Bardet-Biedl Syndrome 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Bardet-Biedl Syndrome 11

MalaCards integrated aliases for Bardet-Biedl Syndrome 11:

Name: Bardet-Biedl Syndrome 11 ⁵⁶ ¹² ⁵² ⁷³ ²⁹ ⁶ ¹⁵ ⁷¹

Bbs11 ⁵⁶ ¹² ⁵² ⁷³

Bardet-Biedl Syndrome ⁵² ⁷¹

Bardet-Biedl Syndrome, Type 11 ³⁹

Bbs ⁵²

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported with limited clinical information (last curated october 2014)

HPO:

³¹

bardet-biedl syndrome 11:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Eye diseases Gastrointestinal diseases Nephrological diseases Reproductive diseases Endocrine diseases Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0110133

OMIM ⁵⁶ 615988

OMIM Phenotypic Series ⁵⁶ PS209900

MeSH ⁴³ D020788

ICD10 ³² Q87.89

MedGen ⁴¹ C1859569

SNOMED-CT via HPO ⁶⁸ 258211005 29555009 367506006 more

UMLS ⁷¹ C0752166 C1859569

Sources

Summaries for Bardet-Biedl Syndrome 11

UniProtKB/Swiss-Prot : ⁷³ Bardet-Biedl syndrome 11: 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 11, also known as bbs11, is related to bardet-biedl syndrome 12 and bardet-biedl syndrome 2. An important gene associated with Bardet-Biedl Syndrome 11 is TRIM32 (Tripartite Motif Containing 32), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Hormone Antagonists and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and liver, and related phenotypes are obesity and retinopathy

Disease Ontology : ¹² A Bardet-Biedl syndrome that has material basis in mutation in the TRIM32 gene on chromosome 9q33.

OMIM : ⁵⁶ BBS11 was diagnosed in members of a single Israeli Bedouin family based on the presence of at least 3 of the following features: obesity, polydactyly, renal anomalies, retinopathy, hypogonadism, and learning disabilities (Chiang et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615988)

Sources

Related Diseases for Bardet-Biedl Syndrome 11

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

(show top 50) (show all 689)

#	Related Disease	Score	Top Affiliating Genes
1	bardet-biedl syndrome 12	34.9	WDPCP BBS12
2	bardet-biedl syndrome 2	34.8	MKKS BBS2
3	bardet-biedl syndrome 10	33.9	BBS7 BBS4 BBS2 BBS12 BBS10 BBS1
4	laurence-moon syndrome	33.1	MKKS BBS5 BBS2
5	mckusick-kaufman syndrome	32.1	MKKS BBS7 BBS4 BBS2 BBS12 BBS1
6	bardet-biedl syndrome 19	32.0	WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
7	ciliopathy	31.6	SDCCAG8 BBS7 BBS1
8	inherited retinal disorder	31.6	BBS2 BBS10 BBS1
9	bardet-biedl syndrome 1	31.3	WDPCP MKKS LZTFL1 BBS9 BBS7 BBS4
10	retinal degeneration	30.8	MKKS BBS7 BBS4 BBS10 BBS1
11	bardet-biedl syndrome 17	30.8	WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
12	bardet-biedl syndrome 13	30.6	WDPCP TTC8 TRIM32 SDCCAG8 MKS1 BBS9
13	bardet-biedl syndrome 15	30.5	WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
14	nonsyndromic retinitis pigmentosa	30.5	TTC8 BBS2 BBS1
15	chromosome 2q35 duplication syndrome	30.2	WDPCP MKKS BBS2 BBS10 BBS1
16	bardet-biedl syndrome 18	30.1	WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
17	bardet-biedl syndrome 16	29.9	WDPCP TTC8 SDCCAG8 MKS1 LZTFL1 BBS9
18	cystic kidney disease	29.8	MKS1 BBS4 BBS2 BBS1
19	nephronophthisis 2	29.7	SDCCAG8 MKS1 BBS1
20	alstrom syndrome	29.7	MKKS BBS7 BBS5 BBS2 BBS10 BBS1
21	coloboma of macula	29.6	SDCCAG8 MKS1 BBS2
22	bardet-biedl syndrome 3	29.4	WDPCP TTC8 TRIM32 MKS1 MKKS LZTFL1
23	bardet-biedl syndrome 8	29.4	WDPCP TTC8 TRIM32 MKS1 MKKS LZTFL1
24	visceral heterotaxy	29.3	MKS1 BBS7 BBS4 BBS2 BBS1
25	nephronophthisis	29.2	SDCCAG8 MKS1 BBS7 BBS5 BBS4 BBS2
26	primary ciliary dyskinesia	29.1	SDCCAG8 MKS1 BBS4 BBS2 BBS1
27	bardet-biedl syndrome 14	28.8	WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
28	retinal disease	28.8	TTC8 MKKS BBS9 BBS7 BBS5 BBS4
29	bardet-biedl syndrome 6	28.8	WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
30	body mass index quantitative trait locus 11	28.7	TTC8 MKKS BBS4 BBS2 BBS1 BBIP1
31	kartagener syndrome	28.2	SDCCAG8 MKS1 BBS4 BBS2 BBS1
32	fundus dystrophy	28.1	TTC8 SDCCAG8 MKS1 MKKS BBS9 BBS7
33	senior-loken syndrome 1	28.0	SDCCAG8 MKS1 MKKS BBS4 BBS2 BBS12
34	leber congenital amaurosis	27.5	TTC8 SDCCAG8 MKS1 MKKS BBS5 BBS4
35	polydactyly	27.0	TTC8 MKS1 MKKS LZTFL1 BBS7 BBS4
36	meckel syndrome, type 1	27.0	WDPCP SDCCAG8 MKS1 MKKS BBS9 BBS7
37	joubert syndrome 1	26.6	WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
38	retinitis pigmentosa	24.4	WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
39	bardet-biedl syndrome	24.2	WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
40	bardet-biedl syndrome 4	13.1
41	bardet-biedl syndrome 5	13.1
42	bardet-biedl syndrome 7	13.1
43	bardet-biedl syndrome 9	13.1
44	bardet-biedl syndrome 20	13.0
45	bardet-biedl syndrome 21	13.0
46	vaginal atresia	11.9
47	mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	11.7
48	nijmegen breakage syndrome	11.3
49	neuroretinitis	11.2
50	retinitis	11.2

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 11:

Sources

Symptoms & Phenotypes for Bardet-Biedl Syndrome 11

Human phenotypes related to Bardet-Biedl Syndrome 11:

³¹

#	Description	HPO Source Accession
1	obesity ³¹	HP:0001513
2	retinopathy ³¹	HP:0000488
3	hypogonadism ³¹	HP:0000135
4	abnormality of the kidney ³¹	HP:0000077
5	polydactyly ³¹	HP:0010442

Symptoms via clinical synopsis from OMIM:

⁵⁶

Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism

Skeletal Feet:
polydactyly

Genitourinary Kidneys:
renal anomalies

Head And Neck Eyes:
retinopathy

Skeletal Hands:
polydactyly

Neurologic Central Nervous System:
learning disabilities

Clinical features from OMIM:

615988

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 11:

⁴⁵ (show all 14)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.38	BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
2	cellular	MP:0005384	10.25	BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
3	nervous system	MP:0003631	10.24	BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
4	behavior/neurological	MP:0005386	10.22	BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
5	homeostasis/metabolism	MP:0005376	10.17	BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
6	adipose tissue	MP:0005375	10.14	BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
7	craniofacial	MP:0005382	10.1	BBS1 BBS4 BBS7 MKKS MKS1 SDCCAG8
8	limbs/digits/tail	MP:0005371	10.06	BBS1 BBS2 BBS5 BBS7 BBS9 MKKS
9	renal/urinary system	MP:0005367	10.02	BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
10	reproductive system	MP:0005389	9.86	BBIP1 BBS1 BBS2 BBS4 BBS7 MKKS
11	hearing/vestibular/ear	MP:0005377	9.85	BBS1 BBS4 MKKS MKS1 WDPCP
12	respiratory system	MP:0005388	9.63	BBS1 BBS4 MKKS MKS1 TTC8 WDPCP
13	vision/eye	MP:0005391	9.47	BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
14	taste/olfaction	MP:0005394	9.43	BBS1 BBS2 BBS4 BBS7 MKKS TTC8

Sources

Drugs & Therapeutics for Bardet-Biedl Syndrome 11

Drugs for Bardet-Biedl Syndrome 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Hormone Antagonists		Phase 2, Phase 3
2	alpha-MSH		Phase 2, Phase 3		581-05-5
3	Hormones		Phase 2, Phase 3
4	Insulin, Globin Zinc
5	insulin

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Setmelanotide (RM-493) Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity	Recruiting	NCT03013543	Phase 2, Phase 3	Setmelanotide
2	A Phase 3 Trial of Setmelanotide (RM-493), a Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity	Recruiting	NCT03746522	Phase 3	Setmelanotide;Placebos
3	Treatment of Infantile and Juvenile Patients With Bardet-Biedl-Syndrome With Metformin. Evaluation of a Visual Improvement as a Side Effect of the Pediatric Treatment of Adipositas - a Prospective Pilot Study Without Control	Withdrawn	NCT03490019	Phase 2	Metformin
4	Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults	Completed	NCT00213811
5	Genetic and Clinical Studies of Congenital Anomaly Syndromes	Completed	NCT00001404
6	Clinical Registry Investigating Bardet-Biedl Syndrome	Recruiting	NCT02329210
7	Foundation Fighting Blindness Registry, My Retina Tracker	Recruiting	NCT02435940
8	Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing	Recruiting	NCT02510989
9	Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (Hepato/Renal Fibrocystic Diseases Core Center (UAB HFRDCC))	Recruiting	NCT01401998
10	Bardet-Biedl Syndrome: Phenotype and Metabolic Characteristics	Terminated	NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome 11

Sources

Genetic Tests for Bardet-Biedl Syndrome 11

Genetic tests related to Bardet-Biedl Syndrome 11:

#	Genetic test	Affiliating Genes
1	Bardet-Biedl Syndrome 11 ²⁹	TRIM32

Sources

Anatomical Context for Bardet-Biedl Syndrome 11

MalaCards organs/tissues related to Bardet-Biedl Syndrome 11:

⁴⁰

Kidney, Heart, Liver, Prostate, Bone, Brain, Lung

Sources

Publications for Bardet-Biedl Syndrome 11

Articles related to Bardet-Biedl Syndrome 11:

(show all 15)

#	Title	Authors	PMID	Year
1	Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). ⁶¹ ⁵⁶ ⁶	Chiang AP...Sheffield VC	16606853	2006
2	Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. ⁶¹ ⁶	Saccone V...Nigro V	17994549	2008
3	Bardet-Biedl Syndrome ⁶¹ ⁶	Forsythe E...Beales PL	20301537	2003
4	Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. ⁶	Badano JL...Katsanis N	12567324	2003
5	Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. ⁶¹	Chandrasekar SP...Sarangapani S	29806606	2018
6	USP9X counteracts differential ubiquitination of NPHP5 by MARCH7 and BBS11 to regulate ciliogenesis. ⁶¹	Das A...Tsang WY	28498859	2017
7	Interaction with the Bardet-Biedl gene product TRIM32/BBS11 modifies the half-life and localization of Glis2/NPHP7. ⁶¹	Ramachandran H...Walz G	24500717	2014
8	Common FSNP variants of fourteen Bardet-Biedl syndrome genes and adult body mass. ⁶¹	Birk RZ...Livshits G	23404957	2013
9	Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. ⁶¹	Chen J...Hejtmancik JF	21642631	2011
10	Limb-girdle muscular dystrophy 2H and the role of TRIM32. ⁶¹	Shieh PB...Spencer MJ	21496629	2011
11	Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. ⁶¹	Muller J...Dollfus H	20177705	2010
12	TRIM32 is an E3 ubiquitin ligase for dysbindin. ⁶¹	Locke M...Blake DJ	19349376	2009
13	Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. ⁶¹	Cossee M...Mandel JL	19303295	2009
14	The zebrafish model: use in studying cellular mechanisms for a spectrum of clinical disease entities. ⁶¹	Hsu CH...Chakraborty C	17504209	2007
15	Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. ⁶¹	Forti E...Birk RZ	17379567	2007

Sources

Genes for Bardet-Biedl Syndrome 11

Genes related to Bardet-Biedl Syndrome 11 (1 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TRIM32	Tripartite Motif Containing 32	Protein Coding	1376.88	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	20301537 17994549 16606853
2	BBS12	Bardet-Biedl Syndrome 12	Protein Coding	8.47	DISEASES inferred ¹⁵
3	BBS7	Bardet-Biedl Syndrome 7	Protein Coding	8.4	DISEASES inferred ¹⁵
4	BBS5	Bardet-Biedl Syndrome 5	Protein Coding	8.39	DISEASES inferred ¹⁵
5	BBS10	Bardet-Biedl Syndrome 10	Protein Coding	8.38	DISEASES inferred ¹⁵
6	ASTN2	Astrotactin 2	Protein Coding	8.36	GeneCards inferred via : Variants (show sections)
7	BBS9	Bardet-Biedl Syndrome 9	Protein Coding	8.24	DISEASES inferred ¹⁵
8	BBS1	Bardet-Biedl Syndrome 1	Protein Coding	8.21	DISEASES inferred ¹⁵
9	BBS4	Bardet-Biedl Syndrome 4	Protein Coding	8.2	DISEASES inferred ¹⁵
10	TTC8	Tetratricopeptide Repeat Domain 8	Protein Coding	8.14	DISEASES inferred ¹⁵
11	BBS2	Bardet-Biedl Syndrome 2	Protein Coding	7.9	DISEASES inferred ¹⁵
12	MKKS	McKusick-Kaufman Syndrome	Protein Coding	7.84	DISEASES inferred ¹⁵
13	WDPCP	WD Repeat Containing Planar Cell Polarity Effector	Protein Coding	7.62	DISEASES inferred ¹⁵
14	SDCCAG8	Serologically Defined Colon Cancer Antigen 8	Protein Coding	7.54	DISEASES inferred ¹⁵
15	MKS1	MKS Transition Zone Complex Subunit 1	Protein Coding	7.52	DISEASES inferred ¹⁵
16	LZTFL1	Leucine Zipper Transcription Factor Like 1	Protein Coding	7.5	DISEASES inferred ¹⁵
17	BBIP1	BBSome Interacting Protein 1	Protein Coding	7.4	DISEASES inferred ¹⁵

Sources

Variations for Bardet-Biedl Syndrome 11

ClinVar genetic disease variations for Bardet-Biedl Syndrome 11:

⁶ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TRIM32	NM_012210.3(TRIM32):c.388C>T (p.Pro130Ser)	SNV	Pathogenic	7351	rs111033571	9:119460409-119460409	9:116698130-116698130
2	TRIM32	NM_012210.3(TRIM32):c.1222C>T (p.Arg408Cys)	SNV	Conflicting interpretations of pathogenicity	100583	rs3747835	9:119461243-119461243	9:116698964-116698964
3	TRIM32	NM_012210.3(TRIM32):c.404C>T (p.Thr135Ile)	SNV	Uncertain significance	288372	rs141953092	9:119460425-119460425	9:116698146-116698146
4	TRIM32	NM_012210.3(TRIM32):c.1168C>T (p.Arg390Cys)	SNV	Uncertain significance	451845	rs754554333	9:119461189-119461189	9:116698910-116698910

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 11:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	TRIM32	p.Pro130Ser	VAR_038807	rs111033571

Sources

Expression for Bardet-Biedl Syndrome 11

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 11.

Sources

Pathways for Bardet-Biedl Syndrome 11

Pathways related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Organelle biogenesis and maintenance ⁶⁵ Show member pathways Cilium Assembly ⁶⁵	12.2	TTC8 SDCCAG8 MKS1 MKKS LZTFL1 BBS9
2	Cargo trafficking to the periciliary membrane ⁶⁵ Show member pathways ARL13B-mediated ciliary trafficking of INPP5E ⁶⁵ BBSome-mediated cargo-targeting to cilium ⁶⁵ Trafficking of myristoylated proteins to the cilium ⁶⁵ VxPx cargo-targeting to cilium ⁶⁵	11.76	TTC8 MKKS LZTFL1 BBS9 BBS7 BBS5

Sources

GO Terms for Bardet-Biedl Syndrome 11

Cellular components related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.33	WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
2	cytosol	GO:0005829	10.32	TTC8 TRIM32 SDCCAG8 MKS1 MKKS LZTFL1
3	cytoskeleton	GO:0005856	10.14	WDPCP TTC8 SDCCAG8 MKS1 MKKS BBS9
4	microtubule organizing center	GO:0005815	10.07	TTC8 SDCCAG8 MKS1 MKKS BBS9 BBS7
5	cell projection	GO:0042995	10.07	WDPCP TTC8 SDCCAG8 MKS1 BBS9 BBS7
6	cell	GO:0005623	10.01	TRIM32 MKKS BBS7 BBS5 BBS4 BBS2
7	centrosome	GO:0005813	9.98	TTC8 SDCCAG8 MKS1 MKKS BBS7 BBS4
8	ciliary membrane	GO:0060170	9.87	TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
9	ciliary basal body	GO:0036064	9.81	TTC8 SDCCAG8 MKS1 MKKS BBS7 BBS5
10	axoneme	GO:0005930	9.8	WDPCP BBS7 BBS5 BBS1
11	centriolar satellite	GO:0034451	9.78	SDCCAG8 BBS9 BBS5 BBS4
12	centriole	GO:0005814	9.74	SDCCAG8 MKS1 BBS4
13	motile cilium	GO:0031514	9.73	MKKS BBS4 BBS2
14	ciliary transition zone	GO:0035869	9.7	MKS1 BBS9 BBS4
15	non-motile cilium	GO:0097730	9.58	TTC8 BBS4
16	BBSome	GO:0034464	9.56	TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
17	pericentriolar material	GO:0000242	9.55	BBS9 BBS4
18	cilium	GO:0005929	9.4	WDPCP TTC8 MKS1 BBS9 BBS7 BBS5

Biological processes related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

(show all 40)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein transport	GO:0015031	10.09	TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
2	response to stimulus	GO:0050896	10.06	MKKS BBS9 BBS7 BBS5 BBS4 BBS2
3	sensory perception of smell	GO:0007608	9.98	TTC8 MKKS BBS4 BBS1
4	visual perception	GO:0007601	9.97	MKKS BBS9 BBS7 BBS5 BBS4 BBS2
5	heart looping	GO:0001947	9.86	MKKS BBS7 BBS5 BBS4
6	protein localization	GO:0008104	9.83	BBS7 BBS4 BBS2
7	cerebral cortex development	GO:0021987	9.82	MKKS BBS4 BBS2
8	determination of left/right symmetry	GO:0007368	9.81	MKS1 MKKS BBS7
9	hippocampus development	GO:0021766	9.81	MKKS BBS4 BBS2
10	smoothened signaling pathway	GO:0007224	9.8	WDPCP MKS1 BBS7
11	negative regulation of GTPase activity	GO:0034260	9.8	TTC8 MKKS BBS4
12	intracellular transport	GO:0046907	9.8	MKKS BBS7 BBS5 BBS4
13	melanosome transport	GO:0032402	9.8	MKKS BBS7 BBS5 BBS4 BBS2
14	photoreceptor cell maintenance	GO:0045494	9.8	MKKS BBS4 BBS2 BBS12 BBS10 BBS1
15	fat cell differentiation	GO:0045444	9.8	TTC8 TRIM32 MKKS BBS9 BBS7 BBS4
16	retina homeostasis	GO:0001895	9.79	BBS4 BBS10 BBS1
17	positive regulation of multicellular organism growth	GO:0040018	9.78	MKKS BBS4 BBS2
18	protein localization to cilium	GO:0061512	9.77	BBS9 BBS4 BBS1
19	brain morphogenesis	GO:0048854	9.76	MKKS BBS4 BBS2
20	non-motile cilium assembly	GO:1905515	9.76	TTC8 MKS1 MKKS BBS7 BBS4 BBS2
21	chaperone-mediated protein complex assembly	GO:0051131	9.75	MKKS BBS12 BBS10
22	regulation of stress fiber assembly	GO:0051492	9.74	TTC8 MKKS BBS4
23	striatum development	GO:0021756	9.72	MKKS BBS4 BBS2
24	response to leptin	GO:0044321	9.71	MKKS BBS4 BBS2
25	leptin-mediated signaling pathway	GO:0033210	9.7	MKKS BBS4 BBS2
26	cilium assembly	GO:0060271	9.7	WDPCP TTC8 MKS1 MKKS BBS9 BBS7
27	regulation of cilium beat frequency involved in ciliary motility	GO:0060296	9.69	MKKS BBS4 BBS2
28	Golgi to plasma membrane protein transport	GO:0043001	9.68	BBS2 BBS1
29	adult behavior	GO:0030534	9.68	BBS4 BBS2
30	inner ear receptor cell stereocilium organization	GO:0060122	9.67	TTC8 MKS1
31	motile cilium assembly	GO:0044458	9.67	MKS1 BBS5
32	face development	GO:0060324	9.67	MKKS BBS4
33	vasodilation	GO:0042311	9.66	MKKS BBS2
34	protein localization to organelle	GO:0033365	9.66	BBS4 BBS2
35	negative regulation of actin filament polymerization	GO:0030837	9.65	MKKS BBS4
36	artery smooth muscle contraction	GO:0014824	9.65	MKKS BBS2
37	negative regulation of appetite by leptin-mediated signaling pathway	GO:0038108	9.65	MKKS BBS4 BBS2
38	sensory processing	GO:0050893	9.61	TTC8 BBS4
39	pigment granule aggregation in cell center	GO:0051877	9.59	MKKS BBS7
40	cell projection organization	GO:0030030	9.36	WDPCP TTC8 SDCCAG8 MKS1 BBS9 BBS7

Molecular functions related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.89	WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
2	RNA polymerase II repressing transcription factor binding	GO:0001103	9.23	TTC8 MKKS BBS7 BBS5 BBS4 BBS2

Sources

Sources for Bardet-Biedl Syndrome 11

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Bardet-Biedl Syndrome 11 (BBS11)

Aliases & Classifications for Bardet-Biedl Syndrome 11

MalaCards integrated aliases for Bardet-Biedl Syndrome 11:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Bardet-Biedl Syndrome 11

Related Diseases for Bardet-Biedl Syndrome 11

Diseases in the Bardet-Biedl Syndrome family:

Diseases related to Bardet-Biedl Syndrome 11 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 11:

Symptoms & Phenotypes for Bardet-Biedl Syndrome 11

Human phenotypes related to Bardet-Biedl Syndrome 11:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome 11:

Drugs & Therapeutics for Bardet-Biedl Syndrome 11

Drugs for Bardet-Biedl Syndrome 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Bardet-Biedl Syndrome 11

Genetic tests related to Bardet-Biedl Syndrome 11:

Anatomical Context for Bardet-Biedl Syndrome 11

MalaCards organs/tissues related to Bardet-Biedl Syndrome 11:

Publications for Bardet-Biedl Syndrome 11

Articles related to Bardet-Biedl Syndrome 11:

Genes for Bardet-Biedl Syndrome 11

Genes related to Bardet-Biedl Syndrome 11 (1 elite genes):

Variations for Bardet-Biedl Syndrome 11

ClinVar genetic disease variations for Bardet-Biedl Syndrome 11:

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 11:

Expression for Bardet-Biedl Syndrome 11

Pathways for Bardet-Biedl Syndrome 11

Pathways related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

GO Terms for Bardet-Biedl Syndrome 11

Cellular components related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

Biological processes related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

Molecular functions related to Bardet-Biedl Syndrome 11 according to GeneCards Suite gene sharing:

Sources for Bardet-Biedl Syndrome 11