MCID: TWN003
MIFTS: 57

Townes-Brocks Syndrome

Categories: Rare diseases, Genetic diseases, Ear diseases, Nephrological diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Townes-Brocks Syndrome

MalaCards integrated aliases for Townes-Brocks Syndrome:

Name: Townes-Brocks Syndrome 12 23 49 24 55 36 51 14
Renal-Ear-Anal-Radial Syndrome 49 24 55
Townes Syndrome 49 24 55
Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs 49 55
Imperforate Anus with Hand, Foot and Ear Anomalies 49 55
Rear Syndrome 49 55
Tbs 49 55
Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs 49
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 24
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 24
Anus, Imperforate, with Hand, Foot and Ear Anomalies 49
Imperforate Anus-Hand and Foot Anomalies Syndrome 24
Anal-Ear-Renal-Radial Malformation Syndrome 24

Characteristics:

Orphanet epidemiological data:

55
townes-brocks syndrome
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

GeneReviews:

23
Penetrance Penetrance appears to be complete, but expressivity is highly variable...

Classifications:



Summaries for Townes-Brocks Syndrome

NIH Rare Diseases : 49 Townes-Brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and thumb malformations. Most affected individuals have at least two of these three main features. Other signs and symptoms may include kidney abnormalities, hearing loss, heart defects, genital malformations and intellectual disability. The condition is caused by mutations in the SALL1 gene which provides instructions for making proteins that are involved in the formation of tissues and organs before birth. In rare cases, the syndrome may be caused by a mutation in the SALL4 gene. Inheritance is autosomal dominant. Imperforate anus is corrected with surgery as soon as possible, after the baby is born. The hearing loss should be treated early; the thumb malformation is also treated with surgery when needed.  Last updated: 10/24/2016

MalaCards based summary : Townes-Brocks Syndrome, also known as renal-ear-anal-radial syndrome, is related to duane-radial ray syndrome and hemifacial microsomia, and has symptoms including cryptorchidism, hypospadias and bifid scrotum. An important gene associated with Townes-Brocks Syndrome is SALL1 (Spalt Like Transcription Factor 1), and among its related pathways/superpathways are Transcriptional regulation of pluripotent stem cells and Wnt/beta-catenin Signaling Pathway in Leukemia. The drugs Methyltestosterone and Testosterone have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and uterus, and related phenotypes are cardiovascular system and growth/size/body region

Genetics Home Reference : 24 Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two of these three major features.

Disease Ontology : 12 An autosomal dominant disease that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.

GeneReviews: NBK1445

Related Diseases for Townes-Brocks Syndrome

Diseases in the Townes-Brocks Syndrome family:

Townes-Brocks Syndrome 1 Townes-Brocks Syndrome 2

Diseases related to Townes-Brocks Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 duane-radial ray syndrome 31.1 SALL1 SALL4
2 hemifacial microsomia 29.9 SALL1 SALL4
3 townes-brocks syndrome 1 12.6
4 townes-brocks syndrome 2 12.6
5 mycobacterium tuberculosis 1 12.2
6 tuberculous meningitis 11.7
7 multidrug-resistant tuberculosis 11.6
8 extrapulmonary tuberculosis 11.4
9 pulmonary tuberculosis 11.4
10 tracheobronchomalacia 11.2
11 tuberculous peritonitis 11.1
12 temple-baraitser syndrome 10.9
13 anus, imperforate 10.2
14 aging 10.2
15 hypothyroidism 10.2
16 esophageal basaloid squamous cell carcinoma 10.2 CTNNB1 DACT1
17 hepatitis 10.1
18 branchiootorenal syndrome 10.1 EYA1 SALL1
19 meningitis 10.0
20 duane retraction syndrome 1 10.0
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
22 end stage renal failure 10.0
23 thrombocytopenia 10.0
24 congenital hypothyroidism 10.0
25 microphthalmia 10.0
26 mosaic trisomy 8 10.0
27 dysphagia 10.0
28 renal dysplasia 10.0
29 pleural tuberculosis 10.0
30 viral hepatitis 10.0
31 infertility 9.9
32 miliary tuberculosis 9.9
33 pleurisy 9.9
34 choroiditis 9.9
35 lymphadenitis 9.9
36 renal hypodysplasia/aplasia 1 9.8 EYA1 SALL1
37 rheumatoid arthritis 9.8
38 arthritis 9.8
39 orchitis 9.8
40 epididymo-orchitis 9.8
41 mycobacterium kansasii 9.8
42 papillorenal syndrome 9.8 EYA1 SALL4
43 spinocerebellar ataxia 11 9.8 CCP110 CEP97
44 leprosy 3 9.7
45 bronchiolitis obliterans 9.7
46 drug-induced hepatitis 9.7
47 silicosis 9.7
48 abdominal tuberculosis 9.7
49 primary hyperparathyroidism 9.7
50 inflammatory spondylopathy 9.7

Graphical network of the top 20 diseases related to Townes-Brocks Syndrome:



Diseases related to Townes-Brocks Syndrome

Symptoms & Phenotypes for Townes-Brocks Syndrome

Human phenotypes related to Townes-Brocks Syndrome:

55 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
2 hypospadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000047
3 bifid scrotum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000048
4 vesicoureteral reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0000076
5 renal insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0000083
6 ectopic kidney 55 31 occasional (7.5%) Occasional (29-5%) HP:0000086
7 renal hypoplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000089
8 abnormality of the uterus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000130
9 rectovaginal fistula 55 31 hallmark (90%) Very frequent (99-80%) HP:0000143
10 wide mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000154
11 facial asymmetry 55 31 occasional (7.5%) Occasional (29-5%) HP:0000324
12 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
13 preauricular skin tag 55 31 hallmark (90%) Very frequent (99-80%) HP:0000384
14 overfolded helix 55 31 frequent (33%) Frequent (79-30%) HP:0000396
15 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
16 abnormality of vision 55 31 occasional (7.5%) Occasional (29-5%) HP:0000504
17 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
18 chorioretinal coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000567
19 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
20 blepharophimosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000581
21 iris coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000612
22 abnormality of the ribs 55 31 occasional (7.5%) Occasional (29-5%) HP:0000772
23 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
24 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
25 epibulbar dermoid 55 31 occasional (7.5%) Occasional (29-5%) HP:0001140
26 preaxial hand polydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001177
27 triphalangeal thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0001199
28 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
29 agenesis of corpus callosum 55 31 occasional (7.5%) Occasional (29-5%) HP:0001274
30 subcutaneous nodule 55 31 frequent (33%) Frequent (79-30%) HP:0001482
31 failure to thrive 55 31 occasional (7.5%) Occasional (29-5%) HP:0001508
32 anteriorly placed anus 55 31 frequent (33%) Frequent (79-30%) HP:0001545
33 atrial septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001631
34 tetralogy of fallot 55 31 occasional (7.5%) Occasional (29-5%) HP:0001636
35 patent ductus arteriosus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001643
36 pes planus 55 31 frequent (33%) Frequent (79-30%) HP:0001763
37 toe syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001770
38 toe clinodactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001863
39 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
40 anal atresia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002023
41 arnold-chiari malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002308
42 bowel incontinence 55 31 occasional (7.5%) Occasional (29-5%) HP:0002607
43 abnormal vertebral morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0003468
44 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
45 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
46 rectoperineal fistula 55 31 hallmark (90%) Very frequent (99-80%) HP:0004792
47 multiple renal cysts 55 31 occasional (7.5%) Occasional (29-5%) HP:0005562
48 cranial nerve paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0006824
49 microtia 55 31 frequent (33%) Frequent (79-30%) HP:0008551
50 external ear malformation 55 31 hallmark (90%) Very frequent (99-80%) HP:0008572

MGI Mouse Phenotypes related to Townes-Brocks Syndrome:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.05 SHOX2 SALL4 CTNNB1 SALL1 DACT1 CCP110
2 growth/size/body region MP:0005378 10.03 SHOX2 SALL1 SALL4 CTNNB1 DACT1 CCP110
3 digestive/alimentary MP:0005381 10.02 SHOX2 SALL4 SALL1 DACT1 CCP110 EYA1
4 mortality/aging MP:0010768 10.02 SHOX2 SALL2 SALL4 SALL1 DACT1 CCP110
5 embryo MP:0005380 10 SALL2 SALL4 SALL1 DACT1 CCP110 EYA1
6 nervous system MP:0003631 9.91 SHOX2 SALL2 SALL4 SALL1 DACT1 CCP110
7 craniofacial MP:0005382 9.89 SHOX2 SALL4 CTNNB1 CCP110 EYA1
8 limbs/digits/tail MP:0005371 9.85 SHOX2 SALL4 SALL1 DACT1 CCP110 CTNNB1
9 hearing/vestibular/ear MP:0005377 9.71 SALL1 SALL4 CTNNB1 EYA1
10 renal/urinary system MP:0005367 9.7 SALL2 SALL4 SALL1 DACT1 CCP110 EYA1
11 skeleton MP:0005390 9.5 SHOX2 SALL4 CTNNB1 SALL1 DACT1 CCP110
12 vision/eye MP:0005391 9.02 SALL4 LMO7 CTNNB1 CCP110 EYA1

Drugs & Therapeutics for Townes-Brocks Syndrome

Drugs for Townes-Brocks Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 3,Phase 2 58-18-4 6010
2
Testosterone Approved, Investigational Phase 3,Phase 2 58-22-0 6013
3 Anabolic Agents Phase 3,Phase 2
4 Androgens Phase 3,Phase 2
5 Antineoplastic Agents, Hormonal Phase 3,Phase 2
6 Hormone Antagonists Phase 3,Phase 2
7 Hormones Phase 3,Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
9 Testosterone 17 beta-cypionate Phase 3,Phase 2
10
Testosterone enanthate Phase 3,Phase 2 315-37-7 9416
11 Testosterone undecanoate Phase 3,Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Intranasal TBS-1 Treatment of Male Hypogonadism Unknown status NCT01446042 Phase 3 Testosterone;Testosterone
2 Efficacy of an Intranasal Testosterone Product Completed NCT01252745 Phase 2 Testosterone;Testosterone;Testosterone
3 Efficacy and Tolerability of an Intra-Nasal Testosterone Product Completed NCT00975650 Phase 2 Nasobol® (Intra-nasal Testosterone);Androderm® (Positive Control)

Search NIH Clinical Center for Townes-Brocks Syndrome

Genetic Tests for Townes-Brocks Syndrome

Anatomical Context for Townes-Brocks Syndrome

MalaCards organs/tissues related to Townes-Brocks Syndrome:

38
Kidney, Heart, Uterus, Bone, Skin

Publications for Townes-Brocks Syndrome

Articles related to Townes-Brocks Syndrome:

(show top 50) (show all 63)
# Title Authors Year
1
Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. ( 29395072 )
2018
2
On-Top Index Pollicization After a Partial Amputation of a Syndactylized Hypoplastic Thumb in a Patient With Townes-Brocks Syndrome. ( 28509696 )
2017
3
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. ( 28054444 )
2017
4
Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. ( 27073431 )
2016
5
Deletion upstream of SALL1 producing Townes-Brocks syndrome. ( 27277004 )
2016
6
A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury. ( 26311113 )
2015
7
Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome. ( 25192472 )
2014
8
Endocrine abnormalities in Townes-Brocks syndrome. ( 23894113 )
2013
9
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. ( 22308078 )
2012
10
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome. ( 23716951 )
2012
11
Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome. ( 22228756 )
2012
12
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. ( 21253317 )
2010
13
Phenotypic variability in a family with Townes-Brocks syndrome. ( 20520617 )
2010
14
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. ( 19204018 )
2009
15
Townes-Brocks syndrome--airway management conditions improve with age: report of follow up of a single case. ( 19236659 )
2009
16
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. ( 20003547 )
2009
17
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. ( 19291771 )
2009
18
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. ( 19737635 )
2009
19
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. ( 18470945 )
2008
20
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). ( 19005989 )
2008
21
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. ( 18280297 )
2008
22
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. ( 18813423 )
2008
23
Townes-Brocks syndrome with hypothyroidism. ( 17351307 )
2007
24
Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome? ( 17668723 )
2007
25
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? ( 17910067 )
2007
26
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. ( 17221874 )
2007
27
Mouse homolog of SALL1, a causative gene for Townes-Brocks syndrome, binds to A/T-rich sequences in pericentric heterochromatin via its C-terminal zinc finger domains. ( 17295837 )
2007
28
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. ( 16892410 )
2006
29
Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. ( 16429401 )
2006
30
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. ( 16470706 )
2006
31
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. ( 16088922 )
2005
32
Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. ( 15158448 )
2004
33
Townes-Brocks syndrome. ( 15297694 )
2004
34
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. ( 14627694 )
2003
35
The conserved glutamine-rich region of chick csal1 and csal3 mediates protein interactions with other spalt family members. Implications for Townes-Brocks syndrome. ( 12482848 )
2003
36
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. ( 12915476 )
2003
37
Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes. ( 12925729 )
2003
38
Somatic mosaicism and variable expression of Townes-Brocks syndrome. ( 12210359 )
2002
39
SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. ( 11751684 )
2001
40
Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome. ( 11404093 )
2001
41
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. ( 11484202 )
2001
42
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. ( 11478532 )
2001
43
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. ( 10819639 )
2000
44
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. ( 10654325 )
2000
45
SALL1 mutations in Townes-Brocks syndrome and related disorders. ( 11102974 )
2000
46
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. ( 9973281 )
1999
47
Two cases of Townes-Brocks syndrome. ( 10631923 )
1999
48
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. ( 10533063 )
1999
49
Townes-Brocks syndrome. ( 10051003 )
1999
50
Two cases of Townes-Brocks syndrome with previously undescribed anomalies. ( 9823498 )
1998

Variations for Townes-Brocks Syndrome

ClinVar genetic disease variations for Townes-Brocks Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SALL1 NM_002968.2(SALL1): c.3414_3415delAT (p.Cys1139Trpfs) deletion Pathogenic rs1064793257 GRCh37 Chromosome 16, 51172718: 51172719
2 SALL1 NM_002968.2(SALL1): c.1214dup (p.Leu406Phefs) duplication Pathogenic GRCh38 Chromosome 16, 51141008: 51141008
3 SALL1 NM_002968.2(SALL1): c.2256delC (p.Tyr753Thrfs) deletion Pathogenic GRCh37 Chromosome 16, 51173877: 51173877

Expression for Townes-Brocks Syndrome

Search GEO for disease gene expression data for Townes-Brocks Syndrome.

Pathways for Townes-Brocks Syndrome

Pathways related to Townes-Brocks Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.65 SALL1 SALL4
2 10 CTNNB1 SALL4

GO Terms for Townes-Brocks Syndrome

Cellular components related to Townes-Brocks Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-DNA complex GO:0032993 9.32 CTNNB1 EYA1
2 heterochromatin GO:0000792 9.26 SALL1 SALL4
3 NuRD complex GO:0016581 9.16 SALL1 SALL2
4 protein complex GO:0043234 9.02 CCP110 CEP97 CTNNB1 EYA1 SALL4
5 beta-catenin destruction complex GO:0030877 8.96 CTNNB1 DACT1

Biological processes related to Townes-Brocks Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.73 CTNNB1 EYA1 SALL1 SALL2 SALL4 SHOX2
2 heart development GO:0007507 9.62 CTNNB1 SALL1 SALL4 SHOX2
3 somatic stem cell population maintenance GO:0035019 9.59 SALL1 SALL4
4 neurogenesis GO:0022008 9.58 SALL1 SALL4
5 embryonic digit morphogenesis GO:0042733 9.58 CTNNB1 SALL1
6 stem cell population maintenance GO:0019827 9.57 CTNNB1 SALL4
7 embryonic limb morphogenesis GO:0030326 9.55 SALL4 SHOX2
8 cellular protein localization GO:0034613 9.54 CTNNB1 EYA1
9 ureteric bud development GO:0001657 9.52 EYA1 SALL1
10 positive regulation of Wnt signaling pathway GO:0030177 9.51 DACT1 SALL1
11 limb development GO:0060173 9.49 CTNNB1 SALL1
12 embryonic forelimb morphogenesis GO:0035115 9.48 CTNNB1 SHOX2
13 ventricular septum development GO:0003281 9.46 SALL1 SALL4
14 positive regulation of mesenchymal cell proliferation GO:0002053 9.43 CTNNB1 SHOX2
15 outer ear morphogenesis GO:0042473 9.4 EYA1 SALL1
16 negative regulation of cilium assembly GO:1902018 9.37 CCP110 CEP97
17 neural tube development GO:0021915 9.33 DACT1 SALL2 SALL4
18 branching involved in ureteric bud morphogenesis GO:0001658 9.13 CTNNB1 EYA1 SALL1
19 negative regulation of transcription by RNA polymerase II GO:0000122 9.1 CTNNB1 DACT1 SALL1 SALL2 SALL4 SHOX2
20 regulation of transcription, DNA-templated GO:0006355 10.03 CTNNB1 EYA1 SALL1 SALL2 SALL4 SHOX2

Molecular functions related to Townes-Brocks Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.26 SALL1 SALL2 SALL4 SHOX2
2 RNA polymerase II transcription factor binding GO:0001085 9.16 CTNNB1 DACT1
3 transcription regulatory region DNA binding GO:0044212 8.92 CTNNB1 SALL1 SALL2 SALL4

Sources for Townes-Brocks Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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