BBS7
MCID: BRD019
MIFTS: 37

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 57 12 53 74 29 6 15 17 72
Bbs7 57 12 74
Bardet-Biedl Syndrome, Type 7 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
limited clinical information provided on patients with bbs7 mutations


HPO:

32
bardet-biedl syndrome 7:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110129
MeSH 44 D020788
ICD10 33 Q87.89
MedGen 42 C1859565
UMLS 72 C1859565

Summaries for Bardet-Biedl Syndrome 7

UniProtKB/Swiss-Prot : 74 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 mckusick-kaufman syndrome. 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 Cargo trafficking to the periciliary membrane. 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 : 57 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:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 32.1 BBS7 BBS12
2 mckusick-kaufman syndrome 31.2 BBS7 BBS12
3 ciliopathy 11.7
4 retinal degeneration 11.7
5 bardet-biedl syndrome 1 11.6
6 bardet-biedl syndrome 8 11.6
7 bardet-biedl syndrome 17 11.6
8 bardet-biedl syndrome 3 11.6
9 bardet-biedl syndrome 18 11.6
10 tetralogy of fallot 11.3
11 nephrotic syndrome, type 1 11.3
12 polydactyly 10.3
13 retinitis pigmentosa 10.3
14 bardet-biedl syndrome 2 10.3
15 bardet-biedl syndrome 4 10.3
16 bardet-biedl syndrome 12 10.3
17 polydactyly, postaxial, type a1 10.2
18 bardet-biedl syndrome 5 10.2
19 bardet-biedl syndrome 9 10.2
20 bardet-biedl syndrome 10 10.2
21 neuroretinitis 10.2
22 retinitis 10.2
23 hydrocephalus, congenital, 1 10.0
24 nephronophthisis 1 10.0
25 bardet-biedl syndrome 6 10.0
26 bardet-biedl syndrome 11 10.0
27 bardet-biedl syndrome 13 10.0
28 bardet-biedl syndrome 14 10.0
29 bardet-biedl syndrome 15 10.0
30 bardet-biedl syndrome 16 10.0
31 bardet-biedl syndrome 19 10.0
32 bardet-biedl syndrome 20 10.0
33 bardet-biedl syndrome 21 10.0
34 autosomal recessive disease 10.0
35 cone dystrophy 10.0
36 male infertility 10.0
37 fundus dystrophy 10.0
38 inherited retinal disorder 10.0

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:

32
# Description HPO Frequency HPO Source Accession
1 obesity 32 HP:0001513
2 intellectual disability 32 HP:0001249
3 rod-cone dystrophy 32 HP:0000510
4 polydactyly 32 HP:0010442
5 external genital hypoplasia 32 HP:0003241

Symptoms via clinical synopsis from OMIM:

57
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

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.62 BBS12 BBS7

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:

41
Heart, Testes, Prostate

Publications for Bardet-Biedl Syndrome 7

Articles related to Bardet-Biedl Syndrome 7:

(show all 49)
# Title Authors PMID Year
1
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 38 8 71
12567324 2003
2
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 8 71
21937992 2011
3
Bardet-Biedl Syndrome 38 71
20301537 2003
4
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 8
19797195 2010
5
Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 8
19252258 2009
6
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. 38
31283077 2019
7
Exome-wide rare loss-of-function variant enrichment study of 21,347 Han Chinese individuals identifies four susceptibility genes for psoriasis. 38
31376382 2019
8
Pectoral Fin Anomalies in tbx5a Knockdown Zebrafish Embryos Related to the Cascade Effect of N-Cadherin and Extracellular Matrix Formation. 38
31336923 2019
9
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome. 38
30839500 2019
10
[Progress of research on Bardet-Biedl syndrome]. 38
29653013 2018
11
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. 38
29590217 2018
12
Application of Whole Genome Sequencing Technology in the Investigation of Genetic Causes of Fetal, Perinatal, and Early Infant Death. 38
28641477 2018
13
Primary Cilium Formation and Ciliary Protein Trafficking Is Regulated by the Atypical MAP Kinase MAPK15 in Caenorhabditis elegans and Human Cells. 38
29021280 2017
14
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. 38
28370415 2017
15
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 38
28761321 2017
16
Fine mapping a major obesity locus (jObes1) using a Berlin Fat Mouse × B6N advanced intercross population. 38
27538457 2016
17
Expansion of phenotype and genotypic data in CRB2-related syndrome. 38
27004616 2016
18
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 38
27486776 2016
19
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. 38
26518167 2015
20
Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7. 38
26557828 2015
21
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. 38
25937446 2015
22
Preclinical pharmacokinetic, biodistribution, imaging and therapeutic efficacy of (177)Lu-Labeled glycated bombesin analogue for gastrin-releasing peptide receptor-positive prostate tumor targeting. 38
25498002 2015
23
Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome. 38
25553308 2015
24
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan. 38
26325687 2015
25
Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms. 38
24938409 2014
26
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes. 38
24849935 2014
27
[Using exon combined target region capture sequencing chip to detect the disease-causing genes of retinitis pigmentosa]. 38
25241976 2014
28
The nucleotide-binding proteins Nubp1 and Nubp2 are negative regulators of ciliogenesis. 38
23807208 2014
29
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking. 38
23572516 2013
30
A genome-wide scan of selective sweeps in two broiler chicken lines divergently selected for abdominal fat content. 38
23241142 2012
31
Genotype-phenotype correlations in Bardet-Biedl syndrome. 38
22410627 2012
32
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. 38
22500027 2012
33
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. 38
22228099 2012
34
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. 38
22302990 2012
35
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 38
20472660 2010
36
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. 38
19402160 2009
37
Novel interaction partners of Bardet-Biedl syndrome proteins. 38
18000879 2008
38
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. 38
19093007 2008
39
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. 38
16877420 2006
40
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function. 38
16399798 2006
41
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome. 38
16104012 2005
42
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 38
15770229 2005
43
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. 38
15666242 2005
44
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. 38
15690372 2005
45
[Update on Bardet-Biedl syndrome]. 38
15767906 2005
46
A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? 38
15266619 2004
47
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome. 38
15155861 2004
48
Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. 38
12872256 2003
49
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 38
12677556 2003

Variations for Bardet-Biedl Syndrome 7

ClinVar genetic disease variations for Bardet-Biedl Syndrome 7:

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

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

74
# 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.68 BBS7 BBS12
2
Show member pathways
10.65 BBS7 BBS12

GO Terms for Bardet-Biedl Syndrome 7

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 8.96 BBS7 BBS12
2 cilium GO:0005929 8.62 BBS7 BBS12

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 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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