BBS19
MCID: BRD045
MIFTS: 36

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 75 29 6 15 73
Bbs19 57 12 75
Bardet-Biedl Syndrome, Type 19 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
bardet-biedl syndrome 19:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 19

UniProtKB/Swiss-Prot : 75 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 bardet-biedl syndrome 1 and bardet-biedl syndrome 6, 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 : 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)

Related Diseases for Bardet-Biedl Syndrome 19

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Bardet-Biedl Syndrome 19:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 intellectual disability 32 HP:0001249
3 renal insufficiency 32 HP:0000083
4 hypogonadism 32 HP:0000135
5 rod-cone dystrophy 32 HP:0000510
6 hyposmia 32 HP:0004409
7 external genital hypoplasia 32 HP:0003241
8 polydactyly 32 HP:0010442

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 cellular MP:0005384 9.72 ARRB2 BBS10 BBS2 IFT27 STK11
2 growth/size/body region MP:0005378 9.65 ARRB2 BBS10 BBS2 IFT27 STK11
3 integument MP:0010771 9.46 ARRB2 BBS2 IFT27 STK11
4 nervous system MP:0003631 9.35 ARRB2 BBS10 BBS2 IFT27 STK11
5 vision/eye MP:0005391 8.92 BBS10 BBS2 IFT27 STK11

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:

41
Heart, Eye

Publications for Bardet-Biedl Syndrome 19

Variations for Bardet-Biedl Syndrome 19

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

75
# Symbol AA change Variation ID SNP ID
1 IFT27 p.Cys100Tyr VAR_071804 rs587777546

ClinVar genetic disease variations for Bardet-Biedl Syndrome 19:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT27 NM_001177701.2(IFT27): c.299G> A (p.Cys100Tyr) single nucleotide variant Pathogenic rs587777546 GRCh37 Chromosome 22, 37160016: 37160016
2 IFT27 NM_001177701.2(IFT27): c.299G> A (p.Cys100Tyr) single nucleotide variant Pathogenic rs587777546 GRCh38 Chromosome 22, 36763972: 36763972

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
11.53 BBS10 BBS2 IFT27
2
Show member pathways
10.99 BBS10 BBS2

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 motile cilium GO:0031514 8.96 BBS2 IFT27
2 cilium GO:0005929 8.8 BBS10 BBS2 IFT27

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 9.33 ARRB2 BBS2 IFT27
2 non-motile cilium assembly GO:1905515 8.96 BBS10 BBS2
3 photoreceptor cell maintenance GO:0045494 8.62 BBS10 BBS2

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 8.62 BBS10 BBS2

Sources for Bardet-Biedl Syndrome 19

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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