BBS21
MCID: BRD050
MIFTS: 28

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 72 29 6
Bbs21 57 72
Syndrome, Bardet-Biedl, Type 21 39

Characteristics:

OMIM®:

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

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


HPO:

31
bardet-biedl syndrome 21:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 21

UniProtKB/Swiss-Prot : 72 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 and cone-rod dystrophy 16. An important gene associated with Bardet-Biedl Syndrome 21 is C8orf37 (Chromosome 8 Open Reading Frame 37). Affiliated tissues include eye, kidney and uterus, and related phenotypes are delayed speech and language development and blindness

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) (Updated 20-May-2021)

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:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 HP:0000750
2 blindness 31 HP:0000618
3 obesity 31 HP:0001513
4 elevated hepatic transaminase 31 HP:0002910
5 horseshoe kidney 31 HP:0000085
6 myopia 31 HP:0000545
7 hypodontia 31 HP:0000668
8 rod-cone dystrophy 31 HP:0000510
9 postaxial hand polydactyly 31 HP:0001162
10 hypoplasia of the fovea 31 HP:0007750
11 constriction of peripheral visual field 31 HP:0001133
12 cone/cone-rod dystrophy 31 HP:0000548
13 retinal thinning 31 HP:0030329
14 overweight 31 HP:0025502
15 retinal atrophy 31 HP:0001105
16 hyperautofluorescent macular lesion 31 HP:0030631
17 reduced amplitude of dark-adapted bright flash electroretinogram a-wave 31 HP:0030483

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Eye, Kidney, Uterus

Publications for Bardet-Biedl Syndrome 21

Articles related to Bardet-Biedl Syndrome 21:

# Title Authors PMID Year
1
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). 6 57 61
27008867 2016
2
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. 57 6
26854863 2016
3
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. 6
22177090 2012
4
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. 61
29127258 2018

Variations for Bardet-Biedl Syndrome 21

ClinVar genetic disease variations for Bardet-Biedl Syndrome 21:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C8orf37 NM_177965.4(C8orf37):c.304A>T (p.Lys102Ter) SNV Pathogenic 417789 rs766087213 GRCh37: 8:96272700-96272700
GRCh38: 8:95260472-95260472
2 C8orf37 NM_177965.4(C8orf37):c.529C>T (p.Arg177Trp) SNV Pathogenic 31194 rs387907136 GRCh37: 8:96259940-96259940
GRCh38: 8:95247712-95247712
3 C8orf37 NM_177965.4(C8orf37):c.240del (p.Ser81fs) Deletion Likely pathogenic 684431 rs1587357327 GRCh37: 8:96275918-96275918
GRCh38: 8:95263690-95263690
4 C8orf37-AS1 , C8orf37 NM_177965.4(C8orf37):c.130C>T (p.Gln44Ter) SNV Likely pathogenic 684432 rs751922029 GRCh37: 8:96281288-96281288
GRCh38: 8:95269060-95269060
5 C8orf37 NM_177965.4(C8orf37):c.533C>T (p.Ala178Val) SNV Uncertain significance 430653 rs375314973 GRCh37: 8:96259936-96259936
GRCh38: 8:95247708-95247708

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

72
# Symbol AA change Variation ID SNP ID
1 C8orf37 p.Arg177Trp VAR_067305 rs387907136

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
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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