MCID: TWN003
MIFTS: 54

Townes-Brocks Syndrome

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

Aliases & Classifications for Townes-Brocks Syndrome

MalaCards integrated aliases for Townes-Brocks Syndrome:

Name: Townes-Brocks Syndrome 12 23 50 24 25 56 52 14
Townes Syndrome 50 25 56 29
Renal-Ear-Anal-Radial Syndrome 50 25 56
Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs 50 56
Imperforate Anus with Hand, Foot and Ear Anomalies 50 56
Rear Syndrome 50 56
Tbs 50 56
Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs 50
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 25
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 25
Anus, Imperforate, with Hand, Foot and Ear Anomalies 50
Imperforate Anus-Hand and Foot Anomalies Syndrome 25
Anal-Ear-Renal-Radial Malformation Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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 townes syndrome, is related to townes-brocks syndrome 1 and townes-brocks syndrome 2, and has symptoms including short stature, failure to thrive and strabismus. 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. Affiliated tissues include kidney, heart and bone, and related phenotypes are growth/size/body region and digestive/alimentary

Genetics Home Reference : 25 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 2 Townes-Brocks Syndrome 1

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

(show top 50) (show all 68)
id Related Disease Score Top Affiliating Genes
1 townes-brocks syndrome 1 12.5
2 townes-brocks syndrome 2 12.5
3 tuberculosis 12.1
4 tuberculous meningitis 11.6
5 multidrug-resistant tuberculosis 11.5
6 tracheobronchomalacia 11.1
7 temple-baraitser syndrome 10.8
8 duane retraction syndrome 10.8
9 renal tubular dysgenesis, ren-related 10.3 EYA1 SALL1
10 spinal cord dermoid cyst 10.2 CTNNB1 DACT1
11 kagami-ogata syndrome 10.2 SALL1 SALL4
12 cataract 30, pulverulent 10.2 EYA1 SALL1
13 imperforate anus 10.1
14 hypothyroidism 10.1
15 orbital granuloma 10.1 SALL1 SALL4
16 autosomal dominant microcephaly 10.1 EYA1 SALL1
17 pulmonary tuberculosis 10.1
18 hepatitis 10.0
19 dysphagia 10.0
20 renal dysplasia 10.0
21 end stage renal failure 10.0
22 thrombocytopenia 10.0
23 congenital hypothyroidism 10.0
24 birth defects 10.0
25 mosaic trisomy 8 10.0
26 single median maxillary central incisor 10.0
27 hemifacial microsomia 10.0
28 microphthalmia 10.0
29 meningitis 9.9
30 viral hepatitis 9.9
31 pleural tuberculosis 9.9
32 infertility 9.8
33 miliary tuberculosis 9.8
34 lymphadenitis 9.8
35 extrapulmonary tuberculosis 9.8
36 choroiditis 9.8
37 pseudohypoparathyroidism ia 9.8 SALL1 SALL2 SALL4
38 arthritis 9.7
39 rheumatoid arthritis 9.7
40 pleurisy 9.7
41 mycobacterium kansasii 9.7
42 uveitis 9.6
43 pneumonia 9.6
44 bronchiolitis obliterans 9.6
45 spondylitis 9.6
46 drug-induced hepatitis 9.6
47 intestinal tuberculosis 9.6
48 neuropathy 9.6
49 hyperparathyroidism 9.6
50 psoriasis 9.6

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:

56 32 (show top 50) (show all 67)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 failure to thrive 56 32 occasional (7.5%) Occasional (29-5%) HP:0001508
3 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
4 wide mouth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000154
5 patent ductus arteriosus 56 32 occasional (7.5%) Occasional (29-5%) HP:0001643
6 hypospadias 56 32 occasional (7.5%) Occasional (29-5%) HP:0000047
7 microphthalmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000568
8 renal insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0000083
9 cryptorchidism 56 32 frequent (33%) Frequent (79-30%) HP:0000028
10 iris coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000612
11 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
12 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
13 tetralogy of fallot 56 32 occasional (7.5%) Occasional (29-5%) HP:0001636
14 agenesis of corpus callosum 56 32 occasional (7.5%) Occasional (29-5%) HP:0001274
15 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
16 bifid scrotum 56 32 occasional (7.5%) Occasional (29-5%) HP:0000048
17 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
18 vesicoureteral reflux 56 32 occasional (7.5%) Occasional (29-5%) HP:0000076
19 toe syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001770
20 renal hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000089
21 pes planus 56 32 frequent (33%) Frequent (79-30%) HP:0001763
22 blepharophimosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000581
23 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
24 facial asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0000324
25 multiple renal cysts 56 32 occasional (7.5%) Occasional (29-5%) HP:0005562
26 microtia 56 32 frequent (33%) Frequent (79-30%) HP:0008551
27 preauricular skin tag 56 32 hallmark (90%) Very frequent (99-80%) HP:0000384
28 triphalangeal thumb 56 32 hallmark (90%) Very frequent (99-80%) HP:0001199
29 ectopic kidney 56 32 occasional (7.5%) Occasional (29-5%) HP:0000086
30 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
31 anal atresia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002023
32 chorioretinal coloboma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000567
33 arnold-chiari malformation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002308
34 rectovaginal fistula 56 32 hallmark (90%) Very frequent (99-80%) HP:0000143
35 cranial nerve paralysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0006824
36 broad thumb 56 32 occasional (7.5%) Occasional (29-5%) HP:0011304
37 anteriorly placed anus 56 32 frequent (33%) Frequent (79-30%) HP:0001545
38 epibulbar dermoid 56 32 occasional (7.5%) Occasional (29-5%) HP:0001140
39 overfolded helix 56 32 frequent (33%) Frequent (79-30%) HP:0000396
40 hypoplasia of penis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008736
41 external ear malformation 56 32 hallmark (90%) Very frequent (99-80%) HP:0008572
42 lower limb asymmetry 56 32 occasional (7.5%) Occasional (29-5%) HP:0100559
43 bowel incontinence 56 32 occasional (7.5%) Occasional (29-5%) HP:0002607
44 abnormality of the vertebrae 56 32 occasional (7.5%) Occasional (29-5%) HP:0003468
45 broad hallux phalanx 56 32 occasional (7.5%) Occasional (29-5%) HP:0010059
46 abnormality of vision 56 32 occasional (7.5%) Occasional (29-5%) HP:0000504
47 subcutaneous nodule 56 32 frequent (33%) Frequent (79-30%) HP:0001482
48 toe clinodactyly 56 32 frequent (33%) Frequent (79-30%) HP:0001863
49 clinodactyly of the 5th finger 56 32 frequent (33%) Frequent (79-30%) HP:0004209
50 abnormality of the uterus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000130

MGI Mouse Phenotypes related to Townes-Brocks Syndrome:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.03 EYA1 FOXD1 PLCB4 SALL1 SALL4 SHOX2
2 digestive/alimentary MP:0005381 10.02 SHOX2 CTNNB1 DACT1 EYA1 FOXD1 SALL1
3 cardiovascular system MP:0005385 9.97 SALL1 SALL4 SHOX2 CTNNB1 DACT1 EYA1
4 mortality/aging MP:0010768 9.97 CTNNB1 DACT1 EYA1 FOXD1 PLCB4 SALL1
5 embryo MP:0005380 9.93 CTNNB1 DACT1 EYA1 SALL1 SALL2 SALL4
6 nervous system MP:0003631 9.91 CTNNB1 DACT1 EYA1 FOXD1 PLCB4 SALL1
7 limbs/digits/tail MP:0005371 9.77 CTNNB1 DACT1 SALL1 SALL4 SHOX2
8 hearing/vestibular/ear MP:0005377 9.71 CTNNB1 EYA1 SALL1 SALL4
9 renal/urinary system MP:0005367 9.7 CTNNB1 DACT1 EYA1 FOXD1 SALL1 SALL2
10 skeleton MP:0005390 9.5 CTNNB1 DACT1 EYA1 PLCB4 SALL1 SALL4
11 vision/eye MP:0005391 9.02 CTNNB1 EYA1 FOXD1 PLCB4 SALL4

Drugs & Therapeutics for Townes-Brocks Syndrome

Search Clinical Trials , NIH Clinical Center for Townes-Brocks Syndrome

Genetic Tests for Townes-Brocks Syndrome

Genetic tests related to Townes-Brocks Syndrome:

id Genetic test Affiliating Genes
1 Townes Syndrome 29
2 Townes-Brocks Syndrome 24 SALL1

Anatomical Context for Townes-Brocks Syndrome

MalaCards organs/tissues related to Townes-Brocks Syndrome:

39
Kidney, Heart, Bone, Skin, Uterus

Publications for Townes-Brocks Syndrome

Articles related to Townes-Brocks Syndrome:

(show top 50) (show all 62)
id Title Authors Year
1
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. ( 28054444 )
2017
2
On-Top Index Pollicization After a Partial Amputation of a Syndactylized Hypoplastic Thumb in a Patient With Townes-Brocks Syndrome. ( 28509696 )
2017
3
Deletion upstream of SALL1 producing Townes-Brocks syndrome. ( 27277004 )
2016
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
A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury. ( 26311113 )
2015
6
Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome. ( 25192472 )
2014
7
Endocrine abnormalities in Townes-Brocks syndrome. ( 23894113 )
2013
8
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. ( 22308078 )
2012
9
Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome. ( 22228756 )
2012
10
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome. ( 23716951 )
2012
11
Phenotypic variability in a family with Townes-Brocks syndrome. ( 20520617 )
2010
12
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. ( 21253317 )
2010
13
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. ( 19291771 )
2009
14
Townes-Brocks syndrome--airway management conditions improve with age: report of follow up of a single case. ( 19236659 )
2009
15
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. ( 19737635 )
2009
16
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. ( 19204018 )
2009
17
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. ( 20003547 )
2009
18
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). ( 19005989 )
2008
19
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. ( 18470945 )
2008
20
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. ( 18813423 )
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
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
23
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? ( 17910067 )
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
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. ( 17221874 )
2007
26
Townes-Brocks syndrome with hypothyroidism. ( 17351307 )
2007
27
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. ( 16892410 )
2006
28
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. ( 16470706 )
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
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. ( 16088922 )
2005
31
Townes-Brocks syndrome. ( 15297694 )
2004
32
Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. ( 15158448 )
2004
33
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. ( 12915476 )
2003
34
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
35
Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes. ( 12925729 )
2003
36
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. ( 14627694 )
2003
37
Somatic mosaicism and variable expression of Townes-Brocks syndrome. ( 12210359 )
2002
38
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
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
SALL1 mutations in Townes-Brocks syndrome and related disorders. ( 11102974 )
2000
43
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. ( 10654325 )
2000
44
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. ( 10819639 )
2000
45
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. ( 10533063 )
1999
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. ( 10051003 )
1999
49
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. ( 9425907 )
1998
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 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 SALL1 SALL1, 1-BP DEL, 1268C deletion Pathogenic
2 SALL1 NM_002968.2(SALL1): c.1115C> A (p.Ser372Ter) single nucleotide variant Pathogenic rs104894535 GRCh37 Chromosome 16, 51175018: 51175018
3 SALL1 NM_002968.2(SALL1): c.826C> T (p.Arg276Ter) single nucleotide variant Pathogenic rs104894537 GRCh37 Chromosome 16, 51175307: 51175307
4 SALL1 NM_002968.2(SALL1): c.1115C> G (p.Ser372Ter) single nucleotide variant Pathogenic rs104894535 GRCh37 Chromosome 16, 51175018: 51175018
5 SALL1 SALL1, 2-BP DEL, NT1277 deletion Pathogenic
6 SALL1 SALL1, 2-BP DEL, 1347CA deletion Pathogenic
7 SALL1 SALL1, 2-BP DEL, 792GC deletion Pathogenic
8 SALL1 NM_002968.2(SALL1): c.1256T> A (p.Leu419Ter) single nucleotide variant Pathogenic rs137853084 GRCh37 Chromosome 16, 51174877: 51174877
9 SALL1 SALL1, 1-BP DEL, 995C deletion Pathogenic
10 SALL1 SALL1, 2-BP DEL, 3414AT deletion Pathogenic
11 SALL1 NM_002968.2(SALL1): c.949C> T (p.Pro317Ser) single nucleotide variant Pathogenic rs864621971 GRCh38 Chromosome 16, 51141273: 51141273
12 SALL1 NM_002968.2(SALL1): c.3160C> T (p.Arg1054Ter) single nucleotide variant Pathogenic rs864321635 GRCh37 Chromosome 16, 51172973: 51172973
13 SALL1 NM_002968.2(SALL1): c.727C> T (p.Gln243Ter) single nucleotide variant Pathogenic rs886044708 GRCh37 Chromosome 16, 51175406: 51175406
14 SALL1 NM_002968.2(SALL1): c.1108_1109delGT (p.Val370Leufs) deletion Pathogenic rs1085307143 GRCh37 Chromosome 16, 51175024: 51175025

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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 protein-DNA complex GO:0032993 9.32 CTNNB1 EYA1
2 nucleus GO:0005634 9.32 CTNNB1 DACT1 EYA1 FOXD1 PLCB4 SALL1
3 heterochromatin GO:0000792 9.26 SALL1 SALL4
4 NuRD complex GO:0016581 9.16 SALL1 SALL2
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 22)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.98 CTNNB1 EYA1 FOXD1 SALL1 SALL2 SALL4
2 negative regulation of transcription, DNA-templated GO:0045892 9.76 CTNNB1 FOXD1 SALL1 SALL2
3 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.63 CTNNB1 DACT1 SALL1 SALL2 SALL4 SHOX2
4 heart development GO:0007507 9.62 CTNNB1 SALL1 SALL4 SHOX2
5 somatic stem cell population maintenance GO:0035019 9.61 SALL1 SALL4
6 neurogenesis GO:0022008 9.6 SALL1 SALL4
7 embryonic digit morphogenesis GO:0042733 9.59 CTNNB1 SALL1
8 stem cell population maintenance GO:0019827 9.58 CTNNB1 SALL4
9 embryonic limb morphogenesis GO:0030326 9.58 SALL4 SHOX2
10 cellular protein localization GO:0034613 9.57 CTNNB1 EYA1
11 ureteric bud development GO:0001657 9.55 EYA1 SALL1
12 positive regulation of Wnt signaling pathway GO:0030177 9.54 DACT1 SALL1
13 limb development GO:0060173 9.52 CTNNB1 SALL1
14 embryonic forelimb morphogenesis GO:0035115 9.51 CTNNB1 SHOX2
15 ventricular septum development GO:0003281 9.49 SALL1 SALL4
16 positive regulation of mesenchymal cell proliferation GO:0002053 9.48 CTNNB1 SHOX2
17 neural tube development GO:0021915 9.43 DACT1 SALL2 SALL4
18 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.43 CTNNB1 EYA1 FOXD1 SALL1 SALL4 SHOX2
19 kidney development GO:0001822 9.4 CTNNB1 SALL1
20 outer ear morphogenesis GO:0042473 9.37 EYA1 SALL1
21 branching involved in ureteric bud morphogenesis GO:0001658 8.8 CTNNB1 EYA1 SALL1
22 transcription, DNA-templated GO:0006351 10.03 CTNNB1 EYA1 FOXD1 SALL1 SALL2 SALL4

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.73 CTNNB1 FOXD1 SALL1 SALL2 SALL4 SHOX2
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.55 CTNNB1 FOXD1 SALL1 SALL2 SALL4
3 transcription factor binding GO:0008134 9.54 CTNNB1 SALL4 UBA2
4 sequence-specific DNA binding GO:0043565 9.35 FOXD1 SALL1 SALL2 SALL4 SHOX2
5 RNA polymerase II transcription factor binding GO:0001085 9.32 CTNNB1 DACT1
6 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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