BBS7
MCID: BRD019
MIFTS: 30

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 75 29 6 15 73
Bbs7 57 12 75
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:

OMIM 57 615984
Disease Ontology 12 DOID:0110129
ICD10 33 Q87.89
MedGen 42 C1859565
MeSH 44 D020788
UMLS 73 C1859565

Summaries for Bardet-Biedl Syndrome 7

UniProtKB/Swiss-Prot : 75 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 and eye, 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

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

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

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 external genital hypoplasia 32 HP:0003241
5 polydactyly 32 HP:0010442

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, Eye

Publications for Bardet-Biedl Syndrome 7

Articles related to Bardet-Biedl Syndrome 7:

# Title Authors Year
1
Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms. ( 24938409 )
2014

Variations for Bardet-Biedl Syndrome 7

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

75
# 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

ClinVar genetic disease variations for Bardet-Biedl Syndrome 7:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS7 NM_176824.2(BBS7): c.968A> G (p.His323Arg) single nucleotide variant Pathogenic rs119466001 GRCh37 Chromosome 4, 122768628: 122768628
2 BBS7 NM_176824.2(BBS7): c.968A> G (p.His323Arg) single nucleotide variant Pathogenic rs119466001 GRCh38 Chromosome 4, 121847473: 121847473
3 BBS7 NM_176824.2(BBS7): c.709_712delAAGA (p.Lys237Glufs) deletion Pathogenic rs587777812 GRCh38 Chromosome 4, 121854710: 121854713
4 BBS7 NM_176824.2(BBS7): c.709_712delAAGA (p.Lys237Glufs) deletion Pathogenic rs587777812 GRCh37 Chromosome 4, 122775865: 122775868
5 BBS7 NM_176824.2(BBS7): c.1592_1597delTTCCAG (p.Val531_Pro532del) deletion Pathogenic rs587777836 GRCh37 Chromosome 4, 122754465: 122754470
6 BBS7 NM_176824.2(BBS7): c.1592_1597delTTCCAG (p.Val531_Pro532del) deletion Pathogenic rs587777836 GRCh38 Chromosome 4, 121833310: 121833315
7 BBS7 NM_176824.2(BBS7): c.1967_1968delTAinsC (p.Leu656Profs) indel Pathogenic rs672601379 GRCh38 Chromosome 4, 121828192: 121828193
8 BBS7 NM_176824.2(BBS7): c.1967_1968delTAinsC (p.Leu656Profs) indel Pathogenic rs672601379 GRCh37 Chromosome 4, 122749347: 122749348
9 BBS7 NM_176824.2(BBS7): c.389_390delAC (p.Asn130Thrfs) deletion Pathogenic rs863224530 GRCh37 Chromosome 4, 122780285: 122780286
10 BBS7 NM_176824.2(BBS7): c.389_390delAC (p.Asn130Thrfs) deletion Pathogenic rs863224530 GRCh38 Chromosome 4, 121859130: 121859131
11 BBS7 NM_176824.2(BBS7): c.949C> G (p.Leu317Val) single nucleotide variant Pathogenic rs869025207 GRCh37 Chromosome 4, 122768647: 122768647
12 BBS7 NM_176824.2(BBS7): c.949C> G (p.Leu317Val) single nucleotide variant Pathogenic rs869025207 GRCh38 Chromosome 4, 121847492: 121847492
13 BBS7 NM_176824.2(BBS7): c.712_715delAGAG (p.Arg238Glufs) deletion Pathogenic rs760165634 GRCh37 Chromosome 4, 122775862: 122775865
14 BBS7 NM_176824.2(BBS7): c.712_715delAGAG (p.Arg238Glufs) deletion Pathogenic rs760165634 GRCh38 Chromosome 4, 121854707: 121854710
15 BBS7 NM_176824.2(BBS7): c.1062_1063delTA (p.Tyr354Terfs) deletion Pathogenic rs773139166 GRCh37 Chromosome 4, 122766826: 122766827
16 BBS7 NM_176824.2(BBS7): c.1062_1063delTA (p.Tyr354Terfs) deletion Pathogenic rs773139166 GRCh38 Chromosome 4, 121845671: 121845672
17 BBS7 NM_176824.2(BBS7): c.649dupG (p.Ala217Glyfs) duplication Pathogenic rs886044668 GRCh37 Chromosome 4, 122775928: 122775928
18 BBS7 NM_176824.2(BBS7): c.649dupG (p.Ala217Glyfs) duplication Pathogenic rs886044668 GRCh38 Chromosome 4, 121854773: 121854773
19 BBS7 NM_176824.2(BBS7): c.1891-2A> C single nucleotide variant Likely pathogenic rs1057519027 GRCh38 Chromosome 4, 121828271: 121828271
20 BBS7 NM_176824.2(BBS7): c.1891-2A> C single nucleotide variant Likely pathogenic rs1057519027 GRCh37 Chromosome 4, 122749426: 122749426
21 BBS7 NM_018190.3(BBS7): c.719G> A (p.Gly240Asp) single nucleotide variant Pathogenic rs761403504 GRCh37 Chromosome 4, 122774241: 122774241
22 BBS7 NM_018190.3(BBS7): c.719G> A (p.Gly240Asp) single nucleotide variant Pathogenic rs761403504 GRCh38 Chromosome 4, 121853086: 121853086
23 BBS7 NM_018190.3(BBS7): c.125G> A (p.Gly42Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 122784412: 122784412
24 BBS7 NM_018190.3(BBS7): c.125G> A (p.Gly42Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 121863257: 121863257

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 BBS12 BBS7
2
Show member pathways
10.65 BBS12 BBS7

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 BBS12 BBS7
2 cilium GO:0005929 8.62 BBS12 BBS7

Sources for Bardet-Biedl Syndrome 7

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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