BBS18
MCID: BRD048
MIFTS: 42

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 58 12 76 30 6 15 74
Bbs18 58 12 76
Bardet-Biedl Syndrome, Type 18 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
bardet-biedl syndrome 18:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 18

UniProtKB/Swiss-Prot : 76 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 and bardet-biedl syndrome 2. 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 kidney, heart and eye, 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 : 58 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 20)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 28.2 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC7
2 bardet-biedl syndrome 2 10.1
3 bardet-biedl syndrome 10 10.1
4 bardet-biedl syndrome 11 10.1
5 bardet-biedl syndrome 12 10.1
6 bardet-biedl syndrome 15 9.9 BBS2 BBS4
7 bardet-biedl syndrome 14 9.8 BBS1 BBS2
8 alstrom syndrome 9.7 BBS1 BBS2
9 hydrolethalus syndrome 1 9.7 BBS2 BBS4
10 bardet-biedl syndrome 4 9.7 BBS1 BBS2 BBS4
11 nonsyndromic retinitis pigmentosa 9.7 BBS1 BBS2 TTC8
12 bardet-biedl syndrome 13 9.7 BBS1 BBS2 BBS4
13 fundus dystrophy 9.7 BBS1 BBS2 BBS4
14 bardet-biedl syndrome 6 9.5 BBS1 BBS2 BBS4 BBS7
15 mckusick-kaufman syndrome 9.5 BBS1 BBS2 BBS4 BBS7
16 bardet-biedl syndrome 3 9.5 BBS1 BBS2 BBS4 BBS7
17 bardet-biedl syndrome 17 9.5 BBS1 BBS2 BBS4 BBS7
18 bardet-biedl syndrome 1 9.4 BBIP1 BBS1 BBS2 BBS4 BBS7
19 polydactyly 9.3 BBS1 BBS2 BBS4 BBS7 TTC8
20 bardet-biedl syndrome 8 9.1 BBIP1 BBS1 BBS2 BBS4 BBS7 TTC8

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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 obesity 33 HP:0001513
2 cataract 33 HP:0000518
3 cognitive impairment 33 HP:0100543
4 renal insufficiency 33 HP:0000083
5 brachydactyly 33 HP:0001156
6 rod-cone dystrophy 33 HP:0000510

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 30 BBIP1

Anatomical Context for Bardet-Biedl Syndrome 18

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

42
Kidney, Heart, Eye

Publications for Bardet-Biedl Syndrome 18

Articles related to Bardet-Biedl Syndrome 18:

# Title Authors Year
1
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). ( 24026985 )
2014

Variations for Bardet-Biedl Syndrome 18

ClinVar genetic disease variations for Bardet-Biedl Syndrome 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BBIP1 NM_001195306.1(BBIP1): c.173T> G (p.Leu58Ter) single nucleotide variant Pathogenic rs515726134 GRCh38 Chromosome 10, 110900466: 110900466
2 BBIP1 NM_001195306.1(BBIP1): c.173T> G (p.Leu58Ter) single nucleotide variant Pathogenic rs515726134 GRCh37 Chromosome 10, 112660224: 112660224
3 BBIP1 NM_001195304.1(BBIP1): c.191C> G (p.Ala64Gly) single nucleotide variant Uncertain significance rs760064445 GRCh38 Chromosome 10, 110907683: 110907683
4 BBIP1 NM_001195304.1(BBIP1): c.191C> G (p.Ala64Gly) single nucleotide variant Uncertain significance rs760064445 GRCh37 Chromosome 10, 112667441: 112667441

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

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

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 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC5
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.02 BBS1 BBS2 BBS4 BBS7 TTC8
3 Ral GTPase binding GO:0017160 8.96 EXOC5 EXOC8

Sources for Bardet-Biedl Syndrome 18

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
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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