BBS19
MCID: BRD045
MIFTS: 37

Bardet-Biedl Syndrome 19 (BBS19)

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 19

MalaCards integrated aliases for Bardet-Biedl Syndrome 19:

Name: Bardet-Biedl Syndrome 19 57 12 73 29 6 15 71
Bbs19 57 12 73
Bardet-Biedl Syndrome, Type 19 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous saudi family has been reported (last curated october 2014)


HPO:

31
bardet-biedl syndrome 19:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110141
OMIM® 57 615996
OMIM Phenotypic Series 57 PS209900
MeSH 44 D020788
ICD10 32 Q87.89
UMLS 71 C3889475

Summaries for Bardet-Biedl Syndrome 19

UniProtKB/Swiss-Prot : 73 Bardet-Biedl syndrome 19: 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 19, also known as bbs19, is related to ciliopathy and polydactyly, and has symptoms including hyposmia An important gene associated with Bardet-Biedl Syndrome 19 is IFT27 (Intraflagellar Transport 27), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Related phenotypes are intellectual disability and renal insufficiency

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the IFT27 gene on chromosome 22q12.

OMIM® : 57 BBS19 is an autosomal recessive ciliopathy characterized by obesity, intellectual disability, polydactyly, renal failure, retinitis pigmentosa, and hypogonadism (Aldahmesh et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615996) (Updated 05-Mar-2021)

Related Diseases for Bardet-Biedl Syndrome 19

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

(show all 45)
# Related Disease Score Top Affiliating Genes
1 ciliopathy 29.3 BBS7 BBS1
2 polydactyly 27.1 LZTFL1 IFT27 BBS9 BBS7 BBS5 BBS2
3 retinitis pigmentosa 26.4 WDPCP LZTFL1 IFT27 C8orf37 BBS9 BBS7
4 bardet-biedl syndrome 26.2 WDPCP LZTFL1 LOC105373021 IFT27 C8orf37 BBS9
5 bardet-biedl syndrome 12 10.0 WDPCP BBS12
6 borjeson-forssman-lehmann syndrome 9.9 BBS12 BBS10
7 atrioventricular septal defect 9.9
8 neuroretinitis 9.9
9 heart septal defect 9.9
10 hypogonadism 9.9
11 retinitis 9.9
12 retinitis pigmentosa 74 9.8 C8orf37 BBS2
13 polydactyly, postaxial, type a1 9.8 BBS12 BBS10 BBIP1
14 retinitis pigmentosa 62 9.8 C8orf37 BBS2
15 nonsyndromic retinitis pigmentosa 9.7 BBS2 BBS1
16 cranioectodermal dysplasia 9.7 IFT27 BBS9 BBS1
17 night blindness, congenital stationary, autosomal dominant 3 9.6 BBS9 BBS5 BBS12 BBS10
18 bardet-biedl syndrome 10 9.6 BBS12 BBS10 BBS1
19 visceral heterotaxy 9.4 IFT27 BBS7 BBS2 BBS1
20 usher syndrome type 2 9.4 BBS9 BBS5 BBS10 BBS1
21 joubert syndrome 1 9.3 IFT27 C8orf37 BBS5 BBS1
22 primary ciliary dyskinesia 9.2 IFT27 BBS5 BBS2 BBS1
23 tetralogy of fallot 9.2 BBS7 BBS2 BBS1
24 senior-loken syndrome 1 9.1 C8orf37 BBS5 BBS12 BBS10 BBS1
25 cone dystrophy 9.0 BBS7 BBS5 BBS2 BBS10 BBS1 BBIP1
26 alstrom syndrome 8.9 BBS9 BBS7 BBS5 BBS2 BBS10 BBS1
27 retinal disease 8.9 BBS9 BBS7 BBS5 BBS2 BBS10 BBS1
28 asphyxiating thoracic dystrophy 8.6 WDPCP LZTFL1 IFT27 BBS7 BBS5 BBS2
29 mckusick-kaufman syndrome 8.6 BBS9 BBS7 BBS5 BBS2 BBS12 BBS10
30 cone-rod dystrophy 2 8.5 C8orf37 BBS9 BBS7 BBS2 BBS12 BBS10
31 bardet-biedl syndrome 15 8.5 WDPCP LZTFL1 BBS9 BBS7 BBS5 BBS12
32 leber plus disease 8.3 C8orf37 BBS9 BBS7 BBS5 BBS2 BBS12
33 bardet-biedl syndrome 13 8.3 WDPCP BBS9 BBS7 BBS5 BBS2 BBS12
34 bardet-biedl syndrome 8 8.2 LZTFL1 IFT27 BBS9 BBS7 BBS5 BBS2
35 fundus dystrophy 8.2 IFT27 C8orf37 BBS9 BBS7 BBS5 BBS2
36 bardet-biedl syndrome 3 8.2 LZTFL1 IFT27 BBS9 BBS7 BBS5 BBS2
37 nephronophthisis 8.2 WDPCP IFT27 BBS9 BBS7 BBS5 BBS2
38 meckel syndrome, type 1 8.2 WDPCP IFT27 BBS9 BBS7 BBS5 BBS2
39 bardet-biedl syndrome 1 8.0 WDPCP LZTFL1 IFT27 BBS9 BBS7 BBS5
40 bardet-biedl syndrome 17 8.0 WDPCP LZTFL1 IFT27 BBS9 BBS7 BBS5
41 bardet-biedl syndrome 6 8.0 WDPCP LZTFL1 IFT27 BBS9 BBS7 BBS5
42 bardet-biedl syndrome 18 7.7 WDPCP LZTFL1 IFT27 C8orf37 BBS9 BBS7
43 bardet-biedl syndrome 16 7.7 WDPCP LZTFL1 IFT27 C8orf37 BBS9 BBS7
44 bardet-biedl syndrome 14 7.7 WDPCP LZTFL1 IFT27 C8orf37 BBS9 BBS7
45 bardet-biedl syndrome 11 7.7 WDPCP LZTFL1 IFT27 C8orf37 BBS9 BBS7

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 19:



Diseases related to Bardet-Biedl Syndrome 19

Symptoms & Phenotypes for Bardet-Biedl Syndrome 19

Human phenotypes related to Bardet-Biedl Syndrome 19:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 renal insufficiency 31 HP:0000083
3 obesity 31 HP:0001513
4 rod-cone dystrophy 31 HP:0000510
5 hyposmia 31 HP:0004409
6 hypogonadism 31 HP:0000135
7 polydactyly 31 HP:0010442
8 external genital hypoplasia 31 HP:0003241

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability

Head And Neck Nose:
hyposmia

Skeletal Hands:
polydactyly

Genitourinary Kidneys:
renal failure

Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism
hypogenitalism

Skeletal Feet:
polydactyly

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM®:

615996 (Updated 05-Mar-2021)

UMLS symptoms related to Bardet-Biedl Syndrome 19:


hyposmia

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 19:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS5
2 adipose tissue MP:0005375 10.01 BBS1 BBS10 BBS12 BBS2 BBS5 BBS9
3 nervous system MP:0003631 10 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS5
4 limbs/digits/tail MP:0005371 9.92 BBS1 BBS2 BBS5 BBS7 BBS9 C8orf37
5 renal/urinary system MP:0005367 9.7 BBS1 BBS10 BBS12 BBS2 BBS7 C8orf37
6 vision/eye MP:0005391 9.36 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS5
7 taste/olfaction MP:0005394 9.13 BBS1 BBS2 BBS7

Drugs & Therapeutics for Bardet-Biedl Syndrome 19

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 19

Genetic Tests for Bardet-Biedl Syndrome 19

Genetic tests related to Bardet-Biedl Syndrome 19:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 19 29 IFT27

Anatomical Context for Bardet-Biedl Syndrome 19

Publications for Bardet-Biedl Syndrome 19

Articles related to Bardet-Biedl Syndrome 19:

# Title Authors PMID Year
1
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. 61 6 57
24488770 2014
2
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. 61
30761183 2019
3
Proteomics of Primary Cilia by Proximity Labeling. 61
26585297 2015

Variations for Bardet-Biedl Syndrome 19

ClinVar genetic disease variations for Bardet-Biedl Syndrome 19:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFT27 NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr) SNV Pathogenic 140462 rs587777546 22:37160016-37160016 22:36763972-36763972
2 IFT27 NM_001177701.3(IFT27):c.116C>G (p.Thr39Arg) SNV Uncertain significance 992407 22:37163408-37163408 22:36767364-36767364

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 19:

73
# Symbol AA change Variation ID SNP ID
1 IFT27 p.Cys100Tyr VAR_071804 rs587777546

Expression for Bardet-Biedl Syndrome 19

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 19.

Pathways for Bardet-Biedl Syndrome 19

Pathways related to Bardet-Biedl Syndrome 19 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.38 LZTFL1 IFT27 BBS9 BBS7 BBS5 BBS2
2
Show member pathways
11.31 LZTFL1 BBS9 BBS7 BBS5 BBS2 BBS12

GO Terms for Bardet-Biedl Syndrome 19

Cellular components related to Bardet-Biedl Syndrome 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.16 WDPCP LZTFL1 IFT27 C8orf37 BBS9 BBS7
2 cytoskeleton GO:0005856 9.91 WDPCP BBS9 BBS7 BBS5 BBS2 BBS1
3 cell projection GO:0042995 9.85 WDPCP IFT27 BBS9 BBS7 BBS5 BBS2
4 microtubule organizing center GO:0005815 9.77 BBS9 BBS7 BBS5 BBS2 BBS1
5 ciliary basal body GO:0036064 9.71 BBS7 BBS5 BBS2 BBS1
6 ciliary membrane GO:0060170 9.65 BBS9 BBS7 BBS5 BBS2 BBS1
7 cilium GO:0005929 9.65 WDPCP IFT27 BBS9 BBS7 BBS5 BBS2
8 axoneme GO:0005930 9.62 WDPCP BBS7 BBS5 BBS1
9 BBSome GO:0034464 9.1 BBS9 BBS7 BBS5 BBS2 BBS1 BBIP1

Biological processes related to Bardet-Biedl Syndrome 19 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.91 BBS9 BBS7 BBS5 BBS2 BBS10 BBS1
2 protein transport GO:0015031 9.91 IFT27 BBS9 BBS7 BBS5 BBS2 BBS1
3 fat cell differentiation GO:0045444 9.65 BBS9 BBS7 BBS2
4 smoothened signaling pathway GO:0007224 9.63 WDPCP IFT27 BBS7
5 visual perception GO:0007601 9.63 BBS9 BBS7 BBS5 BBS2 BBS10 BBS1
6 non-motile cilium assembly GO:1905515 9.62 BBS7 BBS2 BBS10 BBS1
7 melanosome transport GO:0032402 9.58 BBS7 BBS5 BBS2
8 photoreceptor cell maintenance GO:0045494 9.56 BBS2 BBS12 BBS10 BBS1
9 protein localization to cilium GO:0061512 9.55 BBS9 BBS1
10 intracellular transport GO:0046907 9.54 BBS7 BBS5
11 Golgi to plasma membrane protein transport GO:0043001 9.52 BBS2 BBS1
12 intraciliary transport GO:0042073 9.51 IFT27 BBS12
13 cilium assembly GO:0060271 9.5 WDPCP BBS9 BBS7 BBS5 BBS2 BBS1
14 chaperone-mediated protein complex assembly GO:0051131 9.49 BBS12 BBS10
15 cell projection organization GO:0030030 9.17 WDPCP BBS9 BBS7 BBS5 BBS2 BBS1

Molecular functions related to Bardet-Biedl Syndrome 19 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 9.02 BBS7 BBS5 BBS2 BBS10 BBS1

Sources for Bardet-Biedl Syndrome 19

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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