TBS
MCID: TWN003
MIFTS: 56

Townes-Brocks Syndrome (TBS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Townes-Brocks Syndrome

MalaCards integrated aliases for Townes-Brocks Syndrome:

Name: Townes-Brocks Syndrome 11 24 19 42 58 75 53 43 14
Townes Syndrome 19 42 58 28 5
Renal-Ear-Anal-Radial Syndrome 19 42 58
Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs 19 58
Imperforate Anus-Hand, Foot and Ear Anomalies Syndrome 19 58
Anus, Imperforate, with Hand, Foot and Ear Anomalies 19 5
Rear Syndrome 19 58
Tbs 19 58
Sensorineural Hearing Loss with Imperforate Anus and Hypoplastic Thumbs 58
Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs 19
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 42
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 42
Imperforate Anus with Hand, Foot and Ear Anomalies 19
Imperforate Anus-Hand and Foot Anomalies Syndrome 42
Anal-Ear-Renal-Radial Malformation Syndrome 42

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

1-9/1000000 (Spain) 58

Age Of Onset:

All ages 58

GeneReviews:

24
Penetrance Penetrance appears to be complete, but expressivity is highly variable.

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Townes-Brocks Syndrome

GARD: 19 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 genetic changes 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 genetic change in the SALL4 gene. Inheritance is autosomal dominant. Imperforate anus is corrected with surgery as soon as possible, after the baby is born.

MalaCards based summary: Townes-Brocks Syndrome, also known as townes syndrome, is related to cakut and anus, imperforate. An important gene associated with Townes-Brocks Syndrome is SALL1 (Spalt Like Transcription Factor 1), and among its related pathways/superpathways are Genes controlling nephrogenesis and Development of ureteric collection system. Affiliated tissues include kidney, heart and bone, and related phenotypes are external ear malformation and anal atresia

MedlinePlus Genetics: 42 Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are a malformation of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. People with this condition often have at least two of these three major features.Other signs and symptoms of Townes-Brocks syndrome can include kidney abnormalities, mild to profound hearing loss, eye abnormalities, heart defects, foot abnormalities, and genital malformations. These features vary among affected individuals, even within the same family. Mild intellectual disability or learning problems have been reported in about 10 percent of people with Townes-Brocks syndrome.

Orphanet: 58 A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

Disease Ontology: 11 A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations.

Wikipedia: 75 Townes-Brocks syndrome (TBS) is a rare genetic disease that has been described in approximately 200... more...

GeneReviews: NBK1445

Related Diseases for Townes-Brocks Syndrome

Diseases in the Townes-Brocks Syndrome family:

Townes-Brocks Syndrome 1 Townes-Brocks Syndrome 2

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

(show top 50) (show all 207)
# Related Disease Score Top Affiliating Genes
1 cakut 31.7 SIX5 SIX2 SIX1 SALL1 PAX2 FREM2
2 anus, imperforate 31.2 SALL1 LINC02911 GLI3 FREM2 FRAS1 CTNNB1
3 vacterl association 30.8 SALL1 PAX2 GLI3
4 microphthalmia 30.8 SALL2 SALL1 PAX2 EYA1 CTNNB1
5 renal hypodysplasia/aplasia 3 30.8 FREM2 FRAS1
6 renal hypoplasia 30.5 SIX5 SIX2 SIX1 SALL1 PAX2 EYA1
7 cystic kidney disease 30.4 SIX2 PAX2 CTNNB1 CCP110
8 renal hypodysplasia/aplasia 1 30.4 SIX5 SIX2 SIX1 SALL1 PAX2 FREM2
9 synostosis 30.4 SALL4 GLI3 FREM2 FRAS1
10 skin tag 30.4 SIX5 GLI3
11 chromosome 2q35 duplication syndrome 30.4 SALL1 GLI3 FREM2 FRAS1
12 polycystic kidney disease 30.3 SIX2 PAX2 CTNNB1 CCP110
13 coloboma of macula 30.3 SIX1 SALL2 SALL1 PAX2 GLI3 FREM2
14 townes-brocks syndrome 1 11.9
15 townes-brocks syndrome 2 11.8
16 craniofacial microsomia 11.4
17 temple-baraitser syndrome 11.3
18 sensorineural hearing loss 10.7
19 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
20 polydactyly 10.6
21 polydactyly, preaxial i 10.5
22 duane retraction syndrome 1 10.4
23 hypothyroidism 10.4
24 kidney disease 10.4
25 end stage renal disease 10.4
26 osteoporosis 10.4
27 bone mineral density quantitative trait locus 8 10.4
28 bone mineral density quantitative trait locus 15 10.4
29 chronic kidney disease 10.4
30 renal dysplasia 10.4
31 branchiootic syndrome 1 10.3 SIX1 EYA1
32 eustachian tube disease 10.3 SIX5 EYA1
33 oligomeganephronia 10.3 SALL1 PAX2 EYA1
34 vater/vacterl association 10.3
35 conotruncal heart malformations 10.3
36 3-methylglutaconic aciduria, type iii 10.3
37 patent ductus arteriosus 1 10.3
38 congenital hypothyroidism 10.3
39 rapidly involuting congenital hemangioma 10.3
40 heart disease 10.3
41 duane retraction syndrome 10.3
42 focal segmental glomerulosclerosis 10.3
43 ventricular septal defect 10.3
44 heart septal defect 10.3
45 cataract 10.3
46 dacryocystocele 10.3 FREM2 FRAS1
47 chronic inflammation of lacrimal passage 10.3 FREM2 FRAS1
48 patulous eustachian tube 10.3 SIX5 SIX1 EYA1
49 laryngostenosis 10.3 FREM2 FRAS1
50 glioblastoma 10.3

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



Diseases related to Townes-Brocks Syndrome

Symptoms & Phenotypes for Townes-Brocks Syndrome

Human phenotypes related to Townes-Brocks Syndrome:

58 30 (show top 50) (show all 70)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 external ear malformation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008572
2 anal atresia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002023
3 preauricular skin tag 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000384
4 preaxial hand polydactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001177
5 rectovaginal fistula 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000143
6 triphalangeal thumb 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001199
7 rectoperineal fistula 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004792
8 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
9 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
10 pes planus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001763
11 microtia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008551
12 renal insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0000083
13 cryptorchidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000028
14 subcutaneous nodule 58 30 Frequent (33%) Frequent (79-30%)
HP:0001482
15 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
16 overfolded helix 58 30 Frequent (33%) Frequent (79-30%)
HP:0000396
17 anteriorly placed anus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001545
18 toe clinodactyly 58 30 Frequent (33%) Frequent (79-30%)
HP:0001863
19 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
20 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001274
21 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001508
22 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
23 bowel incontinence 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002607
24 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
25 abnormal vertebral morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003468
26 short stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004322
27 broad hallux phalanx 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010059
28 broad thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011304
29 delayed puberty 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000823
30 cranial nerve paralysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006824
31 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
32 ectopic kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000086
33 atrial septal defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001631
34 iris coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000612
35 bifid scrotum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000048
36 facial asymmetry 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000324
37 chorioretinal coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000567
38 microphthalmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000568
39 tetralogy of fallot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001636
40 patent ductus arteriosus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001643
41 vesicoureteral reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000076
42 abnormality of vision 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000504
43 multiple renal cysts 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005562
44 abnormality of the uterus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000130
45 abnormal pulmonary valve morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001641
46 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000047
47 renal hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000089
48 wide mouth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000154
49 blepharophimosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000581
50 hypoplasia of penis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008736

MGI Mouse Phenotypes related to Townes-Brocks Syndrome:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.38 CCP110 CTNNB1 DACT1 EYA1 FREM2 GLI3
2 growth/size/body region MP:0005378 10.35 CCP110 CTNNB1 DACT1 EYA1 FRAS1 FREM2
3 renal/urinary system MP:0005367 10.34 CCP110 CTNNB1 DACT1 EYA1 FRAS1 FREM2
4 embryo MP:0005380 10.27 CCP110 CTNNB1 DACT1 EYA1 FREM2 GLI3
5 digestive/alimentary MP:0005381 10.25 CCP110 CTNNB1 DACT1 EYA1 FRAS1 GLI3
6 craniofacial MP:0005382 10.18 CCP110 CTNNB1 EYA1 FRAS1 FREM2 GLI3
7 limbs/digits/tail MP:0005371 10.16 CCP110 CTNNB1 DACT1 FRAS1 FREM2 GLI3
8 cardiovascular system MP:0005385 10.13 CCP110 CTNNB1 DACT1 EYA1 FRAS1 FREM2
9 cellular MP:0005384 10.11 CCP110 CTNNB1 EYA1 FRAS1 GLI3 PAX2
10 hearing/vestibular/ear MP:0005377 10.1 CTNNB1 EYA1 FREM2 GLI3 PAX2 SALL1
11 no phenotypic analysis MP:0003012 10.09 CCP110 CTNNB1 DACT1 FRAS1 GLI3 SIX2
12 pigmentation MP:0001186 10.03 CTNNB1 FREM2 GLI3 LMO7 PAX2 TERF1
13 skeleton MP:0005390 9.93 CCP110 CTNNB1 DACT1 EYA1 FRAS1 FREM2
14 respiratory system MP:0005388 9.86 CTNNB1 EYA1 FRAS1 FREM2 GLI3 LMO7
15 vision/eye MP:0005391 9.73 CCP110 CTNNB1 EYA1 FRAS1 FREM2 GLI3
16 mortality/aging MP:0010768 9.58 CCP110 CEP97 CTNNB1 DACT1 EYA1 FRAS1

Drugs & Therapeutics for Townes-Brocks Syndrome

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

Cochrane evidence based reviews: townes-brocks syndrome

Genetic Tests for Townes-Brocks Syndrome

Genetic tests related to Townes-Brocks Syndrome:

# Genetic test Affiliating Genes
1 Townes Syndrome 28

Anatomical Context for Townes-Brocks Syndrome

Organs/tissues related to Townes-Brocks Syndrome:

MalaCards : Kidney, Heart, Bone, Eye, Uterus, Skin, Olfactory Bulb

Publications for Townes-Brocks Syndrome

Articles related to Townes-Brocks Syndrome:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. 53 62 24 5
17221874 2007
2
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. 53 62 24 5
16088922 2005
3
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. 53 62 24 5
11484202 2001
4
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. 53 62 24 5
11478532 2001
5
SALL1 mutations in Townes-Brocks syndrome and related disorders. 53 62 24 5
11102974 2000
6
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 53 62 24 5
9973281 1999
7
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. 53 62 24 5
10533063 1999
8
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. 53 62 24 5
9425907 1998
9
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. 62 24 5
12915476 2003
10
Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome? 62 24 5
8133838 1993
11
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome. 24 5
23069192 2013
12
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 53 62 5
18000979 2007
13
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. 53 62 24
20003547 2009
14
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. 53 62 24
19291771 2009
15
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. 62 5
17431915 2007
16
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. 53 62 24
16892410 2006
17
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. 53 62 24
16470706 2006
18
Defining the heterochromatin localization and repression domains of SALL1. 53 62 24
16443351 2006
19
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. 53 62 24
16429401 2006
20
Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. 53 62 24
15158448 2004
21
Okihiro syndrome is caused by SALL4 mutations. 53 62 24
12393809 2002
22
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. 53 62 24
10819639 2000
23
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. 53 62 24
10654325 2000
24
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. 5
30655312 2019
25
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 5
26380986 2015
26
Endocrine abnormalities in Townes-Brocks syndrome. 62 24
23894113 2013
27
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. 62 24
22308078 2012
28
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. 62 24
21253317 2010
29
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? 62 24
17910067 2007
30
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. 62 24
14627694 2003
31
The conserved glutamine-rich region of chick csal1 and csal3 mediates protein interactions with other spalt family members. Implications for Townes-Brocks syndrome. 62 24
12482848 2003
32
Somatic mosaicism and variable expression of Townes-Brocks syndrome. 62 24
12210359 2002
33
SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. 62 24
11751684 2001
34
Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. 62 24
11688560 2001
35
csal1 is controlled by a combination of FGF and Wnt signals in developing limb buds. 62 24
10985862 2000
36
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. 62 24
8669439 1996
37
Phenotypic variability in Townes-Brocks syndrome. 62 24
6741990 1984
38
Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. 62 24
5042490 1972
39
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 24
24429398 2014
40
Overexpression of Sall1 in vivo leads to reduced body weight without affecting kidney development. 53 62
20053786 2010
41
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. 53 62
19204018 2009
42
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). 53 62
19005989 2008
43
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. 53 62
18470945 2008
44
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. 53 62
18280297 2008
45
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. 53 62
17295837 2007
46
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. 53 62
16971658 2006
47
The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. 53 62
16790473 2006
48
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. 24
16299066 2006
49
Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. 53 62
16670092 2006
50
sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth. 24
16501170 2006

Variations for Townes-Brocks Syndrome

ClinVar genetic disease variations for Townes-Brocks Syndrome:

5 (show top 50) (show all 148)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SALL1 NM_002968.3(SALL1):c.1277_1278del (p.Arg426fs) DEL Pathogenic
7430 rs1597230341 GRCh37: 16:51174855-51174856
GRCh38: 16:51140944-51140945
2 SALL1 NM_002968.3(SALL1):c.1347_1348del (p.His449fs) MICROSAT Pathogenic
7431 rs1597230241 GRCh37: 16:51174785-51174786
GRCh38: 16:51140874-51140875
3 SALL1 NM_002968.3(SALL1):c.792_793del (p.Leu264fs) DEL Pathogenic
7433 rs1597230909 GRCh37: 16:51175340-51175341
GRCh38: 16:51141429-51141430
4 SALL1 NM_002968.3(SALL1):c.1256T>A (p.Leu419Ter) SNV Pathogenic
7435 rs137853084 GRCh37: 16:51174877-51174877
GRCh38: 16:51140966-51140966
5 SALL1 NM_002968.3(SALL1):c.995del (p.Pro332fs) DEL Pathogenic
7436 rs1597230687 GRCh37: 16:51175138-51175138
GRCh38: 16:51141227-51141227
6 SALL1 NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs) DUP Pathogenic
807481 rs1597228568 GRCh37: 16:51173443-51173444
GRCh38: 16:51139532-51139533
7 SALL1 NM_002968.3(SALL1):c.1108_1109del (p.Val370fs) DEL Pathogenic
426114 rs1085307143 GRCh37: 16:51175024-51175025
GRCh38: 16:51141113-51141114
8 SALL1 NM_002968.3(SALL1):c.3005_3008del (p.Ala1002fs) DEL Pathogenic
663219 rs1597228188 GRCh37: 16:51173125-51173128
GRCh38: 16:51139214-51139217
9 SALL1 NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs) INSERT Pathogenic
983477 rs1962410902 GRCh37: 16:51174767-51174768
GRCh38: 16:51140856-51140857
10 SALL1 NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter) SNV Pathogenic
973255 rs1197587893 GRCh37: 16:51174260-51174260
GRCh38: 16:51140349-51140349
11 SALL1 NM_002968.3(SALL1):c.691del (p.Glu231fs) DEL Pathogenic
1353868 GRCh37: 16:51175442-51175442
GRCh38: 16:51141531-51141531
12 SALL1 NM_002968.3(SALL1):c.1363_1369delinsTGAAACA (p.Ala455_Val457delinsTer) INDEL Pathogenic
1679359 GRCh37: 16:51174764-51174770
GRCh38: 16:51140853-51140859
13 SALL1 NM_002968.3(SALL1):c.1214dup (p.Leu406fs) DUP Pathogenic
459257 rs1555475275 GRCh37: 16:51174918-51174919
GRCh38: 16:51141007-51141008
14 SALL1 NM_002968.3(SALL1):c.1028dup (p.Leu344fs) DUP Pathogenic
1069953 GRCh37: 16:51175104-51175105
GRCh38: 16:51141193-51141194
15 SALL1 NM_002968.3(SALL1):c.712C>T (p.Gln238Ter) SNV Pathogenic
562380 rs1567316325 GRCh37: 16:51175421-51175421
GRCh38: 16:51141510-51141510
16 SALL1 NM_002968.3(SALL1):c.870dup (p.Gln291fs) DUP Pathogenic
1075840 GRCh37: 16:51175262-51175263
GRCh38: 16:51141351-51141352
17 SALL1 NM_002968.3(SALL1):c.2356del (p.Arg786fs) DEL Pathogenic
528881 rs1555475106 GRCh37: 16:51173777-51173777
GRCh38: 16:51139866-51139866
18 SALL1 NM_002968.3(SALL1):c.1115C>G (p.Ser372Ter) SNV Pathogenic
7429 rs104894535 GRCh37: 16:51175018-51175018
GRCh38: 16:51141107-51141107
19 SALL1 NM_002968.3(SALL1):c.1115C>A (p.Ser372Ter) SNV Pathogenic
7427 rs104894535 GRCh37: 16:51175018-51175018
GRCh38: 16:51141107-51141107
20 SALL1 NM_002968.3(SALL1):c.1270del (p.Gln424fs) DEL Pathogenic
7426 rs1597230349 GRCh37: 16:51174863-51174863
GRCh38: 16:51140952-51140952
21 SALL1 NM_002968.3(SALL1):c.709C>T (p.Gln237Ter) SNV Pathogenic
1693559 GRCh37: 16:51175424-51175424
GRCh38: 16:51141513-51141513
22 SALL1 NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) DEL Pathogenic
Pathogenic
418466 rs1064793257 GRCh37: 16:51172718-51172719
GRCh38: 16:51138807-51138808
23 SALL1 NM_002968.3(SALL1):c.2256del (p.Tyr753fs) DEL Pathogenic
459258 rs1555475120 GRCh37: 16:51173877-51173877
GRCh38: 16:51139966-51139966
24 SALL1 NM_002968.3(SALL1):c.866T>A (p.Leu289Ter) SNV Pathogenic
528879 rs1555475334 GRCh37: 16:51175267-51175267
GRCh38: 16:51141356-51141356
25 SALL1 NM_002968.3(SALL1):c.958C>T (p.Gln320Ter) SNV Pathogenic
528880 rs1555475319 GRCh37: 16:51175175-51175175
GRCh38: 16:51141264-51141264
26 SALL1 NC_000016.10:g.(?_51137092)_(51151261_?)del DEL Pathogenic
528884 GRCh37: 16:51171003-51185172
GRCh38: 16:51137092-51151261
27 SALL1 NM_002968.3(SALL1):c.967C>T (p.Gln323Ter) SNV Pathogenic
Pathogenic
7434 rs104894538 GRCh37: 16:51175166-51175166
GRCh38: 16:51141255-51141255
28 SALL1 NM_002968.3(SALL1):c.1324del (p.Ser442fs) DEL Pathogenic
648831 rs1597230288 GRCh37: 16:51174809-51174809
GRCh38: 16:51140898-51140898
29 SALL1 NM_002968.3(SALL1):c.420del (p.Ser141fs) DEL Pathogenic
934902 rs1962442258 GRCh37: 16:51175713-51175713
GRCh38: 16:51141802-51141802
30 SALL1 NM_002968.3(SALL1):c.871C>T (p.Gln291Ter) SNV Pathogenic
936315 rs1962424706 GRCh37: 16:51175262-51175262
GRCh38: 16:51141351-51141351
31 SALL1 NM_002968.3(SALL1):c.750dup (p.Arg251fs) DUP Pathogenic
947631 rs1962428520 GRCh37: 16:51175382-51175383
GRCh38: 16:51141471-51141472
32 SALL1 NM_002968.3(SALL1):c.1423_1424del (p.Arg475fs) MICROSAT Pathogenic
1069244 GRCh37: 16:51174709-51174710
GRCh38: 16:51140798-51140799
33 SALL1 NM_002968.3(SALL1):c.881_893dup (p.Leu299fs) DUP Pathogenic
1070663 GRCh37: 16:51175239-51175240
GRCh38: 16:51141328-51141329
34 SALL1 NM_002968.3(SALL1):c.1027dup (p.Ile343fs) DUP Pathogenic
1071229 GRCh37: 16:51175105-51175106
GRCh38: 16:51141194-51141195
35 SALL1 NM_002968.3(SALL1):c.870_871dup (p.Gln291fs) MICROSAT Pathogenic
279887 rs886041236 GRCh37: 16:51175261-51175262
GRCh38: 16:51141350-51141351
36 SALL1 NM_002968.3(SALL1):c.814C>T (p.Gln272Ter) SNV Pathogenic
488838 rs1555475342 GRCh37: 16:51175319-51175319
GRCh38: 16:51141408-51141408
37 SALL1 NM_002968.3(SALL1):c.1228G>T (p.Gly410Ter) SNV Pathogenic
1705680 GRCh37: 16:51174905-51174905
GRCh38: 16:51140994-51140994
38 SALL1 NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) SNV Pathogenic
Pathogenic
7428 rs104894537 GRCh37: 16:51175307-51175307
GRCh38: 16:51141396-51141396
39 SALL1 NM_002968.3(SALL1):c.601C>T (p.Gln201Ter) SNV Pathogenic/Likely Pathogenic
1679304 GRCh37: 16:51175532-51175532
GRCh38: 16:51141621-51141621
40 SALL1 NM_002968.3(SALL1):c.3381del (p.Arg1128fs) DEL Likely Pathogenic
1333617 GRCh37: 16:51172752-51172752
GRCh38: 16:51138841-51138841
41 SALL1 NM_002968.3(SALL1):c.269dup (p.Pro91fs) DUP Likely Pathogenic
1048611 GRCh37: 16:51175863-51175864
GRCh38: 16:51141952-51141953
42 SALL1 NM_002968.3(SALL1):c.2287dup (p.Arg763fs) DUP Likely Pathogenic
830013 rs1597229151 GRCh37: 16:51173845-51173846
GRCh38: 16:51139934-51139935
43 SALL1 NM_002968.3(SALL1):c.2801del (p.Ser934fs) DEL Likely Pathogenic
829881 rs1597228490 GRCh37: 16:51173332-51173332
GRCh38: 16:51139421-51139421
44 SALL1 NM_002968.3(SALL1):c.2129del (p.Ile710fs) DEL Likely Pathogenic
1700011 GRCh37: 16:51174004-51174004
GRCh38: 16:51140093-51140093
45 SALL1 NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter) SNV Likely Pathogenic
Not Provided
219151 rs864321635 GRCh37: 16:51172973-51172973
GRCh38: 16:51139062-51139062
46 SALL1 NM_002968.3(SALL1):c.949C>T (p.Pro317Ser) SNV Conflicting Interpretations Of Pathogenicity
208167 rs864621971 GRCh37: 16:51175184-51175184
GRCh38: 16:51141273-51141273
47 SALL1 NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) MICROSAT Conflicting Interpretations Of Pathogenicity
Benign
195187 rs113614842 GRCh37: 16:51175656-51175658
GRCh38: 16:51141745-51141747
48 SALL1 NM_002968.3(SALL1):c.494C>T (p.Ser165Phe) SNV Uncertain Significance
1683599 GRCh37: 16:51175639-51175639
GRCh38: 16:51141728-51141728
49 SALL1 NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) MICROSAT Uncertain Significance
Likely Benign
258877 rs1555475414 GRCh37: 16:51175643-51175644
GRCh38: 16:51141732-51141733
50 SALL1 NM_002968.3(SALL1):c.3584G>A (p.Arg1195Gln) SNV Uncertain Significance
574766 rs1030315086 GRCh37: 16:51171414-51171414
GRCh38: 16:51137503-51137503

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:

# Super pathways Score Top Affiliating Genes
1 11 SIX1 PAX2 GLI3 EYA1 CTNNB1
2 10.82 SIX2 SIX1 SALL1 PAX2 GLI3 FRAS1
3 10.56 SALL1 PAX2 EYA1

GO Terms for Townes-Brocks Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 beta-catenin destruction complex GO:0030877 9.13 DACT1 CTNNB1
2 protein-DNA complex GO:0032993 9.1 PAX2 EYA1 CTNNB1

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.57 SIX5 SIX2 SIX1 SALL4 SALL3 SALL2
2 negative regulation of DNA-templated transcription GO:0045892 10.29 SIX5 SIX1 SALL2 SALL1 PAX2 GLI3
3 anatomical structure morphogenesis GO:0009653 10.22 SIX2 FREM2 FRAS1 EYA1
4 positive regulation of transcription by RNA polymerase II GO:0045944 10.2 CTNNB1 EYA1 GLI3 LMO7 PAX2 SALL1
5 heart development GO:0007507 10.13 CTNNB1 FREM2 GLI3 SALL1 SALL4
6 chondrocyte differentiation GO:0002062 10.11 SIX2 GLI3 CTNNB1
7 cell population proliferation GO:0008283 10.06 SIX5 SIX2 GLI3 CTNNB1
8 inner ear morphogenesis GO:0042472 10.04 SIX1 PAX2 EYA1
9 inner ear development GO:0048839 10.03 SIX1 GLI3 FREM2
10 embryonic digit morphogenesis GO:0042733 10.03 SALL1 GLI3 FREM2 CTNNB1
11 pattern specification process GO:0007389 10.02 SIX1 GLI3 EYA1
12 ventricular septum development GO:0003281 10.02 SALL4 SALL1 LUZP1
13 embryonic limb morphogenesis GO:0030326 10 FRAS1 GLI3 SALL4
14 ureteric bud development GO:0001657 9.97 SIX1 SALL1 EYA1
15 cochlea morphogenesis GO:0090103 9.97 SIX1 PAX2 EYA1
16 artery development GO:0060840 9.96 LUZP1 GLI3
17 positive regulation of myoblast proliferation GO:2000288 9.95 SIX1 CTNNB1
18 middle ear morphogenesis GO:0042474 9.95 SIX2 SIX1 EYA1
19 metanephric mesenchyme development GO:0072075 9.93 PAX2 SIX1
20 metanephros development GO:0001656 9.93 SIX2 GLI3 EYA1
21 anatomical structure development GO:0048856 9.93 EYA1 GLI3 PAX2 SIX1
22 limb development GO:0060173 9.9 SALL1 GLI3 CTNNB1
23 optic nerve morphogenesis GO:0021631 9.88 GLI3 PAX2
24 embryonic skeletal system morphogenesis GO:0048704 9.88 SIX2 SIX1 GLI3 EYA1
25 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.87 SIX1 EYA1
26 metanephros morphogenesis GO:0003338 9.86 FRAS1 CTNNB1
27 tongue development GO:0043586 9.82 SIX1 GLI3
28 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.8 PAX2 SALL1 SIX2
29 otic vesicle development GO:0071599 9.79 SIX1 EYA1
30 neural tube development GO:0021915 9.77 SALL4 SALL2 GLI3 DACT1
31 mesodermal cell fate specification GO:0007501 9.73 EYA1 PAX2 SIX2
32 kidney development GO:0001822 9.65 SIX2 SIX1 SALL1 GLI3 FREM2 CTNNB1
33 branching involved in ureteric bud morphogenesis GO:0001658 9.4 SIX1 SALL1 PAX2 GLI3 EYA1 CTNNB1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.21 GLI3 PAX2 SALL1 SALL2 SALL3 SALL4
2 DNA binding GO:0003677 9.97 GLI3 PAX2 SALL1 SALL2 SALL3 SALL4
3 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 9.91 GLI3 PAX2 SALL1 SALL2 SALL3 SALL4
4 beta-catenin binding GO:0008013 9.23 SALL1 GLI3 DACT1 CTNNB1

Sources for Townes-Brocks Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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