BBS21
MCID: BRD050
MIFTS: 26

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 57 75 29 6
Bbs21 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
bardet-biedl syndrome 21:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 21

UniProtKB/Swiss-Prot : 75 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 bardet-biedl syndrome 2 and bardet-biedl syndrome 10. An important gene associated with Bardet-Biedl Syndrome 21 is C8orf37 (Chromosome 8 Open Reading Frame 37). Affiliated tissues include heart, kidney and eye, and related phenotypes are obesity and delayed speech and language development

OMIM : 57 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Bardet-Biedl Syndrome 21:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 delayed speech and language development 32 HP:0000750
3 blindness 32 HP:0000618
4 horseshoe kidney 32 HP:0000085
5 myopia 32 HP:0000545
6 retinal thinning 32 HP:0030329
7 hypodontia 32 HP:0000668
8 rod-cone dystrophy 32 HP:0000510
9 constriction of peripheral visual field 32 HP:0001133
10 postaxial hand polydactyly 32 HP:0001162
11 hypoplasia of the fovea 32 HP:0007750
12 cone/cone-rod dystrophy 32 HP:0000548
13 retinal atrophy 32 HP:0001105
14 elevated hepatic transaminase 32 HP:0002910
15 reduced amplitude of dark-adapted bright flash electroretinogram a-wave 32 HP:0030483
16 hyperautofluorescent macular lesion 32 HP:0030631

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 29 C8orf37

Anatomical Context for Bardet-Biedl Syndrome 21

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

41
Heart, Kidney, Eye, Uterus

Publications for Bardet-Biedl Syndrome 21

Variations for Bardet-Biedl Syndrome 21

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

75
# 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 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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