BBS16
MCID: BRD047
MIFTS: 35

Bardet-Biedl Syndrome 16 (BBS16)

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 16

MalaCards integrated aliases for Bardet-Biedl Syndrome 16:

Name: Bardet-Biedl Syndrome 16 58 12 76 30 6 15 74
Bbs16 58 12 76
Bardet-Biedl Syndrome, Type 16 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
early-onset severe renal disease


HPO:

33
bardet-biedl syndrome 16:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 16

UniProtKB/Swiss-Prot : 76 Bardet-Biedl syndrome 16: 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 16, also known as bbs16, is related to bardet-biedl syndrome 1 and senior-loken syndrome 7, and has symptoms including respiratory distress An important gene associated with Bardet-Biedl Syndrome 16 is SDCCAG8 (Serologically Defined Colon Cancer Antigen 8), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include heart, kidney and eye, and related phenotypes are obesity and intellectual disability

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43.

OMIM : 58 BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615993)

Related Diseases for Bardet-Biedl Syndrome 16

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 16:



Diseases related to Bardet-Biedl Syndrome 16

Symptoms & Phenotypes for Bardet-Biedl Syndrome 16

Human phenotypes related to Bardet-Biedl Syndrome 16:

33 (showing 16, show less)
# Description HPO Frequency HPO Source Accession
1 obesity 33 HP:0001513
2 intellectual disability 33 HP:0001249
3 hearing impairment 33 HP:0000365
4 global developmental delay 33 HP:0001263
5 cognitive impairment 33 HP:0100543
6 renal insufficiency 33 HP:0000083
7 respiratory distress 33 HP:0002098
8 recurrent otitis media 33 HP:0000403
9 hypogonadism 33 HP:0000135
10 rod-cone dystrophy 33 HP:0000510
11 renal agenesis 33 HP:0000104
12 renal cyst 33 HP:0000107
13 renal dysplasia 33 HP:0000110
14 retinal degeneration 33 HP:0000546
15 external genital hypoplasia 33 HP:0003241
16 bronchiolitis 33 HP:0011950

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Respiratory:
respiratory distress
bronchiolitis
respiratory infections, recurrent, chronic

Genitourinary Kidneys:
renal agenesis
renal cysts
renal failure
dysplastic kidneys
renal anomalies
more
Skeletal Hands:
no polydactyly

Neurologic Central Nervous System:
cognitive impairment
developmental delay
mental retardation
learning disabilities

Genitourinary External Genitalia Male:
hypogonadism
hypogenitalism

Head And Neck Eyes:
retinal degeneration
retinitis pigmentosa

Head And Neck Ears:
otitis media, recurrent
hearing impairment, conductive

Clinical features from OMIM:

615993

UMLS symptoms related to Bardet-Biedl Syndrome 16:


respiratory distress

Drugs & Therapeutics for Bardet-Biedl Syndrome 16

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 16

Genetic Tests for Bardet-Biedl Syndrome 16

Genetic tests related to Bardet-Biedl Syndrome 16:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 16 30 SDCCAG8

Anatomical Context for Bardet-Biedl Syndrome 16

MalaCards organs/tissues related to Bardet-Biedl Syndrome 16:

42
Heart, Kidney, Eye

Publications for Bardet-Biedl Syndrome 16

Articles related to Bardet-Biedl Syndrome 16:

(showing 3, show less)
# Title Authors Year
1
Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. ( 22626039 )
2012
2
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. ( 22190896 )
2011
3
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. ( 20835237 )
2010

Variations for Bardet-Biedl Syndrome 16

ClinVar genetic disease variations for Bardet-Biedl Syndrome 16:

6 (showing 37, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDCCAG8 NM_006642.3(SDCCAG8): c.740+356C> T single nucleotide variant Pathogenic rs397515337 GRCh37 Chromosome 1, 243468435: 243468435
2 SDCCAG8 NM_006642.3(SDCCAG8): c.740+356C> T single nucleotide variant Pathogenic rs397515337 GRCh38 Chromosome 1, 243305133: 243305133
3 SDCCAG8 NM_006642.4(SDCCAG8): c.679A> T (p.Lys227Ter) single nucleotide variant Pathogenic rs267607031 GRCh37 Chromosome 1, 243468018: 243468018
4 SDCCAG8 NM_006642.4(SDCCAG8): c.679A> T (p.Lys227Ter) single nucleotide variant Pathogenic rs267607031 GRCh38 Chromosome 1, 243304716: 243304716
5 SDCCAG8 NM_006642.4(SDCCAG8): c.1627_1630del (p.Asp543Alafs) deletion Pathogenic rs587777846 GRCh38 Chromosome 1, 243415712: 243415715
6 SDCCAG8 NM_006642.4(SDCCAG8): c.1627_1630del (p.Asp543Alafs) deletion Pathogenic rs587777846 GRCh37 Chromosome 1, 243579014: 243579017
7 SDCCAG8 NM_006642.4(SDCCAG8): c.1444del (p.Thr482Leufs) deletion Pathogenic rs587777847 GRCh38 Chromosome 1, 243344302: 243344302
8 SDCCAG8 NM_006642.4(SDCCAG8): c.1444del (p.Thr482Leufs) deletion Pathogenic rs587777847 GRCh37 Chromosome 1, 243507604: 243507604
9 SDCCAG8 NM_006642.4(SDCCAG8): c.1409A> G (p.Glu470Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs118064970 GRCh37 Chromosome 1, 243507569: 243507569
10 SDCCAG8 NM_006642.4(SDCCAG8): c.1409A> G (p.Glu470Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs118064970 GRCh38 Chromosome 1, 243344267: 243344267
11 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> A (p.Arg365Lys) single nucleotide variant Likely benign rs115098969 GRCh37 Chromosome 1, 243493867: 243493867
12 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> A (p.Arg365Lys) single nucleotide variant Likely benign rs115098969 GRCh38 Chromosome 1, 243330565: 243330565
13 SDCCAG8 NM_006642.3(SDCCAG8): c.221-2A> G single nucleotide variant Pathogenic rs797045946 GRCh37 Chromosome 1, 243434278: 243434278
14 SDCCAG8 NM_006642.3(SDCCAG8): c.221-2A> G single nucleotide variant Pathogenic rs797045946 GRCh38 Chromosome 1, 243270976: 243270976
15 SDCCAG8 NM_006642.4(SDCCAG8): c.279G> A (p.Pro93=) single nucleotide variant Conflicting interpretations of pathogenicity rs145877279 GRCh38 Chromosome 1, 243271036: 243271036
16 SDCCAG8 NM_006642.4(SDCCAG8): c.279G> A (p.Pro93=) single nucleotide variant Conflicting interpretations of pathogenicity rs145877279 GRCh37 Chromosome 1, 243434338: 243434338
17 SDCCAG8 NM_006642.4(SDCCAG8): c.912C> T (p.Thr304=) single nucleotide variant Benign/Likely benign rs976529 GRCh38 Chromosome 1, 243308160: 243308160
18 SDCCAG8 NM_006642.4(SDCCAG8): c.912C> T (p.Thr304=) single nucleotide variant Benign/Likely benign rs976529 GRCh37 Chromosome 1, 243471462: 243471462
19 SDCCAG8 NM_006642.4(SDCCAG8): c.237T> A (p.Asp79Glu) single nucleotide variant Uncertain significance rs146474568 GRCh38 Chromosome 1, 243270994: 243270994
20 SDCCAG8 NM_006642.4(SDCCAG8): c.237T> A (p.Asp79Glu) single nucleotide variant Uncertain significance rs146474568 GRCh37 Chromosome 1, 243434296: 243434296
21 SDCCAG8 NM_006642.3(SDCCAG8): c.572C> T (p.Thr191Ile) single nucleotide variant Uncertain significance rs150070966 GRCh38 Chromosome 1, 243293116: 243293116
22 SDCCAG8 NM_006642.3(SDCCAG8): c.572C> T (p.Thr191Ile) single nucleotide variant Uncertain significance rs150070966 GRCh37 Chromosome 1, 243456418: 243456418
23 SDCCAG8 NM_006642.4(SDCCAG8): c.778C> G (p.Leu260Val) single nucleotide variant Uncertain significance rs201869920 GRCh38 Chromosome 1, 243308026: 243308026
24 SDCCAG8 NM_006642.4(SDCCAG8): c.778C> G (p.Leu260Val) single nucleotide variant Uncertain significance rs201869920 GRCh37 Chromosome 1, 243471328: 243471328
25 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> C (p.Arg365Thr) single nucleotide variant Benign/Likely benign rs115098969 GRCh37 Chromosome 1, 243493867: 243493867
26 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> C (p.Arg365Thr) single nucleotide variant Benign/Likely benign rs115098969 GRCh38 Chromosome 1, 243330565: 243330565
27 SDCCAG8 NM_006642.4(SDCCAG8): c.916G> A (p.Glu306Lys) single nucleotide variant Uncertain significance rs777002036 GRCh38 Chromosome 1, 243308164: 243308164
28 SDCCAG8 NM_006642.4(SDCCAG8): c.916G> A (p.Glu306Lys) single nucleotide variant Uncertain significance rs777002036 GRCh37 Chromosome 1, 243471466: 243471466
29 SDCCAG8 NM_006642.4(SDCCAG8): c.2067G> A (p.Leu689=) single nucleotide variant Benign rs191821211 GRCh38 Chromosome 1, 243489095: 243489095
30 SDCCAG8 NM_006642.4(SDCCAG8): c.2067G> A (p.Leu689=) single nucleotide variant Benign rs191821211 GRCh37 Chromosome 1, 243652397: 243652397
31 SDCCAG8 NM_006642.4(SDCCAG8): c.518T> C (p.Leu173Pro) single nucleotide variant Uncertain significance rs541533278 GRCh37 Chromosome 1, 243449671: 243449671
32 SDCCAG8 NM_006642.4(SDCCAG8): c.518T> C (p.Leu173Pro) single nucleotide variant Uncertain significance rs541533278 GRCh38 Chromosome 1, 243286369: 243286369
33 SDCCAG8 NM_006642.4(SDCCAG8): c.799A> T (p.Lys267Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 243471349: 243471349
34 SDCCAG8 NM_006642.4(SDCCAG8): c.799A> T (p.Lys267Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 243308047: 243308047
35 SDCCAG8 NM_006642.4(SDCCAG8): c.546+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 243286398: 243286398
36 SDCCAG8 NM_006642.4(SDCCAG8): c.546+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 243449700: 243449700
37 SDCCAG8 NM_006642.3: c.1069_1356del deletion Likely pathogenic

Expression for Bardet-Biedl Syndrome 16

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 16.

Pathways for Bardet-Biedl Syndrome 16

Pathways related to Bardet-Biedl Syndrome 16 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 ALMS1 BBS1 SDCCAG8

GO Terms for Bardet-Biedl Syndrome 16

Cellular components related to Bardet-Biedl Syndrome 16 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.46 ALMS1 BBS1 CCDC28B SDCCAG8
2 centriole GO:0005814 9.26 ALMS1 SDCCAG8
3 microtubule organizing center GO:0005815 9.13 ALMS1 BBS1 CCDC28B
4 centrosome GO:0005813 8.92 ALMS1 BBS1 CCDC28B SDCCAG8

Biological processes related to Bardet-Biedl Syndrome 16 according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.32 BBS1 CCDC28B
2 cell projection organization GO:0030030 9.26 BBS1 CCDC28B
3 G2/M transition of mitotic cell cycle GO:0000086 9.16 ALMS1 SDCCAG8
4 ciliary basal body-plasma membrane docking GO:0097711 8.96 ALMS1 SDCCAG8
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.62 ALMS1 SDCCAG8

Sources for Bardet-Biedl Syndrome 16

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
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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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