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

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Townes-Brocks Syndrome:

Name: Townes-Brocks Syndrome 52 11 23 48 24 25 54 70 50 13
Townes Syndrome 48 25 54 27
Townes-Brocks Branchiootorenal-Like Syndrome 52 70 12
Renal-Ear-Anal-Radial Syndrome 48 25 54
Tbs 48 54 70
Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs 48 54
Imperforate Anus with Hand, Foot and Ear Anomalies 48 54
 
Rear Syndrome 48 54
Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs 48
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 25
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 25
Anus, Imperforate, with Hand, Foot and Ear Anomalies 48
Imperforate Anus-Hand and Foot Anomalies Syndrome 25
Anal-Ear-Renal-Radial Malformation Syndrome 25

Characteristics:

Orphanet epidemiological data:

54
townes-brocks syndrome:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age

HPO:

64
townes-brocks syndrome:
Inheritance: autosomal dominant inheritance

GeneReviews:

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


Classifications:



External Ids:

OMIM52 107480
Disease Ontology11 DOID:0050887
Orphanet54 ORPHA857
MESH via Orphanet40 C536974
UMLS via Orphanet69 C0265246
ICD10 via Orphanet31 Q87.8

Summaries for Townes-Brocks Syndrome

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Townes-Brocks Syndrome is SALL1 (Spalt Like Transcription Factor 1), and among its related pathways are Transcriptional regulation of pluripotent stem cells and Regulation of Wnt-mediated beta catenin signaling and target gene transcription. Affiliated tissues include kidney, heart and uterus, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Disease Ontology:11 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:70 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:52 107480

GeneReviews for NBK1445

Related Diseases for Townes-Brocks Syndrome

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

(show top 50)    (show all 63)
idRelated DiseaseScoreTop Affiliating Genes
1tuberculosis12.1
2tuberculous meningitis11.6
3multidrug-resistant tuberculosis11.5
4miliary tuberculosis11.1
5mycobacterium tuberculosis, susceptibility to mycobacterium tuberculosis, protection against, included11.1
6tracheobronchomalacia11.1
7temple-baraitser syndrome10.8
8imperforate anus10.1
9rhizomelic chondrodysplasia punctata spectrum10.1EYA1, SALL1
10hypothyroidism10.1
11otofaciocervical syndrome10.1EYA1, SALL1
12pancreatic agenesis 210.0EYA1, SALL1
13pulmonary tuberculosis10.0
14hereditary angioedema10.0EYA1, SALL1
15hepatitis10.0
16meningitis9.9
17single median maxillary central incisor9.9
18hemifacial microsomia9.9
19end stage renal failure9.9
20thrombocytopenia9.9
21congenital hypothyroidism9.9
22microphthalmia9.9
23birth defects9.9
24mosaic trisomy 89.9
25dysphagia9.9
26renal dysplasia9.9
27temple syndrome9.9SALL1, SALL4
28dressler's syndrome9.9SALL1, SALL4
29pleural tuberculosis9.9
30viral hepatitis9.9
31infertility9.8
32lymphadenitis9.8
33rheumatoid arthritis9.7
34arthritis9.7
35extrapulmonary tuberculosis9.7
36pleurisy9.7
37choroiditis9.7
38mycobacterium kansasii9.7
39pseudohypoparathyroidism ia9.7SALL1, SALL2, SALL4
40brachyolmia type 39.7SALL4, SHOX2
41leprosy9.6
42bronchiolitis obliterans9.6
43drug-induced hepatitis9.6
44silicosis9.6
45abdominal tuberculosis9.6
46uveitis9.6
47intestinal tuberculosis9.6
48hyperparathyroidism9.6
49gaucher's disease9.6
50orchitis9.6

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



Diseases related to townes-brocks syndrome

Symptoms & Phenotypes for Townes-Brocks Syndrome

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Symptoms by clinical synopsis from OMIM:

107480

Clinical features from OMIM:

107480

Human phenotypes related to Townes-Brocks Syndrome:

 54 64 (show all 91)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Frequent (79-30%) HP:0000028
2 hypospadias64 54 Occasional (29-5%) HP:0000047
3 bifid scrotum64 54 Occasional (29-5%) HP:0000048
4 vesicoureteral reflux64 54 Occasional (29-5%) HP:0000076
5 abnormality of the kidney54 Occasional (29-5%)
6 renal insufficiency64 54 Frequent (79-30%) HP:0000083
7 ectopic kidney64 54 Occasional (29-5%) HP:0000086
8 renal hypoplasia64 54 Occasional (29-5%) HP:0000089
9 abnormality of the uterus64 54 Occasional (29-5%) HP:0000130
10 abnormality of the vagina54 Occasional (29-5%)
11 rectovaginal fistula64 54 Very frequent (99-80%) HP:0000143
12 wide mouth64 54 Occasional (29-5%) HP:0000154
13 facial asymmetry64 54 Occasional (29-5%) HP:0000324
14 hearing impairment64 54 Frequent (79-30%) HP:0000365
15 preauricular skin tag64 54 Very frequent (99-80%) HP:0000384
16 overfolded helix64 54 Frequent (79-30%) HP:0000396
17 strabismus64 54 Occasional (29-5%) HP:0000486
18 abnormality of vision64 54 Occasional (29-5%) HP:0000504
19 cataract64 54 Occasional (29-5%) HP:0000518
20 chorioretinal coloboma64 54 Occasional (29-5%) HP:0000567
21 microphthalmia64 54 Occasional (29-5%) HP:0000568
22 blepharophimosis64 54 Occasional (29-5%) HP:0000581
23 iris coloboma64 54 Occasional (29-5%) HP:0000612
24 abnormality of the ribs64 54 Occasional (29-5%) HP:0000772
25 hypothyroidism64 54 Occasional (29-5%) HP:0000821
26 delayed puberty64 54 Occasional (29-5%) HP:0000823
27 epibulbar dermoid64 54 Occasional (29-5%) HP:0001140
28 preaxial hand polydactyly64 54 Very frequent (99-80%) HP:0001177
29 triphalangeal thumb64 54 Very frequent (99-80%) HP:0001199
30 intellectual disability64 54 Occasional (29-5%) HP:0001249
31 agenesis of corpus callosum64 54 Occasional (29-5%) HP:0001274
32 subcutaneous nodule64 54 Frequent (79-30%) HP:0001482
33 failure to thrive64 54 Occasional (29-5%) HP:0001508
34 anteriorly placed anus64 54 Frequent (79-30%) HP:0001545
35 atria septal defect54 Occasional (29-5%)
36 tetralogy of fallot64 54 Occasional (29-5%) HP:0001636
37 abnormality of the pulmonary valve64 54 Occasional (29-5%) HP:0001641
38 patent ductus arteriosus64 54 Occasional (29-5%) HP:0001643
39 abnormality of the cardiac septa54 Occasional (29-5%)
40 abnormality of the foot54 Frequent (79-30%)
41 pes planus64 54 Frequent (79-30%) HP:0001763
42 toe syndactyly64 54 Occasional (29-5%) HP:0001770
43 toe clinodactyly64 54 Frequent (79-30%) HP:0001863
44 constipation64 54 Frequent (79-30%) HP:0002019
45 anal atresia64 54 Very frequent (99-80%) HP:0002023
46 arnold-chiari malformation64 54 Occasional (29-5%) HP:0002308
47 malformation of the heart and great vessels54 Occasional (29-5%)
48 bowel incontinence64 54 Occasional (29-5%) HP:0002607
49 abnormality of the vertebrae64 54 Occasional (29-5%) HP:0003468
50 clinodactyly of the 5th finger64 54 Frequent (79-30%) HP:0004209
51 short stature64 54 Occasional (29-5%) HP:0004322
52 rectoperineal fistula64 54 Very frequent (99-80%) HP:0004792
53 multiple renal cysts64 54 Occasional (29-5%) HP:0005562
54 cranial nerve paralysis64 54 Occasional (29-5%) HP:0006824
55 microtia64 54 Frequent (79-30%) HP:0008551
56 external ear malformation64 54 Very frequent (99-80%) HP:0008572
57 hypoplasia of penis64 54 Occasional (29-5%) HP:0008736
58 ulnar deviation of finger64 54 Occasional (29-5%) HP:0009465
59 abnormality of the tragus64 54 Occasional (29-5%) HP:0009912
60 partial duplication of thumb phalanx64 54 Occasional (29-5%) HP:0009944
61 broad hallux phalanx64 54 Occasional (29-5%) HP:0010059
62 aplasia/hypoplasia of the 3rd toe64 54 Occasional (29-5%) HP:0010331
63 urethral valve64 54 Occasional (29-5%) HP:0010481
64 absent toe54 Occasional (29-5%)
65 broad thumb64 54 Occasional (29-5%) HP:0011304
66 lower limb asymmetry64 54 Occasional (29-5%) HP:0100559
67 multicystic kidney dysplasia64 HP:0000003
68 renal dysplasia64 HP:0000110
69 bifid uterus64 HP:0000136
70 microcephaly64 HP:0000252
71 macrotia64 HP:0000400
72 sensorineural hearing impairment64 HP:0000407
73 metatarsal synostosis64 HP:0001440
74 umbilical hernia64 HP:0001537
75 ventricular septal defect64 HP:0001629
76 clinodactyly of the 5th toe64 HP:0001864
77 gastroesophageal reflux64 HP:0002020
78 anal stenosis64 HP:0002025
79 duodenal atresia64 HP:0002247
80 overfolding of the superior helices64 HP:0004453
81 preauricular pit64 HP:0004467
82 2-3 toe syndactyly64 HP:0004691
83 3-4 finger syndactyly64 HP:0006097
84 pseudoepiphyses of second metacarpal64 HP:0006179
85 3-4 toe syndactyly64 HP:0009779
86 duane anomaly64 HP:0009921
87 2-4 finger syndactyly64 HP:0010709
88 short metatarsal64 HP:0010743
89 satyr ear64 HP:0030676
90 stahl ear64 HP:0100015
91 atrial septal defect64 HP:0001631

MGI Mouse Phenotypes related to Townes-Brocks Syndrome according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.2CTNNB1, EYA1, SALL1, SALL4
2MP:00053719.1CTNNB1, SALL1, SALL4, SHOX2
3MP:00053829.1CTNNB1, EYA1, SALL4, SHOX2
4MP:00053858.8CTNNB1, EYA1, SALL1, SALL4, SHOX2
5MP:00053808.6CTNNB1, EYA1, SALL1, SALL2, SALL4
6MP:00053818.2CTNNB1, EYA1, FOXD1, SALL1, SALL4, SHOX2
7MP:00053788.2CTNNB1, EYA1, FOXD1, SALL1, SALL4, SHOX2
8MP:00053677.9CTNNB1, EYA1, FOXD1, SALL1, SALL2, SALL4
9MP:00053907.9CTNNB1, EYA1, SALL1, SALL4, SHOX2
10MP:00107687.6CTNNB1, EYA1, FOXD1, SALL1, SALL2, SALL4
11MP:00036317.5CTNNB1, EYA1, FOXD1, SALL1, SALL2, SALL4

Drugs & Therapeutics for Townes-Brocks Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Townes-Brocks Syndrome

Genetic Tests for Townes-Brocks Syndrome

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Genetic tests related to Townes-Brocks Syndrome:

id Genetic test Affiliating Genes
1 Townes Syndrome27
2 Townes-Brocks Syndrome24 SALL1

Anatomical Context for Townes-Brocks Syndrome

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MalaCards organs/tissues related to Townes-Brocks Syndrome:

36
Kidney, Heart, Uterus, Bone, Skin

Publications for Townes-Brocks Syndrome

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Articles related to Townes-Brocks Syndrome:

(show top 50)    (show all 62)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Townes-Brocks Syndrome:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1SALL1NM_ 002968.2(SALL1): c.949C> T (p.Pro317Ser)SNVPathogenicrs864621971GRCh38Chr 16, 51141273: 51141273
2SALL1NM_ 002968.2(SALL1): c.3160C> T (p.Arg1054Ter)SNVPathogenicrs864321635GRCh37Chr 16, 51172973: 51172973
3SALL1NM_ 002968.2(SALL1): c.727C> T (p.Gln243Ter)SNVPathogenicrs886044708GRCh37Chr 16, 51175406: 51175406
4SALL1SALL1, 1-BP DEL, 1268CdeletionPathogenic
5SALL1NM_ 002968.2(SALL1): c.1115C> A (p.Ser372Ter)SNVPathogenicrs104894535GRCh37Chr 16, 51175018: 51175018
6SALL1NM_ 002968.2(SALL1): c.826C> T (p.Arg276Ter)SNVPathogenicrs104894537GRCh37Chr 16, 51175307: 51175307
7SALL1NM_ 002968.2(SALL1): c.1115C> G (p.Ser372Ter)SNVPathogenicrs104894535GRCh37Chr 16, 51175018: 51175018
8SALL1SALL1, 2-BP DEL, NT1277deletionPathogenic
9SALL1SALL1, 2-BP DEL, 1347CAdeletionPathogenic
10SALL1SALL1, 2-BP DEL, 792GCdeletionPathogenic
11SALL1NM_ 002968.2(SALL1): c.1256T> A (p.Leu419Ter)SNVPathogenicrs137853084GRCh37Chr 16, 51174877: 51174877
12SALL1SALL1, 1-BP DEL, 995CdeletionPathogenic
13SALL1SALL1, 2-BP DEL, 3414ATdeletionPathogenic

Expression for genes affiliated with Townes-Brocks Syndrome

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

Pathways for genes affiliated with Townes-Brocks Syndrome

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GO Terms for genes affiliated with Townes-Brocks Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1NuRD complexGO:001658110.1SALL1, SALL2
2heterochromatinGO:000079210.1SALL1, SALL4
3protein-DNA complexGO:00329939.5CTNNB1, EYA1
4protein complexGO:00432349.1CTNNB1, EYA1, SALL4
5nucleusGO:00056347.4CTNNB1, EYA1, FOXD1, SALL1, SALL2, SALL4

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:004247310.5EYA1, SALL1
2embryonic digit morphogenesisGO:004273310.4CTNNB1, SALL1
3kidney developmentGO:000182210.4CTNNB1, SALL1
4limb developmentGO:006017310.4CTNNB1, SALL1
5cellular protein localizationGO:003461310.4CTNNB1, EYA1
6embryonic forelimb morphogenesisGO:003511510.3CTNNB1, SHOX2
7positive regulation of mesenchymal cell proliferationGO:000205310.3CTNNB1, SHOX2
8neurogenesisGO:002200810.1SALL1, SALL4
9ureteric bud developmentGO:000165710.1EYA1, SALL1
10somatic stem cell population maintenanceGO:003501910.0SALL1, SALL4
11embryonic limb morphogenesisGO:003032610.0SALL4, SHOX2
12branching involved in ureteric bud morphogenesisGO:000165810.0CTNNB1, EYA1, SALL1
13stem cell population maintenanceGO:00198279.9CTNNB1, SALL4
14neural tube developmentGO:00219159.8SALL2, SALL4
15ventricular septum developmentGO:00032819.3SALL1, SALL4
16negative regulation of transcription, DNA-templatedGO:00458929.2CTNNB1, FOXD1, SALL1, SALL2
17heart developmentGO:00075079.1CTNNB1, SALL1, SALL4, SHOX2
18negative regulation of transcription from RNA polymerase II promoterGO:00001228.5CTNNB1, SALL1, SALL2, SALL4, SHOX2
19positive regulation of transcription from RNA polymerase II promoterGO:00459448.2CTNNB1, EYA1, FOXD1, SALL1, SALL4, SHOX2
20transcription, DNA-templatedGO:00063517.7CTNNB1, EYA1, FOXD1, SALL1, SALL2, SALL4
21regulation of transcription, DNA-templatedGO:00063557.5CTNNB1, EYA1, FOXD1, SALL1, SALL2, SALL4

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.8CTNNB1, FOXD1, SALL1
2sequence-specific DNA bindingGO:00435658.4FOXD1, SALL1, SALL2, SALL4, SHOX2
3transcription factor activity, sequence-specific DNA bindingGO:00037008.2CTNNB1, FOXD1, SALL1, SALL2, SALL4
4transcription regulatory region DNA bindingGO:00442128.1CTNNB1, SALL1, SALL2, SALL4
5DNA bindingGO:00036777.9CTNNB1, FOXD1, SALL1, SALL2, SALL4, SHOX2

Sources for Townes-Brocks Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet