BBS7
MCID: BRD019
MIFTS: 42

Bardet-Biedl Syndrome 7 (BBS7)

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 7

MalaCards integrated aliases for Bardet-Biedl Syndrome 7:

Name: Bardet-Biedl Syndrome 7 56 12 52 73 29 6 15 17 71
Bbs7 56 12 73
Bardet-Biedl Syndrome, Type 7 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
limited clinical information provided on patients with bbs7 mutations


HPO:

31
bardet-biedl syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110129
OMIM 56 615984
OMIM Phenotypic Series 56 PS209900
MeSH 43 D020788
ICD10 32 Q87.89
MedGen 41 C1859565
UMLS 71 C1859565

Summaries for Bardet-Biedl Syndrome 7

UniProtKB/Swiss-Prot : 73 Bardet-Biedl syndrome 7: 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 7, also known as bbs7, is related to bardet-biedl syndrome and polydactyly. An important gene associated with Bardet-Biedl Syndrome 7 is BBS7 (Bardet-Biedl Syndrome 7), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Regulation of degradation of deltaF508 CFTR in CF. Affiliated tissues include heart, testes and prostate, and related phenotypes are obesity and intellectual disability

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous mutation in the BBS7 gene on chromosome 4q27.

OMIM : 56 BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%. For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615984)

Related Diseases for Bardet-Biedl Syndrome 7

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 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 63, show less)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 32.8 MYO9A LRP2BP KDM4C BBS7
2 polydactyly 31.9 WDR60 WDR34 TCTEX1D2 BBS7
3 asphyxiating thoracic dystrophy 31.1 WDR60 WDR34 TCTEX1D2 BBS7
4 bardet-biedl syndrome 4 29.7 RGS9BP GUCA1B
5 retinal degeneration 11.6
6 bardet-biedl syndrome 1 11.6
7 retinitis pigmentosa 11.6
8 ciliopathy 11.6
9 bardet-biedl syndrome 8 11.4
10 bardet-biedl syndrome 10 11.4
11 bardet-biedl syndrome 17 11.4
12 mckusick-kaufman syndrome 11.4
13 bardet-biedl syndrome 3 11.4
14 bardet-biedl syndrome 6 11.4
15 bardet-biedl syndrome 11 11.4
16 bardet-biedl syndrome 13 11.4
17 bardet-biedl syndrome 14 11.4
18 bardet-biedl syndrome 15 11.4
19 bardet-biedl syndrome 16 11.4
20 bardet-biedl syndrome 18 11.4
21 bardet-biedl syndrome 19 11.4
22 fundus dystrophy 11.4
23 tetralogy of fallot 11.2
24 meckel syndrome, type 1 11.2
25 retinal disease 11.2
26 alstrom syndrome 11.0
27 joubert syndrome 1 11.0
28 visceral heterotaxy 11.0
29 nephronophthisis 11.0
30 polydactyly, postaxial, type a1 10.3
31 bardet-biedl syndrome 2 10.3
32 bardet-biedl syndrome 12 10.3
33 neuroretinitis 10.3
34 retinitis 10.3
35 bardet-biedl syndrome 5 10.2
36 bardet-biedl syndrome 9 10.2
37 chromosomal duplication syndrome 10.1 TCTEX1D2 KDM4C
38 short-rib thoracic dysplasia 7 with or without polydactyly 10.0 WDR60 TCTEX1D2
39 short-rib thoracic dysplasia 4 with or without polydactyly 10.0 WDR60 TCTEX1D2
40 hydrocephalus, congenital, 1 10.0
41 nephronophthisis 1 10.0
42 bardet-biedl syndrome 20 10.0
43 bardet-biedl syndrome 21 10.0
44 autosomal recessive disease 10.0
45 cone dystrophy 10.0
46 male infertility 10.0
47 hypogonadism 10.0
48 hypogonadotropism 10.0
49 learning disability 10.0
50 inherited retinal disorder 10.0
51 hydrolethalus syndrome 1 9.8 WDR60 WDR34
52 short-rib thoracic dysplasia 8 with or without polydactyly 9.7 WDR60 WDR34 TCTEX1D2
53 short-rib thoracic dysplasia 12 9.7 WDR60 WDR34 TCTEX1D2
54 short-rib thoracic dysplasia 6 with or without polydactyly 9.7 WDR60 WDR34 TCTEX1D2
55 cleft lip/palate 9.7 WDR60 WDR34 TCTEX1D2
56 cranioectodermal dysplasia 1 9.7 WDR60 WDR34 TCTEX1D2
57 short rib-polydactyly syndrome 9.7 WDR60 WDR34
58 short-rib thoracic dysplasia 3 with or without polydactyly 9.7 WDR60 WDR34 TCTEX1D2
59 ellis-van creveld syndrome 9.7 WDR60 WDR34 TCTEX1D2
60 retinitis pigmentosa 3 9.5 TCTEX1D4 DYNLT3
61 nephronophthisis 4 9.5 RGS9BP KDM4C GUCA1B
62 retinitis pigmentosa 7 9.5 RGS9BP GUCA1B
63 short-rib thoracic dysplasia 11 with or without polydactyly 9.5 WDR60 WDR34 TCTEX1D2 DYNLL2

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 7:



Diseases related to Bardet-Biedl Syndrome 7

Symptoms & Phenotypes for Bardet-Biedl Syndrome 7

Human phenotypes related to Bardet-Biedl Syndrome 7:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 obesity 31 HP:0001513
2 intellectual disability 31 HP:0001249
3 rod-cone dystrophy 31 HP:0000510
4 polydactyly 31 HP:0010442
5 external genital hypoplasia 31 HP:0003241

Symptoms via clinical synopsis from OMIM:

56
Growth Weight:
obesity

Skeletal Feet:
polydactyly

Head And Neck Eyes:
retinitis pigmentosa

Genitourinary Kidneys:
renal abnormalities

Skeletal Hands:
polydactyly

Neurologic Central Nervous System:
mental retardation

Genitourinary External Genitalia Male:
hypogenitalism

Clinical features from OMIM:

615984

Drugs & Therapeutics for Bardet-Biedl Syndrome 7

Search Clinical Trials , NIH Clinical Center for Bardet-Biedl Syndrome 7

Genetic Tests for Bardet-Biedl Syndrome 7

Genetic tests related to Bardet-Biedl Syndrome 7:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 7 29 BBS7

Anatomical Context for Bardet-Biedl Syndrome 7

MalaCards organs/tissues related to Bardet-Biedl Syndrome 7:

40
Heart, Testes, Prostate

Publications for Bardet-Biedl Syndrome 7

Articles related to Bardet-Biedl Syndrome 7:

(showing 54, show less)
# Title Authors PMID Year
1
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 56 6 61
12567324 2003
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6 56
21937992 2011
3
Bardet-Biedl Syndrome 6 61
20301537 2003
4
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 56
19797195 2010
5
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 56
19252258 2009
6
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family. 61
31469663 2020
7
Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa. 61
31589838 2019
8
Identification of Restless Legs Syndrome Genes by Mutational Load Analysis. 61
31788832 2019
9
Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex. 61
31530639 2019
10
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. 61
31283077 2019
11
RIN2 and BBS7 variants as cause of a coincidental syndrome. 61
31521835 2019
12
Exome-wide rare loss-of-function variant enrichment study of 21,347 Han Chinese individuals identifies four susceptibility genes for psoriasis. 61
31376382 2019
13
Pectoral Fin Anomalies in tbx5a Knockdown Zebrafish Embryos Related to the Cascade Effect of N-Cadherin and Extracellular Matrix Formation. 61
31336923 2019
14
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome. 61
30839500 2019
15
[Progress of research on Bardet-Biedl syndrome]. 61
29653013 2018
16
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. 61
29590217 2018
17
Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death. 61
28641477 2018
18
Primary Cilium Formation and Ciliary Protein Trafficking Is Regulated by the Atypical MAP Kinase MAPK15 in Caenorhabditis elegans and Human Cells. 61
29021280 2017
19
Top2b is involved in the formation of outer segment and synapse during late-stage photoreceptor differentiation by controlling key genes of photoreceptor transcriptional regulatory network. 61
28370415 2017
20
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 61
28761321 2017
21
Fine mapping a major obesity locus (jObes1) using a Berlin Fat Mouse × B6N advanced intercross population. 61
27538457 2016
22
Expansion of phenotype and genotypic data in CRB2-related syndrome. 61
27004616 2016
23
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 61
27486776 2016
24
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. 61
26518167 2015
25
Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7. 61
26557828 2015
26
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. 61
25937446 2015
27
Preclinical pharmacokinetic, biodistribution, imaging and therapeutic efficacy of (177)Lu-Labeled glycated bombesin analogue for gastrin-releasing peptide receptor-positive prostate tumor targeting. 61
25498002 2015
28
Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome. 61
25553308 2015
29
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. 61
26325687 2015
30
Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms. 61
24938409 2014
31
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. 61
24849935 2014
32
[Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa]. 61
25241976 2014
33
The nucleotide-binding proteins Nubp1 and Nubp2 are negative regulators of ciliogenesis. 61
23807208 2014
34
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. 61
23572516 2013
35
A genome-wide scan of selective sweeps in two broiler chicken lines divergently selected for abdominal fat content. 61
23241142 2012
36
Genotype-phenotype correlations in Bardet-Biedl syndrome. 61
22410627 2012
37
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 61
22500027 2012
38
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. 61
22228099 2012
39
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. 61
22302990 2012
40
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 61
20472660 2010
41
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. 61
19402160 2009
42
Novel interaction partners of Bardet-Biedl syndrome proteins. 61
18000879 2008
43
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. 61
19093007 2008
44
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. 61
16877420 2006
45
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. 61
16399798 2006
46
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 61
16104012 2005
47
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 61
15770229 2005
48
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 61
15666242 2005
49
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 61
15690372 2005
50
[Update on Bardet-Biedl syndrome]. 61
15767906 2005
51
A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? 61
15266619 2004
52
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. 61
15155861 2004
53
Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. 61
12872256 2003
54
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 61
12677556 2003

Variations for Bardet-Biedl Syndrome 7

ClinVar genetic disease variations for Bardet-Biedl Syndrome 7:

6 (showing 10, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BBS7 NM_176824.3(BBS7):c.968A>G (p.His323Arg)SNV Pathogenic 3015 rs119466001 4:122768628-122768628 4:121847473-121847473
2 BBS7 NM_176824.3(BBS7):c.709_712del (p.Lys237fs)deletion Pathogenic 3017 rs587777812 4:122775865-122775868 4:121854710-121854713
3 BBS7 NM_176824.3(BBS7):c.1592_1597del (p.Val531_Pro532del)deletion Pathogenic 30680 rs587777836 4:122754465-122754470 4:121833310-121833315
4 BBS7 NM_176824.3(BBS7):c.1967_1968delinsC (p.Leu656fs)indel Pathogenic 162088 rs672601379 4:122749347-122749348 4:121828192-121828193
5 BBS7 NM_176824.3(BBS7):c.389_390del (p.Asn130fs)deletion Pathogenic 216138 rs863224530 4:122780285-122780286 4:121859130-121859131
6 BBS7 NM_176824.3(BBS7):c.949C>G (p.Leu317Val)SNV Pathogenic 217436 rs869025207 4:122768647-122768647 4:121847492-121847492
7 BBS7 NM_176824.3(BBS7):c.719G>A (p.Gly240Asp)SNV Pathogenic 522733 rs761403504 4:122774241-122774241 4:121853086-121853086
8 BBS7 NM_176824.3(BBS7):c.125G>A (p.Gly42Glu)SNV Pathogenic 522666 rs1221499782 4:122784412-122784412 4:121863257-121863257
9 BBS7 NM_176824.3(BBS7):c.1891-2A>CSNV Conflicting interpretations of pathogenicity 375301 rs1057519027 4:122749426-122749426 4:121828271-121828271
10 BBS7 NM_176824.3(BBS7):c.1458C>A (p.Tyr486Ter)SNV Uncertain significance 631936 rs1470030897 4:122756352-122756352 4:121835197-121835197

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 7:

73 (showing 4, show less)
# Symbol AA change Variation ID SNP ID
1 BBS7 p.Thr211Ile VAR_017212 rs119466002
2 BBS7 p.His323Arg VAR_017213 rs119466001
3 BBS7 p.Ile66Phe VAR_038893
4 BBS7 p.Gly63Arg VAR_066286 rs754579374

Expression for Bardet-Biedl Syndrome 7

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 7.

Pathways for Bardet-Biedl Syndrome 7

Pathways related to Bardet-Biedl Syndrome 7 according to GeneCards Suite gene sharing:

(showing 6, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.08 WDR60 WDR34 TCTEX1D2 DYNLL2 BBS7
2
Show member pathways
11.43 DYNLT3 DYNLL2 DYNC1LI2
3 11.31 DYNLT3 DYNLL2 DYNC1LI2
4 11.01 DYNLL2 DYNC1LI2
5 10.77 DYNLL2 DYNC1LI2
6 10.54 WDR60 WDR34 TCTEX1D2 DYNLL2

GO Terms for Bardet-Biedl Syndrome 7

Cellular components related to Bardet-Biedl Syndrome 7 according to GeneCards Suite gene sharing:

(showing 9, show less)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.85 WDR60 WDR34 MYO9A GUCA1B BBS7
2 centrosome GO:0005813 9.77 WDR60 TCTEX1D2 DYNLL2 DYNC1LI2 BBS7
3 cilium GO:0005929 9.71 WDR60 WDR34 DYNLL2 BBS7
4 ciliary tip GO:0097542 9.5 WDR60 WDR34 DYNLL2
5 ciliary base GO:0097546 9.43 WDR60 TCTEX1D2
6 dynein complex GO:0030286 9.43 DYNLT3 DYNLL2 DYNC1LI2
7 axoneme GO:0005930 9.26 WDR34 TCTEX1D4 TCTEX1D2 BBS7
8 interphase microtubule organizing center GO:0031021 9.16 WDR60 TCTEX1D2
9 cytoplasmic dynein complex GO:0005868 9.1 WDR60 WDR34 TCTEX1D2 DYNLT3 DYNLL2 DYNC1LI2

Biological processes related to Bardet-Biedl Syndrome 7 according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.56 RGS9BP MYO9A GUCA1B BBS7
2 microtubule-based movement GO:0007018 9.5 WDR60 WDR34 DYNC1LI2
3 cilium assembly GO:0060271 9.26 WDR60 WDR34 TCTEX1D2 BBS7
4 positive regulation of ATP-dependent microtubule motor activity, plus-end-directed GO:2000582 9.16 WDR60 DYNLL2
5 intraciliary transport involved in cilium assembly GO:0035735 8.8 WDR60 WDR34 DYNLL2

Molecular functions related to Bardet-Biedl Syndrome 7 according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 9.43 MYO9A DYNLT3 DYNC1LI2
2 dynein intermediate chain binding GO:0045505 9.32 TCTEX1D2 DYNLL2
3 dynein light chain binding GO:0045503 9.16 WDR60 WDR34
4 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.13 WDR60 WDR34 DYNLL2
5 dynein heavy chain binding GO:0045504 8.8 WDR60 WDR34 DYNC1LI2

Sources for Bardet-Biedl Syndrome 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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