:0097711 9.71 DCTN1 OFD1 PAFAH1B1 PCM1
11 negative regulation of protein ubiquitination GO:0031397 9.68 ATG5 OGT
12 regulation of cilium assembly GO:1902017 9.68 ATG3 ATG5
13 centrosome cycle GO:0007098 9.68 BBS4 PCM1
14 retina homeostasis GO:0001895 9.67 BBS1 BBS4
15 autophagy of mitochondrion GO:0000422 9.67 ATG3 ATG5
16 positive regulation of multicellular organism growth GO:0040018 9.67 BBS2 BBS4
17 photoreceptor cell maintenance GO:0045494 9.67 BBS1 BBS2 BBS4
18 adult behavior GO:0030534 9.66 BBS2 BBS4
19 Golgi to plasma membrane protein transport GO:0043001 9.65 BBS1 BBS2
20 protein localization to cilium GO:0061512 9.65 BBS1 BBS4
21 establishment of mitotic spindle orientation GO:0000132 9.65 DCTN1 PAFAH1B1
22 cilium assembly GO:0060271 9.65 BBS1 BBS2 BBS4 OFD1 PCM1
23 melanosome transport GO:0032402 9.64 BBS2 BBS4
24 vasodilation GO:0042311 9.63 ATG5 BBS2
25 protein localization to centrosome GO:0071539 9.63 BBS4 PCM1
26 striatum development GO:0021756 9.62 BBS2 BBS4
27 negative regulation of phagocytosis GO:0050765 9.62 ATG3 ATG5
28 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.62 DCTN1 OFD1 PAFAH1B1 PCM1
29 vesicle transport along microtubule GO:0047496 9.61 HAP1 PAFAH1B1
30 brain morphogenesis GO:0048854 9.61 BBS2 BBS4 PAFAH1B1
31 response to leptin GO:0044321 9.6 BBS2 BBS4
32 leptin-mediated signaling pathway GO:0033210 9.59 BBS2 BBS4
33 retrograde axonal transport GO:0008090 9.58 HAP1 PAFAH1B1
34 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.54 BBS2 BBS4
35 protein localization to organelle GO:0033365 9.54 BBS2 BBS4 PCM1
36 nuclear envelope disassembly GO:0051081 9.52 DCTN1 PAFAH1B1
37 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.51 BBS2 BBS4
38 cell projection organization GO:0030030 9.43 BBS1 BBS2 BBS4 HAP1 OFD1 PCM1
39 microtubule anchoring at centrosome GO:0034454 9.33 BBS4 DCTN1 PCM1
40 non-motile cilium assembly GO:1905515 9.1 BBS1 BBS2 BBS4 DCTN1 DISC1 PCM1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 ATG3 ATG5 BBS1 BBS2 BBS4 DCTN1
2 alpha-tubulin binding GO:0043014 9.37 BBS4 OFD1
3 dynein complex binding GO:0070840 9.32 DCTN1 PAFAH1B1
4 dynactin binding GO:0034452 9.26 BBS4 PAFAH1B1
5 Atg8 ligase activity GO:0019776 8.96 ATG3 ATG5
6 RNA polymerase II repressing transcription factor binding GO:0001103 8.8 BBS1 BBS2 BBS4

Sources for Bardet-Biedl Syndrome 4

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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31 HGMD
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35 ICD10 via Orphanet
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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