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 57 12 75 29 6 15 73
Bbs16 57 12 75
Bardet-Biedl Syndrome, Type 16 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
early-onset severe renal disease


HPO:

32
bardet-biedl syndrome 16:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 16

UniProtKB/Swiss-Prot : 75 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 : 57 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Bardet-Biedl Syndrome 16:

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 intellectual disability 32 HP:0001249
3 hearing impairment 32 HP:0000365
4 global developmental delay 32 HP:0001263
5 recurrent respiratory infections 32 HP:0002205
6 cognitive impairment 32 HP:0100543
7 renal insufficiency 32 HP:0000083
8 respiratory distress 32 HP:0002098
9 recurrent otitis media 32 HP:0000403
10 hypogonadism 32 HP:0000135
11 rod-cone dystrophy 32 HP:0000510
12 renal agenesis 32 HP:0000104
13 renal cyst 32 HP:0000107
14 renal dysplasia 32 HP:0000110
15 retinal degeneration 32 HP:0000546
16 external genital hypoplasia 32 HP:0003241
17 bronchiolitis 32 HP:0011950

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 29 SDCCAG8

Anatomical Context for Bardet-Biedl Syndrome 16

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

41
Heart, Kidney, Eye

Publications for Bardet-Biedl Syndrome 16

Variations for Bardet-Biedl Syndrome 16

ClinVar genetic disease variations for Bardet-Biedl Syndrome 16:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 SDCCAG8 NM_006642.4(SDCCAG8): c.740+356C> T single nucleotide variant Pathogenic rs397515337 GRCh37 Chromosome 1, 243468435: 243468435
2 SDCCAG8 NM_006642.4(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_1630delGATA (p.Asp543Alafs) deletion Pathogenic rs587777846 GRCh38 Chromosome 1, 243415712: 243415715
6 SDCCAG8 NM_006642.4(SDCCAG8): c.1627_1630delGATA (p.Asp543Alafs) deletion Pathogenic rs587777846 GRCh37 Chromosome 1, 243579014: 243579017
7 SDCCAG8 NM_006642.4(SDCCAG8): c.1444delA (p.Thr482Leufs) deletion Pathogenic rs587777847 GRCh38 Chromosome 1, 243344302: 243344302
8 SDCCAG8 NM_006642.4(SDCCAG8): c.1444delA (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_006642.4(SDCCAG8): c.279G> A (p.Pro93=) single nucleotide variant Conflicting interpretations of pathogenicity rs145877279 GRCh38 Chromosome 1, 243271036: 243271036
14 SDCCAG8 NM_006642.4(SDCCAG8): c.279G> A (p.Pro93=) single nucleotide variant Conflicting interpretations of pathogenicity rs145877279 GRCh37 Chromosome 1, 243434338: 243434338
15 SDCCAG8 NM_006642.4(SDCCAG8): c.912C> T (p.Thr304=) single nucleotide variant Benign/Likely benign rs976529 GRCh38 Chromosome 1, 243308160: 243308160
16 SDCCAG8 NM_006642.4(SDCCAG8): c.912C> T (p.Thr304=) single nucleotide variant Benign/Likely benign rs976529 GRCh37 Chromosome 1, 243471462: 243471462
17 SDCCAG8 NM_006642.4(SDCCAG8): c.237T> A (p.Asp79Glu) single nucleotide variant Uncertain significance rs146474568 GRCh38 Chromosome 1, 243270994: 243270994
18 SDCCAG8 NM_006642.4(SDCCAG8): c.237T> A (p.Asp79Glu) single nucleotide variant Uncertain significance rs146474568 GRCh37 Chromosome 1, 243434296: 243434296
19 SDCCAG8 NM_006642.4(SDCCAG8): c.778C> G (p.Leu260Val) single nucleotide variant Uncertain significance rs201869920 GRCh38 Chromosome 1, 243308026: 243308026
20 SDCCAG8 NM_006642.4(SDCCAG8): c.778C> G (p.Leu260Val) single nucleotide variant Uncertain significance rs201869920 GRCh37 Chromosome 1, 243471328: 243471328
21 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> C (p.Arg365Thr) single nucleotide variant Benign/Likely benign rs115098969 GRCh37 Chromosome 1, 243493867: 243493867
22 SDCCAG8 NM_006642.4(SDCCAG8): c.1094G> C (p.Arg365Thr) single nucleotide variant Benign/Likely benign rs115098969 GRCh38 Chromosome 1, 243330565: 243330565
23 SDCCAG8 NM_006642.4(SDCCAG8): c.916G> A (p.Glu306Lys) single nucleotide variant Uncertain significance rs777002036 GRCh38 Chromosome 1, 243308164: 243308164
24 SDCCAG8 NM_006642.4(SDCCAG8): c.916G> A (p.Glu306Lys) single nucleotide variant Uncertain significance rs777002036 GRCh37 Chromosome 1, 243471466: 243471466
25 SDCCAG8 NM_006642.4(SDCCAG8): c.2067G> A (p.Leu689=) single nucleotide variant Benign rs191821211 GRCh38 Chromosome 1, 243489095: 243489095
26 SDCCAG8 NM_006642.4(SDCCAG8): c.2067G> A (p.Leu689=) single nucleotide variant Benign rs191821211 GRCh37 Chromosome 1, 243652397: 243652397
27 SDCCAG8 NM_006642.4(SDCCAG8): c.518T> C (p.Leu173Pro) single nucleotide variant Uncertain significance rs541533278 GRCh37 Chromosome 1, 243449671: 243449671
28 SDCCAG8 NM_006642.4(SDCCAG8): c.518T> C (p.Leu173Pro) single nucleotide variant Uncertain significance rs541533278 GRCh38 Chromosome 1, 243286369: 243286369
29 SDCCAG8 NM_006642.4(SDCCAG8): c.799A> T (p.Lys267Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 243471349: 243471349
30 SDCCAG8 NM_006642.4(SDCCAG8): c.799A> T (p.Lys267Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 243308047: 243308047
31 SDCCAG8 NM_006642.4(SDCCAG8): c.546+1G> A single nucleotide variant Likely pathogenic rs756907665 GRCh38 Chromosome 1, 243286398: 243286398
32 SDCCAG8 NM_006642.4(SDCCAG8): c.546+1G> A single nucleotide variant Likely pathogenic rs756907665 GRCh37 Chromosome 1, 243449700: 243449700

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:

# 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:

# 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:

# 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 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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