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BBS11
MCID: BRD012
MIFTS: 51

Bardet-Biedl Syndrome 11 (BBS11)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Bardet-Biedl Syndrome 11

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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 Metabolic diseases Fetal diseases
Anatomical: Nephrological diseases Eye diseases Gastrointestinal 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
UMLS 71 C0752166 C1859569
Sources

Summaries for Bardet-Biedl Syndrome 11

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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 Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include heart, retina and kidney, and related phenotypes are retinopathy and obesity

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)

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Related Diseases for Bardet-Biedl Syndrome 11

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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 704)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 12 35.0 WDPCP BBS12
2 bardet-biedl syndrome 2 35.0 MKKS BBS2
3 bardet-biedl syndrome 9 34.9 TTC8 BBS9
4 bardet-biedl syndrome 10 34.3 BBS4 BBS2 BBS12 BBS10 BBS1
5 ciliopathy 31.8 SDCCAG8 BBS7 BBS1
6 bardet-biedl syndrome 1 31.6 WDPCP MKKS LZTFL1 BBS9 BBS7 BBS4
7 bardet-biedl syndrome 15 31.6 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
8 bardet-biedl syndrome 19 31.5 WDPCP TTC8 LZTFL1 BBS9 BBS7 BBS5
9 mckusick-kaufman syndrome 31.4 TTC8 MKKS BBS7 BBS5 BBS4 BBS2
10 retinitis pigmentosa 74 30.6 TTC8 BBS2
11 nonsyndromic retinitis pigmentosa 30.6 TTC8 BBS2 BBS1
12 retinal degeneration 30.5 MKKS CEP290 BBS7 BBS4 BBS10 BBS1
13 bardet-biedl syndrome 17 30.4 WDPCP TTC8 MKS1 LZTFL1 BBS9 BBS7
14 encephalocele 30.3 MKS1 CEP290
15 pathologic nystagmus 30.3 WDPCP MKS1 CEP290
16 bardet-biedl syndrome 16 30.3 WDPCP TTC8 SDCCAG8 MKS1 LZTFL1 BBS9
17 bardet-biedl syndrome 13 30.1 WDPCP TTC8 TRIM32 MKS1 CEP290 BBS9
18 meckel syndrome, type 3 30.0 MKS1 CEP290 BBS1
19 meckel syndrome, type 4 29.9 MKS1 CEP290
20 bardet-biedl syndrome 18 29.8 WDPCP TTC8 SDCCAG8 MKS1 LZTFL1 BBS9
21 bardet-biedl syndrome 3 29.8 TTC8 TRIM32 MKS1 MKKS LZTFL1 CEP290
22 bardet-biedl syndrome 8 29.8 TTC8 TRIM32 MKS1 MKKS LZTFL1 CEP290
23 inherited retinal disorder 29.8 MKKS CEP290 BBS9 BBS7 BBS5 BBS2
24 orofaciodigital syndrome 29.6 WDPCP MKS1 CEP290
25 coloboma of macula 29.4 SDCCAG8 MKS1 CEP290
26 cystic kidney disease 29.3 MKS1 CEP290 BBS4 BBS2 BBS1
27 alstrom syndrome 29.2 CEP290 BBS7 BBS5 BBS4 BBS2 BBS12
28 primary ciliary dyskinesia 29.0 MKS1 CEP290 BBS5 BBS4 BBS2 BBS1
29 nephronophthisis 2 29.0 SDCCAG8 MKS1 CEP290 BBS4 BBS1
30 joubert syndrome 1 28.9 SDCCAG8 MKS1 CEP290 BBS5 BBS4 BBS2
31 visceral heterotaxy 28.8 MKS1 CEP290 BBS7 BBS4 BBS2 BBS1
32 nephronophthisis 28.7 SDCCAG8 MKS1 CEP290 BBS7 BBS5 BBS4
33 bardet-biedl syndrome 14 28.7 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
34 bardet-biedl syndrome 6 28.7 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
35 body mass index quantitative trait locus 11 28.6 TTC8 MKKS BBS4 BBS2 BBS1 BBIP1
36 retinal disease 28.6 TTC8 MKKS CEP290 BBS9 BBS7 BBS5
37 senior-loken syndrome 1 27.8 SDCCAG8 MKS1 CEP290 BBS5 BBS4 BBS2
38 kartagener syndrome 27.7 SDCCAG8 MKS1 CEP290 BBS4 BBS2 BBS1
39 fundus dystrophy 27.0 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
40 leber plus disease 26.9 TTC8 SDCCAG8 MKS1 MKKS CEP290 BBS9
41 meckel syndrome, type 1 25.7 WDPCP SDCCAG8 MKS1 MKKS CEP290 BBS9
42 polydactyly 25.3 TTC8 SDCCAG8 MKS1 MKKS LZTFL1 CEP290
43 retinitis pigmentosa 24.3 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
44 bardet-biedl syndrome 24.1 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
45 bardet-biedl syndrome 4 13.1
46 bardet-biedl syndrome 5 13.1
47 bardet-biedl syndrome 7 13.1
48 bardet-biedl syndrome 20 13.0
49 bardet-biedl syndrome 21 13.0
50 laurence-moon syndrome 12.1

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



Diseases related to Bardet-Biedl Syndrome 11
Sources

Symptoms & Phenotypes for Bardet-Biedl Syndrome 11

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Human phenotypes related to Bardet-Biedl Syndrome 11:

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

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
retinopathy

Genitourinary External Genitalia Male:
hypogonadism

Skeletal Feet:
polydactyly

Genitourinary Kidneys:
renal anomalies

Growth Weight:
obesity

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 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.39 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
2 cellular MP:0005384 10.27 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
3 nervous system MP:0003631 10.27 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
4 behavior/neurological MP:0005386 10.25 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
5 homeostasis/metabolism MP:0005376 10.21 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
6 adipose tissue MP:0005375 10.13 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5
7 craniofacial MP:0005382 10.13 BBS1 BBS4 BBS7 CEP290 MKKS MKS1
8 renal/urinary system MP:0005367 10.06 BBS1 BBS10 BBS12 BBS2 BBS4 BBS7
9 limbs/digits/tail MP:0005371 10.01 BBS1 BBS2 BBS7 BBS9 MKKS MKS1
10 reproductive system MP:0005389 9.91 BBIP1 BBS1 BBS2 BBS4 BBS7 CEP290
11 respiratory system MP:0005388 9.7 BBS1 BBS4 CEP290 MKKS MKS1 TTC8
12 taste/olfaction MP:0005394 9.5 BBS1 BBS2 BBS4 BBS7 CEP290 MKKS
13 vision/eye MP:0005391 9.47 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4
Sources

Drugs & Therapeutics for Bardet-Biedl Syndrome 11

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc
2 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 Active, not 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 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing Unknown status NCT02510989
5 Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults Completed NCT00213811
6 Genetic and Clinical Studies of Congenital Anomaly Syndromes Completed NCT00001404
7 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
8 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
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

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Genetic Tests for Bardet-Biedl Syndrome 11

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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

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

40
Heart, Retina, Kidney
Sources

Publications for Bardet-Biedl Syndrome 11

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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 6 56
16606853 2006
2
Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H. 6 61
17994549 2008
3
Bardet-Biedl Syndrome 6 61
20301537 2003
4
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 6
12567324 2003
5
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. 61
29806606 2018
6
USP9X counteracts differential ubiquitination of NPHP5 by MARCH7 and BBS11 to regulate ciliogenesis. 61
28498859 2017
7
Interaction with the Bardet-Biedl gene product TRIM32/BBS11 modifies the half-life and localization of Glis2/NPHP7. 61
24500717 2014
8
Common FSNP variants of fourteen Bardet-Biedl syndrome genes and adult body mass. 61
23404957 2013
9
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 61
21642631 2011
10
Limb-girdle muscular dystrophy 2H and the role of TRIM32. 61
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
20177705 2010
12
TRIM32 is an E3 ubiquitin ligase for dysbindin. 61
19349376 2009
13
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. 61
19303295 2009
14
The zebrafish model: use in studying cellular mechanisms for a spectrum of clinical disease entities. 61
17504209 2007
15
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. 61
17379567 2007
Sources

Variations for Bardet-Biedl Syndrome 11

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ClinVar genetic disease variations for Bardet-Biedl Syndrome 11:

6 (show top 50) (show all 62) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TRIM32 NM_001365068.1(ASTN2):c.2806+27641G>ASNV Pathogenic 7351 rs111033571 9:119460409-119460409 9:116698130-116698130
2 TRIM32 NM_001365068.1(ASTN2):c.2806+27753G>ASNV Conflicting interpretations of pathogenicity 95497 rs140589523 9:119460297-119460297 9:116698018-116698018
3 TRIM32 NM_001365068.1(ASTN2):c.2806+26807G>ASNV Conflicting interpretations of pathogenicity 100583 rs3747835 9:119461243-119461243 9:116698964-116698964
4 TRIM32 NM_001365068.1(ASTN2):c.2806+27471C>GSNV Conflicting interpretations of pathogenicity 195280 rs117599771 9:119460579-119460579 9:116698300-116698300
5 TRIM32 NM_001365068.1(ASTN2):c.2806+27259G>CSNV Conflicting interpretations of pathogenicity 260216 rs3747834 9:119460791-119460791 9:116698512-116698512
6 TRIM32 NM_001365068.1(ASTN2):c.2806+27659G>ASNV Conflicting interpretations of pathogenicity 283473 rs572052810 9:119460391-119460391 9:116698112-116698112
7 TRIM32 NM_001365068.1(ASTN2):c.2806+27369C>GSNV Conflicting interpretations of pathogenicity 531842 rs3747833 9:119460681-119460681 9:116698402-116698402
8 TRIM32 NM_001365068.1(ASTN2):c.2806+28002C>GSNV Conflicting interpretations of pathogenicity 364715 rs201891227 9:119460048-119460048 9:116697769-116697769
9 TRIM32 NM_001365068.1(ASTN2):c.2806+27620G>ASNV Conflicting interpretations of pathogenicity 364717 rs200997003 9:119460430-119460430 9:116698151-116698151
10 TRIM32 NM_001365068.1(ASTN2):c.2806+26643C>TSNV Conflicting interpretations of pathogenicity 364718 rs762905941 9:119461407-119461407 9:116699128-116699128
11 TRIM32 NM_001365068.1(ASTN2):c.2806+25375G>CSNV Conflicting interpretations of pathogenicity 364730 rs116058338 9:119462675-119462675 9:116700396-116700396
12 TRIM32 NM_001365068.1(ASTN2):c.2806+25915A>CSNV Uncertain significance 364724 rs868402796 9:119462135-119462135 9:116699856-116699856
13 TRIM32 NM_001365068.1(ASTN2):c.2806+25201T>GSNV Uncertain significance 364733 rs886063383 9:119462849-119462849 9:116700570-116700570
14 TRIM32 NM_001365068.1(ASTN2):c.2806+25132T>CSNV Uncertain significance 364734 rs886063384 9:119462918-119462918 9:116700639-116700639
15 TRIM32 NM_001365068.1(ASTN2):c.2806+27960G>ASNV Uncertain significance 364716 rs575633576 9:119460090-119460090 9:116697811-116697811
16 TRIM32 NM_001365068.1(ASTN2):c.2807-35546C>TSNV Uncertain significance 364713 rs752864284 9:119449618-119449618 9:116687339-116687339
17 TRIM32 NM_001365068.1(ASTN2):c.2806+26597A>CSNV Uncertain significance 364719 rs371002754 9:119461453-119461453 9:116699174-116699174
18 TRIM32 NM_001365068.1(ASTN2):c.2806+25983T>GSNV Uncertain significance 364721 rs571526516 9:119462067-119462067 9:116699788-116699788
19 TRIM32 NM_001365068.1(ASTN2):c.2806+25890G>ASNV Uncertain significance 364725 rs149956877 9:119462160-119462160 9:116699881-116699881
20 TRIM32 NM_001365068.1(ASTN2):c.2806+25588C>ASNV Uncertain significance 364727 rs543534409 9:119462462-119462462 9:116700183-116700183
21 TRIM32 NM_001365068.1(ASTN2):c.2806+25330A>GSNV Uncertain significance 364731 rs549857802 9:119462720-119462720 9:116700441-116700441
22 TRIM32 NM_001365068.1(ASTN2):c.2806+25007A>GSNV Uncertain significance 364735 rs886063385 9:119463043-119463043 9:116700764-116700764
23 TRIM32 NM_001365068.1(ASTN2):c.2806+25555T>ASNV Uncertain significance 364728 rs144172952 9:119462495-119462495 9:116700216-116700216
24 TRIM32 NM_001365068.1(ASTN2):c.2806+24990G>ASNV Uncertain significance 364736 rs41266677 9:119463060-119463060 9:116700781-116700781
25 TRIM32 NM_001365068.1(ASTN2):c.2806+24860T>CSNV Uncertain significance 364738 rs886063386 9:119463190-119463190 9:116700911-116700911
26 TRIM32 NM_001365068.1(ASTN2):c.2806+26309C>ASNV Uncertain significance 364720 rs886063379 9:119461741-119461741 9:116699462-116699462
27 TRIM32 NM_001365068.1(ASTN2):c.2806+25955C>TSNV Uncertain significance 364722 rs886063380 9:119462095-119462095 9:116699816-116699816
28 TRIM32 NM_001365068.1(ASTN2):c.2806+25784C>ASNV Uncertain significance 364726 rs886063381 9:119462266-119462266 9:116699987-116699987
29 TRIM32 NM_001365068.1(ASTN2):c.2806+27727C>TSNV Uncertain significance 840861 9:119460323-119460323 9:116698044-116698044
30 TRIM32 NM_001365068.1(ASTN2):c.2807-35527G>ASNV Uncertain significance 912761 9:119449599-119449599 9:116687320-116687320
31 TRIM32 NM_001365068.1(ASTN2):c.2806+27712C>TSNV Uncertain significance 914267 9:119460338-119460338 9:116698059-116698059
32 TRIM32 NM_001365068.1(ASTN2):c.2806+27408T>CSNV Uncertain significance 914766 9:119460642-119460642 9:116698363-116698363
33 TRIM32 NM_001365068.1(ASTN2):c.2806+26723T>CSNV Uncertain significance 913169 9:119461327-119461327 9:116699048-116699048
34 TRIM32 NM_001365068.1(ASTN2):c.2806+26646G>ASNV Uncertain significance 913170 9:119461404-119461404 9:116699125-116699125
35 TRIM32 NM_001365068.1(ASTN2):c.2806+26456C>ASNV Uncertain significance 914305 9:119461594-119461594 9:116699315-116699315
36 TRIM32 NM_001365068.1(ASTN2):c.2806+26189C>TSNV Uncertain significance 914810 9:119461861-119461861 9:116699582-116699582
37 TRIM32 NM_001365068.1(ASTN2):c.2806+25861T>CSNV Uncertain significance 913225 9:119462189-119462189 9:116699910-116699910
38 TRIM32 NM_001365068.1(ASTN2):c.2806+25838G>ASNV Uncertain significance 913226 9:119462212-119462212 9:116699933-116699933
39 TRIM32 NM_001365068.1(ASTN2):c.2806+25817C>GSNV Uncertain significance 913227 9:119462233-119462233 9:116699954-116699954
40 TRIM32 NM_001365068.1(ASTN2):c.2806+25755C>GSNV Uncertain significance 914345 9:119462295-119462295 9:116700016-116700016
41 TRIM32 NM_001365068.1(ASTN2):c.2806+25696A>GSNV Uncertain significance 914346 9:119462354-119462354 9:116700075-116700075
42 TRIM32 NM_001365068.1(ASTN2):c.2806+25603G>CSNV Uncertain significance 914347 9:119462447-119462447 9:116700168-116700168
43 TRIM32 NM_001365068.1(ASTN2):c.2806+25537G>ASNV Uncertain significance 914841 9:119462513-119462513 9:116700234-116700234
44 TRIM32 NM_001365068.1(ASTN2):c.2806+25391C>ASNV Uncertain significance 912893 9:119462659-119462659 9:116700380-116700380
45 TRIM32 NM_001365068.1(ASTN2):c.2806+27625G>ASNV Uncertain significance 288372 rs141953092 9:119460425-119460425 9:116698146-116698146
46 TRIM32 NM_001365068.1(ASTN2):c.2806+27737G>TSNV Uncertain significance 289342 rs201877419 9:119460313-119460313 9:116698034-116698034
47 TRIM32 NM_001365068.1(ASTN2):c.2807-35561A>GSNV Uncertain significance 364714 rs886063378 9:119449633-119449633 9:116687354-116687354
48 TRIM32 NM_001365068.1(ASTN2):c.2806+27549C>TSNV Uncertain significance 195281 rs200196832 9:119460501-119460501 9:116698222-116698222
49 TRIM32 NM_001365068.1(ASTN2):c.2806+26861G>ASNV Uncertain significance 451845 rs754554333 9:119461189-119461189 9:116698910-116698910
50 TRIM32 NM_001365068.1(ASTN2):c.2806+26571G>ASNV Uncertain significance 95496 rs141965401 9:119461479-119461479 9:116699200-116699200

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

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

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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
 12.23 TTC8 SDCCAG8 MKS1 MKKS LZTFL1 CEP290
2
Cargo trafficking to the periciliary membrane 65
Show member pathways
 11.76 TTC8 MKKS LZTFL1 BBS9 BBS7 BBS5
Sources

GO Terms for Bardet-Biedl Syndrome 11

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.38 WDPCP TTC8 TRIM32 SDCCAG8 MKS1 MKKS
2 cytosol GO:0005829 10.34 TTC8 TRIM32 SDCCAG8 MKS1 MKKS LZTFL1
3 cytoskeleton GO:0005856 10.18 WDPCP TTC8 SDCCAG8 MKS1 MKKS CEP290
4 cell projection GO:0042995 10.1 WDPCP TTC8 SDCCAG8 MKS1 CEP290 BBS9
5 microtubule organizing center GO:0005815 10.06 TTC8 SDCCAG8 MKS1 MKKS CEP290 BBS9
6 cell GO:0005623 10.04 TRIM32 MKKS BBS7 BBS5 BBS4 BBS2
7 centrosome GO:0005813 10.03 TTC8 SDCCAG8 MKS1 MKKS CEP290 BBS7
8 ciliary membrane GO:0060170 9.91 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
9 centriole GO:0005814 9.83 SDCCAG8 MKS1 CEP290 BBS4
10 centriolar satellite GO:0034451 9.81 SDCCAG8 CEP290 BBS9 BBS4
11 motile cilium GO:0031514 9.76 MKKS BBS4 BBS2
12 ciliary transition zone GO:0035869 9.76 MKS1 CEP290 BBS9 BBS4
13 BBSome GO:0034464 9.76 TTC8 BBS9 BBS7 BBS5 BBS4 BBS2
14 axoneme GO:0005930 9.73 WDPCP BBS7 BBS1
15 photoreceptor connecting cilium GO:0032391 9.71 TTC8 CEP290 BBS4
16 ciliary basal body GO:0036064 9.65 TTC8 SDCCAG8 MKS1 MKKS CEP290 BBS7
17 pericentriolar material GO:0000242 9.58 BBS9 BBS4
18 MKS complex GO:0036038 9.55 MKS1 CEP290
19 cilium GO:0005929 9.44 WDPCP TTC8 MKS1 CEP290 BBS9 BBS7

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.13 TTC8 CEP290 BBS9 BBS7 BBS5 BBS4
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 neuron migration GO:0001764 9.83 SDCCAG8 BBS4 ASTN2
7 ciliary basal body-plasma membrane docking GO:0097711 9.82 SDCCAG8 MKS1 CEP290
8 protein localization GO:0008104 9.82 BBS7 BBS4 BBS2
9 cerebral cortex development GO:0021987 9.81 MKKS BBS4 BBS2
10 determination of left/right symmetry GO:0007368 9.8 MKS1 MKKS BBS7
11 hippocampus development GO:0021766 9.8 MKKS BBS4 BBS2
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 negative regulation of GTPase activity GO:0034260 9.79 TTC8 MKKS BBS4
17 positive regulation of multicellular organism growth GO:0040018 9.79 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 cilium assembly GO:0060271 9.73 WDPCP TTC8 MKS1 MKKS CEP290 BBS9
24 striatum development GO:0021756 9.72 MKKS BBS4 BBS2
25 response to leptin GO:0044321 9.71 MKKS BBS4 BBS2
26 leptin-mediated signaling pathway GO:0033210 9.7 MKKS BBS4 BBS2
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 inner ear receptor cell stereocilium organization GO:0060122 9.67 TTC8 MKS1
30 motile cilium assembly GO:0044458 9.67 MKS1 BBS5
31 protein localization to organelle GO:0033365 9.67 BBS4 BBS2
32 vasodilation GO:0042311 9.66 MKKS BBS2
33 negative regulation of actin filament polymerization GO:0030837 9.66 MKKS BBS4
34 face development GO:0060324 9.65 MKKS BBS4
35 negative regulation of appetite by leptin-mediated signaling pathway GO:0038108 9.65 MKKS BBS4 BBS2
36 artery smooth muscle contraction GO:0014824 9.63 MKKS BBS2
37 sensory processing GO:0050893 9.61 TTC8 BBS4
38 pigment granule aggregation in cell center GO:0051877 9.59 MKKS BBS7
39 cell projection organization GO:0030030 9.4 WDPCP TTC8 SDCCAG8 MKS1 CEP290 BBS9

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 9.91 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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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29 GTR
30 HMDB
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32 ICD10
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The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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