BBS15
MCID: BRD035
MIFTS: 37

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 56 12 73 29 6 15 71
Bbs15 56 12 73
Bardet-Biedl Syndrome, Type 15 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
bardet-biedl syndrome 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110137
OMIM 56 615992
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
MedGen 41 C3150127
SNOMED-CT via HPO 68 258211005
UMLS 71 C3150127

Summaries for Bardet-Biedl Syndrome 15

UniProtKB/Swiss-Prot : 73 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 bardet-biedl syndrome 12 and obsolete: postaxial polydactyly of fingers. 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 Cargo trafficking to the periciliary membrane. Affiliated tissues include heart, eye and kidney, and related phenotypes are growth/size/body region and cellular

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

OMIM : 56 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 all 43)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 12 10.3 WDPCP BBS12
2 obsolete: postaxial polydactyly of fingers 10.2 BBS10 BBIP1
3 borjeson-forssman-lehmann syndrome 10.1 BBS12 BBS10
4 short-rib thoracic dysplasia 3 with or without polydactyly 10.0 WDPCP BBS10 BBIP1
5 ciliopathy 10.0 BBS7 BBS1
6 meckel syndrome, type 6 10.0 WDPCP MKS1
7 joubert syndrome 3 9.9 WDPCP MKS1
8 chromosome 2q35 duplication syndrome 9.8 WDPCP BBS10 BBS1
9 orofaciodigital syndrome vi 9.7 WDPCP MKS1
10 orofaciodigital syndrome 9.7 WDPCP MKS1 BBS4
11 nonsyndromic retinitis pigmentosa 9.7 TTC8 BBS1
12 nephronophthisis 2 9.6 MKS1 BBS1
13 alstrom syndrome 9.6 BBS7 BBS5 BBS10 BBS1
14 mckusick-kaufman syndrome 9.6 BBS7 BBS4 BBS12 BBS1
15 physical disorder 9.5 MKS1 BBS4 BBS1
16 cystic kidney disease 9.4 MKS1 BBS4 BBS1
17 retinal degeneration 9.4 BBS7 BBS4 BBS10 BBS1
18 kartagener syndrome 9.4 MKS1 BBS4 BBS1
19 night blindness, congenital stationary, autosomal dominant 3 9.4 BBS9 BBS5 BBS4 BBS12 BBS10
20 bardet-biedl syndrome 10 9.3 BBS7 BBS4 BBS12 BBS10 BBS1
21 visceral heterotaxy 9.3 MKS1 BBS7 BBS4 BBS1
22 tetralogy of fallot 9.3 BBS7 BBS4 BBS1
23 senior-loken syndrome 1 9.0 MKS1 BBS4 BBS12 BBS10 BBS1
24 nephronophthisis 9.0 MKS1 BBS7 BBS5 BBS4 BBS1
25 retinal disease 8.3 TTC8 BBS9 BBS7 BBS5 BBS4 BBS10
26 bardet-biedl syndrome 1 8.2 WDPCP LZTFL1 BBS9 BBS7 BBS4 BBS12
27 leber congenital amaurosis 8.2 TTC8 MKS1 BBS5 BBS4 BBS12 BBS10
28 meckel syndrome, type 1 8.1 WDPCP MKS1 BBS9 BBS7 BBS5 BBS4
29 bardet-biedl syndrome 19 8.0 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
30 polydactyly 7.8 TTC8 MKS1 LZTFL1 BBS7 BBS4 BBS12
31 fundus dystrophy 7.6 TTC8 MKS1 BBS9 BBS7 BBS5 BBS4
32 joubert syndrome 1 7.4 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
33 bardet-biedl syndrome 17 7.3 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
34 bardet-biedl syndrome 13 7.2 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
35 bardet-biedl syndrome 6.8 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
36 bardet-biedl syndrome 18 6.8 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
37 bardet-biedl syndrome 16 6.8 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
38 bardet-biedl syndrome 14 6.8 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
39 bardet-biedl syndrome 11 6.8 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
40 bardet-biedl syndrome 8 6.8 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
41 bardet-biedl syndrome 6 6.8 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
42 bardet-biedl syndrome 3 6.8 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
43 retinitis pigmentosa 6.8 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 BBIP1 BBS1 BBS10 BBS12 BBS4 BBS5
2 cellular MP:0005384 10.06 BBS1 BBS10 BBS12 BBS4 BBS7 MKS1
3 nervous system MP:0003631 10.06 BBIP1 BBS1 BBS10 BBS12 BBS4 BBS5
4 adipose tissue MP:0005375 10.02 BBS1 BBS10 BBS12 BBS4 BBS5 BBS9
5 craniofacial MP:0005382 9.91 BBS1 BBS4 BBS7 MKS1 TTC8 WDPCP
6 renal/urinary system MP:0005367 9.86 BBS1 BBS10 BBS12 BBS4 BBS7 MKS1
7 limbs/digits/tail MP:0005371 9.85 BBS1 BBS5 BBS7 BBS9 MKS1 WDPCP
8 respiratory system MP:0005388 9.55 BBS1 BBS4 MKS1 TTC8 WDPCP
9 vision/eye MP:0005391 9.36 BBIP1 BBS1 BBS10 BBS12 BBS4 BBS5
10 taste/olfaction MP:0005394 9.26 BBS1 BBS4 BBS7 TTC8

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 29 WDPCP

Anatomical Context for Bardet-Biedl Syndrome 15

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

40
Heart, Eye, Kidney

Publications for Bardet-Biedl Syndrome 15

Articles related to Bardet-Biedl Syndrome 15:

# Title Authors PMID Year
1
Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. 56 6
20671153 2010
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
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 61
21642631 2011

Variations for Bardet-Biedl Syndrome 15

ClinVar genetic disease variations for Bardet-Biedl Syndrome 15:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WDPCP NM_015910.7(WDPCP):c.76-1G>TSNV Pathogenic 45 rs397704728 2:63720075-63720075 2:63492941-63492941
2 WDPCP NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn)SNV Conflicting interpretations of pathogenicity 220911 rs202196322 2:63714613-63714613 2:63487479-63487479
3 WDPCP NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn)SNV Uncertain significance 162669 rs200322968 2:63719990-63719990 2:63492856-63492856
4 WDPCP NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile)SNV Uncertain significance 531816 rs201412509 2:63609227-63609227 2:63382092-63382092
5 WDPCP NM_015910.7(WDPCP):c.628_629TA[3] (p.Lys211fs)short repeat Uncertain significance 631864 rs769674404 2:63664556-63664557 2:63437422-63437423
6 WDPCP NM_015910.7(WDPCP):c.209-1G>ASNV Uncertain significance 631865 rs767481770 2:63713721-63713721 2:63486587-63486587

Expression for Bardet-Biedl Syndrome 15

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

Pathways for Bardet-Biedl Syndrome 15

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

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

GO Terms for Bardet-Biedl Syndrome 15

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.22 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
2 cytosol GO:0005829 10.19 TTC8 MKS1 LZTFL1 BBS9 BBS7 BBS5
3 cytoskeleton GO:0005856 10.01 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
4 microtubule organizing center GO:0005815 9.91 TTC8 MKS1 BBS9 BBS7 BBS5 BBS4
5 cell projection GO:0042995 9.9 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
6 centrosome GO:0005813 9.88 TTC8 MKS1 BBS7 BBS4 BBS1
7 ciliary basal body GO:0036064 9.8 TTC8 MKS1 BBS7 BBS5 BBS4 BBS1
8 axoneme GO:0005930 9.73 WDPCP BBS7 BBS5 BBS1
9 ciliary membrane GO:0060170 9.73 TTC8 BBS9 BBS7 BBS5 BBS4 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 non-motile cilium GO:0097730 9.55 TTC8 BBS4
14 pericentriolar material GO:0000242 9.51 BBS9 BBS4
15 BBSome GO:0034464 9.5 TTC8 BBS9 BBS7 BBS5 BBS4 BBS1
16 cilium GO:0005929 9.36 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.91 BBS9 BBS7 BBS5 BBS4 BBS10 BBS1
2 protein transport GO:0015031 9.91 TTC8 BBS9 BBS7 BBS5 BBS4 BBS1
3 visual perception GO:0007601 9.73 BBS9 BBS7 BBS5 BBS4 BBS10 BBS1
4 smoothened signaling pathway GO:0007224 9.72 WDPCP MKS1 BBS7
5 heart looping GO:0001947 9.71 BBS7 BBS5 BBS4
6 fat cell differentiation GO:0045444 9.71 TTC8 BBS9 BBS7 BBS4
7 retina homeostasis GO:0001895 9.69 BBS4 BBS10 BBS1
8 intracellular transport GO:0046907 9.67 BBS7 BBS5 BBS4
9 protein localization to cilium GO:0061512 9.65 BBS9 BBS4 BBS1
10 melanosome transport GO:0032402 9.63 BBS7 BBS5 BBS4
11 non-motile cilium assembly GO:1905515 9.63 TTC8 MKS1 BBS7 BBS4 BBS10 BBS1
12 photoreceptor cell maintenance GO:0045494 9.62 BBS4 BBS12 BBS10 BBS1
13 regulation of protein localization GO:0032880 9.61 WDPCP TTC8
14 cilium assembly GO:0060271 9.61 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
15 embryonic digit morphogenesis GO:0042733 9.6 WDPCP MKS1
16 negative regulation of GTPase activity GO:0034260 9.59 TTC8 BBS4
17 inner ear receptor cell stereocilium organization GO:0060122 9.58 TTC8 MKS1
18 motile cilium assembly GO:0044458 9.58 MKS1 BBS5
19 chaperone-mediated protein complex assembly GO:0051131 9.57 BBS12 BBS10
20 regulation of stress fiber assembly GO:0051492 9.56 TTC8 BBS4
21 sensory processing GO:0050893 9.52 TTC8 BBS4
22 cell projection organization GO:0030030 9.28 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.73 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.1 TTC8 BBS7 BBS5 BBS4 BBS10 BBS1

Sources for Bardet-Biedl Syndrome 15

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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32 ICD10
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72 UMLS via Orphanet
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