MCID: TWN003
MIFTS: 55

Townes-Brocks Syndrome 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:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Townes-Brocks Syndrome:

Name: Townes-Brocks Syndrome 50 11 22 46 23 24 13 52 68 48
Townes Syndrome 46 24 52 25
Townes-Brocks Branchiootorenal-Like Syndrome 50 68 12
Renal-Ear-Anal-Radial Syndrome 46 24 52
Tbs 46 52 68
Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs 46 52
Imperforate Anus with Hand, Foot and Ear Anomalies 46 52
 
Rear Syndrome 46 52
Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs 46
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 24
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 24
Anus, Imperforate, with Hand, Foot and Ear Anomalies 46
Imperforate Anus-Hand and Foot Anomalies Syndrome 24
Anal-Ear-Renal-Radial Malformation Syndrome 24

Characteristics:

Orphanet epidemiological data:

52
townes-brocks syndrome:
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age

HPO:

62
townes-brocks syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 107480
Disease Ontology11 DOID:0050887
Orphanet52 ORPHA857
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C536974
UMLS via Orphanet67 C0265246

Summaries for Townes-Brocks Syndrome

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NIH Rare Diseases:46 Townes-brocks syndrome is a genetic condition characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. most affected individuals have at least two of these three main features. 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. it follows an autosomal dominant pattern of inheritance. last updated: 3/25/2015

MalaCards based summary: Townes-Brocks Syndrome, also known as townes syndrome, is related to tuberculosis and tuberculous meningitis, and has symptoms including preauricular skin tag, preaxial hand polydactyly and triphalangeal thumb. 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, uterus and skin, and related mouse phenotypes are hearing/vestibular/ear and embryo.

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.

UniProtKB/Swiss-Prot:68 Townes-Brocks syndrome: Rare, autosomal dominant malformation syndrome with a combination of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss.

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.

Description from OMIM:50 107480

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 66)
idRelated DiseaseScoreTop Affiliating Genes
1tuberculosis11.8
2tuberculous meningitis11.5
3temple-baraitser syndrome10.9
4multidrug-resistant tuberculosis10.8
5miliary tuberculosis10.5
6imperforate anus10.2
7hypothyroidism10.2
8mycobacterium tuberculosis, susceptibility to mycobacterium tuberculosis, protection against, included10.2
9tracheobronchomalacia10.2
10pulmonary tuberculosis10.2
11hepatitis10.1
12single median maxillary central incisor10.1
13hemifacial microsomia10.1
14end stage renal failure10.1
15thrombocytopenia10.1
16congenital hypothyroidism10.1
17microphthalmia10.1
18birth defects10.1
19mosaic trisomy 810.1
20dysphagia10.1
21renal dysplasia10.1
22meningitis10.0
23renal tubular dysgenesis, agt-related10.0EYA1, SALL1
24pancreatic and cerebellar agenesis10.0EYA1, SALL1
25pleural tuberculosis10.0
26viral hepatitis10.0
27pseudohypoparathyroidism ia10.0SALL1, SALL4
28microphthalmia, isolated 110.0SALL1, SALL4
29infertility10.0
30orbital granuloma9.9SALL1, SALL4
31autosomal dominant microcephaly9.9EYA1, SALL1
32rheumatoid arthritis9.9
33arthritis9.9
34extrapulmonary tuberculosis9.9
35pleurisy9.9
36choroiditis9.9
37lymphadenitis9.9
38mycobacterium kansasii9.9
39leprosy9.8
40bronchiolitis obliterans9.8
41drug-induced hepatitis9.8
42silicosis9.8
43abdominal tuberculosis9.8
44primary hyperparathyroidism9.8
45uveitis9.8
46intestinal tuberculosis9.8
47hyperparathyroidism9.8
48gaucher's disease9.8
49orchitis9.8
50bronchiolitis9.8

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



Diseases related to townes-brocks syndrome

Symptoms for Townes-Brocks Syndrome

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Symptoms by clinical synopsis from OMIM:

107480

Clinical features from OMIM:

107480

Symptoms:

 52 (show all 66)
  • cryptorchidism
  • hypospadias
  • bifid scrotum
  • vesicoureteral reflux
  • abnormality of the kidney
  • renal insufficiency
  • ectopic kidney
  • renal hypoplasia
  • abnormality of the uterus
  • abnormality of the vagina
  • rectovaginal fistula
  • wide mouth
  • facial asymmetry
  • hearing impairment
  • preauricular skin tag
  • overfolded helix
  • strabismus
  • abnormality of vision
  • cataract
  • chorioretinal coloboma
  • microphthalmos
  • blepharophimosis
  • iris coloboma
  • abnormality of the ribs
  • hypothyroidism
  • delayed puberty
  • epibulbar dermoid
  • preaxial hand polydactyly
  • triphalangeal thumb
  • intellectual disability
  • agenesis of corpus callosum
  • subcutaneous nodule
  • failure to thrive
  • anteriorly placed anus
  • defect in the atrial septum
  • tetralogy of fallot
  • abnormality of the pulmonary valve
  • patent ductus arteriosus
  • abnormality of the cardiac septa
  • abnormality of the foot
  • pes planus
  • toe syndactyly
  • toe clinodactyly
  • constipation
  • anal atresia
  • arnold-chiari malformation
  • malformation of the heart and great vessels
  • bowel incontinence
  • abnormality of the vertebrae
  • clinodactyly of the 5th finger
  • short stature
  • rectoperineal fistula
  • multiple renal cysts
  • cranial nerve paralysis
  • microtia
  • external ear malformation
  • hypoplasia of penis
  • ulnar deviation of finger
  • abnormality of the tragus
  • partial duplication of thumb phalanx
  • broad hallux phalanx
  • aplasia/hypoplasia of the 3rd toe
  • urethral valve
  • absent toe
  • broad thumb
  • lower limb asymmetry

HPO human phenotypes related to Townes-Brocks Syndrome:

(show all 90)
id Description Frequency HPO Source Accession
1 preauricular skin tag hallmark (90%) HP:0000384
2 preaxial hand polydactyly hallmark (90%) HP:0001177
3 triphalangeal thumb hallmark (90%) HP:0001199
4 external ear malformation hallmark (90%) HP:0008572
5 urogenital fistula hallmark (90%) HP:0100589
6 cryptorchidism typical (50%) HP:0000028
7 renal insufficiency typical (50%) HP:0000083
8 hearing impairment typical (50%) HP:0000365
9 preauricular skin tag typical (50%) HP:0000384
10 sensorineural hearing impairment typical (50%) HP:0000407
11 triphalangeal thumb typical (50%) HP:0001199
12 pes planus typical (50%) HP:0001763
13 camptodactyly of toe typical (50%) HP:0001836
14 clinodactyly of the 5th toe typical (50%) HP:0001864
15 constipation typical (50%) HP:0002019
16 clinodactyly of the 5th finger typical (50%) HP:0004209
17 ectopic anus typical (50%) HP:0004397
18 preauricular pit typical (50%) HP:0004467
19 microtia typical (50%) HP:0008551
20 anal atresia 46.9697% HP:0002023
21 multicystic kidney dysplasia occasional (7.5%) HP:0000003
22 bifid scrotum occasional (7.5%) HP:0000048
23 vesicoureteral reflux occasional (7.5%) HP:0000076
24 renal insufficiency occasional (7.5%) HP:0000083
25 renal hypoplasia occasional (7.5%) HP:0000089
26 renal dysplasia occasional (7.5%) HP:0000110
27 abnormality of the vagina occasional (7.5%) HP:0000142
28 wide mouth occasional (7.5%) HP:0000154
29 facial asymmetry occasional (7.5%) HP:0000324
30 strabismus occasional (7.5%) HP:0000486
31 visual impairment occasional (7.5%) HP:0000505
32 cataract occasional (7.5%) HP:0000518
33 chorioretinal coloboma occasional (7.5%) HP:0000567
34 blepharophimosis occasional (7.5%) HP:0000581
35 iris coloboma occasional (7.5%) HP:0000612
36 abnormality of the ribs occasional (7.5%) HP:0000772
37 hypothyroidism occasional (7.5%) HP:0000821
38 epibulbar dermoid occasional (7.5%) HP:0001140
39 atria septal defect occasional (7.5%) HP:0001631
40 tetralogy of fallot occasional (7.5%) HP:0001636
41 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
42 patent ductus arteriosus occasional (7.5%) HP:0001643
43 toe syndactyly occasional (7.5%) HP:0001770
44 split foot occasional (7.5%) HP:0001839
45 preaxial foot polydactyly occasional (7.5%) HP:0001841
46 arnold-chiari malformation occasional (7.5%) HP:0002308
47 bowel incontinence occasional (7.5%) HP:0002607
48 short stature occasional (7.5%) HP:0004322
49 cranial nerve paralysis occasional (7.5%) HP:0006824
50 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
51 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
52 hypoplasia of penis occasional (7.5%) HP:0008736
53 ulnar deviation of finger occasional (7.5%) HP:0009465
54 abnormality of the tragus occasional (7.5%) HP:0009912
55 2-4 finger syndactyly occasional (7.5%) HP:0010709
56 abnormal localization of kidney occasional (7.5%) HP:0100542
57 cognitive impairment occasional (7.5%) HP:0100543
58 lower limb asymmetry occasional (7.5%) HP:0100559
59 displacement of the external urethral meatus occasional (7.5%) HP:0100627
60 duane anomaly rare (5%) HP:0009921
61 cryptorchidism HP:0000028
62 hypospadias HP:0000047
63 bifid scrotum HP:0000048
64 bifid uterus HP:0000136
65 rectovaginal fistula HP:0000143
66 microcephaly HP:0000252
67 macrotia HP:0000400
68 chorioretinal coloboma HP:0000567
69 hypothyroidism HP:0000821
70 preaxial hand polydactyly HP:0001177
71 intellectual disability HP:0001249
72 metatarsal synostosis HP:0001440
73 umbilical hernia HP:0001537
74 ventricular septal defect HP:0001629
75 tetralogy of fallot HP:0001636
76 gastroesophageal reflux HP:0002020
77 anal stenosis HP:0002025
78 duodenal atresia HP:0002247
79 overfolding of the superior helices HP:0004453
80 2-3 toe syndactyly HP:0004691
81 rectoperineal fistula HP:0004792
82 3-4 finger syndactyly HP:0006097
83 pseudoepiphyses of second metacarpal HP:0006179
84 3-4 toe syndactyly HP:0009779
85 partial duplication of thumb phalanx HP:0009944
86 aplasia/hypoplasia of the 3rd toe HP:0010331
87 urethral valve HP:0010481
88 short metatarsal HP:0010743
89 broad thumb HP:0011304
90 stahl ear HP:0100015

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 Syndrome25
2 Townes-Brocks Syndrome23 SALL1

Anatomical Context for Townes-Brocks Syndrome

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MalaCards organs/tissues related to Townes-Brocks Syndrome:

34
Kidney, Uterus, Skin, Heart, Bone, Eye

Animal Models for Townes-Brocks Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Townes-Brocks Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1CTNNB1, EYA1, SALL1, SALL4
2MP:00053808.4CTNNB1, EYA1, SALL1, SALL2, SALL4
3MP:00053908.1CTNNB1, EYA1, PLCB4, SALL1, SALL4
4MP:00053818.1CTNNB1, EYA1, FOXD1, SALL1, SALL4
5MP:00053917.7CTNNB1, EYA1, FOXD1, PLCB4, SALL4
6MP:00053677.3CTNNB1, EYA1, FOXD1, SALL1, SALL2, SALL4
7MP:00053787.2CTNNB1, EYA1, FOXD1, PLCB4, SALL1, SALL4
8MP:00053867.0CTNNB1, EYA1, FOXD1, PLCB4, SALL1, SALL4
9MP:00107686.9CTNNB1, EYA1, FOXD1, PLCB4, SALL1, SALL2
10MP:00036316.9CTNNB1, EYA1, FOXD1, PLCB4, SALL1, SALL2

Publications for Townes-Brocks Syndrome

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Articles related to Townes-Brocks Syndrome:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. (27073431)
2016
2
Deletion upstream of SALL1 producing Townes-Brocks syndrome. (27277004)
2016
3
Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome. (25192472)
2014
4
Endocrine abnormalities in Townes-Brocks syndrome. (23894113)
2013
5
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome. (23716951)
2012
6
Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome. (22228756)
2012
7
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. (22308078)
2012
8
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. (21253317)
2010
9
Phenotypic variability in a family with Townes-Brocks syndrome. (20520617)
2010
10
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. (19737635)
2009
11
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. (19291771)
2009
12
Townes-Brocks syndrome--airway management conditions improve with age: report of follow up of a single case. (19236659)
2009
13
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. (19204018)
2009
14
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. (20003547)
2009
15
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. (18470945)
2008
16
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. (18813423)
2008
17
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). (19005989)
2008
18
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. (18280297)
2008
19
Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome? (17668723)
2007
20
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. (17221874)
2007
21
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? (17910067)
2007
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
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
24
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. (16892410)
2006
25
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. (16470706)
2006
26
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. (16088922)
2005
27
Townes-Brocks syndrome. (15297694)
2004
28
Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. (15158448)
2004
29
Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes. (12925729)
2003
30
Somatic mosaicism and variable expression of Townes-Brocks syndrome. (12210359)
2002
31
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
32
Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome. (11404093)
2001
33
SALL1 mutations in Townes-Brocks syndrome and related disorders. (11102974)
2000
34
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. (10819639)
2000
35
Townes-Brocks syndrome. (10051003)
1999
36
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. (9973281)
1999
37
Two cases of Townes-Brocks syndrome. (10631923)
1999
38
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. (9425907)
1998
39
Two cases of Townes-Brocks syndrome with previously undescribed anomalies. (9823498)
1998
40
Townes-Brocks syndrome presenting as end stage renal failure. (9072124)
1997
41
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. (8669439)
1996
42
Townes-Brocks syndrome associated with mental retardation. (8669452)
1996
43
Hearing loss in Townes-Brocks syndrome. (8084622)
1994
44
Townes-Brocks syndrome in an infant with translocation t (5;16). (8357560)
1993
45
Townes-Brocks Syndrome (20301618)
1993
46
Townes-Brocks syndrome in two mentally retarded youngsters. (1951448)
1991
47
The Townes-Brocks syndrome. (2395165)
1990
48
Townes-Brocks syndrome. (2279502)
1990
49
A new family with the Townes-Brocks syndrome. (3180506)
1988
50
Phenotypic variability in Townes-Brocks syndrome. (6741990)
1984

Variations for Townes-Brocks Syndrome

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Clinvar genetic disease variations for Townes-Brocks Syndrome:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1SALL1NM_002968.2(SALL1): c.949C> T (p.Pro317Ser)single nucleotide variantPathogenicrs864621971GRCh38Chr 16, 51141273: 51141273
2SALL1NM_002968.2(SALL1): c.3160C> T (p.Arg1054Ter)single nucleotide variantPathogenicrs864321635GRCh37Chr 16, 51172973: 51172973
3SALL1SALL1, 1-BP DEL, 1268CdeletionPathogenic
4SALL1NM_002968.2(SALL1): c.1115C> A (p.Ser372Ter)single nucleotide variantPathogenicrs104894535GRCh37Chr 16, 51175018: 51175018
5SALL1NM_002968.2(SALL1): c.826C> T (p.Arg276Ter)single nucleotide variantPathogenicrs104894537GRCh37Chr 16, 51175307: 51175307
6SALL1NM_002968.2(SALL1): c.1115C> G (p.Ser372Ter)single nucleotide variantPathogenicrs104894535GRCh37Chr 16, 51175018: 51175018
7SALL1SALL1, 2-BP DEL, NT1277deletionPathogenic
8SALL1SALL1, 2-BP DEL, 1347CAdeletionPathogenic
9SALL1SALL1, 2-BP DEL, 792GCdeletionPathogenic
10SALL1NM_002968.2(SALL1): c.1256T> A (p.Leu419Ter)single nucleotide variantPathogenicrs137853084GRCh37Chr 16, 51174877: 51174877
11SALL1SALL1, 1-BP DEL, 995CdeletionPathogenic
12SALL1SALL1, 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
1protein-DNA complexGO:003299310.2CTNNB1, EYA1
2NuRD complexGO:001658110.2SALL1, SALL2
3heterochromatinGO:00007929.9SALL1, SALL4
4protein complexGO:00432349.2CTNNB1, EYA1, SALL4
5nucleusGO:00056346.7CTNNB1, EYA1, FOXD1, PLCB4, SALL1, SALL2

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:004247310.4EYA1, SALL1
2embryonic digit morphogenesisGO:004273310.2CTNNB1, SALL1
3limb developmentGO:006017310.2CTNNB1, SALL1
4ureteric bud developmentGO:000165710.1EYA1, SALL1
5cellular protein localizationGO:003461310.0CTNNB1, EYA1
6ventricular septum developmentGO:00032819.9SALL1, SALL4
7somatic stem cell population maintenanceGO:00350199.8SALL1, SALL4
8neural tube developmentGO:00219159.8SALL2, SALL4
9stem cell population maintenanceGO:00198279.5CTNNB1, SALL4
10kidney developmentGO:00018229.3CTNNB1, FOXD1, SALL1
11heart developmentGO:00075079.1CTNNB1, SALL1, SALL4
12branching involved in ureteric bud morphogenesisGO:00016588.8CTNNB1, EYA1, FOXD1, SALL1
13transcription from RNA polymerase II promoterGO:00063668.8FOXD1, SALL2, SALL4
14negative regulation of transcription, DNA-templatedGO:00458928.5CTNNB1, FOXD1, SALL1, SALL2
15negative regulation of transcription from RNA polymerase II promoterGO:00001228.2CTNNB1, SALL1, SALL2, SALL4
16positive regulation of transcription from RNA polymerase II promoterGO:00459447.8CTNNB1, EYA1, FOXD1, SALL1, SALL4

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442128.8CTNNB1, SALL1, SALL2, SALL4
2sequence-specific DNA bindingGO:00435658.1FOXD1, SALL1, SALL2, SALL4
3transcription factor activity, sequence-specific DNA bindingGO:00037007.6CTNNB1, FOXD1, SALL1, SALL2, SALL4

Sources for Townes-Brocks Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet