BBS16
MCID: BRD047
MIFTS: 37

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 74 29 6 15 72
Bbs16 57 12 74
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:



External Ids:

Disease Ontology 12 DOID:0110138
MeSH 44 D020788
ICD10 33 Q87.89
UMLS 72 C3889474

Summaries for Bardet-Biedl Syndrome 16

UniProtKB/Swiss-Prot : 74 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 hypomelanosis of ito and bardet-biedl syndrome 1, 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 and kidney, 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

Human phenotypes related to Bardet-Biedl Syndrome 16:

32 (showing 16, show less)
# 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 cognitive impairment 32 HP:0100543
6 renal insufficiency 32 HP:0000083
7 respiratory distress 32 HP:0002098
8 recurrent otitis media 32 HP:0000403
9 hypogonadism 32 HP:0000135
10 rod-cone dystrophy 32 HP:0000510
11 renal agenesis 32 HP:0000104
12 renal cyst 32 HP:0000107
13 renal dysplasia 32 HP:0000110
14 retinal degeneration 32 HP:0000546
15 external genital hypoplasia 32 HP:0003241
16 bronchiolitis 32 HP:0011950

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

UMLS symptoms related to Bardet-Biedl Syndrome 16:


respiratory distress

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 16:

46 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.55 AKT3 ALMS1 BBS1 SDCCAG8 TYR
2 renal/urinary system MP:0005367 9.26 ALMS1 BBS1 SDCCAG8 TYR
3 vision/eye MP:0005391 8.92 ALMS1 BBS1 SDCCAG8 TYR

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

Publications for Bardet-Biedl Syndrome 16

Articles related to Bardet-Biedl Syndrome 16:

(showing 8, show less)
# Title Authors PMID Year
1
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 38 8 71
22190896 2011
2
Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. 8 71
22626039 2012
3
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 8 71
20835237 2010
4
Bardet-Biedl Syndrome 38 71
20301537 2003
5
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 71
12567324 2003
6
Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model. 38
29444170 2018
7
[Current status and implication of research on Bardet-Biedl syndrome]. 38
24078572 2013
8
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. 38
22773737 2012

Variations for Bardet-Biedl Syndrome 16

ClinVar genetic disease variations for Bardet-Biedl Syndrome 16:

6 (showing 28, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SDCCAG8 NM_006642.5(SDCCAG8): c.740+356C> T single nucleotide variant Pathogenic rs397515337 1:243468435-243468435 1:243305133-243305133
2 SDCCAG8 NM_006642.5(SDCCAG8): c.679A> T (p.Lys227Ter) single nucleotide variant Pathogenic rs267607031 1:243468018-243468018 1:243304716-243304716
3 SDCCAG8 NM_006642.5(SDCCAG8): c.1628_1631del (p.Asp543fs) deletion Pathogenic rs587777846 1:243579014-243579017 1:243415712-243415715
4 SDCCAG8 NM_006642.5(SDCCAG8): c.1444del (p.Thr482fs) deletion Pathogenic rs587777847 1:243507604-243507604 1:243344302-243344302
5 SDCCAG8 NM_006642.5(SDCCAG8): c.221-2A> G single nucleotide variant Pathogenic rs797045946 1:243434278-243434278 1:243270976-243270976
6 SDCCAG8 NM_006642.5(SDCCAG8): c.696del (p.Thr231_Tyr232insTer) deletion Pathogenic 1:243468035-243468035 1:243304733-243304733
7 SDCCAG8 NC_000001.10: g.(?_242431558)_(244006492_?)del deletion Pathogenic 1:242431558-244006492 1:242268256-243843190
8 SDCCAG8 NM_006642.5(SDCCAG8): c.307-1G> A single nucleotide variant Likely pathogenic 1:243437844-243437844 1:243274542-243274542
9 SDCCAG8 NM_006642.5(SDCCAG8): c.546+1G> A single nucleotide variant Likely pathogenic 1:243449700-243449700 1:243286398-243286398
10 SDCCAG8 NM_006642.3: c.1069_1356del deletion Likely pathogenic
11 SDCCAG8 NM_006642.5(SDCCAG8): c.1120C> T (p.Arg374Ter) single nucleotide variant Likely pathogenic 1:243493893-243493893 1:243330591-243330591
12 SDCCAG8 NM_006642.5(SDCCAG8): c.279G> A (p.Pro93=) single nucleotide variant Conflicting interpretations of pathogenicity rs145877279 1:243434338-243434338 1:243271036-243271036
13 SDCCAG8 NM_006642.5(SDCCAG8): c.1409A> G (p.Glu470Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs118064970 1:243507569-243507569 1:243344267-243344267
14 SDCCAG8 NM_006642.5(SDCCAG8): c.778C> G (p.Leu260Val) single nucleotide variant Uncertain significance rs201869920 1:243471328-243471328 1:243308026-243308026
15 SDCCAG8 NM_006642.5(SDCCAG8): c.916G> A (p.Glu306Lys) single nucleotide variant Uncertain significance rs777002036 1:243471466-243471466 1:243308164-243308164
16 SDCCAG8 NM_006642.5(SDCCAG8): c.518T> C (p.Leu173Pro) single nucleotide variant Uncertain significance rs541533278 1:243449671-243449671 1:243286369-243286369
17 SDCCAG8 NM_006642.5(SDCCAG8): c.799A> T (p.Lys267Ter) single nucleotide variant Uncertain significance 1:243471349-243471349 1:243308047-243308047
18 SDCCAG8 NM_006642.5(SDCCAG8): c.31G> C (p.Glu11Gln) single nucleotide variant Uncertain significance 1:243419506-243419506 1:243256204-243256204
19 SDCCAG8 NM_006642.5(SDCCAG8): c.160A> T (p.Thr54Ser) single nucleotide variant Uncertain significance 1:243433499-243433499 1:243270197-243270197
20 SDCCAG8 NM_006642.5(SDCCAG8): c.181G> T (p.Ala61Ser) single nucleotide variant Uncertain significance 1:243433520-243433520 1:243270218-243270218
21 SDCCAG8 NM_006642.5(SDCCAG8): c.1783T> G (p.Phe595Val) single nucleotide variant Uncertain significance 1:243581308-243581308 1:243418006-243418006
22 SDCCAG8 NM_006642.5(SDCCAG8): c.1730A> C (p.Gln577Pro) single nucleotide variant Uncertain significance 1:243579117-243579117 1:243415815-243415815
23 SDCCAG8 NM_006642.5(SDCCAG8): c.572C> T (p.Thr191Ile) single nucleotide variant Uncertain significance rs150070966 1:243456418-243456418 1:243293116-243293116
24 SDCCAG8 NM_006642.5(SDCCAG8): c.237T> A (p.Asp79Glu) single nucleotide variant Uncertain significance rs146474568 1:243434296-243434296 1:243270994-243270994
25 SDCCAG8 NM_006642.5(SDCCAG8): c.1094G> A (p.Arg365Lys) single nucleotide variant Likely benign rs115098969 1:243493867-243493867 1:243330565-243330565
26 SDCCAG8 NM_006642.5(SDCCAG8): c.1094G> C (p.Arg365Thr) single nucleotide variant Benign/Likely benign rs115098969 1:243493867-243493867 1:243330565-243330565
27 SDCCAG8 NM_006642.5(SDCCAG8): c.912C> T (p.Thr304=) single nucleotide variant Benign/Likely benign rs976529 1:243471462-243471462 1:243308160-243308160
28 SDCCAG8 NM_006642.5(SDCCAG8): c.2067G> A (p.Leu689=) single nucleotide variant Benign rs191821211 1:243652397-243652397 1:243489095-243489095

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 SDCCAG8 BBS1 ALMS1

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 SDCCAG8 CCDC28B BBS1 ALMS1
2 centriole GO:0005814 9.26 SDCCAG8 ALMS1
3 microtubule organizing center GO:0005815 9.13 CCDC28B BBS1 ALMS1
4 centrosome GO:0005813 8.92 SDCCAG8 CCDC28B BBS1 ALMS1

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

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 G2/M transition of mitotic cell cycle GO:0000086 9.16 SDCCAG8 ALMS1
2 ciliary basal body-plasma membrane docking GO:0097711 8.96 SDCCAG8 ALMS1
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 8.62 SDCCAG8 ALMS1

Sources for Bardet-Biedl Syndrome 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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