BBS20
MCID: BRD051
MIFTS: 32

Bardet-Biedl Syndrome 20 (BBS20)

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 20

MalaCards integrated aliases for Bardet-Biedl Syndrome 20:

Name: Bardet-Biedl Syndrome 20 57 72 29 6
Bbs20 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one patient has been reported (last curated september 2016)


HPO:

31
bardet-biedl syndrome 20:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617119
OMIM Phenotypic Series 57 PS209900
MeSH 44 D020788

Summaries for Bardet-Biedl Syndrome 20

UniProtKB/Swiss-Prot : 72 Bardet-Biedl syndrome 20: A form of Bardet-Biedl syndrome, 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 20, also known as bbs20, is related to polydactyly and bardet-biedl syndrome. An important gene associated with Bardet-Biedl Syndrome 20 is IFT74 (Intraflagellar Transport 74), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Intraflagellar transport. Affiliated tissues include eye, kidney and liver, and related phenotypes are intellectual disability and microcephaly

OMIM® : 57 BBS20 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (617119) (Updated 20-May-2021)

Related Diseases for Bardet-Biedl Syndrome 20

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



Diseases related to Bardet-Biedl Syndrome 20

Symptoms & Phenotypes for Bardet-Biedl Syndrome 20

Human phenotypes related to Bardet-Biedl Syndrome 20:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 microcephaly 31 HP:0000252
3 obesity 31 HP:0001513
4 rod-cone dystrophy 31 HP:0000510
5 hypogonadism 31 HP:0000135
6 polydactyly 31 HP:0010442

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability

Growth Weight:
obesity

Skeletal Hands:
polydactyly

Head And Neck Head:
microcephaly

Genitourinary External Genitalia Male:
hypogonadism

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM®:

617119 (Updated 20-May-2021)

Drugs & Therapeutics for Bardet-Biedl Syndrome 20

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 20

Genetic Tests for Bardet-Biedl Syndrome 20

Genetic tests related to Bardet-Biedl Syndrome 20:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 20 29 IFT74

Anatomical Context for Bardet-Biedl Syndrome 20

MalaCards organs/tissues related to Bardet-Biedl Syndrome 20:

40
Eye, Kidney, Liver

Publications for Bardet-Biedl Syndrome 20

Articles related to Bardet-Biedl Syndrome 20:

# Title Authors PMID Year
1
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 6 57
27486776 2016
2
Bardet-Biedl syndrome and related disorders in Japan. 61
32451492 2020
3
Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. 61
27853007 2016
4
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. 61
26763875 2016
5
Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. 61
3359670 1988

Variations for Bardet-Biedl Syndrome 20

ClinVar genetic disease variations for Bardet-Biedl Syndrome 20:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IFT74 GRCh38/hg38 9p21.2(chr9:27040565-27060992) copy number loss Pathogenic 431748 GRCh37: 9:27040563-27060990
GRCh38: 9:27040565-27060992
2 IFT172 NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg) SNV Pathogenic 849763 GRCh37: 2:27695163-27695163
GRCh38: 2:27472296-27472296
3 IFT172 NM_015662.3(IFT172):c.2155C>T (p.His719Tyr) SNV Pathogenic 869114 rs144645349 GRCh37: 2:27684664-27684664
GRCh38: 2:27461797-27461797
4 IFT74 , LRRC19 NM_025103.4(IFT74):c.588-9407C>G SNV Pathogenic 1032902 GRCh37: 9:26999611-26999611
GRCh38: 9:26999613-26999613
5 IFT74 NM_025103.4(IFT74):c.1685-1G>T SNV Likely pathogenic 254276 rs200699377 GRCh37: 9:27062615-27062615
GRCh38: 9:27062617-27062617
6 IFT74 NM_025103.4(IFT74):c.94T>C (p.Ser32Pro) SNV Uncertain significance 1028870 GRCh37: 9:26962059-26962059
GRCh38: 9:26962061-26962061
7 IFT74 NM_025103.4(IFT74):c.163A>T (p.Ile55Leu) SNV not provided 684551 rs62542664 GRCh37: 9:26978168-26978168
GRCh38: 9:26978170-26978170

Expression for Bardet-Biedl Syndrome 20

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 20.

Pathways for Bardet-Biedl Syndrome 20

Pathways related to Bardet-Biedl Syndrome 20 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.68 IFT74 IFT172
2 10.24 IFT74 IFT172

GO Terms for Bardet-Biedl Syndrome 20

Cellular components related to Bardet-Biedl Syndrome 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.16 IFT74 IFT172
2 ciliary tip GO:0097542 8.96 IFT74 IFT172
3 intraciliary transport particle B GO:0030992 8.62 IFT74 IFT172

Biological processes related to Bardet-Biedl Syndrome 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.46 IFT74 IFT172
2 cilium assembly GO:0060271 9.43 IFT74 IFT172
3 Notch signaling pathway GO:0007219 9.4 IFT74 IFT172
4 epidermis development GO:0008544 9.37 IFT74 IFT172
5 determination of left/right symmetry GO:0007368 9.32 IFT74 IFT172
6 negative regulation of epithelial cell proliferation GO:0050680 9.26 IFT74 IFT172
7 non-motile cilium assembly GO:1905515 9.16 IFT74 IFT172
8 intraciliary transport involved in cilium assembly GO:0035735 8.96 IFT74 IFT172
9 intraciliary transport GO:0042073 8.62 IFT74 IFT172

Sources for Bardet-Biedl Syndrome 20

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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