BBS16
MCID: BRD047
MIFTS: 44

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 72 29 6 15 70
Bbs16 57 12 72
Bardet-Biedl Syndrome, Type 16 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
early-onset severe renal disease


HPO:

31
bardet-biedl syndrome 16:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 16

UniProtKB/Swiss-Prot : 72 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 senior-loken syndrome 7 and retinal aplasia, and has symptoms including respiratory distress An important gene associated with Bardet-Biedl Syndrome 16 is SDCCAG8 (SHH Signaling And Ciliogenesis Regulator SDCCAG8), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. Related phenotypes are intellectual disability and hearing impairment

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) (Updated 05-Apr-2021)

Related Diseases for Bardet-Biedl Syndrome 16

Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 3
Bardet-Biedl Syndrome 6 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 5
Bardet-Biedl Syndrome 7 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 9 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 12
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14
Bardet-Biedl Syndrome 15 Bardet-Biedl Syndrome 16
Bardet-Biedl Syndrome 17 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 19 Bardet-Biedl Syndrome 20
Bardet-Biedl Syndrome 21

Diseases related to Bardet-Biedl Syndrome 16 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 7 10.3 SDCCAG8 AKT3
2 retinal aplasia 10.3 SDCCAG8 AKT3
3 nonsyndromic retinitis pigmentosa 10.2 TTC8 BBS1
4 simpson-golabi-behmel syndrome, type 2 10.1 SDCCAG8 BBS4
5 bardet-biedl syndrome 9 10.1 TTC8 BBS9
6 bardet-biedl syndrome 12 10.1 WDPCP BBS12
7 bardet-biedl syndrome 10 10.0 BBS12 BBS10 BBS1
8 borjeson-forssman-lehmann syndrome 10.0 BBS12 BBS10
9 polydactyly, postaxial, type a1 10.0 BBS12 BBS10 BBIP1
10 ciliopathy 9.9 SDCCAG8 BBS7 BBS1
11 nephronophthisis 7 9.9 SDCCAG8 MKS1
12 nephronophthisis 9 9.8 SDCCAG8 MKS1
13 usher syndrome type 2 9.8 BBS9 BBS5 BBS10 BBS1
14 cranioectodermal dysplasia 9.7 MKS1 BBS9 BBS1
15 cohen syndrome 9.7 MKS1 BBS10 BBS1
16 night blindness, congenital stationary, autosomal dominant 3 9.7 BBS9 BBS5 BBS12 BBS10
17 usher syndrome 9.7 TTC8 BBS9 BBS12 BBS10 BBS1
18 polycystic kidney disease 4 with or without polycystic liver disease 9.6 MKS1 BBS4 BBS1
19 meckel syndrome, type 6 9.6 WDPCP MKS1
20 nephronophthisis 2 9.6 SDCCAG8 MKS1 BBS4 BBS1
21 kartagener syndrome 9.5 SDCCAG8 MKS1 BBS4 BBS1
22 retinal degeneration 9.5 BBS7 BBS4 BBS10 BBS1
23 polycystic kidney disease 1 with or without polycystic liver disease 9.4 MKS1 BBS4 BBS1
24 physical disorder 9.3 MKS1 BBS7 BBS4 BBS1
25 visceral heterotaxy 9.3 MKS1 BBS7 BBS4 BBS1
26 joubert syndrome 1 9.2 SDCCAG8 MKS1 BBS5 BBS4 BBS1
27 primary ciliary dyskinesia 9.2 SDCCAG8 MKS1 BBS5 BBS4 BBS1
28 polycystic kidney disease 9.2 TTC8 MKS1 BBS5 BBS4 BBS1
29 cone dystrophy 9.2 BBS7 BBS5 BBS12 BBS10 BBS1 BBIP1
30 alstrom syndrome 9.2 BBS9 BBS7 BBS5 BBS4 BBS10 BBS1
31 retinal disease 9.0 TTC8 BBS9 BBS7 BBS5 BBS4 BBS10
32 senior-loken syndrome 1 8.9 SDCCAG8 MKS1 BBS5 BBS4 BBS12 BBS10
33 mckusick-kaufman syndrome 8.8 TTC8 BBS9 BBS7 BBS5 BBS4 BBS12
34 cone-rod dystrophy 2 8.8 MKS1 BBS9 BBS7 BBS4 BBS12 BBS10
35 bardet-biedl syndrome 15 8.5 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
36 asphyxiating thoracic dystrophy 8.3 WDPCP SDCCAG8 MKS1 LZTFL1 BBS7 BBS5
37 leber plus disease 8.2 TTC8 SDCCAG8 MKS1 BBS9 BBS7 BBS5
38 meckel syndrome, type 1 8.2 WDPCP SDCCAG8 MKS1 BBS9 BBS7 BBS5
39 bardet-biedl syndrome 17 8.2 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
40 fundus dystrophy 8.0 WDPCP TTC8 SDCCAG8 MKS1 BBS9 BBS7
41 bardet-biedl syndrome 13 8.0 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
42 bardet-biedl syndrome 8 7.9 TTC8 MKS1 LZTFL1 BBS9 BBS7 BBS5
43 bardet-biedl syndrome 3 7.9 TTC8 MKS1 LZTFL1 BBS9 BBS7 BBS5
44 nephronophthisis 7.9 WDPCP TTC8 SDCCAG8 MKS1 BBS9 BBS7
45 bardet-biedl syndrome 19 7.8 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
46 bardet-biedl syndrome 18 7.8 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
47 polydactyly 7.7 TTC8 SDCCAG8 MKS1 LZTFL1 BBS9 BBS7
48 bardet-biedl syndrome 1 7.6 WDPCP TTC8 SDCCAG8 MKS1 LZTFL1 BBS9
49 bardet-biedl syndrome 14 7.6 WDPCP TTC8 SDCCAG8 MKS1 LZTFL1 BBS9
50 bardet-biedl syndrome 11 7.6 WDPCP TTC8 SDCCAG8 MKS1 LZTFL1 BBS9

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:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hearing impairment 31 HP:0000365
3 global developmental delay 31 HP:0001263
4 cognitive impairment 31 HP:0100543
5 renal insufficiency 31 HP:0000083
6 recurrent otitis media 31 HP:0000403
7 obesity 31 HP:0001513
8 rod-cone dystrophy 31 HP:0000510
9 respiratory distress 31 HP:0002098
10 hypogonadism 31 HP:0000135
11 renal agenesis 31 HP:0000104
12 renal cyst 31 HP:0000107
13 retinal degeneration 31 HP:0000546
14 renal dysplasia 31 HP:0000110
15 external genital hypoplasia 31 HP:0003241
16 bronchiolitis 31 HP:0011950

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
cognitive impairment
developmental delay
mental retardation
learning disabilities

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

Growth Weight:
obesity

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 (Updated 05-Apr-2021)

UMLS symptoms related to Bardet-Biedl Syndrome 16:


respiratory distress

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 16:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 AKT3 BBIP1 BBS1 BBS10 BBS12 BBS4
2 cellular MP:0005384 10.13 AKT3 BBS1 BBS10 BBS12 BBS4 BBS7
3 nervous system MP:0003631 10.1 AKT3 BBIP1 BBS1 BBS10 BBS12 BBS4
4 adipose tissue MP:0005375 10 BBS1 BBS10 BBS12 BBS4 BBS5 BBS9
5 craniofacial MP:0005382 9.95 BBS1 BBS4 BBS7 MKS1 SDCCAG8 TTC8
6 limbs/digits/tail MP:0005371 9.87 BBS1 BBS5 BBS7 BBS9 MKS1 SDCCAG8
7 renal/urinary system MP:0005367 9.81 BBS1 BBS10 BBS12 BBS4 BBS7 MKS1
8 vision/eye MP:0005391 9.44 BBIP1 BBS1 BBS10 BBS12 BBS4 BBS5
9 taste/olfaction MP:0005394 9.26 BBS1 BBS4 BBS7 TTC8

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

Publications for Bardet-Biedl Syndrome 16

Articles related to Bardet-Biedl Syndrome 16:

# Title Authors PMID Year
1
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. 61 6 57
22190896 2011
2
Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. 6 57
22626039 2012
3
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 6 57
20835237 2010
4
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 6
21866095 2011
5
Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation. 61
31534065 2019
6
Genotypic and phenotypic characterization of the Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove mouse model. 61
29444170 2018
7
[Current status and implication of research on Bardet-Biedl syndrome]. 61
24078572 2013
8
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. 61
22773737 2012

Variations for Bardet-Biedl Syndrome 16

ClinVar genetic disease variations for Bardet-Biedl Syndrome 16:

6 (show top 50) (show all 171)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SDCCAG8 NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter) SNV Pathogenic 61 rs267607031 GRCh37: 1:243468018-243468018
GRCh38: 1:243304716-243304716
2 SDCCAG8 NM_006642.5(SDCCAG8):c.1628_1631del (p.Asp543fs) Deletion Pathogenic 156528 rs587777846 GRCh37: 1:243579013-243579016
GRCh38: 1:243415711-243415714
3 SDCCAG8 NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs) Deletion Pathogenic 156529 rs587777847 GRCh37: 1:243507600-243507600
GRCh38: 1:243344298-243344298
4 SDCCAG8 NM_006642.5(SDCCAG8):c.221-2A>G SNV Pathogenic 212139 rs797045946 GRCh37: 1:243434278-243434278
GRCh38: 1:243270976-243270976
5 SDCCAG8 NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer) Deletion Pathogenic 654015 rs1558264626 GRCh37: 1:243468035-243468035
GRCh38: 1:243304733-243304733
6 overlap with 7 genes NC_000001.11:g.(?_242268256)_(243843190_?)del Deletion Pathogenic 660672 GRCh37: 1:242431558-244006492
GRCh38: 1:242268256-243843190
7 SDCCAG8 NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter) SNV Pathogenic 838639 GRCh37: 1:243581288-243581288
GRCh38: 1:243417986-243417986
8 SDCCAG8 NC_000001.11:g.(?_243415682)_(243415849_?)del Deletion Pathogenic 831973 GRCh37: 1:243578984-243579151
GRCh38:
9 SDCCAG8 NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter) SNV Pathogenic 998212 GRCh37: 1:243437935-243437935
GRCh38: 1:243274633-243274633
10 SDCCAG8 NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) Deletion Pathogenic 57 rs397515335 GRCh37: 1:243507579-243507579
GRCh38: 1:243344277-243344277
11 SDCCAG8 NM_006642.5(SDCCAG8):c.741-152G>A SNV Pathogenic 917956 GRCh37: 1:243471139-243471139
GRCh38: 1:243307837-243307837
12 SDCCAG8 NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs) Deletion Pathogenic 156529 rs587777847 GRCh37: 1:243507600-243507600
GRCh38: 1:243344298-243344298
13 SDCCAG8 NM_006642.5(SDCCAG8):c.740+356C>T SNV Pathogenic 60 rs397515337 GRCh37: 1:243468435-243468435
GRCh38: 1:243305133-243305133
14 SDCCAG8 NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) SNV Pathogenic 846611 GRCh37: 1:243468035-243468035
GRCh38: 1:243304733-243304733
15 SDCCAG8 NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) SNV Pathogenic 846611 GRCh37: 1:243468035-243468035
GRCh38: 1:243304733-243304733
16 SDCCAG8 NM_006642.5(SDCCAG8):c.1985+1G>T SNV Pathogenic 1033130 GRCh37: 1:243589861-243589861
GRCh38: 1:243426559-243426559
17 SDCCAG8 NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter) SNV Likely pathogenic 635017 rs770084716 GRCh37: 1:243493893-243493893
GRCh38: 1:243330591-243330591
18 SDCCAG8 NM_006642.5(SDCCAG8):c.1942C>T (p.Gln648Ter) SNV Likely pathogenic 931345 GRCh37: 1:243589817-243589817
GRCh38: 1:243426515-243426515
19 SDCCAG8 NM_006642.5(SDCCAG8):c.221-1G>A SNV Likely pathogenic 938526 GRCh37: 1:243434279-243434279
GRCh38: 1:243270977-243270977
20 SDCCAG8 NM_006642.5(SDCCAG8):c.1853+1G>A SNV Likely pathogenic 800830 rs1573930690 GRCh37: 1:243581379-243581379
GRCh38: 1:243418077-243418077
21 SDCCAG8 NM_006642.5(SDCCAG8):c.307-1G>A SNV Likely pathogenic 649302 rs1460888769 GRCh37: 1:243437844-243437844
GRCh38: 1:243274542-243274542
22 SDCCAG8 NM_006642.3:c.1069_1356del Deletion Likely pathogenic 623226 GRCh37:
GRCh38:
23 SDCCAG8 NM_006642.5(SDCCAG8):c.546+1G>A SNV Likely pathogenic 566217 rs756907665 GRCh37: 1:243449700-243449700
GRCh38: 1:243286398-243286398
24 SDCCAG8 NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) SNV Conflicting interpretations of pathogenicity 296908 rs150070966 GRCh37: 1:243456418-243456418
GRCh38: 1:243293116-243293116
25 SDCCAG8 NM_006642.5(SDCCAG8):c.1985G>A (p.Arg662Lys) SNV Uncertain significance 1030121 GRCh37: 1:243589860-243589860
GRCh38: 1:243426558-243426558
26 SDCCAG8 NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys) SNV Uncertain significance 873717 GRCh37: 1:243542143-243542143
GRCh38: 1:243378841-243378841
27 SDCCAG8 NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) SNV Uncertain significance 296914 rs199919586 GRCh37: 1:243542074-243542074
GRCh38: 1:243378772-243378772
28 SDCCAG8 NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser) SNV Uncertain significance 951714 GRCh37: 1:243480071-243480071
GRCh38: 1:243316769-243316769
29 SDCCAG8 NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) SNV Uncertain significance 296914 rs199919586 GRCh37: 1:243542074-243542074
GRCh38: 1:243378772-243378772
30 SDCCAG8 NM_006642.5(SDCCAG8):c.349G>A (p.Asp117Asn) SNV Uncertain significance 957571 GRCh37: 1:243437887-243437887
GRCh38: 1:243274585-243274585
31 SDCCAG8 NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) SNV Uncertain significance 296908 rs150070966 GRCh37: 1:243456418-243456418
GRCh38: 1:243293116-243293116
32 SDCCAG8 NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) SNV Uncertain significance 436676 rs201869920 GRCh37: 1:243471328-243471328
GRCh38: 1:243308026-243308026
33 SDCCAG8 NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser) SNV Uncertain significance 641196 rs149928402 GRCh37: 1:243433520-243433520
GRCh38: 1:243270218-243270218
34 SDCCAG8 NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro) SNV Uncertain significance 649190 rs771493123 GRCh37: 1:243579117-243579117
GRCh38: 1:243415815-243415815
35 SDCCAG8 NM_006642.5(SDCCAG8):c.1068+3A>G SNV Uncertain significance 844737 GRCh37: 1:243480198-243480198
GRCh38: 1:243316896-243316896
36 SDCCAG8 NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr) SNV Uncertain significance 847765 GRCh37: 1:243480074-243480074
GRCh38: 1:243316772-243316772
37 AKT3 , SDCCAG8 NM_006642.5(SDCCAG8):c.2122A>G (p.Met708Val) SNV Uncertain significance 853144 GRCh37: 1:243663067-243663067
GRCh38: 1:243499765-243499765
38 SDCCAG8 NM_006642.5(SDCCAG8):c.1427G>A (p.Arg476Lys) SNV Uncertain significance 857829 GRCh37: 1:243507587-243507587
GRCh38: 1:243344285-243344285
39 SDCCAG8 NM_006642.5(SDCCAG8):c.1492A>G (p.Ile498Val) SNV Uncertain significance 859726 GRCh37: 1:243542041-243542041
GRCh38: 1:243378739-243378739
40 SDCCAG8 NM_006642.5(SDCCAG8):c.1247C>T (p.Ala416Val) SNV Uncertain significance 861284 GRCh37: 1:243504366-243504366
GRCh38: 1:243341064-243341064
41 SDCCAG8 NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) SNV Uncertain significance 436676 rs201869920 GRCh37: 1:243471328-243471328
GRCh38: 1:243308026-243308026
42 SDCCAG8 NM_006642.5(SDCCAG8):c.233A>G (p.Lys78Arg) SNV Uncertain significance 934835 GRCh37: 1:243434292-243434292
GRCh38: 1:243270990-243270990
43 SDCCAG8 NM_006642.5(SDCCAG8):c.1375T>C (p.Tyr459His) SNV Uncertain significance 940955 GRCh37: 1:243507535-243507535
GRCh38: 1:243344233-243344233
44 SDCCAG8 NM_006642.5(SDCCAG8):c.122T>C (p.Val41Ala) SNV Uncertain significance 950654 GRCh37: 1:243433461-243433461
GRCh38: 1:243270159-243270159
45 SDCCAG8 NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=) SNV Uncertain significance 969829 GRCh37: 1:243419541-243419541
GRCh38: 1:243256239-243256239
46 SDCCAG8 NM_006642.5(SDCCAG8):c.1552A>G (p.Arg518Gly) SNV Uncertain significance 970802 GRCh37: 1:243542101-243542101
GRCh38: 1:243378799-243378799
47 SDCCAG8 NM_006642.5(SDCCAG8):c.76A>G (p.Ser26Gly) SNV Uncertain significance 971501 GRCh37: 1:243433415-243433415
GRCh38: 1:243270113-243270113
48 SDCCAG8 NM_006642.5(SDCCAG8):c.283A>G (p.Arg95Gly) SNV Uncertain significance 999475 GRCh37: 1:243434342-243434342
GRCh38: 1:243271040-243271040
49 SDCCAG8 NM_006642.5(SDCCAG8):c.1151A>G (p.Glu384Gly) SNV Uncertain significance 1003829 GRCh37: 1:243493924-243493924
GRCh38: 1:243330622-243330622
50 SDCCAG8 NM_006642.5(SDCCAG8):c.966_977dup (p.Arg323_Leu326dup) Duplication Uncertain significance 1004338 GRCh37: 1:243480091-243480092
GRCh38: 1:243316789-243316790

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
12.13 TTC8 SDCCAG8 MKS1 LZTFL1 BBS9 BBS7
2
Show member pathways
11.68 TTC8 LZTFL1 BBS9 BBS7 BBS5 BBS4

GO Terms for Bardet-Biedl Syndrome 16

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.32 WDPCP TTC8 SDCCAG8 PDE11A MKS1 LZTFL1
2 cytosol GO:0005829 10.26 TTC8 SDCCAG8 PDE11A MKS1 LZTFL1 BBS9
3 cytoskeleton GO:0005856 10.06 WDPCP TTC8 SDCCAG8 MKS1 BBS9 BBS7
4 microtubule organizing center GO:0005815 9.97 TTC8 SDCCAG8 MKS1 BBS9 BBS7 BBS5
5 cell projection GO:0042995 9.93 WDPCP TTC8 SDCCAG8 MKS1 BBS9 BBS7
6 centrosome GO:0005813 9.91 TTC8 SDCCAG8 MKS1 BBS7 BBS4 BBS1
7 ciliary basal body GO:0036064 9.87 TTC8 SDCCAG8 MKS1 BBS7 BBS5 BBS4
8 axoneme GO:0005930 9.78 WDPCP BBS7 BBS5 BBS1
9 centriolar satellite GO:0034451 9.76 SDCCAG8 BBS9 BBS5 BBS4
10 ciliary membrane GO:0060170 9.73 TTC8 BBS9 BBS7 BBS5 BBS4 BBS1
11 centriole GO:0005814 9.72 SDCCAG8 MKS1 BBS4
12 ciliary transition zone GO:0035869 9.67 MKS1 BBS9 BBS4
13 non-motile cilium GO:0097730 9.56 TTC8 BBS4
14 pericentriolar material GO:0000242 9.54 BBS9 BBS4
15 BBSome GO:0034464 9.5 TTC8 BBS9 BBS7 BBS5 BBS4 BBS1
16 cilium GO:0005929 9.36 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.93 BBS9 BBS7 BBS5 BBS4 BBS10 BBS1
2 protein transport GO:0015031 9.91 TTC8 BBS9 BBS7 BBS5 BBS4 BBS1
3 visual perception GO:0007601 9.73 BBS9 BBS7 BBS5 BBS4 BBS10 BBS1
4 fat cell differentiation GO:0045444 9.71 TTC8 BBS9 BBS7 BBS4
5 heart looping GO:0001947 9.7 BBS7 BBS5 BBS4
6 protein localization to cilium GO:0061512 9.67 BBS9 BBS4 BBS1
7 intracellular transport GO:0046907 9.65 BBS7 BBS5 BBS4
8 non-motile cilium assembly GO:1905515 9.63 TTC8 MKS1 BBS7 BBS4 BBS10 BBS1
9 photoreceptor cell maintenance GO:0045494 9.62 BBS4 BBS12 BBS10 BBS1
10 melanosome transport GO:0032402 9.61 BBS7 BBS5 BBS4
11 cilium assembly GO:0060271 9.61 WDPCP TTC8 MKS1 BBS9 BBS7 BBS5
12 centrosome cycle GO:0007098 9.58 SDCCAG8 BBS4
13 motile cilium assembly GO:0044458 9.57 MKS1 BBS5
14 brain morphogenesis GO:0048854 9.56 BBS4 AKT3
15 inner ear receptor cell stereocilium organization GO:0060122 9.55 TTC8 MKS1
16 chaperone-mediated protein complex assembly GO:0051131 9.54 BBS12 BBS10
17 sensory processing GO:0050893 9.51 TTC8 BBS4
18 cell projection organization GO:0030030 9.32 WDPCP TTC8 SDCCAG8 MKS1 BBS9 BBS7

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.83 WDPCP TTC8 SDCCAG8 PDE11A MKS1 LZTFL1
2 RNA polymerase II repressing transcription factor binding GO:0001103 9.1 TTC8 BBS7 BBS5 BBS4 BBS10 BBS1

Sources for Bardet-Biedl Syndrome 16

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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