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TBS
MCID: TWN003
MIFTS: 55

Townes-Brocks Syndrome (TBS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Townes-Brocks Syndrome

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MalaCards integrated aliases for Townes-Brocks Syndrome:

Name: Townes-Brocks Syndrome 12 74 24 52 25 58 36 54 15
Townes Syndrome 52 25 58 29 6
Renal-Ear-Anal-Radial Syndrome 52 25 58
Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs 52 58
Imperforate Anus-Hand, Foot and Ear Anomalies Syndrome 52 58
Rear Syndrome 52 58
Tbs 52 58
Sensorineural Hearing Loss with Imperforate Anus and Hypoplastic Thumbs 58
Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs 52
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 25
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 25
Anus, Imperforate, with Hand, Foot and Ear Anomalies 52
Imperforate Anus with Hand, Foot and Ear Anomalies 52
Imperforate Anus-Hand and Foot Anomalies Syndrome 25
Anal-Ear-Renal-Radial Malformation Syndrome 25
Syndrome, Townes-Brocks 39

Characteristics:

Orphanet epidemiological data:

58
townes-brocks syndrome
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

GeneReviews:

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

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Nephrological diseases Ear diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Townes-Brocks Syndrome

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NIH Rare Diseases : 52 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.

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). Affiliated tissues include kidney, heart and eye, and related phenotypes are external ear malformation and anal atresia

Disease Ontology : 12 A syndrome 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 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.

KEGG : 36 Townes-Brocks syndrome is an autosomal dominant disorder. Characteristic features of the disease include external ear anomalies called microtia, hearing loss, hand anomalies like preaxial polydactyly/triphalangeal thumbs, imperforate anus and renal malformations.

Wikipedia : 74 Townes-Brocks syndrome (TBS) is a rare genetic disease that has been described in approximately 200... more...

GeneReviews: NBK1445
Sources

Related Diseases for Townes-Brocks Syndrome

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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 495)
# Related Disease Score Top Affiliating Genes
1 cakut 32.0 SIX5 SIX2 SIX1 SALL1 PAX2 FRAS1
2 anus, imperforate 31.0 SALL1 HOXD13 GLI3 FRAS1 C16orf97
3 renal hypoplasia 30.6 SIX2 SIX1 SALL1 PAX2 EYA1
4 microphthalmia 30.6 SALL2 SALL1 PAX2 FRAS1 EYA1 CTNNB1
5 renal hypodysplasia/aplasia 1 30.4 SIX2 SIX1 SALL1 PAX2 FRAS1 EYA1
6 chromosome 2q35 duplication syndrome 30.2 SALL1 HOXD13 GLI3 FRAS1
7 synostosis 30.2 SALL4 HOXD13 GLI3 FRAS1
8 coloboma of macula 30.1 TBX5 SALL2 SALL1 PAX2 GLI3 FRAS1
9 townes-brocks syndrome 1 13.1
10 townes-brocks syndrome 2 13.1
11 mycobacterium tuberculosis 1 12.4
12 tuberculous meningitis 12.0
13 multidrug-resistant tuberculosis 12.0
14 extrapulmonary tuberculosis 11.8
15 pulmonary tuberculosis 11.8
16 miliary tuberculosis 11.5
17 tuberculous peritonitis 11.4
18 temple-baraitser syndrome 11.2
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
20 sensorineural hearing loss 10.6
21 polydactyly 10.6
22 branchiootic syndrome 1 10.6
23 meningitis 10.5
24 human immunodeficiency virus type 1 10.5
25 hemifacial microsomia 10.5
26 hypothyroidism 10.5
27 end stage renal disease 10.5
28 lung disease 10.5
29 acquired immunodeficiency syndrome 10.4
30 bilateral renal aplasia 10.4 PAX2 EYA1
31 kidney disease 10.4
32 cataract 10.4
33 cytokine deficiency 10.4
34 leprosy 3 10.4
35 hansen's disease 10.4
36 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.4
37 exudative vitreoretinopathy 7 10.4 TBX5 CTNNB1
38 holzgreve syndrome 10.4 GLI3 CTNNB1
39 malaria 10.3
40 lymphadenitis 10.3
41 alcohol use disorder 10.3
42 uveitis 10.3
43 oligomeganephronia 10.3 PAX2 EYA1
44 duane retraction syndrome 1 10.3
45 patent ductus arteriosus 1 10.3
46 heart disease 10.3
47 vacterl association 10.3
48 craniofacial microsomia 10.3
49 horseshoe kidney 10.3
50 rapidly involuting congenital hemangioma 10.3

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



Diseases related to Townes-Brocks Syndrome
Sources

Symptoms & Phenotypes for Townes-Brocks Syndrome

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Human phenotypes related to Townes-Brocks Syndrome:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 external ear malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0008572
2 anal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002023
3 preauricular skin tag 58 31 hallmark (90%) Very frequent (99-80%) HP:0000384
4 preaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001177
5 rectovaginal fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0000143
6 triphalangeal thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0001199
7 rectoperineal fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0004792
8 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
9 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
10 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
11 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
12 subcutaneous nodule 58 31 frequent (33%) Frequent (79-30%) HP:0001482
13 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
14 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
15 overfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0000396
16 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
17 anteriorly placed anus 58 31 frequent (33%) Frequent (79-30%) HP:0001545
18 toe clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001863
19 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
20 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
21 abnormal vertebral morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0003468
22 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
23 broad hallux phalanx 58 31 occasional (7.5%) Occasional (29-5%) HP:0010059
24 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
25 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
26 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
27 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
28 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
29 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
30 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
31 ectopic kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000086
32 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
33 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
34 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
35 bifid scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000048
36 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
37 chorioretinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000567
38 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
39 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
40 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
41 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
42 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
43 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
44 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
45 abnormality of the uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000130
46 abnormal pulmonary valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001641
47 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
48 renal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000089
49 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
50 arnold-chiari malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002308

MGI Mouse Phenotypes related to Townes-Brocks Syndrome:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.38 CTNNB1 DACT1 EYA1 FRAS1 GLI3 HOXD13
2 growth/size/body region MP:0005378 10.34 CTNNB1 DACT1 EYA1 FRAS1 GLI3 HOXD13
3 cardiovascular system MP:0005385 10.31 CTNNB1 DACT1 EYA1 FRAS1 GLI3 PAX2
4 embryo MP:0005380 10.31 CTNNB1 DACT1 EYA1 GLI3 HOXD13 PAX2
5 digestive/alimentary MP:0005381 10.29 CTNNB1 DACT1 EYA1 FRAS1 GLI3 HOXD13
6 nervous system MP:0003631 10.17 CTNNB1 DACT1 EYA1 GLI3 LMO7 PAX2
7 craniofacial MP:0005382 10.16 CTNNB1 EYA1 FRAS1 GLI3 SALL3 SALL4
8 limbs/digits/tail MP:0005371 10.15 CTNNB1 DACT1 FRAS1 GLI3 HOXD13 SALL1
9 hearing/vestibular/ear MP:0005377 10.05 CTNNB1 EYA1 GLI3 PAX2 SALL1 SALL4
10 renal/urinary system MP:0005367 10.03 CTNNB1 DACT1 EYA1 FRAS1 GLI3 HOXD13
11 muscle MP:0005369 10 CTNNB1 EYA1 HOXD13 LMO7 SIX1 SIX5
12 normal MP:0002873 9.97 CTNNB1 EYA1 GLI3 SALL1 SALL2 SIX2
13 no phenotypic analysis MP:0003012 9.95 CTNNB1 DACT1 FRAS1 GLI3 HOXD13 SIX2
14 pigmentation MP:0001186 9.72 CTNNB1 GLI3 LMO7 PAX2 TERF1
15 respiratory system MP:0005388 9.7 CTNNB1 EYA1 FRAS1 GLI3 LMO7 SALL3
16 skeleton MP:0005390 9.7 CTNNB1 DACT1 EYA1 FRAS1 GLI3 HOXD13
17 vision/eye MP:0005391 9.32 CTNNB1 EYA1 FRAS1 GLI3 HOXD13 LMO7
Sources

Drugs & Therapeutics for Townes-Brocks Syndrome

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

Sources

Genetic Tests for Townes-Brocks Syndrome

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Genetic tests related to Townes-Brocks Syndrome:

# Genetic test Affiliating Genes
1 Townes Syndrome 29
Sources

Anatomical Context for Townes-Brocks Syndrome

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MalaCards organs/tissues related to Townes-Brocks Syndrome:

40
Kidney, Heart, Eye, Bone, Skin, Uterus, Brain
Sources

Publications for Townes-Brocks Syndrome

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Articles related to Townes-Brocks Syndrome:

(show top 50) (show all 136)
# Title Authors PMID Year
1
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. 61 54 6 24
11484202 2001
2
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. 24 54 6 61
11478532 2001
3
SALL1 mutations in Townes-Brocks syndrome and related disorders. 54 61 6 24
11102974 2000
4
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. 61 54 24 6
10533063 1999
5
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. 54 61 24 6
9425907 1998
6
Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome? 24 6 61
8133838 1993
7
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 61 54 6
18000979 2007
8
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. 61 24 54
20003547 2009
9
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. 61 54 24
19291771 2009
10
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. 6 61
17431915 2007
11
Townes-Brocks Syndrome 61 6
20301618 2007
12
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. 61 54 24
16892410 2006
13
Defining the heterochromatin localization and repression domains of SALL1. 54 24 61
16443351 2006
14
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. 54 24 61
16470706 2006
15
Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. 61 54 24
15158448 2004
16
Okihiro syndrome is caused by SALL4 mutations. 61 54 24
12393809 2002
17
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. 54 24 61
10819639 2000
18
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. 24 54 61
10654325 2000
19
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 24 54 61
9973281 1999
20
Endocrine abnormalities in Townes-Brocks syndrome. 61 24
23894113 2013
21
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. 24 61
22308078 2012
22
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. 24 61
21253317 2010
23
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? 61 24
17910067 2007
24
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. 24 61
14627694 2003
25
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. 61 24
12915476 2003
26
The conserved glutamine-rich region of chick csal1 and csal3 mediates protein interactions with other spalt family members. Implications for Townes-Brocks syndrome. 61 24
12482848 2003
27
Somatic mosaicism and variable expression of Townes-Brocks syndrome. 61 24
12210359 2002
28
SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. 24 61
11751684 2001
29
Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. 61 24
11688560 2001
30
csal1 is controlled by a combination of FGF and Wnt signals in developing limb buds. 61 24
10985862 2000
31
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. 61 24
8669439 1996
32
Phenotypic variability in Townes-Brocks syndrome. 24 61
6741990 1984
33
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 24
24429398 2014
34
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome. 24
23069192 2013
35
Overexpression of Sall1 in vivo leads to reduced body weight without affecting kidney development. 61 54
20053786 2010
36
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. 54 61
19204018 2009
37
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). 61 54
19005989 2008
38
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. 54 61
18470945 2008
39
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. 54 61
18280297 2008
40
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. 54 61
17221874 2007
41
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. 54 61
17295837 2007
42
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. 54 61
16971658 2006
43
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. 54 61
16790473 2006
44
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. 24
16299066 2006
45
Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. 61 54
16670092 2006
46
sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth. 24
16501170 2006
47
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. 61 54
16429401 2006
48
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. 61 54
16088922 2005
49
Expression of csal1 in pre limb-bud chick embryos. 54 61
15968588 2005
50
Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. 24
15286162 2004
Sources

Variations for Townes-Brocks Syndrome

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ClinVar genetic disease variations for Townes-Brocks Syndrome:

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SALL1 NM_002968.2(SALL1):c.3414_3415del (p.Cys1139fs)deletion Pathogenic 418466 rs1064793257 16:51172718-51172719 16:51138807-51138808
2 SALL1 NM_002968.2(SALL1):c.1214dup (p.Leu406fs)duplication Pathogenic 459257 rs1555475275 16:51174918-51174919 16:51141007-51141008
3 SALL1 NM_002968.2(SALL1):c.2256del (p.Tyr753fs)deletion Pathogenic 459258 rs1555475120 16:51173877-51173877 16:51139966-51139966
4 SALL1 NC_000016.10:g.(?_51137092)_(51151261_?)deldeletion Pathogenic 528884 16:51171003-51185172 16:51137092-51151261
5 SALL1 NM_002968.2(SALL1):c.2356del (p.Arg786fs)deletion Pathogenic 528881 rs1555475106 16:51173777-51173777 16:51139866-51139866
6 SALL1 NM_002968.2(SALL1):c.958C>T (p.Gln320Ter)SNV Pathogenic 528880 rs1555475319 16:51175175-51175175 16:51141264-51141264
7 SALL1 NM_002968.2(SALL1):c.866T>A (p.Leu289Ter)SNV Pathogenic 528879 rs1555475334 16:51175267-51175267 16:51141356-51141356
8 SALL1 NM_002968.2(SALL1):c.3005_3008del (p.Ala1002fs)deletion Pathogenic 663219 16:51173125-51173128 16:51139214-51139217
9 SALL1 NM_002968.3(SALL1):c.1324del (p.Ser442fs)deletion Pathogenic 648831 16:51174809-51174809 16:51140898-51140898
10 SALL1 NM_002968.2(SALL1):c.826C>T (p.Arg276Ter)SNV Pathogenic 7428 rs104894537 16:51175307-51175307 16:51141396-51141396
11 SALL1 NM_002968.2(SALL1):c.967C>T (p.Gln323Ter)SNV Pathogenic 7434 rs104894538 16:51175166-51175166 16:51141255-51141255
12 SALL1 NM_001127892.1(SALL1):c.187_189GGC[5] (p.Gly66dup)short repeat Conflicting interpretations of pathogenicity 258877 rs1555475414 16:51175643-51175644 16:51141732-51141733
13 SALL1 NM_002968.2(SALL1):c.351C>T (p.Asn117=)SNV Conflicting interpretations of pathogenicity 319617 rs145806303 16:51175782-51175782 16:51141871-51141871
14 SALL1 NM_002968.3(SALL1):c.448_450AGC[12] (p.Ser158_Ser159dup)short repeat Conflicting interpretations of pathogenicity 319615 rs113614842 16:51175655-51175656 16:51141744-51141745
15 SALL1 NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter)SNV Uncertain significance 219151 rs864321635 16:51172973-51172973 16:51139062-51139062
16 SALL1 NM_002968.2(SALL1):c.548C>A (p.Thr183Lys)SNV Uncertain significance 654753 16:51175585-51175585 16:51141674-51141674
17 SALL1 NM_002968.2(SALL1):c.3584G>A (p.Arg1195Gln)SNV Uncertain significance 574766 rs1030315086 16:51171414-51171414 16:51137503-51137503
18 SALL1 NM_002968.3(SALL1):c.424G>A (p.Gly142Ser)SNV Uncertain significance 854286 16:51175709-51175709 16:51141798-51141798
19 SALL1 NM_002968.3(SALL1):c.412G>A (p.Gly138Ser)SNV Uncertain significance 862986 16:51175721-51175721 16:51141810-51141810
20 SALL1 NM_002968.2(SALL1):c.1014T>G (p.Ser338=)SNV Likely benign 528882 rs960886445 16:51175119-51175119 16:51141208-51141208
21 SALL1 NM_002968.3(SALL1):c.3759C>T (p.Ser1253=)SNV Likely benign 704400 16:51171239-51171239 16:51137328-51137328
22 SALL1 NM_002968.2(SALL1):c.3199C>T (p.Leu1067Phe)SNV Likely benign 459259 rs1375814966 16:51172934-51172934 16:51139023-51139023
23 SALL1 NM_002968.2(SALL1):c.3120A>G (p.Thr1040=)SNV Likely benign 195190 rs146655918 16:51173013-51173013 16:51139102-51139102
24 SALL1 NM_002968.2(SALL1):c.3872A>G (p.Asn1291Ser)SNV Benign/Likely benign 218510 rs74499562 16:51171126-51171126 16:51137215-51137215
25 SALL1 NM_002968.2(SALL1):c.1878G>C (p.Glu626Asp)SNV Benign/Likely benign 218509 rs80248061 16:51174255-51174255 16:51140344-51140344
26 SALL1 NM_002968.2(SALL1):c.2544A>G (p.Gln848=)SNV Benign/Likely benign 258865 rs45459896 16:51173589-51173589 16:51139678-51139678
27 SALL1 NM_002968.3(SALL1):c.448_450AGC[11] (p.Ser159dup)short repeat Benign/Likely benign 258874 rs113614842 16:51175655-51175656 16:51141744-51141745
28 SALL1 NM_002968.2(SALL1):c.472A>G (p.Ser158Gly)SNV Benign/Likely benign 258873 rs139646526 16:51175661-51175661 16:51141750-51141750
29 SALL1 NM_002968.2(SALL1):c.390G>A (p.Pro130=)SNV Benign/Likely benign 258872 rs75156807 16:51175743-51175743 16:51141832-51141832
30 SALL1 NM_002968.2(SALL1):c.379G>C (p.Val127Leu)SNV Benign/Likely benign 258870 rs138635817 16:51175754-51175754 16:51141843-51141843
31 SALL1 NM_002968.2(SALL1):c.809C>T (p.Pro270Leu)SNV Benign/Likely benign 282089 rs140827311 16:51175324-51175324 16:51141413-51141413
32 SALL1 NM_002968.2(SALL1):c.3915C>T (p.Asn1305=)SNV Benign/Likely benign 287591 rs140524372 16:51171083-51171083 16:51137172-51137172
33 SALL1 NM_002968.2(SALL1):c.3794G>A (p.Gly1265Glu)SNV Benign/Likely benign 288122 rs149302006 16:51171204-51171204 16:51137293-51137293
34 SALL1 NM_002968.2(SALL1):c.3942C>T (p.Phe1314=)SNV Benign/Likely benign 319597 rs189411650 16:51171056-51171056 16:51137145-51137145
35 SALL1 NM_002968.2(SALL1):c.3222G>A (p.Ala1074=)SNV Benign/Likely benign 319604 rs61731131 16:51172911-51172911 16:51139000-51139000
36 SALL1 NM_002968.2(SALL1):c.1904C>T (p.Pro635Leu)SNV Benign/Likely benign 258861 rs146454164 16:51174229-51174229 16:51140318-51140318
37 SALL1 NM_002968.2(SALL1):c.2343G>C (p.Leu781=)SNV Benign 258864 rs60270998 16:51173790-51173790 16:51139879-51139879
38 SALL1 NM_002968.2(SALL1):c.2310C>T (p.Ile770=)SNV Benign 258863 rs61740811 16:51173823-51173823 16:51139912-51139912
39 SALL1 NM_002968.2(SALL1):c.292A>G (p.Met98Val)SNV Benign 235663 rs28643388 16:51175841-51175841 16:51141930-51141930
40 SALL1 NM_002968.2(SALL1):c.264C>T (p.Ser88=)SNV Benign 528883 rs143501736 16:51175869-51175869 16:51141958-51141958
41 SALL1 NM_002968.3(SALL1):c.448_450AGC[13] (p.Ser157_Ser159dup)short repeat Benign 702302 16:51175655-51175656 16:51141744-51141745
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Expression for Townes-Brocks Syndrome

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Pathways for Townes-Brocks Syndrome

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GO Terms for Townes-Brocks Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.93 THAP5 TERF1 TBX5 SIX1 SALL4 SALL1
2 nuclear chromatin GO:0000790 9.8 THAP5 TBX5 SIX5 SIX2 SIX1 PAX2
3 transcription factor complex GO:0005667 9.62 SIX5 SIX2 SIX1 CTNNB1
4 nucleus GO:0005634 9.55 THAP5 TERF1 TBX5 SIX5 SIX2 SIX1
5 beta-catenin destruction complex GO:0030877 9.37 DACT1 CTNNB1
6 protein-DNA complex GO:0032993 9.26 TBX5 PAX2 EYA1 CTNNB1

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

(show all 47)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.19 TBX5 SIX5 SIX2 SIX1 PAX2 HOXD13
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.15 TBX5 SIX1 SALL4 SALL2 SALL1 GLI3
3 regulation of transcription, DNA-templated GO:0006355 10.14 TBX5 SIX5 SIX2 SIX1 SALL4 SALL3
4 positive regulation of transcription, DNA-templated GO:0045893 10.1 TBX5 SIX1 SALL1 PAX2 GLI3 EYA1
5 negative regulation of transcription, DNA-templated GO:0045892 10.03 SIX5 SIX2 SIX1 SALL2 SALL1 PAX2
6 heart development GO:0007507 9.98 TBX5 SALL4 SALL1 GLI3 CTNNB1
7 kidney development GO:0001822 9.89 SIX2 SIX1 SALL1 GLI3 CTNNB1
8 lung development GO:0030324 9.85 TBX5 GLI3 CTNNB1
9 embryonic digit morphogenesis GO:0042733 9.84 SALL1 HOXD13 GLI3 CTNNB1
10 embryonic skeletal system morphogenesis GO:0048704 9.83 SIX2 SIX1 GLI3 EYA1
11 inner ear morphogenesis GO:0042472 9.82 SIX1 PAX2 EYA1
12 negative regulation of cell differentiation GO:0045596 9.81 SIX2 GLI3 CTNNB1
13 neural tube development GO:0021915 9.81 SALL4 SALL2 GLI3 DACT1
14 limb development GO:0060173 9.8 SALL1 GLI3 CTNNB1
15 ureteric bud development GO:0001657 9.8 SIX1 SALL1 EYA1
16 ventricular septum development GO:0003281 9.79 TBX5 SALL4 SALL1
17 metanephros development GO:0001656 9.78 SIX2 GLI3 EYA1
18 cochlea morphogenesis GO:0090103 9.75 SIX1 PAX2 EYA1
19 middle ear morphogenesis GO:0042474 9.74 SIX2 SIX1 EYA1
20 anatomical structure development GO:0048856 9.72 SIX5 SIX2 SIX1 GLI3 EYA1
21 positive regulation of neuroblast proliferation GO:0002052 9.7 GLI3 CTNNB1
22 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.7 SIX1 PAX2
23 male genitalia development GO:0030539 9.7 HOXD13 CTNNB1
24 pharyngeal system development GO:0060037 9.69 SIX1 EYA1
25 embryonic digestive tract development GO:0048566 9.69 SALL1 GLI3
26 embryonic digestive tract morphogenesis GO:0048557 9.69 SIX2 GLI3
27 anterior/posterior axis specification GO:0009948 9.68 SIX2 CTNNB1
28 cell fate determination GO:0001709 9.68 PAX2 CTNNB1
29 neuron fate specification GO:0048665 9.68 SIX1 EYA1
30 aorta morphogenesis GO:0035909 9.68 SIX1 EYA1
31 prostate gland development GO:0030850 9.67 HOXD13 GLI3
32 tongue development GO:0043586 9.67 SIX1 GLI3
33 layer formation in cerebral cortex GO:0021819 9.66 GLI3 CTNNB1
34 forelimb morphogenesis GO:0035136 9.66 TBX5 SALL3
35 outer ear morphogenesis GO:0042473 9.65 SALL1 EYA1
36 metanephric mesenchyme development GO:0072075 9.65 SIX1 PAX2
37 otic vesicle development GO:0071599 9.65 SIX1 EYA1
38 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.65 SIX2 SALL1 PAX2
39 pattern specification process GO:0007389 9.65 TBX5 SIX1 HOXD13 GLI3 EYA1
40 optic nerve morphogenesis GO:0021631 9.63 PAX2 GLI3
41 mesodermal cell fate specification GO:0007501 9.63 SIX2 PAX2 EYA1
42 metanephros morphogenesis GO:0003338 9.62 FRAS1 CTNNB1
43 embryonic hindgut morphogenesis GO:0048619 9.6 HOXD13 DACT1
44 embryonic limb morphogenesis GO:0030326 9.55 TBX5 SALL4 HOXD13 GLI3 FRAS1
45 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.54 TBX5 SIX1 EYA1
46 positive regulation of transcription by RNA polymerase II GO:0045944 9.44 TBX5 SIX5 SIX2 SIX1 SALL4 SALL2
47 branching involved in ureteric bud morphogenesis GO:0001658 9.43 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 sequence-specific DNA binding GO:0043565 9.91 TBX5 SIX5 SIX2 SIX1 HOXD13 GLI3
2 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.85 TBX5 SIX5 SIX2 SIX1 SALL2 HOXD13
3 transcription factor binding GO:0008134 9.8 TBX5 SIX2 SALL4 PAX2 CTNNB1
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.8 TBX5 SIX5 SIX2 SIX1 SALL1 HOXD13
5 DNA binding GO:0003677 9.77 THAP5 TERF1 TBX5 SIX5 SIX2 SIX1
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.76 SIX5 SIX2 SIX1 PAX2
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.76 THAP5 TBX5 SIX5 SIX2 SIX1 PAX2
8 beta-catenin binding GO:0008013 9.62 SALL1 GLI3 DACT1 CTNNB1
9 DNA-binding transcription factor activity GO:0003700 9.36 TBX5 SIX2 SIX1 SALL4 SALL3 SALL2
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Sources for Townes-Brocks Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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57 OMIM via Orphanet
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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