TBS
MCID: TWN003
MIFTS: 53

Townes-Brocks Syndrome (TBS) malady

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

Aliases & Classifications for Townes-Brocks Syndrome

Aliases & Descriptions for Townes-Brocks Syndrome:

Name: Townes-Brocks Syndrome 54 12 23 50 24 25 56 66 52 14
Townes Syndrome 50 25 56 29
Townes-Brocks Branchiootorenal-Like Syndrome 54 66 13
Renal-Ear-Anal-Radial Syndrome 50 25 56
Tbs 50 56 66
Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs 50 56
Imperforate Anus with Hand, Foot and Ear Anomalies 50 56
Rear Syndrome 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
townes-brocks syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



External Ids:

OMIM 54 107480
Disease Ontology 12 DOID:0050887
Orphanet 56 ORPHA857
MESH via Orphanet 43 C536974
UMLS via Orphanet 70 C0265246
ICD10 via Orphanet 34 Q87.8

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 tuberculosis and tuberculous meningitis, and has symptoms including constipation, agenesis of corpus callosum and hypothyroidism. An important gene associated with Townes-Brocks Syndrome is SALL1 (Spalt Like Transcription Factor 1), and among its related pathways/superpathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Transcriptional regulation of pluripotent stem cells. Affiliated tissues include kidney, heart and uterus, and related phenotypes are digestive/alimentary and cardiovascular system

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.

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.

UniProtKB/Swiss-Prot : 66 Townes-Brocks syndrome: Rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss.

Description from OMIM: 107480
GeneReviews: NBK1445

Related Diseases for Townes-Brocks Syndrome

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

(show top 50) (show all 63)
id Related Disease Score Top Affiliating Genes
1 tuberculosis 12.1
2 tuberculous meningitis 11.6
3 multidrug-resistant tuberculosis 11.5
4 miliary tuberculosis 11.1
5 mycobacterium tuberculosis, susceptibility to mycobacterium tuberculosis, protection against, included 11.1
6 tracheobronchomalacia 11.1
7 temple-baraitser syndrome 10.8
8 imperforate anus 10.1
9 rhizomelic chondrodysplasia punctata spectrum 10.1 EYA1 SALL1
10 hypothyroidism 10.1
11 otofaciocervical syndrome 10.1 EYA1 SALL1
12 pancreatic agenesis 2 10.0 EYA1 SALL1
13 pulmonary tuberculosis 10.0
14 hereditary angioedema 10.0 EYA1 SALL1
15 hepatitis 10.0
16 meningitis 9.9
17 single median maxillary central incisor 9.9
18 dysphagia 9.9
19 hemifacial microsomia 9.9
20 microphthalmia 9.9
21 renal dysplasia 9.9
22 end stage renal failure 9.9
23 birth defects 9.9
24 thrombocytopenia 9.9
25 mosaic trisomy 8 9.9
26 congenital hypothyroidism 9.9
27 temple syndrome 9.9 SALL1 SALL4
28 dressler's syndrome 9.9 SALL1 SALL4
29 pleural tuberculosis 9.9
30 viral hepatitis 9.9
31 infertility 9.8
32 lymphadenitis 9.8
33 choroiditis 9.7
34 arthritis 9.7
35 rheumatoid arthritis 9.7
36 extrapulmonary tuberculosis 9.7
37 mycobacterium kansasii 9.7
38 pleurisy 9.7
39 pseudohypoparathyroidism ia 9.7 SALL1 SALL2 SALL4
40 brachyolmia type 3 9.7 SALL4 SHOX2
41 syphilis 9.6
42 pneumonia 9.6
43 uveitis 9.6
44 spondylitis 9.6
45 neuropathy 9.6
46 bronchiolitis obliterans 9.6
47 intestinal tuberculosis 9.6
48 psoriasis 9.6
49 drug-induced hepatitis 9.6
50 hyperparathyroidism 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

Symptoms by clinical synopsis from OMIM:

107480

Clinical features from OMIM:

107480

Human phenotypes related to Townes-Brocks Syndrome:

56 32 (show top 50) (show all 91)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 56 32 Frequent (79-30%) HP:0002019
2 agenesis of corpus callosum 56 32 Occasional (29-5%) HP:0001274
3 hypothyroidism 56 32 Occasional (29-5%) HP:0000821
4 intellectual disability 56 32 Occasional (29-5%) HP:0001249
5 failure to thrive 56 32 Occasional (29-5%) HP:0001508
6 bowel incontinence 56 32 Occasional (29-5%) HP:0002607
7 hearing impairment 56 32 Frequent (79-30%) HP:0000365
8 cataract 56 32 Occasional (29-5%) HP:0000518
9 pes planus 56 32 Frequent (79-30%) HP:0001763
10 abnormality of the vertebrae 56 32 Occasional (29-5%) HP:0003468
11 microtia 56 32 Frequent (79-30%) HP:0008551
12 short stature 56 32 Occasional (29-5%) HP:0004322
13 broad hallux phalanx 56 32 Occasional (29-5%) HP:0010059
14 broad thumb 56 32 Occasional (29-5%) HP:0011304
15 renal insufficiency 56 32 Frequent (79-30%) HP:0000083
16 delayed puberty 56 32 Occasional (29-5%) HP:0000823
17 cranial nerve paralysis 56 32 Occasional (29-5%) HP:0006824
18 abnormality of vision 56 32 Occasional (29-5%) HP:0000504
19 subcutaneous nodule 56 32 Frequent (79-30%) HP:0001482
20 ectopic kidney 56 32 Occasional (29-5%) HP:0000086
21 strabismus 56 32 Occasional (29-5%) HP:0000486
22 patent ductus arteriosus 56 32 Occasional (29-5%) HP:0001643
23 toe clinodactyly 56 32 Frequent (79-30%) HP:0001863
24 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
25 chorioretinal coloboma 56 32 Occasional (29-5%) HP:0000567
26 wide mouth 56 32 Occasional (29-5%) HP:0000154
27 microphthalmia 56 32 Occasional (29-5%) HP:0000568
28 hypospadias 56 32 Occasional (29-5%) HP:0000047
29 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
30 arnold-chiari malformation 56 32 Occasional (29-5%) HP:0002308
31 multiple renal cysts 56 32 Occasional (29-5%) HP:0005562
32 anal atresia 56 32 Very frequent (99-80%) HP:0002023
33 vesicoureteral reflux 56 32 Occasional (29-5%) HP:0000076
34 abnormality of the uterus 56 32 Occasional (29-5%) HP:0000130
35 overfolded helix 56 32 Frequent (79-30%) HP:0000396
36 tetralogy of fallot 56 32 Occasional (29-5%) HP:0001636
37 abnormality of the pulmonary valve 56 32 Occasional (29-5%) HP:0001641
38 renal hypoplasia 56 32 Occasional (29-5%) HP:0000089
39 abnormality of the ribs 56 32 Occasional (29-5%) HP:0000772
40 hypoplasia of penis 56 32 Occasional (29-5%) HP:0008736
41 blepharophimosis 56 32 Occasional (29-5%) HP:0000581
42 iris coloboma 56 32 Occasional (29-5%) HP:0000612
43 preauricular skin tag 56 32 Very frequent (99-80%) HP:0000384
44 bifid scrotum 56 32 Occasional (29-5%) HP:0000048
45 rectovaginal fistula 56 32 Very frequent (99-80%) HP:0000143
46 facial asymmetry 56 32 Occasional (29-5%) HP:0000324
47 epibulbar dermoid 56 32 Occasional (29-5%) HP:0001140
48 preaxial hand polydactyly 56 32 Very frequent (99-80%) HP:0001177
49 triphalangeal thumb 56 32 Very frequent (99-80%) HP:0001199
50 anteriorly placed anus 56 32 Frequent (79-30%) HP:0001545

MGI Mouse Phenotypes related to Townes-Brocks Syndrome:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.93 SHOX2 CTNNB1 EYA1 FOXD1 SALL1 SALL4
2 cardiovascular system MP:0005385 9.89 SALL1 SALL4 SHOX2 CTNNB1 EYA1
3 growth/size/body region MP:0005378 9.88 CTNNB1 EYA1 FOXD1 SALL1 SALL4 SHOX2
4 embryo MP:0005380 9.83 CTNNB1 EYA1 SALL1 SALL2 SALL4
5 mortality/aging MP:0010768 9.8 CTNNB1 EYA1 FOXD1 SALL1 SALL2 SALL4
6 craniofacial MP:0005382 9.78 CTNNB1 EYA1 SALL4 SHOX2
7 nervous system MP:0003631 9.7 CTNNB1 EYA1 FOXD1 SALL1 SALL2 SALL4
8 hearing/vestibular/ear MP:0005377 9.67 CTNNB1 EYA1 SALL1 SALL4
9 limbs/digits/tail MP:0005371 9.62 CTNNB1 SALL1 SALL4 SHOX2
10 renal/urinary system MP:0005367 9.43 CTNNB1 EYA1 FOXD1 SALL1 SALL2 SALL4
11 skeleton MP:0005390 9.02 CTNNB1 EYA1 SALL1 SALL4 SHOX2

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, Uterus, Bone, Skin

Publications for Townes-Brocks Syndrome

Articles related to Townes-Brocks Syndrome:

(show top 50) (show all 62)
id Title Authors Year
1
On-Top Index Pollicization After a Partial Amputation of a Syndactylized Hypoplastic Thumb in a Patient With Townes-Brocks Syndrome. ( 28509696 )
2017
2
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. ( 28054444 )
2017
3
Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. ( 27073431 )
2016
4
Deletion upstream of SALL1 producing Townes-Brocks syndrome. ( 27277004 )
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
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome. ( 23716951 )
2012
9
Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome. ( 22228756 )
2012
10
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. ( 22308078 )
2012
11
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. ( 21253317 )
2010
12
Phenotypic variability in a family with Townes-Brocks syndrome. ( 20520617 )
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
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. ( 20003547 )
2009
17
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. ( 19204018 )
2009
18
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. ( 18813423 )
2008
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
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? ( 17910067 )
2007
23
Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome? ( 17668723 )
2007
24
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
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
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. ( 14627694 )
2003
34
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. ( 12915476 )
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
Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes. ( 12925729 )
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
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. ( 11484202 )
2001
40
Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome. ( 11404093 )
2001
41
SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. ( 11751684 )
2001
42
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. ( 10654325 )
2000
43
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. ( 10819639 )
2000
44
SALL1 mutations in Townes-Brocks syndrome and related disorders. ( 11102974 )
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
Townes-Brocks syndrome. ( 10051003 )
1999
48
Two cases of Townes-Brocks syndrome. ( 10631923 )
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 15)
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, 1-BP DEL, 1819G deletion Pathogenic
8 SALL1 SALL1, 2-BP DEL, 792GC deletion Pathogenic
9 SALL1 NM_002968.2(SALL1): c.967C> T (p.Gln323Ter) single nucleotide variant Pathogenic rs104894538 GRCh37 Chromosome 16, 51175166: 51175166
10 SALL1 NM_002968.2(SALL1): c.1256T> A (p.Leu419Ter) single nucleotide variant Pathogenic rs137853084 GRCh37 Chromosome 16, 51174877: 51174877
11 SALL1 SALL1, 1-BP DEL, 995C deletion Pathogenic
12 SALL1 SALL1, 2-BP DEL, 3414AT deletion Pathogenic
13 SALL1 NM_002968.2(SALL1): c.949C> T (p.Pro317Ser) single nucleotide variant Pathogenic rs864621971 GRCh38 Chromosome 16, 51141273: 51141273
14 SALL1 NM_002968.2(SALL1): c.3160C> T (p.Arg1054Ter) single nucleotide variant Pathogenic rs864321635 GRCh37 Chromosome 16, 51172973: 51172973
15 SALL1 NM_002968.2(SALL1): c.727C> T (p.Gln243Ter) single nucleotide variant Pathogenic rs886044708 GRCh37 Chromosome 16, 51175406: 51175406

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 11.05 CTNNB1 SALL4
2
Show member pathways
10.65 SALL1 SALL4
3 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 nucleus GO:0005634 9.8 CTNNB1 EYA1 FOXD1 SALL1 SALL2 SALL4
2 protein complex GO:0043234 9.5 CTNNB1 EYA1 SALL4
3 protein-DNA complex GO:0032993 9.16 CTNNB1 EYA1
4 heterochromatin GO:0000792 8.96 SALL1 SALL4
5 NuRD complex GO:0016581 8.62 SALL1 SALL2

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.88 CTNNB1 EYA1 FOXD1 SALL1 SALL2 SALL4
2 negative regulation of transcription, DNA-templated GO:0045892 9.73 CTNNB1 FOXD1 SALL1 SALL2
3 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.72 CTNNB1 SALL1 SALL2 SALL4 SHOX2
4 regulation of transcription, DNA-templated GO:0006355 9.7 CTNNB1 EYA1 FOXD1 SALL1 SALL2 SALL4
5 kidney development GO:0001822 9.6 CTNNB1 SALL1
6 somatic stem cell population maintenance GO:0035019 9.59 SALL1 SALL4
7 neurogenesis GO:0022008 9.58 SALL1 SALL4
8 embryonic digit morphogenesis GO:0042733 9.58 CTNNB1 SALL1
9 stem cell population maintenance GO:0019827 9.57 CTNNB1 SALL4
10 embryonic limb morphogenesis GO:0030326 9.56 SALL4 SHOX2
11 heart development GO:0007507 9.56 CTNNB1 SALL1 SALL4 SHOX2
12 cellular protein localization GO:0034613 9.55 CTNNB1 EYA1
13 neural tube development GO:0021915 9.54 SALL2 SALL4
14 ureteric bud development GO:0001657 9.52 EYA1 SALL1
15 limb development GO:0060173 9.51 CTNNB1 SALL1
16 embryonic forelimb morphogenesis GO:0035115 9.49 CTNNB1 SHOX2
17 ventricular septum development GO:0003281 9.48 SALL1 SALL4
18 positive regulation of mesenchymal cell proliferation GO:0002053 9.46 CTNNB1 SHOX2
19 outer ear morphogenesis GO:0042473 9.37 EYA1 SALL1
20 branching involved in ureteric bud morphogenesis GO:0001658 9.13 CTNNB1 EYA1 SALL1
21 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.1 CTNNB1 EYA1 FOXD1 SALL1 SALL4 SHOX2

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 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.5 CTNNB1 FOXD1 SALL1
4 transcription regulatory region DNA binding GO:0044212 9.26 CTNNB1 SALL1 SALL2 SALL4
5 sequence-specific DNA binding GO:0043565 9.02 FOXD1 SALL1 SALL2 SALL4 SHOX2

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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