BBS15
MCID: BRD035
MIFTS: 42

Bardet-Biedl Syndrome 15 (BBS15)

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 15

MalaCards integrated aliases for Bardet-Biedl Syndrome 15:

Name: Bardet-Biedl Syndrome 15 58 12 76 30 6 15 74
Bbs15 58 12 76
Bardet-Biedl Syndrome, Type 15 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one patient described as having bbs, but no clinical details have been reported (last curated october 2014)


Classifications:



External Ids:

Disease Ontology 12 DOID:0110137
OMIM 58 615992
MeSH 45 D020788
ICD10 34 Q87.89
MedGen 43 C3150127
UMLS 74 C3150127

Summaries for Bardet-Biedl Syndrome 15

UniProtKB/Swiss-Prot : 76 Bardet-Biedl syndrome 15: 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 15, also known as bbs15, is related to encephalocele and bardet-biedl syndrome 8. An important gene associated with Bardet-Biedl Syndrome 15 is WDPCP (WD Repeat Containing Planar Cell Polarity Effector), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Interleukin-4 and 13 signaling. Affiliated tissues include heart, lung and skin, and related phenotypes are cellular and growth/size/body region

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the WDPCP gene on chromosome 2p15.

OMIM : 58 BBS15 is a form of BBS caused by mutation in the WDPCP gene, a planar cell polarity gene (Kim et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615992)

Related Diseases for Bardet-Biedl Syndrome 15

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 encephalocele 10.3 CC2D2A TMEM67
2 bardet-biedl syndrome 8 10.2 BBS2 BBS4
3 bardet-biedl syndrome 14 10.2 BBS2 TMEM67
4 senior-loken syndrome 1 10.2 CC2D2A NPHP3 TMEM67
5 bardet-biedl syndrome 3 10.2 BBS2 BBS4
6 cystic kidney disease 10.2 CC2D2A NPHP3 TMEM67
7 congenital hepatic fibrosis 10.2 CC2D2A RPGRIP1L TMEM67
8 meckel syndrome, type 3 10.2 CC2D2A RPGRIP1L TMEM67
9 coach syndrome 10.2 CC2D2A RPGRIP1L TMEM67
10 bardet-biedl syndrome 18 10.2 BBS2 BBS4
11 bardet-biedl syndrome 4 10.1 BBS2 BBS4
12 hydrolethalus syndrome 1 10.1 BBS2 BBS4 TMEM67
13 bardet-biedl syndrome 1 10.0 BBS2 BBS4 MKKS
14 bardet-biedl syndrome 6 10.0 BBS2 BBS4 MKKS
15 mckusick-kaufman syndrome 10.0 BBS2 BBS4 MKKS
16 bardet-biedl syndrome 17 10.0 BBS2 BBS4
17 diversion colitis 10.0 ICAM1 IL4
18 meckel syndrome, type 6 10.0 CC2D2A RPGRIP1L TMEM67 WDPCP
19 chronic conjunctivitis 10.0 ICAM1 IL4
20 nephronophthisis 11 10.0 CC2D2A NPHP3 RPGRIP1L TMEM67
21 nephronophthisis 10.0 CC2D2A NPHP3 RPGRIP1L TMEM67
22 vernal keratoconjunctivitis 10.0 ICAM1 IL4
23 polydactyly 10.0 BBS2 BBS4 MKKS
24 lichen disease 10.0 ICAM1 IL4
25 bardet-biedl syndrome 2 9.9 BBS2 ICAM1 MKKS
26 tropical endomyocardial fibrosis 9.9 IL10 IL4
27 endomyocardial fibrosis 9.9 IL10 IL4
28 hyperlucent lung 9.9 IL10 IL4
29 tungiasis 9.9 IL10 IL4
30 fundus dystrophy 9.9 BBS2 BBS4 CC2D2A MKKS
31 nickel allergic contact dermatitis 9.9 IL10 IL4
32 retinitis pigmentosa 22 9.9 IL10 IL4
33 baylisascariasis 9.9 IL10 IL4
34 apple allergy 9.8 IL10 IL4
35 beta-lactam allergy 9.8 IL10 IL4
36 gaucher disease, type ii 9.8 IL10 IL4
37 joubert syndrome 1 9.8 CC2D2A NPHP3 RPGRIP1L TMEM67 WDPCP
38 eosinophilic meningitis 9.8 IL10 IL4
39 autoimmune gastritis 9.8 IL10 IL4
40 filarial elephantiasis 9.8 IL10 IL4
41 meckel syndrome, type 1 9.8 BBS4 CC2D2A RPGRIP1L TMEM67 WDPCP
42 orofacial granulomatosis 9.8 IL10 IL4
43 buruli ulcer 9.8 IL10 IL4
44 primary systemic mycosis 9.8 IL10 IL4
45 mycoplasma pneumoniae pneumonia 9.8 IL10 IL4
46 plasmodium vivax malaria 9.8 ICAM1 IL10
47 eales disease 9.8 IL10 IL4
48 coccidiosis 9.8 IL10 IL4
49 milk allergy 9.8 IL10 IL4
50 peritonitis 9.7 ICAM1 IL10 TMEM67

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 15:



Diseases related to Bardet-Biedl Syndrome 15

Symptoms & Phenotypes for Bardet-Biedl Syndrome 15

Clinical features from OMIM:

615992

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 15:

47 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 BBS2 BBS4 CC2D2A ICAM1 IL10 IL4
2 growth/size/body region MP:0005378 10.24 BBS2 BBS4 CC2D2A ICAM1 IL10 IL4
3 cardiovascular system MP:0005385 10.21 BBS4 CC2D2A ICAM1 IL10 MKKS NPHP3
4 craniofacial MP:0005382 10.19 BBS4 CC2D2A IL10 IL4 MKKS NPHP3
5 digestive/alimentary MP:0005381 10.18 BBS2 BBS4 CC2D2A ICAM1 IL10 IL4
6 nervous system MP:0003631 10.1 BBS2 BBS4 CC2D2A GRP ICAM1 IL10
7 mortality/aging MP:0010768 10.07 BBS4 CC2D2A ICAM1 IL10 IL4 MKKS
8 embryo MP:0005380 10.05 BBS4 CC2D2A IL10 NPHP3 RPGRIP1L TMEM67
9 limbs/digits/tail MP:0005371 9.98 BBS2 CC2D2A IL10 MKKS RPGRIP1L TMEM67
10 integument MP:0010771 9.93 BBS2 BBS4 CC2D2A ICAM1 IL10 IL4
11 hearing/vestibular/ear MP:0005377 9.88 BBS4 CC2D2A MKKS RPGRIP1L WDPCP
12 liver/biliary system MP:0005370 9.88 BBS2 BBS4 IL10 IL4 RPGRIP1L TMEM67
13 renal/urinary system MP:0005367 9.86 BBS2 BBS4 CC2D2A IL4 NPHP3 RPGRIP1L
14 respiratory system MP:0005388 9.7 BBS4 CC2D2A IL10 IL4 MKKS RPGRIP1L
15 vision/eye MP:0005391 9.28 BBS2 BBS4 CC2D2A ICAM1 IL10 IL4
16 taste/olfaction MP:0005394 9.13 BBS2 BBS4 MKKS

Drugs & Therapeutics for Bardet-Biedl Syndrome 15

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 15

Genetic Tests for Bardet-Biedl Syndrome 15

Genetic tests related to Bardet-Biedl Syndrome 15:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 15 30 WDPCP

Anatomical Context for Bardet-Biedl Syndrome 15

MalaCards organs/tissues related to Bardet-Biedl Syndrome 15:

42
Heart, Lung, Skin, Kidney, Eye

Publications for Bardet-Biedl Syndrome 15

Articles related to Bardet-Biedl Syndrome 15:

# Title Authors Year
1
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. ( 20671153 )
2010

Variations for Bardet-Biedl Syndrome 15

ClinVar genetic disease variations for Bardet-Biedl Syndrome 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDPCP NM_015910.6(WDPCP): c.76-1G> T single nucleotide variant Pathogenic rs397704728 GRCh37 Chromosome 2, 63720075: 63720075
2 WDPCP NM_015910.6(WDPCP): c.76-1G> T single nucleotide variant Pathogenic rs397704728 GRCh38 Chromosome 2, 63492941: 63492941
3 WDPCP NM_015910.6(WDPCP): c.176T> A (p.Ile59Asn) single nucleotide variant Uncertain significance rs202196322 GRCh37 Chromosome 2, 63714613: 63714613
4 WDPCP NM_015910.6(WDPCP): c.176T> A (p.Ile59Asn) single nucleotide variant Uncertain significance rs202196322 GRCh38 Chromosome 2, 63487479: 63487479
5 WDPCP NM_015910.6(WDPCP): c.1438G> A (p.Val480Ile) single nucleotide variant Uncertain significance rs201412509 GRCh38 Chromosome 2, 63382092: 63382092
6 WDPCP NM_015910.6(WDPCP): c.1438G> A (p.Val480Ile) single nucleotide variant Uncertain significance rs201412509 GRCh37 Chromosome 2, 63609227: 63609227

Expression for Bardet-Biedl Syndrome 15

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 15.

Pathways for Bardet-Biedl Syndrome 15

GO Terms for Bardet-Biedl Syndrome 15

Cellular components related to Bardet-Biedl Syndrome 15 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.87 BBS2 BBS4 CC2D2A MKKS RPGRIP1L TMEM67
2 centrosome GO:0005813 9.8 BBS4 MKKS RPGRIP1L TMEM67
3 microtubule organizing center GO:0005815 9.76 BBS2 BBS4 MKKS RPGRIP1L
4 cell projection GO:0042995 9.7 BBS2 BBS4 CC2D2A NPHP3 RPGRIP1L TMEM67
5 motile cilium GO:0031514 9.65 BBS2 BBS4 MKKS
6 ciliary basal body GO:0036064 9.56 BBS2 BBS4 MKKS RPGRIP1L
7 ciliary membrane GO:0060170 9.54 BBS2 BBS4 TMEM67
8 MKS complex GO:0036038 9.43 CC2D2A TMEM67
9 BBSome GO:0034464 9.4 BBS2 BBS4
10 ciliary transition zone GO:0035869 9.26 BBS4 CC2D2A RPGRIP1L TMEM67
11 cilium GO:0005929 9.17 BBS2 BBS4 CC2D2A NPHP3 RPGRIP1L TMEM67

Biological processes related to Bardet-Biedl Syndrome 15 according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.85 BBS2 BBS4 MKKS
2 kidney development GO:0001822 9.81 NPHP3 RPGRIP1L WDPCP
3 ciliary basal body-plasma membrane docking GO:0097711 9.81 CC2D2A RPGRIP1L TMEM67
4 cell projection organization GO:0030030 9.8 BBS2 BBS4 CC2D2A TMEM67 WDPCP
5 cerebral cortex development GO:0021987 9.79 BBS2 BBS4 MKKS
6 fat cell differentiation GO:0045444 9.79 BBS2 BBS4 MKKS
7 hippocampus development GO:0021766 9.77 BBS2 BBS4 MKKS
8 camera-type eye development GO:0043010 9.77 CC2D2A RPGRIP1L WDPCP
9 heart looping GO:0001947 9.76 BBS4 MKKS NPHP3
10 determination of left/right symmetry GO:0007368 9.76 CC2D2A MKKS NPHP3 RPGRIP1L
11 social behavior GO:0035176 9.75 BBS4 GRP MKKS
12 negative regulation of endothelial cell apoptotic process GO:2000352 9.72 ICAM1 IL10 IL4
13 positive regulation of multicellular organism growth GO:0040018 9.71 BBS2 BBS4 MKKS
14 brain morphogenesis GO:0048854 9.69 BBS2 BBS4 MKKS
15 adult behavior GO:0030534 9.67 BBS2 BBS4
16 intracellular transport GO:0046907 9.67 BBS4 MKKS
17 melanosome transport GO:0032402 9.67 BBS2 BBS4 MKKS
18 vasodilation GO:0042311 9.66 BBS2 MKKS
19 protein localization to organelle GO:0033365 9.66 BBS2 BBS4
20 face development GO:0060324 9.65 BBS4 MKKS
21 developmental process GO:0032502 9.65 MKKS RPGRIP1L
22 negative regulation of actin filament polymerization GO:0030837 9.65 BBS4 MKKS
23 striatum development GO:0021756 9.65 BBS2 BBS4 MKKS
24 regulation of stress fiber assembly GO:0051492 9.64 BBS4 MKKS
25 artery smooth muscle contraction GO:0014824 9.63 BBS2 MKKS
26 regulation of ruffle assembly GO:1900027 9.62 ICAM1 WDPCP
27 positive regulation of MHC class II biosynthetic process GO:0045348 9.61 IL10 IL4
28 response to leptin GO:0044321 9.61 BBS2 BBS4 MKKS
29 regulation of isotype switching GO:0045191 9.57 IL10 IL4
30 type 2 immune response GO:0042092 9.56 IL10 IL4
31 photoreceptor cell maintenance GO:0045494 9.56 BBS2 BBS4 MKKS NPHP3
32 leptin-mediated signaling pathway GO:0033210 9.54 BBS2 BBS4 MKKS
33 convergent extension involved in gastrulation GO:0060027 9.52 MKKS NPHP3
34 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.5 BBS2 BBS4 MKKS
35 non-motile cilium assembly GO:1905515 9.35 BBS2 BBS4 CC2D2A MKKS RPGRIP1L
36 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.33 BBS2 BBS4 MKKS
37 cilium assembly GO:0060271 9.23 BBS2 BBS4 CC2D2A MKKS NPHP3 RPGRIP1L

Molecular functions related to Bardet-Biedl Syndrome 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 8.8 BBS2 BBS4 MKKS

Sources for Bardet-Biedl Syndrome 15

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