MCID: BRD048
MIFTS: 42

Bardet-Biedl Syndrome 18

Categories: Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Bardet-Biedl Syndrome 18

MalaCards integrated aliases for Bardet-Biedl Syndrome 18:

Name: Bardet-Biedl Syndrome 18 57 12 75 29 6 15 73
Bbs18 57 12 75
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:



Summaries for Bardet-Biedl Syndrome 18

UniProtKB/Swiss-Prot : 75 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 cohen syndrome. 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 and heart, and related phenotypes are renal insufficiency and rod-cone dystrophy

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 21)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 25.8 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC7
2 cohen syndrome 10.0 INPP5E VPS13B
3 bardet-biedl syndrome 2 9.9
4 bardet-biedl syndrome 10 9.9
5 bardet-biedl syndrome 11 9.9
6 bardet-biedl syndrome 12 9.9
7 nonsyndromic retinitis pigmentosa 9.5 BBS1 BBS2 TTC8
8 bardet-biedl syndrome 6 9.5 BBS1 BBS2 BBS4
9 bardet-biedl syndrome 15 9.5 BBS2 BBS4
10 bardet-biedl syndrome 14 9.5 BBS1 BBS2
11 bardet-biedl syndrome 4 9.4 BBS1 BBS2 BBS4
12 bardet-biedl syndrome 13 9.4 BBS1 BBS2 BBS4
13 alstrom syndrome 9.2 BBS1 BBS2 VPS13B
14 polydactyly 9.1 BBS1 BBS2 BBS4 TTC8
15 mckusick-kaufman syndrome 9.1 BBS1 BBS2 BBS4 BBS7
16 bardet-biedl syndrome 3 9.1 BBS1 BBS2 BBS4 BBS7
17 bardet-biedl syndrome 17 9.1 BBS1 BBS2 BBS4 BBS7
18 tetralogy of fallot 8.8 BBS1 BBS2 BBS4 BBS7
19 fundus dystrophy 8.6 BBS1 BBS2 BBS4 INPP5E VPS13B
20 bardet-biedl syndrome 8 8.5 BBIP1 BBS1 BBS2 BBS4 BBS7 TTC8
21 bardet-biedl syndrome 1 8.5 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

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity

Genitourinary Kidneys:
renal failure

Neurologic Central Nervous System:
cognitive impairment
learning disabilities

Head And Neck Eyes:
retinitis pigmentosa
retinal dystrophy
cataracts

Skeletal Hands:
brachydactyly


Clinical features from OMIM:

615995

Human phenotypes related to Bardet-Biedl Syndrome 18:

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

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 BBS7 BBIP1 EXOC5 EXOC6 EXOC8 BBS1
2 growth/size/body region MP:0005378 9.97 BBS7 BBIP1 EXOC8 BBS1 INPP5E BBS2
3 nervous system MP:0003631 9.86 BBS7 BBIP1 EXOC8 BBS1 INPP5E BBS2
4 craniofacial MP:0005382 9.8 BBS7 BBS1 INPP5E TTC8 BBS4
5 renal/urinary system MP:0005367 9.76 BBS7 EXOC5 BBS1 INPP5E BBS2 PDCD4
6 taste/olfaction MP:0005394 9.35 BBS7 BBS1 BBS2 TTC8 BBS4
7 vision/eye MP:0005391 9.17 BBS7 BBIP1 BBS1 INPP5E BBS2 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
Kidney, Heart

Publications for Bardet-Biedl Syndrome 18

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

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 16)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.97 BBS1 BBS2 BBS4 BBS7 INPP5E TTC8
2 microtubule organizing center GO:0005815 9.88 BBS1 BBS2 BBS4 BBS7 EXOC7 TTC8
3 centrosome GO:0005813 9.81 BBS1 BBS4 BBS7 TTC8
4 cilium GO:0005929 9.8 BBIP1 BBS1 BBS2 BBS4 BBS7 INPP5E
5 ciliary basal body GO:0036064 9.77 BBS1 BBS2 BBS4 BBS7 TTC8
6 axoneme GO:0005930 9.65 BBS1 BBS7 INPP5E
7 exocyst GO:0000145 9.62 EXOC5 EXOC6 EXOC7 EXOC8
8 cell projection GO:0042995 9.61 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC6
9 photoreceptor connecting cilium GO:0032391 9.56 BBS4 TTC8
10 ciliary membrane GO:0060170 9.55 BBS1 BBS2 BBS4 BBS7 TTC8
11 Flemming body GO:0090543 9.54 EXOC6 EXOC7
12 centriolar satellite GO:0034451 9.52 BBS4 EXOC7
13 BBSome GO:0034464 9.1 BBIP1 BBS1 BBS2 BBS4 BBS7 TTC8
14 cytoplasm GO:0005737 10.23 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC5
15 cytosol GO:0005829 10.21 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC5
16 plasma membrane GO:0005886 10.2 BBS1 BBS2 BBS4 BBS7 EXOC6 EXOC7

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.92 BBS1 BBS2 BBS4 BBS7
2 visual perception GO:0007601 9.8 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 negative regulation of GTPase activity GO:0034260 9.64 BBS4 TTC8
7 retina homeostasis GO:0001895 9.63 BBS1 BBS4
8 intracellular transport GO:0046907 9.63 BBS4 BBS7
9 cell projection organization GO:0030030 9.63 BBIP1 BBS1 BBS2 BBS4 BBS7 TTC8
10 positive regulation of multicellular organism growth GO:0040018 9.62 BBS2 BBS4
11 fat cell differentiation GO:0045444 9.62 BBS2 BBS4 BBS7 TTC8
12 Golgi to plasma membrane protein transport GO:0043001 9.61 BBS1 BBS2
13 adult behavior GO:0030534 9.61 BBS2 BBS4
14 photoreceptor cell maintenance GO:0045494 9.61 BBS1 BBS2 BBS4
15 protein localization to cilium GO:0061512 9.6 BBS1 BBS4
16 brain morphogenesis GO:0048854 9.59 BBS2 BBS4
17 Golgi to plasma membrane transport GO:0006893 9.58 EXOC5 EXOC6
18 regulation of stress fiber assembly GO:0051492 9.58 BBS4 TTC8
19 protein localization to organelle GO:0033365 9.57 BBS2 BBS4
20 striatum development GO:0021756 9.56 BBS2 BBS4
21 response to leptin GO:0044321 9.55 BBS2 BBS4
22 leptin-mediated signaling pathway GO:0033210 9.54 BBS2 BBS4
23 melanosome transport GO:0032402 9.54 BBS2 BBS4 BBS7
24 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.51 BBS2 BBS4
25 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.48 BBS2 BBS4
26 sensory processing GO:0050893 9.46 BBS4 TTC8
27 protein transport GO:0015031 9.36 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC5
28 non-motile cilium assembly GO:1905515 9.35 BBS1 BBS2 BBS4 BBS7 TTC8

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 9.93 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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