BBS19
MCID: BRD045
MIFTS: 42

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 72 29 6 15 70
Bbs19 57 12 72
Bardet-Biedl Syndrome, Type 19 39

Characteristics:

OMIM®:

57 (Updated 20-May-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 70 C3889475

Summaries for Bardet-Biedl Syndrome 19

UniProtKB/Swiss-Prot : 72 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 bardet-biedl syndrome 1, 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 eye, kidney and liver, and 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 20-May-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 top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 polydactyly 27.4 TTC8 MKS1 LZTFL1 BBS7 BBS5 BBS4
2 bardet-biedl syndrome 1 26.6 WDPCP TTC8 MKS1 LZTFL1 LOC105373021 IFT27
3 retinitis pigmentosa 25.9 WDPCP TTC8 MKS1 LZTFL1 IFT27 IFT22
4 bardet-biedl syndrome 25.4 WDPCP TTC8 MKS1 LZTFL1 LOC105373021 IFT27
5 bardet-biedl syndrome 12 10.2 WDPCP BBS12
6 polydactyly, postaxial, type a1 10.1 BBS12 BBS10 BBIP1
7 borjeson-forssman-lehmann syndrome 10.0 BBS12 BBS10
8 bardet-biedl syndrome 10 10.0 BBS12 BBS10 BBS1
9 retinitis pigmentosa 55 10.0 TTC8 C8orf37
10 retinitis pigmentosa 51 10.0 TTC8 C8orf37
11 retinitis pigmentosa 31 10.0 TTC8 C8orf37
12 pigmented paravenous chorioretinal atrophy 10.0 TTC8 C8orf37
13 bardet-biedl syndrome 9 10.0 TTC8 BBS9
14 retinitis pigmentosa 54 10.0 TTC8 C8orf37
15 night blindness, congenital stationary, autosomal dominant 3 10.0 BBS9 BBS5 BBS12 BBS10
16 nonsyndromic retinitis pigmentosa 9.9 TTC8 BBS2 BBS1
17 retinitis pigmentosa 74 9.9 TTC8 C8orf37 BBS2
18 retinitis pigmentosa 62 9.9 TTC8 C8orf37 BBS2
19 atrioventricular septal defect 9.9
20 neuroretinitis 9.9
21 heart septal defect 9.9
22 hypogonadism 9.9
23 retinitis 9.9
24 ciliopathy 9.9
25 usher syndrome type 2 9.9 BBS9 BBS5 BBS10 BBS1
26 short-rib thoracic dysplasia 12 9.9 IFT27 IFT22 HSPB11
27 short-rib thoracic dysplasia 6 with or without polydactyly 9.8 IFT22 HSPB11 BBS10
28 short-rib thoracic dysplasia 3 with or without polydactyly 9.7 IFT27 IFT22 HSPB11 BBS10
29 tetralogy of fallot 9.7 BBS7 BBS4 BBS2 BBS1
30 cohen syndrome 9.6 MKS1 BBS10 BBS1
31 cone dystrophy 9.6 BBS7 BBS5 BBS2 BBS10 BBS1 BBIP1
32 usher syndrome 9.6 TTC8 BBS2 BBS12 BBS10 BBS1
33 retinal degeneration 9.6 BBS7 BBS4 BBS10 BBS1
34 nephronophthisis 2 9.6 MKS1 BBS4 BBS1
35 polycystic kidney disease 4 with or without polycystic liver disease 9.5 MKS1 BBS4 BBS1
36 cranioectodermal dysplasia 9.4 MKS1 IFT27 IFT22 BBS9 BBS1
37 polycystic kidney disease 1 with or without polycystic liver disease 9.3 MKS1 BBS4 BBS1
38 physical disorder 9.3 MKS1 BBS7 BBS4 BBS2 BBS1
39 visceral heterotaxy 9.3 MKS1 BBS7 BBS4 BBS2 BBS1
40 alstrom syndrome 9.3 BBS9 BBS7 BBS5 BBS4 BBS2 BBS10
41 kartagener syndrome 9.2 MKS1 IFT27 IFT22 BBS4 BBS1
42 polycystic kidney disease 9.2 TTC8 MKS1 BBS5 BBS4 BBS1
43 body mass index quantitative trait locus 11 9.1 TTC8 BBS4 BBS2 BBS1 BBIP1
44 bardet-biedl syndrome 15 9.0 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
45 retinal disease 9.0 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
46 senior-loken syndrome 1 8.9 MKS1 C8orf37 BBS5 BBS4 BBS12 BBS10
47 mckusick-kaufman syndrome 8.9 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
48 joubert syndrome 1 8.8 MKS1 IFT27 HSPB11 C8orf37 BBS5 BBS4
49 primary ciliary dyskinesia 8.6 MKS1 IFT27 IFT22 HSPB11 BBS5 BBS4
50 cone-rod dystrophy 2 8.6 MKS1 C8orf37 BBS9 BBS7 BBS4 BBS2

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 20-May-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 20-May-2021)

UMLS symptoms related to Bardet-Biedl Syndrome 19:


hyposmia

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 19:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
2 nervous system MP:0003631 10.24 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
3 cellular MP:0005384 10.21 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
4 adipose tissue MP:0005375 10.18 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
5 craniofacial MP:0005382 10.15 BBS1 BBS2 BBS4 BBS7 HSPB11 IFT27
6 limbs/digits/tail MP:0005371 10.1 BBS1 BBS2 BBS5 BBS7 BBS9 C8orf37
7 embryo MP:0005380 10.06 BBS1 BBS10 BBS4 BBS7 HSPB11 IFT27
8 digestive/alimentary MP:0005381 10.02 BBS2 BBS4 BBS7 HSPB11 IFT27 MKS1
9 renal/urinary system MP:0005367 10.02 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
10 respiratory system MP:0005388 9.86 BBS1 BBS2 BBS4 HSPB11 IFT27 MKS1
11 skeleton MP:0005390 9.81 BBS12 BBS2 BBS4 BBS5 BBS9 C8orf37
12 vision/eye MP:0005391 9.47 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
13 taste/olfaction MP:0005394 9.35 BBS1 BBS2 BBS4 BBS7 TTC8

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
Eye, Kidney, Liver, Heart

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 Position
1 IFT27 , LOC105373021 NM_001177701.3(IFT27):c.391C>T (p.Arg131Ter) SNV Pathogenic 1032497 GRCh37: 22:37159019-37159019
GRCh38: 22:36762975-36762975
2 IFT27 , LOC105373021 NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr) SNV Pathogenic 140462 rs587777546 GRCh37: 22:37160016-37160016
GRCh38: 22:36763972-36763972
3 IFT27 NM_001177701.3(IFT27):c.116C>G (p.Thr39Arg) SNV Uncertain significance 992407 GRCh37: 22:37163408-37163408
GRCh38: 22:36767364-36767364

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

72
# 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

GO Terms for Bardet-Biedl Syndrome 19

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.35 WDPCP TTC8 MKS1 LZTFL1 IFT27 C8orf37
2 cytosol GO:0005829 10.31 TTC8 MKS1 LZTFL1 C8orf37 BBS9 BBS7
3 cytoskeleton GO:0005856 10.09 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
4 centrosome GO:0005813 10.01 TTC8 MKS1 IFT27 IFT22 HSPB11 BBS7
5 microtubule organizing center GO:0005815 9.97 TTC8 MKS1 BBS9 BBS7 BBS5 BBS4
6 ciliary basal body GO:0036064 9.87 TTC8 MKS1 BBS7 BBS5 BBS4 BBS2
7 cell projection GO:0042995 9.83 WDPCP TTC8 MKS1 IFT27 IFT22 HSPB11
8 ciliary membrane GO:0060170 9.8 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
9 axoneme GO:0005930 9.78 WDPCP BBS7 BBS5 BBS1
10 BBSome GO:0034464 9.76 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
11 motile cilium GO:0031514 9.73 IFT27 BBS4 BBS2
12 centriolar satellite GO:0034451 9.7 BBS9 BBS5 BBS4
13 ciliary tip GO:0097542 9.69 IFT27 IFT22 HSPB11
14 ciliary transition zone GO:0035869 9.67 MKS1 BBS9 BBS4
15 intraciliary transport particle B GO:0030992 9.63 IFT27 IFT22 HSPB11
16 non-motile cilium GO:0097730 9.58 TTC8 BBS4
17 pericentriolar material GO:0000242 9.55 BBS9 BBS4
18 cilium GO:0005929 9.5 WDPCP TTC8 MKS1 IFT27 IFT22 HSPB11

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 10 BBS9 BBS7 BBS5 BBS4 BBS2 BBS10
2 protein transport GO:0015031 9.96 TTC8 IFT27 HSPB11 BBS9 BBS7 BBS5
3 visual perception GO:0007601 9.87 BBS9 BBS7 BBS5 BBS4 BBS2 BBS10
4 fat cell differentiation GO:0045444 9.8 TTC8 BBS9 BBS7 BBS4 BBS2
5 kidney development GO:0001822 9.78 WDPCP IFT27 HSPB11
6 photoreceptor cell maintenance GO:0045494 9.77 BBS4 BBS2 BBS12 BBS10 BBS1
7 smoothened signaling pathway GO:0007224 9.76 WDPCP IFT27 BBS7
8 heart looping GO:0001947 9.75 BBS7 BBS5 BBS4
9 melanosome transport GO:0032402 9.73 BBS7 BBS5 BBS4 BBS2
10 intraciliary transport involved in cilium assembly GO:0035735 9.72 IFT27 IFT22 HSPB11
11 protein localization to cilium GO:0061512 9.7 BBS9 BBS4 BBS1
12 non-motile cilium assembly GO:1905515 9.7 TTC8 MKS1 BBS7 BBS4 BBS2 BBS10
13 intracellular transport GO:0046907 9.69 BBS7 BBS5 BBS4
14 intraciliary transport GO:0042073 9.67 IFT27 HSPB11 BBS12
15 inner ear receptor cell stereocilium organization GO:0060122 9.65 TTC8 MKS1 IFT27
16 cell projection organization GO:0030030 9.65 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
17 Golgi to plasma membrane protein transport GO:0043001 9.63 BBS2 BBS1
18 adult behavior GO:0030534 9.63 BBS4 BBS2
19 motile cilium assembly GO:0044458 9.62 MKS1 BBS5
20 brain morphogenesis GO:0048854 9.62 BBS4 BBS2
21 protein localization to organelle GO:0033365 9.61 BBS4 BBS2
22 chaperone-mediated protein complex assembly GO:0051131 9.6 BBS12 BBS10
23 striatum development GO:0021756 9.59 BBS4 BBS2
24 regulation of cilium beat frequency involved in ciliary motility GO:0060296 9.57 BBS4 BBS2
25 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.56 BBS4 BBS2
26 sensory processing GO:0050893 9.54 TTC8 BBS4
27 cilium assembly GO:0060271 9.36 WDPCP TTC8 MKS1 HSPB11 BBS9 BBS7

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 9.17 TTC8 BBS7 BBS5 BBS4 BBS2 BBS10

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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