BBS14
MCID: BRD032
MIFTS: 45

Bardet-Biedl Syndrome 14 (BBS14)

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 14

MalaCards integrated aliases for Bardet-Biedl Syndrome 14:

Name: Bardet-Biedl Syndrome 14 58 12 76 30 6 15 74
Bbs14 58 12 76
Bardet-Biedl Syndrome 14, Modifier of 58 6
Bardet-Biedl Syndrome, Type 14 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one patient with limited clinical information has been reported (last curated october 2014)


HPO:

33
bardet-biedl syndrome 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110136
OMIM 58 615991
MeSH 45 D020788
ICD10 34 Q87.89
MedGen 43 C2673874
UMLS 74 C2673874

Summaries for Bardet-Biedl Syndrome 14

UniProtKB/Swiss-Prot : 76 Bardet-Biedl syndrome 14: 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 14, also known as bbs14, is related to joubert syndrome with oculorenal anomalies and nonsyndromic retinitis pigmentosa. An important gene associated with Bardet-Biedl Syndrome 14 is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drug cysteine has been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are obesity and intellectual disability

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21.

OMIM : 58 BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615991)

Related Diseases for Bardet-Biedl Syndrome 14

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome with oculorenal anomalies 10.4 CC2D2A CEP290
2 nonsyndromic retinitis pigmentosa 10.4 BBS1 BBS2
3 meckel syndrome, type 4 10.3 CEP290 MKS1
4 polydactyly, postaxial, type a1 10.3 BBS12 CC2D2A
5 meckel syndrome, type 2 10.3 MKS1 TMEM67
6 bardet-biedl syndrome 19 10.3 BBS10 BBS2
7 bardet-biedl syndrome 16 10.3 BBS1 SDCCAG8
8 meckel syndrome, type 7 10.3 MKS1 NPHP3
9 joubert syndrome 6 10.3 CEP290 MKS1 TMEM67
10 retinal aplasia 10.3 CEP290 SDCCAG8
11 pathologic nystagmus 10.2 CEP290 MKS1 TMEM67
12 bardet-biedl syndrome 18 10.2 BBS1 BBS2 BBS4
13 bardet-biedl syndrome 4 10.2 BBS1 BBS2 BBS4
14 nephronophthisis 15 10.2 BBS5 BBS9
15 bardet-biedl syndrome 5 10.2 BBS2 BBS5
16 nephronophthisis 16 10.2 CEP290 SDCCAG8
17 nephronophthisis 7 10.2 BBS1 TRIM32
18 bardet-biedl syndrome 6 10.1 BBS1 BBS10 BBS2 BBS4
19 mckusick-kaufman syndrome 10.1 BBS1 BBS12 BBS2 BBS4
20 encephalocele 10.1 CC2D2A CEP290 MKS1 TMEM67
21 bardet-biedl syndrome 17 10.1 BBS1 BBS2 BBS4 BBS9
22 congenital hepatic fibrosis 10.1 CC2D2A RPGRIP1L TMEM67
23 coach syndrome 10.1 CC2D2A RPGRIP1L TMEM67
24 hydrolethalus syndrome 1 10.1 BBS2 BBS4 MKS1 TMEM67
25 cystic kidney disease 10.1 CC2D2A NPHP3 TMEM67
26 bardet-biedl syndrome 1 10.0 BBS1 BBS10 BBS2 BBS4 BBS9
27 bardet-biedl syndrome 11 10.0 BBS12 BBS5 BBS9 TRIM32
28 meckel syndrome, type 6 10.0 CC2D2A MKS1 RPGRIP1L TMEM67
29 polydactyly 10.0 BBS1 BBS10 BBS2 BBS4 MKS1
30 bardet-biedl syndrome 8 10.0 BBS1 BBS10 BBS2 BBS4 BBS5
31 bardet-biedl syndrome 3 9.9 BBS1 BBS2 BBS4 BBS5 BBS9
32 nephronophthisis 2 9.9 MKS1 NPHP3
33 meckel syndrome, type 3 9.9 CC2D2A CEP290 MKS1 RPGRIP1L TMEM67
34 senior-loken syndrome 1 9.8 CC2D2A CEP290 MKS1 NPHP3 SDCCAG8 TMEM67
35 nephronophthisis 11 9.7 CC2D2A CEP290 NPHP3 RPGRIP1L SDCCAG8 TMEM67
36 body mass index quantitative trait locus 11 9.7 BBS1 BBS2 BBS4 CCK NMB
37 joubert syndrome 1 9.7 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L TMEM67
38 meckel syndrome, type 1 9.6 BBS1 BBS4 CC2D2A CEP290 MKS1 RPGRIP1L
39 duodenal gastrinoma 9.6 CCK GRP
40 fundus dystrophy 9.6 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
41 nephronophthisis 9.5 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L SDCCAG8
42 bardet-biedl syndrome 15 9.2 BBS2 BBS4 CC2D2A GRP NPHP3 RPGRIP1L
43 retinitis pigmentosa 9.1 BBS1 BBS10 BBS12 BBS2 BBS4 CC2D2A
44 bardet-biedl syndrome 8.7 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
45 bardet-biedl syndrome 13 8.7 BBS1 BBS10 BBS12 BBS2 BBS4 CC2D2A

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 14:



Diseases related to Bardet-Biedl Syndrome 14

Symptoms & Phenotypes for Bardet-Biedl Syndrome 14

Human phenotypes related to Bardet-Biedl Syndrome 14:

33
# Description HPO Frequency HPO Source Accession
1 obesity 33 HP:0001513
2 intellectual disability 33 HP:0001249
3 global developmental delay 33 HP:0001263
4 rod-cone dystrophy 33 HP:0000510

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Head And Neck Eyes:
retinitis pigmentosa

Neurologic Central Nervous System:
developmental delay
mental retardation

Genitourinary Kidneys:
renal disease

Clinical features from OMIM:

615991

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 14:

47 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.4 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
2 behavior/neurological MP:0005386 10.37 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
3 nervous system MP:0003631 10.33 BBS1 BBS10 BBS12 BBS2 BBS4 CC2D2A
4 homeostasis/metabolism MP:0005376 10.32 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
5 cellular MP:0005384 10.24 BBS1 BBS10 BBS2 BBS4 CC2D2A CEP290
6 craniofacial MP:0005382 10.22 BBS1 BBS4 CC2D2A CEP290 LGALS1 MKS1
7 cardiovascular system MP:0005385 10.2 BBS1 BBS4 BBS5 CC2D2A CEP290 MKS1
8 renal/urinary system MP:0005367 10.18 BBS1 BBS10 BBS12 BBS2 BBS4 CC2D2A
9 adipose tissue MP:0005375 10.17 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
10 limbs/digits/tail MP:0005371 10.11 BBS1 BBS2 BBS5 BBS9 CC2D2A MKS1
11 digestive/alimentary MP:0005381 10.05 BBS2 BBS4 CC2D2A MKS1 RPGRIP1L SDCCAG8
12 reproductive system MP:0005389 9.92 BBS1 BBS2 BBS4 CEP290 LGALS1 MKS1
13 liver/biliary system MP:0005370 9.91 BBS2 BBS4 CEP290 MKS1 RPGRIP1L TMEM67
14 respiratory system MP:0005388 9.8 BBS1 BBS4 CC2D2A CEP290 LGALS1 MKS1
15 skeleton MP:0005390 9.76 BBS12 BBS5 BBS9 CEP290 MKS1 NPHP3
16 taste/olfaction MP:0005394 9.35 BBS1 BBS2 BBS4 CEP290 LGALS1
17 vision/eye MP:0005391 9.32 BBS1 BBS10 BBS12 BBS2 BBS4 CC2D2A

Drugs & Therapeutics for Bardet-Biedl Syndrome 14

Drugs for Bardet-Biedl Syndrome 14 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 cysteine Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study to Evaluate QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Active, not recruiting NCT03140969 Phase 1, Phase 2 QR-110
2 Single Ascending Dose Study in Participants With LCA10 Not yet recruiting NCT03872479 Phase 1, Phase 2 AGN-151587
3 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678
4 Natural History Study of CEP290-Related Retinal Degeneration Recruiting NCT03396042

Search NIH Clinical Center for Bardet-Biedl Syndrome 14

Genetic Tests for Bardet-Biedl Syndrome 14

Genetic tests related to Bardet-Biedl Syndrome 14:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 14 30 CEP290 TMEM67

Anatomical Context for Bardet-Biedl Syndrome 14

MalaCards organs/tissues related to Bardet-Biedl Syndrome 14:

42
Heart

Publications for Bardet-Biedl Syndrome 14

Variations for Bardet-Biedl Syndrome 14

ClinVar genetic disease variations for Bardet-Biedl Syndrome 14:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP290 NM_025114.3(CEP290): c.6277delG (p.Val2093Serfs) deletion Pathogenic rs771454167 GRCh38 Chromosome 12, 88062772: 88062772
2 CEP290 NM_025114.3(CEP290): c.6277delG (p.Val2093Serfs) deletion Pathogenic rs771454167 GRCh37 Chromosome 12, 88456549: 88456549
3 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
4 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh38 Chromosome 12, 88077263: 88077263
5 CEP290 NM_025114.3(CEP290): c.5704G> T (p.Glu1902Ter) single nucleotide variant Pathogenic rs267606719 GRCh37 Chromosome 12, 88471004: 88471004
6 CEP290 NM_025114.3(CEP290): c.5704G> T (p.Glu1902Ter) single nucleotide variant Pathogenic rs267606719 GRCh38 Chromosome 12, 88077227: 88077227
7 TMEM67 NM_153704.5(TMEM67): c.958A> T (p.Ser320Cys) single nucleotide variant risk factor rs111619594 GRCh37 Chromosome 8, 94793190: 94793190
8 TMEM67 NM_153704.5(TMEM67): c.958A> T (p.Ser320Cys) single nucleotide variant risk factor rs111619594 GRCh38 Chromosome 8, 93780962: 93780962
9 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
10 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh38 Chromosome 8, 93781725: 93781725
11 TMEM67 NM_153704.5(TMEM67): c.2397T> C (p.Asp799=) single nucleotide variant Benign rs117195541 GRCh37 Chromosome 8, 94817064: 94817064
12 TMEM67 NM_153704.5(TMEM67): c.2397T> C (p.Asp799=) single nucleotide variant Benign rs117195541 GRCh38 Chromosome 8, 93804836: 93804836
13 CEP290 NM_025114.3(CEP290): c.7394_7395delAG (p.Glu2465Valfs) deletion Uncertain significance rs569673313 GRCh37 Chromosome 12, 88443006: 88443007
14 CEP290 NM_025114.3(CEP290): c.7394_7395delAG (p.Glu2465Valfs) deletion Uncertain significance rs569673313 GRCh38 Chromosome 12, 88049229: 88049230
15 CEP290 NM_025114.3(CEP290): c.1419_1423del (p.Ile474Argfs) deletion Pathogenic rs771266705 GRCh37 Chromosome 12, 88513990: 88513994
16 CEP290 NM_025114.3(CEP290): c.1419_1423del (p.Ile474Argfs) deletion Pathogenic rs771266705 GRCh38 Chromosome 12, 88120213: 88120217

Expression for Bardet-Biedl Syndrome 14

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 14.

Pathways for Bardet-Biedl Syndrome 14

GO Terms for Bardet-Biedl Syndrome 14

Cellular components related to Bardet-Biedl Syndrome 14 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.97 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
2 ciliary basal body GO:0036064 9.91 BBS1 BBS2 BBS4 BBS5 CEP290 MKS1
3 centriole GO:0005814 9.81 BBS4 CEP290 MKS1 SDCCAG8
4 ciliary membrane GO:0060170 9.8 BBS1 BBS2 BBS4 BBS5 BBS9 TMEM67
5 MKS complex GO:0036038 9.73 CC2D2A CEP290 MKS1 TMEM67
6 centriolar satellite GO:0034451 9.71 BBS4 BBS9 CEP290 SDCCAG8
7 photoreceptor connecting cilium GO:0032391 9.7 BBS4 CEP290 RPGRIP1L
8 BBSome GO:0034464 9.65 BBS1 BBS2 BBS4 BBS5 BBS9
9 pericentriolar material GO:0000242 9.56 BBS4 BBS9
10 axoneme GO:0005930 9.55 BBS1 RPGRIP1L
11 ciliary transition zone GO:0035869 9.5 BBS4 BBS9 CC2D2A CEP290 MKS1 RPGRIP1L
12 cilium GO:0005929 9.44 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
13 cytoplasm GO:0005737 10.38 BBS1 BBS2 BBS4 BBS5 BBS9 CC2D2A
14 cytosol GO:0005829 10.35 BBS1 BBS2 BBS4 BBS5 BBS9 CC2D2A
15 cytoskeleton GO:0005856 10.22 BBS1 BBS2 BBS4 BBS5 BBS9 CC2D2A
16 microtubule organizing center GO:0005815 10.06 BBS1 BBS2 BBS4 BBS5 BBS9 CEP290
17 centrosome GO:0005813 10.04 BBS1 BBS4 CEP290 MKS1 RPGRIP1L SDCCAG8

Biological processes related to Bardet-Biedl Syndrome 14 according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.99 BBS1 BBS10 BBS2 BBS4 BBS5 BBS9
2 visual perception GO:0007601 9.85 BBS1 BBS10 BBS2 BBS4 BBS5 BBS9
3 cell projection organization GO:0030030 9.81 BBS1 BBS2 BBS4 BBS5 BBS9 CC2D2A
4 neuron migration GO:0001764 9.8 BBS4 CCK SDCCAG8
5 ciliary basal body-plasma membrane docking GO:0097711 9.8 CC2D2A CEP290 MKS1 RPGRIP1L SDCCAG8 TMEM67
6 neuropeptide signaling pathway GO:0007218 9.79 GRP NMB NPS
7 neural tube closure GO:0001843 9.77 BBS4 CC2D2A MKS1
8 heart looping GO:0001947 9.75 BBS4 BBS5 NPHP3
9 determination of left/right symmetry GO:0007368 9.73 CC2D2A MKS1 NPHP3 RPGRIP1L
10 photoreceptor cell maintenance GO:0045494 9.73 BBS1 BBS10 BBS12 BBS2 BBS4 NPHP3
11 fat cell differentiation GO:0045444 9.71 BBS2 BBS4 BBS9 TRIM32
12 retina homeostasis GO:0001895 9.7 BBS1 BBS10 BBS4
13 protein localization to cilium GO:0061512 9.67 BBS1 BBS4 BBS9
14 Golgi to plasma membrane protein transport GO:0043001 9.65 BBS1 BBS2
15 eating behavior GO:0042755 9.65 BBS12 CCK
16 regulation of smoothened signaling pathway GO:0008589 9.65 MKS1 RPGRIP1L
17 motile cilium assembly GO:0044458 9.65 BBS5 CC2D2A MKS1
18 brain morphogenesis GO:0048854 9.64 BBS2 BBS4
19 protein localization to organelle GO:0033365 9.64 BBS2 BBS4
20 chaperone-mediated protein complex assembly GO:0051131 9.63 BBS10 BBS12
21 head development GO:0060322 9.63 MKS1 RPGRIP1L
22 melanosome transport GO:0032402 9.63 BBS2 BBS4 BBS5
23 striatum development GO:0021756 9.62 BBS2 BBS4
24 embryonic brain development GO:1990403 9.61 CC2D2A MKS1
25 response to leptin GO:0044321 9.59 BBS2 BBS4
26 leptin-mediated signaling pathway GO:0033210 9.58 BBS2 BBS4
27 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.57 BBS2 BBS4
28 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.55 BBS2 BBS4
29 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.54 MKS1 NPHP3
30 non-motile cilium assembly GO:1905515 9.5 BBS1 BBS10 BBS2 BBS4 CC2D2A MKS1
31 cilium assembly GO:0060271 9.36 BBS1 BBS2 BBS4 BBS5 BBS9 CC2D2A
32 protein transport GO:0015031 10.03 BBS1 BBS2 BBS4 BBS5 BBS9 CEP290

Molecular functions related to Bardet-Biedl Syndrome 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.86 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
2 neuropeptide hormone activity GO:0005184 9.16 CCK GRP
3 RNA polymerase II repressing transcription factor binding GO:0001103 9.02 BBS1 BBS10 BBS2 BBS4 BBS5

Sources for Bardet-Biedl Syndrome 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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