BBS18
MCID: BRD048
MIFTS: 40

Bardet-Biedl Syndrome 18 (BBS18)

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 18

MalaCards integrated aliases for Bardet-Biedl Syndrome 18:

Name: Bardet-Biedl Syndrome 18 57 12 74 29 6 15 72
Bbs18 57 12 74
Bardet-Biedl Syndrome, Type 18 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
one patient has been reported (last curated october 2014)


HPO:

32
bardet-biedl syndrome 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110140
MeSH 44 D020788
ICD10 33 Q87.89
UMLS 72 C3806174

Summaries for Bardet-Biedl Syndrome 18

UniProtKB/Swiss-Prot : 74 Bardet-Biedl syndrome 18: 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 18, also known as bbs18, is related to bardet-biedl syndrome 4 and bardet-biedl syndrome 1. An important gene associated with Bardet-Biedl Syndrome 18 is BBIP1 (BBSome Interacting Protein 1), and among its related pathways/superpathways are Actin Nucleation by ARP-WASP Complex and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include heart and kidney, and related phenotypes are obesity and cataract

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBIP1 gene on chromosome 10q25.

OMIM : 57 BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615995)

Related Diseases for Bardet-Biedl Syndrome 18

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 4 29.5 BBS4 BBS2 BBS1
2 bardet-biedl syndrome 1 28.6 BBS7 BBS4 BBS2 BBS1 BBIP1
3 polydactyly 28.4 TTC8 BBS7 BBS4 BBS2 BBS1
4 bardet-biedl syndrome 27.1 TTC8 PDCD4 EXOC7 BBS7 BBS4 BBS2
5 polydactyly, postaxial, type a1 10.1
6 retinitis pigmentosa 10.1
7 neuroretinitis 10.1
8 hypogonadism 10.1
9 retinitis 10.1
10 hypogonadotropism 10.1
11 ciliopathy 10.1
12 bardet-biedl syndrome 15 9.8 BBS4 BBS2
13 bardet-biedl syndrome 14 9.7 BBS2 BBS1
14 alstrom syndrome 9.6 BBS2 BBS1
15 hydrolethalus syndrome 1 9.6 BBS4 BBS2
16 nonsyndromic retinitis pigmentosa 9.5 TTC8 BBS2 BBS1
17 bardet-biedl syndrome 13 9.5 BBS4 BBS2 BBS1
18 fundus dystrophy 9.5 BBS4 BBS2 BBS1
19 bardet-biedl syndrome 6 9.2 BBS7 BBS4 BBS2 BBS1
20 mckusick-kaufman syndrome 9.2 BBS7 BBS4 BBS2 BBS1
21 bardet-biedl syndrome 3 9.2 BBS7 BBS4 BBS2 BBS1
22 bardet-biedl syndrome 17 9.2 BBS7 BBS4 BBS2 BBS1
23 bardet-biedl syndrome 8 8.6 TTC8 BBS7 BBS4 BBS2 BBS1 BBIP1

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 18:



Diseases related to Bardet-Biedl Syndrome 18

Symptoms & Phenotypes for Bardet-Biedl Syndrome 18

Human phenotypes related to Bardet-Biedl Syndrome 18:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 cataract 32 HP:0000518
3 cognitive impairment 32 HP:0100543
4 renal insufficiency 32 HP:0000083
5 brachydactyly 32 HP:0001156
6 rod-cone dystrophy 32 HP:0000510

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity

Skeletal Hands:
brachydactyly

Genitourinary Kidneys:
renal failure

Neurologic Central Nervous System:
cognitive impairment
learning disabilities

Head And Neck Eyes:
retinal dystrophy
cataracts
retinitis pigmentosa

Clinical features from OMIM:

615995

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 18:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.02 BBIP1 BBS1 BBS4 BBS7 EXOC5 EXOC6
2 nervous system MP:0003631 9.8 BBIP1 BBS1 BBS2 BBS4 BBS7 TTC8
3 renal/urinary system MP:0005367 9.8 BBS1 BBS2 BBS4 BBS7 EXOC5 PDCD4
4 reproductive system MP:0005389 9.63 BBIP1 BBS1 BBS2 BBS4 BBS7 PDCD4
5 taste/olfaction MP:0005394 9.35 BBS1 BBS2 BBS4 BBS7 TTC8
6 vision/eye MP:0005391 9.1 BBIP1 BBS1 BBS2 BBS4 BBS7 TTC8

Drugs & Therapeutics for Bardet-Biedl Syndrome 18

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 18

Genetic Tests for Bardet-Biedl Syndrome 18

Genetic tests related to Bardet-Biedl Syndrome 18:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 18 29 BBIP1

Anatomical Context for Bardet-Biedl Syndrome 18

MalaCards organs/tissues related to Bardet-Biedl Syndrome 18:

41
Heart, Kidney

Publications for Bardet-Biedl Syndrome 18

Articles related to Bardet-Biedl Syndrome 18:

# Title Authors PMID Year
1
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). 38 8 71
24026985 2014
2
Bardet-Biedl Syndrome 38 71
20301537 2003
3
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 71
12567324 2003
4
Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins. 38
25964651 2015

Variations for Bardet-Biedl Syndrome 18

ClinVar genetic disease variations for Bardet-Biedl Syndrome 18:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BBIP1 NM_001195304.1(BBIP1): c.*18T> G single nucleotide variant Pathogenic rs515726134 10:112660224-112660224 10:110900466-110900466
2 BBIP1 NM_001195304.1(BBIP1): c.191C> G (p.Ala64Gly) single nucleotide variant Uncertain significance rs760064445 10:112667441-112667441 10:110907683-110907683

Expression for Bardet-Biedl Syndrome 18

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 18.

Pathways for Bardet-Biedl Syndrome 18

GO Terms for Bardet-Biedl Syndrome 18

Cellular components related to Bardet-Biedl Syndrome 18 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.93 TTC8 BBS7 BBS4 BBS2 BBS1
2 microtubule organizing center GO:0005815 9.88 TTC8 EXOC7 BBS7 BBS4 BBS2 BBS1
3 cell projection GO:0042995 9.86 TTC8 EXOC8 EXOC6 BBS7 BBS4 BBS2
4 cilium GO:0005929 9.85 TTC8 BBS7 BBS4 BBS2 BBS1 BBIP1
5 centrosome GO:0005813 9.78 TTC8 BBS7 BBS4 BBS1
6 ciliary basal body GO:0036064 9.72 TTC8 BBS7 BBS4 BBS2 BBS1
7 photoreceptor outer segment GO:0001750 9.57 BBS7 BBS4
8 photoreceptor connecting cilium GO:0032391 9.55 TTC8 BBS4
9 non-motile cilium GO:0097730 9.52 TTC8 BBS4
10 centriolar satellite GO:0034451 9.51 EXOC7 BBS4
11 Flemming body GO:0090543 9.49 EXOC7 EXOC6
12 exocyst GO:0000145 9.46 EXOC8 EXOC7 EXOC6 EXOC5
13 ciliary membrane GO:0060170 9.35 TTC8 BBS7 BBS4 BBS2 BBS1
14 BBSome GO:0034464 9.1 TTC8 BBS7 BBS4 BBS2 BBS1 BBIP1
15 cytoplasm GO:0005737 10.2 TTC8 PDCD4 EXOC8 EXOC7 EXOC6 EXOC5
16 cytosol GO:0005829 10.17 TTC8 PDCD4 EXOC8 EXOC7 EXOC6 EXOC5
17 plasma membrane GO:0005886 10.16 TTC8 EXOC8 EXOC7 EXOC6 BBS7 BBS4

Biological processes related to Bardet-Biedl Syndrome 18 according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.91 BBS7 BBS4 BBS2 BBS1
2 visual perception GO:0007601 9.78 BBS7 BBS4 BBS2 BBS1
3 cilium assembly GO:0060271 9.73 TTC8 BBS7 BBS4 BBS2 BBS1 BBIP1
4 exocytosis GO:0006887 9.71 EXOC8 EXOC7 EXOC6 EXOC5
5 protein localization GO:0008104 9.7 BBS7 BBS4 BBS2
6 regulation of macroautophagy GO:0016241 9.65 EXOC8 EXOC7
7 heart looping GO:0001947 9.64 BBS7 BBS4
8 negative regulation of GTPase activity GO:0034260 9.64 TTC8 BBS4
9 retina homeostasis GO:0001895 9.63 BBS4 BBS1
10 positive regulation of multicellular organism growth GO:0040018 9.63 BBS4 BBS2
11 cell projection organization GO:0030030 9.63 TTC8 BBS7 BBS4 BBS2 BBS1 BBIP1
12 adult behavior GO:0030534 9.62 BBS4 BBS2
13 Golgi to plasma membrane protein transport GO:0043001 9.62 BBS2 BBS1
14 fat cell differentiation GO:0045444 9.62 TTC8 BBS7 BBS4 BBS2
15 protein localization to cilium GO:0061512 9.61 BBS4 BBS1
16 photoreceptor cell maintenance GO:0045494 9.61 BBS4 BBS2 BBS1
17 Golgi to plasma membrane transport GO:0006893 9.6 EXOC6 EXOC5
18 brain morphogenesis GO:0048854 9.59 BBS4 BBS2
19 protein localization to organelle GO:0033365 9.58 BBS4 BBS2
20 striatum development GO:0021756 9.58 BBS4 BBS2
21 regulation of stress fiber assembly GO:0051492 9.57 TTC8 BBS4
22 establishment of planar polarity GO:0001736 9.56 TTC8 EXOC5
23 response to leptin GO:0044321 9.55 BBS4 BBS2
24 leptin-mediated signaling pathway GO:0033210 9.54 BBS4 BBS2
25 melanosome transport GO:0032402 9.54 BBS7 BBS4 BBS2
26 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.51 BBS4 BBS2
27 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.49 BBS4 BBS2
28 sensory processing GO:0050893 9.46 TTC8 BBS4
29 non-motile cilium assembly GO:1905515 9.43 TTC8 EXOC5 BBS7 BBS4 BBS2 BBS1
30 protein transport GO:0015031 9.32 TTC8 EXOC8 EXOC7 EXOC6 EXOC5 BBS7

Molecular functions related to Bardet-Biedl Syndrome 18 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.9 TTC8 PDCD4 EXOC8 EXOC7 EXOC6 EXOC5
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.02 TTC8 BBS7 BBS4 BBS2 BBS1
3 Ral GTPase binding GO:0017160 8.96 EXOC8 EXOC5

Sources for Bardet-Biedl Syndrome 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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