BBS20
MCID: BRD051
MIFTS: 24

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 75 29 6
Bbs20 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
bardet-biedl syndrome 20:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 20

UniProtKB/Swiss-Prot : 75 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 eye, and related phenotypes are obesity and intellectual disability

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)

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Bardet-Biedl Syndrome 20:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 intellectual disability 32 HP:0001249
3 microcephaly 32 HP:0000252
4 hypogonadism 32 HP:0000135
5 rod-cone dystrophy 32 HP:0000510
6 polydactyly 32 HP:0010442

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:

41
Heart, Eye

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 GRCh37/hg19 9p21.2(chr9: 27040563-27060990) copy number loss Pathogenic/Likely pathogenic GRCh37 Chromosome 9, 27040563: 27060990

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 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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