MCID: BRD048
MIFTS: 41

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 54 12 71 29 14 69
Bbs18 12 71

Characteristics:

OMIM:

54
Miscellaneous:
one patient has been reported (last curated october 2014)

Inheritance:
autosomal recessive


HPO:

32
bardet-biedl syndrome 18:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 18

UniProtKB/Swiss-Prot : 71 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 bbip1-related bardet-biedl syndrome and cone-rod dystrophy 16, and has symptoms including brachydactyly, cognitive impairment and renal insufficiency. 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 mortality/aging and growth/size/body region

OMIM : 54
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)

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

Related Diseases for Bardet-Biedl Syndrome 18

Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 16 Bardet-Biedl Syndrome 15
Bardet-Biedl Syndrome 5 Bardet-Biedl Syndrome 17
Bardet-Biedl Syndrome 3 Bardet-Biedl Syndrome 7
Bardet-Biedl Syndrome 12 Bardet-Biedl Syndrome 9
Bardet-Biedl Syndrome 21 Bardet-Biedl Syndrome 20
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 14 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 6
Bardet-Biedl Syndrome 19 Arl6-Related Bardet-Biedl Syndrome
Bbip1-Related Bardet-Biedl Syndrome Bbs1-Related Bardet-Biedl Syndrome
Bbs10-Related Bardet-Biedl Syndrome Bbs12-Related Bardet-Biedl Syndrome
Bbs2-Related Bardet-Biedl Syndrome Bbs4-Related Bardet-Biedl Syndrome
Bbs5-Related Bardet-Biedl Syndrome Bbs7-Related Bardet-Biedl Syndrome
Bbs9-Related Bardet-Biedl Syndrome Cep290-Related Bardet-Biedl Syndrome
Ift27-Related Bardet-Biedl Syndrome Mkks-Related Bardet-Biedl Syndrome
Mks1-Related Bardet-Biedl Syndrome Sdccag8-Related Bardet-Biedl Syndrome
Trim32-Related Bardet-Biedl Syndrome Ttc8-Related Bardet-Biedl Syndrome
Wdpcp-Related Bardet-Biedl Syndrome

Diseases related to Bardet-Biedl Syndrome 18 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
id Related Disease Score Top Affiliating Genes
1 bbip1-related bardet-biedl syndrome 11.2
2 cone-rod dystrophy 16 10.1 INPP5E VPS13B
3 mental retardation, autosomal recessive 55 9.9 BBS2 BBS4
4 corneal dystrophy, congenital stromal 9.8 BBS1 BBS2
5 acrodermatitis chronica atrophicans 9.7 BBS1 BBS7 INPP5E
6 otof-related deafness 9.7 BBS1 BBS2 TTC8
7 macrocephaly, dysmorphic facies, and psychomotor retardation 9.6 BBS1 BBS2 BBS4
8 bardet-biedl syndrome 15 9.6 BBS2 BBS4
9 joubert syndrome 28 9.6 BBS1 BBS2 BBS4
10 horner's syndrome 9.5 BBS1 BBS2 BBS4
11 alstrom syndrome 9.5 BBS1 BBS2 VPS13B
12 hypothyroidism, congenital nongoitrous, 5 9.4 BBS2 BBS4 BBS7
13 retinitis pigmentosa 55 9.4 BBS1 BBS2 BBS4 TTC8
14 epileptic encephalopathy, early infantile, 12 9.3 BBS1 BBS2 BBS4 BBS7
15 ataxia-telangiectasia-like disorder 2 9.3 BBS1 BBS2 BBS4 BBS7
16 macular dystrophy, patterned, 3 9.3 BBS1 BBS2 BBS4 BBS7
17 celiac disease 6 9.1 BBIP1 BBS1 BBS2 BBS4 BBS7
18 retinitis pigmentosa 51 9.1 BBS1 BBS2 BBS4 BBS7 TTC8
19 deafness, autosomal recessive 84a 9.1 BBIP1 BBS1 BBS2 BBS4 BBS7
20 retinitis pigmentosa 74 9.1 BBIP1 BBS1 BBS2 BBS4 BBS7
21 lipodystrophy, congenital generalized, type 2 9.1 BBIP1 BBS1 BBS2 BBS4 BBS7
22 congenital heart defects, multiple types, 3 9.0 BBIP1 BBS1 BBS2 BBS4 BBS7
23 impetigo 8.9 BBS1 BBS2 BBS4 INPP5E VPS13B
24 von hippel-lindau syndrome 8.4 BBS1 BBS2 BBS4 BBS7 TTC8 VPS13B
25 trichomoniasis 8.1 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC7
26 cardiomyopathy, dilated, 1dd 5.9 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC5

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:

54

Neurologic- Central Nervous System:
learning disabilities
cognitive impairment

Genitourinary- Kidneys:
renal failure

Growth- Weight:
obesity

Skeletal- Hands:
brachydactyly

Head And Neck- Eyes:
cataracts
retinal dystrophy
retinitis pigmentosa


Clinical features from OMIM:

615995

Human phenotypes related to Bardet-Biedl Syndrome 18:

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

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 18:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.97 BBIP1 BBS1 BBS4 BBS7 EXOC5 EXOC6
2 growth/size/body region MP:0005378 9.91 BBS2 BBS4 BBS7 INPP5E TTC8 BBIP1
3 craniofacial MP:0005382 9.8 BBS1 BBS4 BBS7 INPP5E TTC8
4 nervous system MP:0003631 9.8 BBIP1 BBS1 BBS2 BBS4 BBS7 INPP5E
5 renal/urinary system MP:0005367 9.7 BBS1 BBS2 BBS4 BBS7 EXOC5 INPP5E
6 taste/olfaction MP:0005394 9.35 BBS1 BBS2 BBS4 BBS7 TTC8
7 vision/eye MP:0005391 9.17 BBS1 BBS2 BBS4 BBS7 INPP5E 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:

id Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 18 29

Anatomical Context for Bardet-Biedl Syndrome 18

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

39
Heart, Kidney

Publications for Bardet-Biedl Syndrome 18

Variations for Bardet-Biedl Syndrome 18

ClinVar genetic disease variations for Bardet-Biedl Syndrome 18:

6
id 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

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 15)
id 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 ciliary basal body GO:0036064 9.77 BBS1 BBS2 BBS4 BBS7 TTC8
5 cilium GO:0005929 9.7 BBIP1 BBS1 BBS2 BBS4 BBS7 INPP5E
6 axoneme GO:0005930 9.65 BBS1 BBS7 INPP5E
7 ciliary membrane GO:0060170 9.65 BBS1 BBS2 BBS4 BBS7 TTC8
8 exocyst GO:0000145 9.62 EXOC5 EXOC6 EXOC7 EXOC8
9 cell projection GO:0042995 9.56 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC8
10 photoreceptor connecting cilium GO:0032391 9.55 BBS4 TTC8
11 centriolar satellite GO:0034451 9.54 BBS4 EXOC7
12 BBSome GO:0034464 9.1 BBIP1 BBS1 BBS2 BBS4 BBS7 TTC8
13 plasma membrane GO:0005886 10.18 BBS1 BBS2 BBS4 BBS7 EXOC6 EXOC7
14 cytosol GO:0005829 10.17 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC5
15 cytoplasm GO:0005737 10.16 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC5

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

(show all 28)
id Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.92 BBS1 BBS2 BBS4 BBS7
2 visual perception GO:0007601 9.81 BBS1 BBS2 BBS4 BBS7
3 exocytosis GO:0006887 9.73 EXOC5 EXOC6 EXOC7 EXOC8
4 cilium assembly GO:0060271 9.73 BBIP1 BBS1 BBS2 BBS4 BBS7 TTC8
5 protein localization GO:0008104 9.71 BBS2 BBS4 BBS7
6 fat cell differentiation GO:0045444 9.67 BBS2 BBS4 BBS7 TTC8
7 negative regulation of GTPase activity GO:0034260 9.64 BBS4 TTC8
8 retina homeostasis GO:0001895 9.63 BBS1 BBS4
9 positive regulation of multicellular organism growth GO:0040018 9.63 BBS2 BBS4
10 photoreceptor cell maintenance GO:0045494 9.63 BBS1 BBS2 BBS4
11 cell projection organization GO:0030030 9.63 BBIP1 BBS1 BBS2 BBS4 BBS7 TTC8
12 intracellular transport GO:0046907 9.62 BBS4 BBS7
13 adult behavior GO:0030534 9.61 BBS2 BBS4
14 Golgi to plasma membrane protein transport GO:0043001 9.61 BBS1 BBS2
15 brain morphogenesis GO:0048854 9.6 BBS2 BBS4
16 protein localization to cilium GO:0061512 9.59 BBS1 BBS4
17 regulation of stress fiber assembly GO:0051492 9.58 BBS4 TTC8
18 protein localization to organelle GO:0033365 9.58 BBS2 BBS4
19 melanosome transport GO:0032402 9.58 BBS2 BBS4 BBS7
20 striatum development GO:0021756 9.57 BBS2 BBS4
21 response to leptin GO:0044321 9.56 BBS2 BBS4
22 leptin-mediated signaling pathway GO:0033210 9.55 BBS2 BBS4
23 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.52 BBS2 BBS4
24 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.49 BBS2 BBS4
25 sensory processing GO:0050893 9.48 BBS4 TTC8
26 protein transport GO:0015031 9.36 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC5
27 non-motile cilium assembly GO:1905515 9.26 BBS1 BBS2 BBS4 BBS7
28 transport GO:0006810 10.02 BBIP1 BBS1 BBS2 BBS4 BBS7 EXOC5

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.85 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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