MCID: TWN003
MIFTS: 53

Townes-Brocks Syndrome malady

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

Aliases & Classifications for Townes-Brocks Syndrome

About this section
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

About this section
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 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, 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

About this section

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1tuberculosis12.0
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
9hypothyroidism10.1
10pulmonary tuberculosis10.0
11renal tubular dysgenesis, agt-related10.0EYA1, SALL1
12pancreatic and cerebellar agenesis10.0EYA1, SALL1
13hepatitis10.0
14meningitis9.9
15single median maxillary central incisor9.9
16hemifacial microsomia9.9
17end stage renal failure9.9
18thrombocytopenia9.9
19congenital hypothyroidism9.9
20microphthalmia9.9
21birth defects9.9
22mosaic trisomy 89.9
23dysphagia9.9
24renal dysplasia9.9
25autosomal dominant microcephaly9.9EYA1, SALL1
26pleural tuberculosis9.9
27viral hepatitis9.9
28infertility9.8
29pseudohypoparathyroidism ia9.8SALL1, SALL4
30lymphadenitis9.8
31microphthalmia, isolated 19.8SALL1, SALL4
32rheumatoid arthritis9.7
33arthritis9.7
34extrapulmonary tuberculosis9.7
35pleurisy9.7
36choroiditis9.7
37mycobacterium kansasii9.7
38auriculocondylar syndrome 39.7EYA1, SALL1
39orbital granuloma9.7SALL1, SALL4
40leprosy9.6
41bronchiolitis obliterans9.6
42drug-induced hepatitis9.6
43silicosis9.6
44abdominal tuberculosis9.6
45uveitis9.6
46intestinal tuberculosis9.6
47hyperparathyroidism9.6
48orchitis9.6
49bronchiolitis9.6
50syphilis9.6

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



Diseases related to townes-brocks syndrome

Symptoms & Phenotypes for Townes-Brocks Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

107480

Clinical features from OMIM:

107480

Human phenotypes related to Townes-Brocks Syndrome:

 64 54 (show all 101)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 preauricular skin tag64 54 hallmark (90%) Very frequent (99-80%) HP:0000384
2 preaxial hand polydactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001177
3 triphalangeal thumb64 54 hallmark (90%) Very frequent (99-80%) HP:0001199
4 external ear malformation64 54 hallmark (90%) Very frequent (99-80%) HP:0008572
5 urogenital fistula64 hallmark (90%) HP:0100589
6 cryptorchidism64 54 typical (50%) Frequent (79-30%) HP:0000028
7 renal insufficiency64 54 typical (50%) Frequent (79-30%) HP:0000083
8 hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000365
9 sensorineural hearing impairment64 typical (50%) HP:0000407
10 pes planus64 54 typical (50%) Frequent (79-30%) HP:0001763
11 camptodactyly of toe64 typical (50%) HP:0001836
12 clinodactyly of the 5th toe64 typical (50%) HP:0001864
13 constipation64 54 typical (50%) Frequent (79-30%) HP:0002019
14 clinodactyly of the 5th finger64 54 typical (50%) Frequent (79-30%) HP:0004209
15 ectopic anus64 typical (50%) HP:0004397
16 preauricular pit64 typical (50%) HP:0004467
17 microtia64 54 typical (50%) Frequent (79-30%) HP:0008551
18 anal atresia64 54 46.9697% Very frequent (99-80%) HP:0002023
19 multicystic kidney dysplasia64 occasional (7.5%) HP:0000003
20 bifid scrotum64 54 occasional (7.5%) Occasional (29-5%) HP:0000048
21 vesicoureteral reflux64 54 occasional (7.5%) Occasional (29-5%) HP:0000076
22 renal hypoplasia64 54 occasional (7.5%) Occasional (29-5%) HP:0000089
23 renal dysplasia64 occasional (7.5%) HP:0000110
24 abnormality of the vagina64 54 occasional (7.5%) Occasional (29-5%) HP:0000142
25 wide mouth64 54 occasional (7.5%) Occasional (29-5%) HP:0000154
26 facial asymmetry64 54 occasional (7.5%) Occasional (29-5%) HP:0000324
27 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
28 visual impairment64 occasional (7.5%) HP:0000505
29 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
30 chorioretinal coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000567
31 blepharophimosis64 54 occasional (7.5%) Occasional (29-5%) HP:0000581
32 iris coloboma64 54 occasional (7.5%) Occasional (29-5%) HP:0000612
33 abnormality of the ribs64 54 occasional (7.5%) Occasional (29-5%) HP:0000772
34 hypothyroidism64 54 occasional (7.5%) Occasional (29-5%) HP:0000821
35 epibulbar dermoid64 54 occasional (7.5%) Occasional (29-5%) HP:0001140
36 atria septal defect64 occasional (7.5%) HP:0001631
37 tetralogy of fallot64 54 occasional (7.5%) Occasional (29-5%) HP:0001636
38 abnormality of the pulmonary valve64 54 occasional (7.5%) Occasional (29-5%) HP:0001641
39 patent ductus arteriosus64 54 occasional (7.5%) Occasional (29-5%) HP:0001643
40 toe syndactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001770
41 split foot64 occasional (7.5%) HP:0001839
42 preaxial foot polydactyly64 occasional (7.5%) HP:0001841
43 arnold-chiari malformation64 54 occasional (7.5%) Occasional (29-5%) HP:0002308
44 bowel incontinence64 54 occasional (7.5%) Occasional (29-5%) HP:0002607
45 short stature64 54 occasional (7.5%) Occasional (29-5%) HP:0004322
46 cranial nerve paralysis64 54 occasional (7.5%) Occasional (29-5%) HP:0006824
47 aplasia/hypoplasia of the corpus callosum64 occasional (7.5%) HP:0007370
48 aplasia/hypoplasia affecting the eye64 occasional (7.5%) HP:0008056
49 hypoplasia of penis64 54 occasional (7.5%) Occasional (29-5%) HP:0008736
50 ulnar deviation of finger64 54 occasional (7.5%) Occasional (29-5%) HP:0009465
51 abnormality of the tragus64 54 occasional (7.5%) Occasional (29-5%) HP:0009912
52 2-4 finger syndactyly64 occasional (7.5%) HP:0010709
53 abnormal localization of kidney64 occasional (7.5%) HP:0100542
54 cognitive impairment64 occasional (7.5%) HP:0100543
55 lower limb asymmetry64 54 occasional (7.5%) Occasional (29-5%) HP:0100559
56 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
57 duane anomaly64 rare (5%) HP:0009921
58 hypospadias64 54 Occasional (29-5%) HP:0000047
59 bifid uterus64 HP:0000136
60 rectovaginal fistula64 54 Very frequent (99-80%) HP:0000143
61 microcephaly64 HP:0000252
62 macrotia64 HP:0000400
63 intellectual disability64 54 Occasional (29-5%) HP:0001249
64 metatarsal synostosis64 HP:0001440
65 umbilical hernia64 HP:0001537
66 ventricular septal defect64 HP:0001629
67 gastroesophageal reflux64 HP:0002020
68 anal stenosis64 HP:0002025
69 duodenal atresia64 HP:0002247
70 overfolding of the superior helices64 HP:0004453
71 2-3 toe syndactyly64 HP:0004691
72 rectoperineal fistula64 54 Very frequent (99-80%) HP:0004792
73 3-4 finger syndactyly64 HP:0006097
74 pseudoepiphyses of second metacarpal64 HP:0006179
75 3-4 toe syndactyly64 HP:0009779
76 partial duplication of thumb phalanx64 54 Occasional (29-5%) HP:0009944
77 aplasia/hypoplasia of the 3rd toe64 54 Occasional (29-5%) HP:0010331
78 urethral valve64 54 Occasional (29-5%) HP:0010481
79 short metatarsal64 HP:0010743
80 broad thumb64 54 Occasional (29-5%) HP:0011304
81 stahl ear64 HP:0100015
82 abnormality of the kidney54 Occasional (29-5%)
83 ectopic kidney54 Occasional (29-5%)
84 abnormality of the uterus54 Occasional (29-5%)
85 overfolded helix54 Frequent (79-30%)
86 abnormality of vision54 Occasional (29-5%)
87 microphthalmia54 Occasional (29-5%)
88 delayed puberty54 Occasional (29-5%)
89 agenesis of corpus callosum54 Occasional (29-5%)
90 subcutaneous nodule54 Frequent (79-30%)
91 failure to thrive54 Occasional (29-5%)
92 anteriorly placed anus54 Frequent (79-30%)
93 defect in the atrial septum54 Occasional (29-5%)
94 abnormality of the cardiac septa54 Occasional (29-5%)
95 abnormality of the foot54 Frequent (79-30%)
96 toe clinodactyly54 Frequent (79-30%)
97 malformation of the heart and great vessels54 Occasional (29-5%)
98 abnormality of the vertebrae54 Occasional (29-5%)
99 multiple renal cysts54 Occasional (29-5%)
100 broad hallux phalanx54 Occasional (29-5%)
101 absent toe54 Occasional (29-5%)

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

41 (show all 12)
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:00053908.6CTNNB1, EYA1, SALL1, SALL4, SHOX2
6MP:00053808.6CTNNB1, EYA1, SALL1, SALL2, SALL4
7MP:00053818.2CTNNB1, EYA1, FOXD1, SALL1, SALL4, SHOX2
8MP:00053788.2CTNNB1, EYA1, FOXD1, SALL1, SALL4, SHOX2
9MP:00053918.2CTNNB1, EYA1, FOXD1, SALL4
10MP:00053678.0CTNNB1, EYA1, FOXD1, SALL1, SALL2, SALL4
11MP:00107687.6CTNNB1, EYA1, FOXD1, SALL1, SALL2, SALL4
12MP:00036317.5CTNNB1, EYA1, FOXD1, SALL1, SALL2, SALL4

Drugs & Therapeutics for Townes-Brocks Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Townes-Brocks Syndrome

Genetic Tests for Townes-Brocks Syndrome

About this section

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

About this section

MalaCards organs/tissues related to Townes-Brocks Syndrome:

36
Kidney, Heart, Uterus, Skin, Bone, Eye

Publications for Townes-Brocks Syndrome

About this section

Articles related to Townes-Brocks Syndrome:

(show top 50)    (show all 61)
idTitleAuthorsYear
1
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. (28054444)
2017
2
Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. (27073431)
2016
3
Deletion upstream of SALL1 producing Townes-Brocks syndrome. (27277004)
2016
4
A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury. (26311113)
2015
5
Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome. (25192472)
2014
6
Endocrine abnormalities in Townes-Brocks syndrome. (23894113)
2013
7
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome. (23716951)
2012
8
Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome. (22228756)
2012
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 family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. (21253317)
2010
11
Phenotypic variability in a family with Townes-Brocks syndrome. (20520617)
2010
12
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. (19737635)
2009
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
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. (19204018)
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
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. (18470945)
2008
18
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. (18813423)
2008
19
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). (19005989)
2008
20
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. (18280297)
2008
21
Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome? (17668723)
2007
22
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. (17221874)
2007
23
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? (17910067)
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 with hypothyroidism. (17351307)
2007
26
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
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
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. (16088922)
2005
30
Townes-Brocks syndrome. (15297694)
2004
31
Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. (15158448)
2004
32
Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes. (12925729)
2003
33
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
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
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. (12915476)
2003
36
Somatic mosaicism and variable expression of Townes-Brocks syndrome. (12210359)
2002
37
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
38
Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome. (11404093)
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
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. (11484202)
2001
41
SALL1 mutations in Townes-Brocks syndrome and related disorders. (11102974)
2000
42
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. (10819639)
2000
43
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. (10654325)
2000
44
Townes-Brocks syndrome. (10051003)
1999
45
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. (9973281)
1999
46
Two cases of Townes-Brocks syndrome. (10631923)
1999
47
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. (10533063)
1999
48
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. (9425907)
1998
49
Two cases of Townes-Brocks syndrome with previously undescribed anomalies. (9823498)
1998
50
Townes-Brocks syndrome presenting as end stage renal failure. (9072124)
1997

Variations for Townes-Brocks Syndrome

About this section

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, 1268CdeletionPathogenicChr na, -1: -1
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, NT1277deletionPathogenicChr na, -1: -1
9SALL1SALL1, 2-BP DEL, 1347CAdeletionPathogenicChr na, -1: -1
10SALL1SALL1, 2-BP DEL, 792GCdeletionPathogenicChr na, -1: -1
11SALL1NM_002968.2(SALL1): c.1256T> A (p.Leu419Ter)SNVPathogenicrs137853084GRCh37Chr 16, 51174877: 51174877
12SALL1SALL1, 1-BP DEL, 995CdeletionPathogenicChr na, -1: -1
13SALL1SALL1, 2-BP DEL, 3414ATdeletionPathogenicChr na, -1: -1

Expression for genes affiliated with Townes-Brocks Syndrome

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

Pathways for genes affiliated with Townes-Brocks Syndrome

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3SALL1, SALL4
29.1CTNNB1, SALL4

GO Terms for genes affiliated with Townes-Brocks Syndrome

About this section

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 20)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:004247310.4EYA1, SALL1
2embryonic digit morphogenesisGO:004273310.4CTNNB1, SALL1
3limb developmentGO:006017310.4CTNNB1, SALL1
4cellular protein localizationGO:003461310.3CTNNB1, EYA1
5embryonic forelimb morphogenesisGO:003511510.3CTNNB1, SHOX2
6positive regulation of mesenchymal cell proliferationGO:000205310.2CTNNB1, SHOX2
7ureteric bud developmentGO:000165710.1EYA1, SALL1
8embryonic limb morphogenesisGO:003032610.0SALL4, SHOX2
9somatic stem cell population maintenanceGO:003501910.0SALL1, SALL4
10positive regulation of transcription, DNA-templatedGO:00458939.9CTNNB1, EYA1, SALL1
11kidney developmentGO:00018229.8CTNNB1, FOXD1, SALL1
12stem cell population maintenanceGO:00198279.8CTNNB1, SALL4
13neural tube developmentGO:00219159.8SALL2, SALL4
14branching involved in ureteric bud morphogenesisGO:00016589.4CTNNB1, EYA1, FOXD1, SALL1
15ventricular septum developmentGO:00032819.3SALL1, SALL4
16negative regulation of transcription, DNA-templatedGO:00458929.2CTNNB1, FOXD1, SALL1, SALL2
17heart developmentGO:00075079.1CTNNB1, SALL1, SALL4, SHOX2
18transcription from RNA polymerase II promoterGO:00063669.0FOXD1, SALL2, SALL4
19negative regulation of transcription from RNA polymerase II promoterGO:00001228.4CTNNB1, SALL1, SALL2, SALL4, SHOX2
20positive regulation of transcription from RNA polymerase II promoterGO:00459448.1CTNNB1, EYA1, FOXD1, SALL1, SALL4, SHOX2

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:00435658.4FOXD1, SALL1, SALL2, SALL4, SHOX2
2transcription factor activity, sequence-specific DNA bindingGO:00037008.2CTNNB1, FOXD1, SALL1, SALL2, SALL4
3transcription regulatory region DNA bindingGO:00442128.1CTNNB1, SALL1, SALL2, SALL4

Sources for Townes-Brocks Syndrome

About this section
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