BBS14
MCID: BRD032
MIFTS: 39

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 57 12 75 29 6 15 73
Bbs14 57 12 75
Bardet-Biedl Syndrome 14, Modifier of 57 6
Bardet-Biedl Syndrome, Type 14 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
bardet-biedl syndrome 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615991
Disease Ontology 12 DOID:0110136
ICD10 33 Q87.89
MedGen 42 C2673874
MeSH 44 D020788
UMLS 73 C2673874

Summaries for Bardet-Biedl Syndrome 14

UniProtKB/Swiss-Prot : 75 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 6 and encephalocele. An important gene associated with Bardet-Biedl Syndrome 14 is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drug cysteine has been mentioned in the context of this disorder. Affiliated tissues include heart and eye, 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 : 57 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 27)
# Related Disease Score Top Affiliating Genes
1 joubert syndrome 6 10.1 CEP290 TMEM67
2 encephalocele 10.1 CEP290 TMEM67
3 meckel syndrome, type 3 10.1 CEP290 TMEM67
4 nephronophthisis 11 10.1 CEP290 TMEM67
5 nonsyndromic retinitis pigmentosa 10.0 BBS1 BBS2
6 bardet-biedl syndrome 15 10.0 BBS2 TMEM67
7 senior-loken syndrome 1 10.0 CEP290 TMEM67
8 bardet-biedl syndrome 18 10.0 BBS1 BBS2
9 bardet-biedl syndrome 4 10.0 BBS1 BBS2
10 alstrom syndrome 10.0 BBS1 BBS2
11 hydrolethalus syndrome 1 10.0 BBS2 TMEM67
12 pathologic nystagmus 10.0 CEP290 TMEM67
13 bardet-biedl syndrome 19 10.0 BBS10 BBS2
14 meckel syndrome, type 1 10.0 BBS1 CEP290 TMEM67
15 bardet-biedl syndrome 11 9.9 BBS12 BBS9
16 coloboma of macula 9.9 CEP290 TMEM67
17 mckusick-kaufman syndrome 9.9 BBS1 BBS12 BBS2
18 bardet-biedl syndrome 6 9.8 BBS1 BBS10 BBS2
19 bardet-biedl syndrome 8 9.8 BBS1 BBS10 BBS2
20 polydactyly 9.8 BBS1 BBS10 BBS2
21 bardet-biedl syndrome 3 9.7 BBS1 BBS2 BBS9
22 bardet-biedl syndrome 17 9.7 BBS1 BBS2 BBS9
23 bardet-biedl syndrome 1 9.5 BBS1 BBS10 BBS2 BBS9
24 fundus dystrophy 9.5 BBS1 BBS10 BBS12 BBS2 CEP290
25 retinitis pigmentosa 9.5 BBS1 BBS10 BBS12 BBS2 CEP290
26 bardet-biedl syndrome 13 9.3 BBS1 BBS10 BBS12 BBS2 CEP290 TMEM67
27 bardet-biedl syndrome 9.0 BBS1 BBS10 BBS12 BBS2 BBS9 CEP290

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Bardet-Biedl Syndrome 14:

32
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 intellectual disability 32 HP:0001249
3 global developmental delay 32 HP:0001263
4 rod-cone dystrophy 32 HP:0000510

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 14:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 BBS1 BBS10 BBS12 BBS2 BBS9 CEP290
2 adipose tissue MP:0005375 9.8 BBS1 BBS10 BBS12 BBS2 BBS9
3 nervous system MP:0003631 9.73 BBS1 BBS10 BBS12 BBS2 CEP290 TMEM67
4 renal/urinary system MP:0005367 9.63 BBS1 BBS10 BBS12 BBS2 CEP290 TMEM67
5 limbs/digits/tail MP:0005371 9.62 BBS1 BBS2 BBS9 TMEM67
6 taste/olfaction MP:0005394 9.13 BBS1 BBS2 CEP290
7 vision/eye MP:0005391 9.02 BBS1 BBS10 BBS12 BBS2 CEP290

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 Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome Completed NCT00873678
3 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 29 CEP290 TMEM67

Anatomical Context for Bardet-Biedl Syndrome 14

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

41
Heart, Eye

Publications for Bardet-Biedl Syndrome 14

Variations for Bardet-Biedl Syndrome 14

ClinVar genetic disease variations for Bardet-Biedl Syndrome 14:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
2 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh38 Chromosome 12, 88077263: 88077263
3 CEP290 NM_025114.3(CEP290): c.5704G> T (p.Glu1902Ter) single nucleotide variant Pathogenic rs267606719 GRCh37 Chromosome 12, 88471004: 88471004
4 CEP290 NM_025114.3(CEP290): c.5704G> T (p.Glu1902Ter) single nucleotide variant Pathogenic rs267606719 GRCh38 Chromosome 12, 88077227: 88077227
5 TMEM67 NM_153704.5(TMEM67): c.958A> T (p.Ser320Cys) single nucleotide variant risk factor rs111619594 GRCh37 Chromosome 8, 94793190: 94793190
6 TMEM67 NM_153704.5(TMEM67): c.958A> T (p.Ser320Cys) single nucleotide variant risk factor rs111619594 GRCh38 Chromosome 8, 93780962: 93780962
7 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh37 Chromosome 8, 94793953: 94793953
8 TMEM67 NM_153704.5(TMEM67): c.1046T> C (p.Leu349Ser) single nucleotide variant Pathogenic/Likely pathogenic rs386834180 GRCh38 Chromosome 8, 93781725: 93781725
9 TMEM67 NM_153704.5(TMEM67): c.2397T> C (p.Asp799=) single nucleotide variant Benign rs117195541 GRCh37 Chromosome 8, 94817064: 94817064
10 TMEM67 NM_153704.5(TMEM67): c.2397T> C (p.Asp799=) single nucleotide variant Benign rs117195541 GRCh38 Chromosome 8, 93804836: 93804836
11 CEP290 NM_025114.3(CEP290): c.6277delG (p.Val2093Serfs) deletion Pathogenic rs771454167 GRCh38 Chromosome 12, 88062772: 88062772
12 CEP290 NM_025114.3(CEP290): c.6277delG (p.Val2093Serfs) deletion Pathogenic rs771454167 GRCh37 Chromosome 12, 88456549: 88456549
13 CEP290 NM_025114.3(CEP290): c.1419_1423delAATAA (p.Ile474Argfs) deletion Pathogenic rs771266705 GRCh37 Chromosome 12, 88513990: 88513994
14 CEP290 NM_025114.3(CEP290): c.1419_1423delAATAA (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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.89 BBS1 BBS10 BBS12 BBS2 BBS9 CEP290
2
Show member pathways
11.38 BBS1 BBS10 BBS12 BBS2 BBS9

GO Terms for Bardet-Biedl Syndrome 14

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.85 BBS1 BBS2 BBS9 CEP290 TMEM67
2 centrosome GO:0005813 9.67 BBS1 CEP290 TMEM67
3 microtubule organizing center GO:0005815 9.67 BBS1 BBS2 BBS9 CEP290
4 ciliary basal body GO:0036064 9.58 BBS1 BBS2 CEP290
5 ciliary transition zone GO:0035869 9.5 BBS9 CEP290 TMEM67
6 cell projection GO:0042995 9.5 BBS1 BBS10 BBS12 BBS2 BBS9 CEP290
7 centriolar satellite GO:0034451 9.48 BBS9 CEP290
8 ciliary membrane GO:0060170 9.46 BBS1 BBS2 BBS9 TMEM67
9 MKS complex GO:0036038 9.43 CEP290 TMEM67
10 BBSome GO:0034464 9.43 BBS1 BBS2 BBS9
11 cilium GO:0005929 9.17 BBS1 BBS10 BBS12 BBS2 BBS9 CEP290

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.73 BBS1 BBS2 BBS9 CEP290
2 response to stimulus GO:0050896 9.67 BBS1 BBS10 BBS2 BBS9
3 visual perception GO:0007601 9.56 BBS1 BBS10 BBS2 BBS9
4 cilium assembly GO:0060271 9.55 BBS1 BBS2 BBS9 CEP290 TMEM67
5 ciliary basal body-plasma membrane docking GO:0097711 9.52 CEP290 TMEM67
6 fat cell differentiation GO:0045444 9.51 BBS2 BBS9
7 non-motile cilium assembly GO:1905515 9.5 BBS1 BBS10 BBS2
8 retina homeostasis GO:0001895 9.49 BBS1 BBS10
9 Golgi to plasma membrane protein transport GO:0043001 9.48 BBS1 BBS2
10 protein localization to cilium GO:0061512 9.46 BBS1 BBS9
11 chaperone-mediated protein complex assembly GO:0051131 9.4 BBS10 BBS12
12 cell projection organization GO:0030030 9.35 BBS1 BBS2 BBS9 CEP290 TMEM67
13 photoreceptor cell maintenance GO:0045494 8.92 BBS1 BBS10 BBS12 BBS2

Molecular functions related to Bardet-Biedl Syndrome 14 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 BBS1 BBS10 BBS2

Sources for Bardet-Biedl Syndrome 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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