BBS21
MCID: BRD050
MIFTS: 27

Bardet-Biedl Syndrome 21 (BBS21)

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 21

MalaCards integrated aliases for Bardet-Biedl Syndrome 21:

Name: Bardet-Biedl Syndrome 21 58 76 30 6
Bbs21 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 unrelated children (last curated march 2017)


HPO:

33
bardet-biedl syndrome 21:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 21

UniProtKB/Swiss-Prot : 76 Bardet-Biedl syndrome 21: 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 21, also known as bbs21, is related to cone-rod dystrophy 16 and bardet-biedl syndrome 2. An important gene associated with Bardet-Biedl Syndrome 21 is C8orf37 (Chromosome 8 Open Reading Frame 37). Affiliated tissues include heart, kidney and uterus, and related phenotypes are obesity and delayed speech and language development

OMIM : 58 BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment (Heon et al., 2016; Khan et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (617406)

Related Diseases for Bardet-Biedl Syndrome 21

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 21:



Diseases related to Bardet-Biedl Syndrome 21

Symptoms & Phenotypes for Bardet-Biedl Syndrome 21

Human phenotypes related to Bardet-Biedl Syndrome 21:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 obesity 33 HP:0001513
2 delayed speech and language development 33 HP:0000750
3 blindness 33 HP:0000618
4 elevated hepatic transaminase 33 HP:0002910
5 horseshoe kidney 33 HP:0000085
6 myopia 33 HP:0000545
7 retinal thinning 33 HP:0030329
8 hypodontia 33 HP:0000668
9 rod-cone dystrophy 33 HP:0000510
10 constriction of peripheral visual field 33 HP:0001133
11 postaxial hand polydactyly 33 HP:0001162
12 hypoplasia of the fovea 33 HP:0007750
13 cone/cone-rod dystrophy 33 HP:0000548
14 retinal atrophy 33 HP:0001105
15 reduced amplitude of dark-adapted bright flash electroretinogram a-wave 33 HP:0030483
16 hyperautofluorescent macular lesion 33 HP:0030631

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Kidneys:
horseshoe kidney

Head And Neck Teeth:
hypodontia
dental anomalies

Skeletal Feet:
postaxial polydactyly

Growth Weight:
overweight or obese

Head And Neck Eyes:
myopia
cone-rod retinal dystrophy
rod-cone retinal dystrophy

Skeletal Hands:
postaxial polydactyly

Neurologic Central Nervous System:
speech delay
mild learning difficulties

Genitourinary Internal Genitalia Female:
abnormally positioned uterus

Clinical features from OMIM:

617406

Drugs & Therapeutics for Bardet-Biedl Syndrome 21

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 21

Genetic Tests for Bardet-Biedl Syndrome 21

Genetic tests related to Bardet-Biedl Syndrome 21:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 21 30 C8orf37

Anatomical Context for Bardet-Biedl Syndrome 21

MalaCards organs/tissues related to Bardet-Biedl Syndrome 21:

42
Heart, Kidney, Uterus, Eye

Publications for Bardet-Biedl Syndrome 21

Articles related to Bardet-Biedl Syndrome 21:

# Title Authors Year
1
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). ( 27008867 )
2016
2
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. ( 26854863 )
2016
3
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. ( 22177090 )
2012

Variations for Bardet-Biedl Syndrome 21

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 21:

76
# Symbol AA change Variation ID SNP ID
1 C8orf37 p.Arg177Trp VAR_067305 rs387907136

ClinVar genetic disease variations for Bardet-Biedl Syndrome 21:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C8orf37 NM_177965.3(C8orf37): c.529C> T (p.Arg177Trp) single nucleotide variant Pathogenic rs387907136 GRCh37 Chromosome 8, 96259940: 96259940
2 C8orf37 NM_177965.3(C8orf37): c.529C> T (p.Arg177Trp) single nucleotide variant Pathogenic rs387907136 GRCh38 Chromosome 8, 95247712: 95247712
3 C8orf37 NM_177965.3(C8orf37): c.304A> T (p.Lys102Ter) single nucleotide variant Pathogenic rs766087213 GRCh38 Chromosome 8, 95260472: 95260472
4 C8orf37 NM_177965.3(C8orf37): c.304A> T (p.Lys102Ter) single nucleotide variant Pathogenic rs766087213 GRCh37 Chromosome 8, 96272700: 96272700
5 C8orf37 NM_177965.3(C8orf37): c.533C> T (p.Ala178Val) single nucleotide variant Uncertain significance rs375314973 GRCh38 Chromosome 8, 95247708: 95247708
6 C8orf37 NM_177965.3(C8orf37): c.533C> T (p.Ala178Val) single nucleotide variant Uncertain significance rs375314973 GRCh37 Chromosome 8, 96259936: 96259936

Expression for Bardet-Biedl Syndrome 21

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 21.

Pathways for Bardet-Biedl Syndrome 21

GO Terms for Bardet-Biedl Syndrome 21

Sources for Bardet-Biedl Syndrome 21

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
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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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