BBS19
MCID: BRD045
MIFTS: 38

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 56 12 73 29 6 15 71
Bbs19 56 12 73
Bardet-Biedl Syndrome, Type 19 39

Characteristics:

OMIM:

56
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 56 615996
OMIM Phenotypic Series 56 PS209900
MeSH 43 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 polydactyly and retinitis pigmentosa, 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. 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 IFT27 gene on chromosome 22q12.

OMIM : 56 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)

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 37)
# Related Disease Score Top Affiliating Genes
1 polydactyly 28.4 TTC8 LZTFL1 BBS7 BBS12 BBS10
2 retinitis pigmentosa 26.1 WDPCP TTC8 LZTFL1 IFT27 BBS9 BBS7
3 bardet-biedl syndrome 25.4 WDPCP TTC8 LZTFL1 LOC105373021 IFT27 IFT22
4 polydactyly, postaxial, type a1 10.1
5 atrioventricular septal defect 10.1
6 neuroretinitis 10.1
7 heart septal defect 10.1
8 hypogonadism 10.1
9 retinitis 10.1
10 hypogonadotropism 10.1
11 ciliopathy 10.1
12 obsolete: postaxial polydactyly of fingers 10.1 BBS10 BBIP1
13 mckusick-kaufman syndrome 9.8 BBS7 BBS12
14 bardet-biedl syndrome 12 9.8 WDPCP BBS12
15 alstrom syndrome 9.7 BBS7 BBS5 BBS10
16 cranioectodermal dysplasia 1 9.7 IFT27 IFT22 BBS9
17 borjeson-forssman-lehmann syndrome 9.7 BBS12 BBS10
18 bardet-biedl syndrome 10 9.7 BBS7 BBS12 BBS10
19 nephronophthisis 9.4 IFT27 BBS7 BBS5
20 short-rib thoracic dysplasia 3 with or without polydactyly 9.3 WDPCP IFT27 IFT22 BBS10 BBIP1
21 night blindness, congenital stationary, autosomal dominant 3 9.2 BBS9 BBS5 BBS12 BBS10
22 retinal disease 8.7 TTC8 BBS9 BBS7 BBS5 BBS10
23 leber congenital amaurosis 8.7 TTC8 BBS5 BBS12 BBS10
24 bardet-biedl syndrome 1 8.6 WDPCP LZTFL1 BBS9 BBS7 BBS12 BBS10
25 meckel syndrome, type 1 8.4 WDPCP IFT27 BBS9 BBS7 BBS5 BBS12
26 fundus dystrophy 8.3 TTC8 BBS9 BBS7 BBS5 BBS12 BBS10
27 bardet-biedl syndrome 13 7.8 WDPCP TTC8 BBS9 BBS7 BBS5 BBS12
28 bardet-biedl syndrome 18 7.5 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
29 bardet-biedl syndrome 17 7.5 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
30 bardet-biedl syndrome 16 7.5 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
31 bardet-biedl syndrome 15 7.5 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
32 bardet-biedl syndrome 11 7.5 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
33 joubert syndrome 1 7.5 WDPCP TTC8 IFT27 IFT22 BBS9 BBS7
34 bardet-biedl syndrome 14 7.3 WDPCP TTC8 LZTFL1 IFT27 BBS9 BBS7
35 bardet-biedl syndrome 8 7.3 WDPCP TTC8 LZTFL1 IFT27 BBS9 BBS7
36 bardet-biedl syndrome 6 7.3 WDPCP TTC8 LZTFL1 IFT27 BBS9 BBS7
37 bardet-biedl syndrome 3 7.3 WDPCP TTC8 LZTFL1 IFT27 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 obesity 31 HP:0001513
2 intellectual disability 31 HP:0001249
3 rod-cone dystrophy 31 HP:0000510
4 renal insufficiency 31 HP:0000083
5 hypogonadism 31 HP:0000135
6 external genital hypoplasia 31 HP:0003241
7 hyposmia 31 HP:0004409
8 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism
hypogenitalism

Skeletal Hands:
polydactyly

Genitourinary Kidneys:
renal failure

Neurologic Central Nervous System:
intellectual disability

Head And Neck Nose:
hyposmia

Skeletal Feet:
polydactyly

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM:

615996

UMLS symptoms related to Bardet-Biedl Syndrome 19:


hyposmia

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 19:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.02 BBIP1 BBS10 BBS12 BBS5 BBS7 BBS9
2 nervous system MP:0003631 9.81 BBIP1 BBS10 BBS12 BBS5 BBS7 IFT27
3 adipose tissue MP:0005375 9.77 BBS10 BBS12 BBS5 BBS9 LZTFL1
4 limbs/digits/tail MP:0005371 9.65 BBS5 BBS7 BBS9 IFT27 WDPCP
5 renal/urinary system MP:0005367 9.35 BBS10 BBS12 BBS7 TTC8 WDPCP
6 vision/eye MP:0005391 9.28 BBIP1 BBS10 BBS12 BBS5 BBS7 IFT27

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

MalaCards organs/tissues related to Bardet-Biedl Syndrome 19:

40
Heart, Eye

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 56 6
24488770 2014
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
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. 61
30761183 2019
5
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

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 TTC8 LZTFL1 IFT27 IFT22 BBS9 BBS7
2
Show member pathways
11.25 TTC8 LZTFL1 BBS9 BBS7 BBS5 BBS12
3 10.77 IFT27 IFT22

GO Terms for Bardet-Biedl Syndrome 19

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.89 WDPCP TTC8 BBS9 BBS7 BBS5
2 cell projection GO:0042995 9.85 WDPCP TTC8 IFT27 IFT22 BBS9 BBS7
3 centrosome GO:0005813 9.76 TTC8 IFT27 IFT22 BBS7
4 microtubule organizing center GO:0005815 9.71 TTC8 BBS9 BBS7 BBS5
5 ciliary membrane GO:0060170 9.56 TTC8 BBS9 BBS7 BBS5
6 ciliary basal body GO:0036064 9.54 TTC8 BBS7 BBS5
7 axoneme GO:0005930 9.5 WDPCP BBS7 BBS5
8 ciliary tip GO:0097542 9.48 IFT27 IFT22
9 intraciliary transport particle B GO:0030992 9.43 IFT27 IFT22
10 BBSome GO:0034464 9.35 TTC8 BBS9 BBS7 BBS5 BBIP1
11 cilium GO:0005929 9.32 WDPCP TTC8 IFT27 IFT22 BBS9 BBS7

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.83 BBS9 BBS7 BBS5 BBS10
2 protein transport GO:0015031 9.63 TTC8 IFT27 BBS9 BBS7 BBS5 BBIP1
3 visual perception GO:0007601 9.62 BBS9 BBS7 BBS5 BBS10
4 fat cell differentiation GO:0045444 9.58 TTC8 BBS9 BBS7
5 heart looping GO:0001947 9.57 BBS7 BBS5
6 regulation of protein localization GO:0032880 9.56 WDPCP TTC8
7 intraciliary transport involved in cilium assembly GO:0035735 9.55 IFT27 IFT22
8 photoreceptor cell maintenance GO:0045494 9.54 BBS12 BBS10
9 smoothened signaling pathway GO:0007224 9.54 WDPCP IFT27 BBS7
10 intracellular transport GO:0046907 9.51 BBS7 BBS5
11 intraciliary transport GO:0042073 9.49 IFT27 BBS12
12 inner ear receptor cell stereocilium organization GO:0060122 9.48 TTC8 IFT27
13 melanosome transport GO:0032402 9.46 BBS7 BBS5
14 chaperone-mediated protein complex assembly GO:0051131 9.43 BBS12 BBS10
15 non-motile cilium assembly GO:1905515 9.43 TTC8 BBS7 BBS10
16 cilium assembly GO:0060271 9.43 WDPCP TTC8 BBS9 BBS7 BBS5 BBIP1
17 cell projection organization GO:0030030 9.1 WDPCP TTC8 BBS9 BBS7 BBS5 BBIP1

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 8.92 TTC8 BBS7 BBS5 BBS10

Sources for Bardet-Biedl Syndrome 19

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