BBS20
MCID: BRD051
MIFTS: 23

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 58 76 30 6
Bbs20 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
bardet-biedl syndrome 20:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 20

UniProtKB/Swiss-Prot : 76 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 bardet-biedl syndrome 2 and bardet-biedl syndrome 10. An important gene associated with Bardet-Biedl Syndrome 20 is IFT74 (Intraflagellar Transport 74). Affiliated tissues include heart, and related phenotypes are obesity and intellectual disability

OMIM : 58 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)

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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 obesity 33 HP:0001513
2 intellectual disability 33 HP:0001249
3 microcephaly 33 HP:0000252
4 hypogonadism 33 HP:0000135
5 rod-cone dystrophy 33 HP:0000510
6 polydactyly 33 HP:0010442

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Head And Neck Head:
microcephaly

Skeletal Hands:
polydactyly

Neurologic Central Nervous System:
intellectual disability

Genitourinary External Genitalia Male:
hypogonadism

Head And Neck Eyes:
retinitis pigmentosa

Clinical features from OMIM:

617119

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 30 IFT74

Anatomical Context for Bardet-Biedl Syndrome 20

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

42
Heart

Publications for Bardet-Biedl Syndrome 20

Variations for Bardet-Biedl Syndrome 20

ClinVar genetic disease variations for Bardet-Biedl Syndrome 20:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IFT74 NM_025103.3(IFT74): c.1685-1G> T single nucleotide variant Pathogenic rs200699377 GRCh37 Chromosome 9, 27062615: 27062615
2 IFT74 NM_025103.3(IFT74): c.1685-1G> T single nucleotide variant Pathogenic rs200699377 GRCh38 Chromosome 9, 27062617: 27062617
3 IFT74 GRCh38/hg38 9p21.2(chr9: 27040565-27060992) copy number loss Pathogenic/Likely pathogenic GRCh37 Chromosome 9, 27040563: 27060990
4 IFT74 GRCh38/hg38 9p21.2(chr9: 27040565-27060992) copy number loss Pathogenic/Likely pathogenic GRCh38 Chromosome 9, 27040565: 27060992

Expression for Bardet-Biedl Syndrome 20

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

Pathways for Bardet-Biedl Syndrome 20

GO Terms for Bardet-Biedl Syndrome 20

Sources for Bardet-Biedl Syndrome 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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