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 56 12 73 29 6 15 71
Bbs18 56 12 73
Bardet-Biedl Syndrome, Type 18 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
bardet-biedl syndrome 18:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110140
OMIM 56 615995
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
UMLS 71 C3806174

Summaries for Bardet-Biedl Syndrome 18

UniProtKB/Swiss-Prot : 73 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 ciliopathy and polydactyly. An important gene associated with Bardet-Biedl Syndrome 18 is BBIP1 (BBSome Interacting Protein 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. 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 : 56 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 top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 ciliopathy 30.3 BBS7 BBS1
2 polydactyly 27.0 TTC8 MKS1 LZTFL1 BBS7 BBS4 BBS2
3 bardet-biedl syndrome 1 26.8 WDPCP LZTFL1 BBS9 BBS7 BBS4 BBS2
4 bardet-biedl syndrome 25.2 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
5 retinitis pigmentosa 25.1 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
6 obsolete: postaxial polydactyly of fingers 10.3 BBS10 BBIP1
7 polydactyly, postaxial, type a1 10.1
8 bardet-biedl syndrome 4 10.1
9 neuroretinitis 10.1
10 hypogonadism 10.1
11 retinitis 10.1
12 hypogonadotropism 10.1
13 laurence-moon syndrome 10.1 BBS5 BBS2
14 borjeson-forssman-lehmann syndrome 10.1 BBS12 BBS10
15 bardet-biedl syndrome 12 9.8 WDPCP BBS12
16 joubert syndrome 4 9.8 MKS1 BBS2
17 inherited retinal disorder 9.8 BBS2 BBS10 BBS1
18 nephronophthisis 2 9.7 MKS1 BBS1
19 cranioectodermal dysplasia 1 9.7 MKS1 BBS9 BBS2
20 short-rib thoracic dysplasia 3 with or without polydactyly 9.6 WDPCP BBS10 BBIP1
21 nonsyndromic retinitis pigmentosa 9.6 TTC8 BBS2 BBS1
22 meckel syndrome, type 6 9.6 WDPCP MKS1
23 retinal degeneration 9.6 BBS7 BBS4 BBS10 BBS1
24 polycystic kidney disease 4 with or without polycystic liver disease 9.6 MKS1 BBS4 BBS2
25 tetralogy of fallot 9.5 BBS7 BBS4 BBS2 BBS1
26 night blindness, congenital stationary, autosomal dominant 3 9.5 BBS9 BBS5 BBS4 BBS12 BBS10
27 joubert syndrome 3 9.5 WDPCP MKS1
28 alstrom syndrome 9.4 BBS7 BBS5 BBS2 BBS10 BBS1
29 orofaciodigital syndrome 9.4 WDPCP MKS1 BBS4
30 physical disorder 9.3 MKS1 BBS4 BBS2 BBS1
31 cystic kidney disease 9.3 MKS1 BBS4 BBS2 BBS1
32 kartagener syndrome 9.3 MKS1 BBS4 BBS2 BBS1
33 mckusick-kaufman syndrome 9.3 BBS7 BBS4 BBS2 BBS12 BBS1
34 orofaciodigital syndrome vi 9.2 WDPCP MKS1
35 primary ciliary dyskinesia 9.2 MKS1 BBS4 BBS2 BBS1
36 chromosome 2q35 duplication syndrome 9.2 WDPCP BBS2 BBS10 BBS1
37 visceral heterotaxy 9.1 MKS1 BBS7 BBS4 BBS2 BBS1
38 bardet-biedl syndrome 10 9.1 BBS7 BBS4 BBS2 BBS12 BBS10 BBS1
39 body mass index quantitative trait locus 11 9.0 TTC8 BBS4 BBS2 BBS1 BBIP1
40 nephronophthisis 8.9 MKS1 BBS7 BBS5 BBS4 BBS2 BBS1
41 senior-loken syndrome 1 8.9 MKS1 BBS4 BBS2 BBS12 BBS10 BBS1
42 retinal disease 8.4 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
43 leber congenital amaurosis 8.2 TTC8 MKS1 BBS5 BBS4 BBS2 BBS12
44 bardet-biedl syndrome 19 8.1 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
45 fundus dystrophy 7.8 TTC8 MKS1 BBS9 BBS7 BBS5 BBS4
46 meckel syndrome, type 1 7.6 WDPCP MKS1 BBS9 BBS7 BBS5 BBS4
47 bardet-biedl syndrome 13 7.4 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
48 joubert syndrome 1 7.1 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
49 bardet-biedl syndrome 17 7.0 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
50 bardet-biedl syndrome 16 7.0 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 obesity 31 HP:0001513
2 cataract 31 HP:0000518
3 brachydactyly 31 HP:0001156
4 rod-cone dystrophy 31 HP:0000510
5 cognitive impairment 31 HP:0100543
6 renal insufficiency 31 HP:0000083

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Neurologic Central Nervous System:
cognitive impairment
learning disabilities

Genitourinary Kidneys:
renal failure

Skeletal Hands:
brachydactyly

Head And Neck Eyes:
retinal dystrophy
cataracts
retinitis pigmentosa

Clinical features from OMIM:

615995

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 18:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
2 cellular MP:0005384 10.09 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
3 adipose tissue MP:0005375 10.08 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
4 behavior/neurological MP:0005386 10.06 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
5 nervous system MP:0003631 10.03 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
6 craniofacial MP:0005382 9.88 BBS1 BBS4 BBS7 MKS1 TTC8 WDPCP
7 limbs/digits/tail MP:0005371 9.87 BBS1 BBS2 BBS5 BBS7 BBS9 MKS1
8 renal/urinary system MP:0005367 9.81 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
9 vision/eye MP:0005391 9.4 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
10 taste/olfaction MP:0005394 9.35 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:

40
Kidney, Heart, Eye, Liver

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). 61 56 6
24026985 2014
2
Bardet-Biedl Syndrome 61 6
20301537 2003
3
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6
12567324 2003
4
Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins. 61
25964651 2015

Variations for Bardet-Biedl Syndrome 18

ClinVar genetic disease variations for Bardet-Biedl Syndrome 18:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBIP1 NM_001195306.1(BBIP1):c.173T>G (p.Leu58Ter)SNV Pathogenic 126379 rs515726134 10:112660224-112660224 10:110900466-110900466
2 BBIP1 NM_001195304.1(BBIP1):c.191C>G (p.Ala64Gly)SNV Uncertain significance 548535 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.13 TTC8 MKS1 LZTFL1 BBS9 BBS7 BBS5
2
Show member pathways
11.73 TTC8 LZTFL1 BBS9 BBS7 BBS5 BBS4

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 cytoplasm GO:0005737 10.25 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
2 cytosol GO:0005829 10.22 TTC8 MKS1 LZTFL1 BBS9 BBS7 BBS5
3 cytoskeleton GO:0005856 10.06 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
4 microtubule organizing center GO:0005815 9.97 TTC8 MKS1 BBS9 BBS7 BBS5 BBS4
5 cell projection GO:0042995 9.93 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
6 centrosome GO:0005813 9.88 TTC8 MKS1 BBS7 BBS4 BBS1
7 ciliary basal body GO:0036064 9.87 TTC8 MKS1 BBS7 BBS5 BBS4 BBS2
8 ciliary membrane GO:0060170 9.8 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
9 axoneme GO:0005930 9.73 WDPCP BBS7 BBS5 BBS1
10 centriolar satellite GO:0034451 9.67 BBS9 BBS5 BBS4
11 ciliary transition zone GO:0035869 9.63 MKS1 BBS9 BBS4
12 photoreceptor connecting cilium GO:0032391 9.56 TTC8 BBS4
13 BBSome GO:0034464 9.56 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
14 non-motile cilium GO:0097730 9.55 TTC8 BBS4
15 pericentriolar material GO:0000242 9.54 BBS9 BBS4
16 cilium GO:0005929 9.4 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 10 BBS9 BBS7 BBS5 BBS4 BBS2 BBS10
2 protein transport GO:0015031 9.97 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
3 fat cell differentiation GO:0045444 9.8 TTC8 BBS9 BBS7 BBS4 BBS2
4 visual perception GO:0007601 9.8 BBS9 BBS7 BBS5 BBS4 BBS2 BBS10
5 protein localization GO:0008104 9.75 BBS7 BBS4 BBS2
6 smoothened signaling pathway GO:0007224 9.73 WDPCP MKS1 BBS7
7 melanosome transport GO:0032402 9.73 BBS7 BBS5 BBS4 BBS2
8 heart looping GO:0001947 9.72 BBS7 BBS5 BBS4
9 photoreceptor cell maintenance GO:0045494 9.72 BBS4 BBS2 BBS12 BBS10 BBS1
10 retina homeostasis GO:0001895 9.7 BBS4 BBS10 BBS1
11 non-motile cilium assembly GO:1905515 9.7 TTC8 MKS1 BBS7 BBS4 BBS2 BBS10
12 intracellular transport GO:0046907 9.67 BBS7 BBS5 BBS4
13 negative regulation of GTPase activity GO:0034260 9.65 TTC8 BBS4
14 positive regulation of multicellular organism growth GO:0040018 9.65 BBS4 BBS2
15 protein localization to cilium GO:0061512 9.65 BBS9 BBS4 BBS1
16 cilium assembly GO:0060271 9.65 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
17 Golgi to plasma membrane protein transport GO:0043001 9.64 BBS2 BBS1
18 adult behavior GO:0030534 9.64 BBS4 BBS2
19 inner ear receptor cell stereocilium organization GO:0060122 9.63 TTC8 MKS1
20 motile cilium assembly GO:0044458 9.63 MKS1 BBS5
21 brain morphogenesis GO:0048854 9.62 BBS4 BBS2
22 protein localization to organelle GO:0033365 9.62 BBS4 BBS2
23 chaperone-mediated protein complex assembly GO:0051131 9.61 BBS12 BBS10
24 regulation of stress fiber assembly GO:0051492 9.61 TTC8 BBS4
25 striatum development GO:0021756 9.6 BBS4 BBS2
26 response to leptin GO:0044321 9.59 BBS4 BBS2
27 leptin-mediated signaling pathway GO:0033210 9.58 BBS4 BBS2
28 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.57 BBS4 BBS2
29 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.54 BBS4 BBS2
30 sensory processing GO:0050893 9.51 TTC8 BBS4
31 cell projection organization GO:0030030 9.32 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5

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 9.77 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.17 TTC8 BBS7 BBS5 BBS4 BBS2 BBS10

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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