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MCID: TWN003
MIFTS: 54

Townes-Brocks Syndrome

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways 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 77 25 54 26 60 38 56 15
Townes Syndrome 54 26 60 30 6
Renal-Ear-Anal-Radial Syndrome 54 26 60
Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs 54 60
Imperforate Anus-Hand, Foot and Ear Anomalies Syndrome 54 60
Rear Syndrome 54 60
Tbs 54 60
Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs 54
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 26
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 26
Anus, Imperforate, with Hand, Foot and Ear Anomalies 54
Imperforate Anus with Hand, Foot and Ear Anomalies 54
Imperforate Anus-Hand and Foot Anomalies Syndrome 26
Anal-Ear-Renal-Radial Malformation Syndrome 26
Syndrome, Townes-Brocks 41

Characteristics:

Orphanet epidemiological data:

60
townes-brocks syndrome
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Nephrological diseases Ear diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
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 : 54 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 duane-radial ray syndrome and hemifacial microsomia. An important gene associated with Townes-Brocks Syndrome is SALL1 (Spalt Like Transcription Factor 1), and among its related pathways/superpathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Adherens junction. Affiliated tissues include kidney, skin and uterus, and related phenotypes are external ear malformation and anal atresia

Disease Ontology : 12 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 : 26 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.

Wikipedia : 77 Townes–Brocks syndrome (TBS) is a rare genetic disease that has been described in approximately 200... more...

GeneReviews:
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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 209)
# Related Disease Score Top Affiliating Genes
1 duane-radial ray syndrome 31.3 SALL1 SALL4
2 hemifacial microsomia 30.3 SALL1 SALL4
3 townes-brocks syndrome 1 12.9
4 townes-brocks syndrome 2 12.9
5 mycobacterium tuberculosis 1 12.4
6 tuberculous meningitis 11.9
7 multidrug-resistant tuberculosis 11.8
8 extrapulmonary tuberculosis 11.6
9 pulmonary tuberculosis 11.6
10 miliary tuberculosis 11.4
11 tuberculous peritonitis 11.3
12 temple-baraitser syndrome 11.1
13 horns in sheep 10.7
14 anus, imperforate 10.3
15 hypothyroidism 10.3
16 meningitis 10.3
17 blood group, colton system 10.3
18 human immunodeficiency virus infectious disease 10.2
19 human immunodeficiency virus type 1 10.2
20 hepatitis 10.2
21 uveitis 10.2
22 duane retraction syndrome 1 10.2
23 hemifacial microsomia with radial defects 10.2
24 pendred syndrome 10.2
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
26 end stage renal failure 10.2
27 thrombocytopenia 10.2
28 congenital hypothyroidism 10.2
29 microphthalmia 10.2
30 urinary tract obstruction 10.2
31 craniofacial microsomia 10.2
32 chromosomal triplication 10.2
33 mosaic trisomy 8 10.2
34 dysphagia 10.2
35 renal dysplasia 10.2
36 rheumatoid arthritis 10.2
37 arthritis 10.2
38 viral hepatitis 10.2
39 pleural tuberculosis 10.1
40 lymphadenitis 10.1
41 cytokine deficiency 10.1
42 osteoporotic fracture 10.1
43 esophageal basaloid squamous cell carcinoma 10.1 CTNNB1 DACT1
44 radin blood group antigen 10.1
45 spondylitis 10.1
46 leprosy 3 10.0
47 inflammatory bowel disease 10.0
48 osteomyelitis 10.0
49 infertility 10.0
50 pneumonia 10.0

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:

60 33 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 external ear malformation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008572
2 anal atresia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002023
3 preauricular skin tag 60 33 hallmark (90%) Very frequent (99-80%) HP:0000384
4 rectovaginal fistula 60 33 hallmark (90%) Very frequent (99-80%) HP:0000143
5 preaxial hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001177
6 triphalangeal thumb 60 33 hallmark (90%) Very frequent (99-80%) HP:0001199
7 rectoperineal fistula 60 33 hallmark (90%) Very frequent (99-80%) HP:0004792
8 constipation 60 33 frequent (33%) Frequent (79-30%) HP:0002019
9 hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000365
10 pes planus 60 33 frequent (33%) Frequent (79-30%) HP:0001763
11 microtia 60 33 frequent (33%) Frequent (79-30%) HP:0008551
12 renal insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0000083
13 subcutaneous nodule 60 33 frequent (33%) Frequent (79-30%) HP:0001482
14 toe clinodactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001863
15 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
16 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
17 overfolded helix 60 33 frequent (33%) Frequent (79-30%) HP:0000396
18 anteriorly placed anus 60 33 frequent (33%) Frequent (79-30%) HP:0001545
19 agenesis of corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0001274
20 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
21 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
22 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
23 bowel incontinence 60 33 occasional (7.5%) Occasional (29-5%) HP:0002607
24 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
25 abnormal vertebral morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0003468
26 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
27 broad hallux phalanx 60 33 occasional (7.5%) Occasional (29-5%) HP:0010059
28 broad thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0011304
29 delayed puberty 60 33 occasional (7.5%) Occasional (29-5%) HP:0000823
30 cranial nerve paralysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0006824
31 abnormality of vision 60 33 occasional (7.5%) Occasional (29-5%) HP:0000504
32 ectopic kidney 60 33 occasional (7.5%) Occasional (29-5%) HP:0000086
33 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
34 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
35 atrial septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001631
36 chorioretinal coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000567
37 wide mouth 60 33 occasional (7.5%) Occasional (29-5%) HP:0000154
38 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
39 hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000047
40 arnold-chiari malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002308
41 multiple renal cysts 60 33 occasional (7.5%) Occasional (29-5%) HP:0005562
42 vesicoureteral reflux 60 33 occasional (7.5%) Occasional (29-5%) HP:0000076
43 abnormality of the uterus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000130
44 tetralogy of fallot 60 33 occasional (7.5%) Occasional (29-5%) HP:0001636
45 renal hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000089
46 abnormality of the ribs 60 33 occasional (7.5%) Occasional (29-5%) HP:0000772
47 hypoplasia of penis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008736
48 blepharophimosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000581
49 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
50 bifid scrotum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000048

MGI Mouse Phenotypes related to Townes-Brocks Syndrome:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10 CCP110 CTNNB1 DACT1 EYA1 SALL1 SALL2
2 growth/size/body region MP:0005378 9.98 CCP110 CTNNB1 DACT1 EYA1 LMO7 SALL1
3 cardiovascular system MP:0005385 9.97 CCP110 CTNNB1 DACT1 EYA1 SALL1 SALL4
4 mortality/aging MP:0010768 9.97 CCP110 CEP97 CTNNB1 DACT1 EYA1 LMO7
5 digestive/alimentary MP:0005381 9.95 CCP110 CTNNB1 DACT1 EYA1 SALL1 SALL4
6 nervous system MP:0003631 9.86 CCP110 CTNNB1 DACT1 EYA1 LMO7 SALL1
7 limbs/digits/tail MP:0005371 9.77 CCP110 CTNNB1 DACT1 SALL1 SALL4
8 hearing/vestibular/ear MP:0005377 9.71 CTNNB1 EYA1 SALL1 SALL4
9 renal/urinary system MP:0005367 9.7 CCP110 CTNNB1 DACT1 EYA1 SALL1 SALL2
10 skeleton MP:0005390 9.43 CCP110 CTNNB1 DACT1 EYA1 SALL1 SALL4
11 vision/eye MP:0005391 9.02 CCP110 CTNNB1 EYA1 LMO7 SALL4
Sources

Drugs & Therapeutics for Townes-Brocks Syndrome

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

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Genetic Tests for Townes-Brocks Syndrome

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Genetic tests related to Townes-Brocks Syndrome:

# Genetic test Affiliating Genes
1 Townes Syndrome 30
Sources

Anatomical Context for Townes-Brocks Syndrome

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MalaCards organs/tissues related to Townes-Brocks Syndrome:

42
Kidney, Skin, Uterus, T Cells, Lymph Node, Tongue, Neutrophil
Sources

Publications for Townes-Brocks Syndrome

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Articles related to Townes-Brocks Syndrome:

(show top 50) (show all 64)
# Title Authors Year
1
Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. ( 29395072 )
2018
2
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. ( 28054444 )
2017
3
On-Top Index Pollicization After a Partial Amputation of a Syndactylized Hypoplastic Thumb in a Patient With Townes-Brocks Syndrome. ( 28509696 )
2017
4
Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. ( 27073431 )
2016
5
Deletion upstream of SALL1 producing Townes-Brocks syndrome. ( 27277004 )
2016
6
Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome. ( 25192472 )
2015
7
A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury. ( 26311113 )
2015
8
Endocrine abnormalities in Townes-Brocks syndrome. ( 23894113 )
2013
9
Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome. ( 22228756 )
2012
10
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. ( 22308078 )
2012
11
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome. ( 23716951 )
2012
12
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. ( 21253317 )
2010
13
Phenotypic variability in a family with Townes-Brocks syndrome. ( 20520617 )
2010
14
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. ( 19737635 )
2009
15
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. ( 19204018 )
2009
16
Townes-Brocks syndrome--airway management conditions improve with age: report of follow up of a single case. ( 19236659 )
2009
17
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. ( 19291771 )
2009
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
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. ( 18470945 )
2008
20
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. ( 18813423 )
2008
21
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). ( 19005989 )
2008
22
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. ( 17221874 )
2007
23
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
24
Townes-Brocks syndrome with hypothyroidism. ( 17351307 )
2007
25
Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome? ( 17668723 )
2007
26
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? ( 17910067 )
2007
27
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. ( 16470706 )
2006
28
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
29
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. ( 16892410 )
2006
30
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. ( 16088922 )
2005
31
Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. ( 15158448 )
2004
32
Townes-Brocks syndrome. ( 15297694 )
2004
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
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. ( 12915476 )
2003
35
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. ( 14627694 )
2003
36
Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes. ( 12925729 )
2003
37
Somatic mosaicism and variable expression of Townes-Brocks syndrome. ( 12210359 )
2002
38
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. ( 11478532 )
2001
39
Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome. ( 11404093 )
2001
40
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. ( 11484202 )
2001
41
SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. ( 11751684 )
2001
42
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. ( 10654325 )
2000
43
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. ( 10819639 )
2000
44
SALL1 mutations in Townes-Brocks syndrome and related disorders. ( 11102974 )
2000
45
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. ( 9973281 )
1999
46
Townes-Brocks syndrome. ( 10051003 )
1999
47
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. ( 10533063 )
1999
48
Two cases of Townes-Brocks syndrome. ( 10631923 )
1999
49
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. ( 9425907 )
1998
50
Two cases of Townes-Brocks syndrome with previously undescribed anomalies. ( 9823498 )
1998
Sources

Variations for Townes-Brocks Syndrome

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ClinVar genetic disease variations for Townes-Brocks Syndrome:

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 SALL1 NM_002968.2(SALL1): c.967C> T (p.Gln323Ter) single nucleotide variant Pathogenic rs104894538 GRCh37 Chromosome 16, 51175166: 51175166
2 SALL1 NM_002968.2(SALL1): c.967C> T (p.Gln323Ter) single nucleotide variant Pathogenic rs104894538 GRCh38 Chromosome 16, 51141255: 51141255
3 SALL1 NM_002968.2(SALL1): c.3120A> G (p.Thr1040=) single nucleotide variant Likely benign rs146655918 GRCh37 Chromosome 16, 51173013: 51173013
4 SALL1 NM_002968.2(SALL1): c.3120A> G (p.Thr1040=) single nucleotide variant Likely benign rs146655918 GRCh38 Chromosome 16, 51139102: 51139102
5 SALL1 NM_001127892.1(SALL1): c.3581A> G (p.Asn1194Ser) single nucleotide variant Benign/Likely benign rs74499562 GRCh37 Chromosome 16, 51171126: 51171126
6 SALL1 NM_001127892.1(SALL1): c.3581A> G (p.Asn1194Ser) single nucleotide variant Benign/Likely benign rs74499562 GRCh38 Chromosome 16, 51137215: 51137215
7 SALL1 NM_002968.2(SALL1): c.3160C> T (p.Arg1054Ter) single nucleotide variant Uncertain significance rs864321635 GRCh37 Chromosome 16, 51172973: 51172973
8 SALL1 NM_002968.2(SALL1): c.3160C> T (p.Arg1054Ter) single nucleotide variant Uncertain significance rs864321635 GRCh38 Chromosome 16, 51139062: 51139062
9 SALL1 NM_002968.2(SALL1): c.292A> G (p.Met98Val) single nucleotide variant Benign rs28643388 GRCh37 Chromosome 16, 51175841: 51175841
10 SALL1 NM_002968.2(SALL1): c.292A> G (p.Met98Val) single nucleotide variant Benign rs28643388 GRCh38 Chromosome 16, 51141930: 51141930
11 SALL1 NM_002968.2(SALL1): c.2544A> G (p.Gln848=) single nucleotide variant Benign/Likely benign rs45459896 GRCh37 Chromosome 16, 51173589: 51173589
12 SALL1 NM_002968.2(SALL1): c.2544A> G (p.Gln848=) single nucleotide variant Benign/Likely benign rs45459896 GRCh38 Chromosome 16, 51139678: 51139678
13 SALL1 NM_002968.2(SALL1): c.2343G> C (p.Leu781=) single nucleotide variant Benign rs60270998 GRCh38 Chromosome 16, 51139879: 51139879
14 SALL1 NM_002968.2(SALL1): c.2343G> C (p.Leu781=) single nucleotide variant Benign rs60270998 GRCh37 Chromosome 16, 51173790: 51173790
15 SALL1 NM_002968.2(SALL1): c.2310C> T (p.Ile770=) single nucleotide variant Benign rs61740811 GRCh38 Chromosome 16, 51139912: 51139912
16 SALL1 NM_002968.2(SALL1): c.2310C> T (p.Ile770=) single nucleotide variant Benign rs61740811 GRCh37 Chromosome 16, 51173823: 51173823
17 SALL1 NM_002968.2(SALL1): c.487_489dupGGC (p.Gly163_Ser164insGly) duplication Conflicting interpretations of pathogenicity rs1555475414 GRCh38 Chromosome 16, 51141733: 51141735
18 SALL1 NM_002968.2(SALL1): c.487_489dupGGC (p.Gly163_Ser164insGly) duplication Conflicting interpretations of pathogenicity rs1555475414 GRCh37 Chromosome 16, 51175644: 51175646
19 SALL1 NM_002968.2(SALL1): c.475_477dupAGC (p.Ser159_Gly160insSer) duplication Benign/Likely benign rs113614842 GRCh38 Chromosome 16, 51141745: 51141747
20 SALL1 NM_002968.2(SALL1): c.475_477dupAGC (p.Ser159_Gly160insSer) duplication Benign/Likely benign rs113614842 GRCh37 Chromosome 16, 51175656: 51175658
21 SALL1 NM_002968.2(SALL1): c.390G> A (p.Pro130=) single nucleotide variant Benign/Likely benign rs75156807 GRCh38 Chromosome 16, 51141832: 51141832
22 SALL1 NM_002968.2(SALL1): c.390G> A (p.Pro130=) single nucleotide variant Benign/Likely benign rs75156807 GRCh37 Chromosome 16, 51175743: 51175743
23 SALL1 NM_002968.2(SALL1): c.3414_3415delAT (p.Cys1139Trpfs) deletion Pathogenic rs1064793257 GRCh38 Chromosome 16, 51138807: 51138808
24 SALL1 NM_002968.2(SALL1): c.3414_3415delAT (p.Cys1139Trpfs) deletion Pathogenic rs1064793257 GRCh37 Chromosome 16, 51172718: 51172719
25 SALL1 NM_002968.2(SALL1): c.1214dup (p.Leu406Phefs) duplication Pathogenic rs1555475275 GRCh37 Chromosome 16, 51174919: 51174919
26 SALL1 NM_002968.2(SALL1): c.1214dup (p.Leu406Phefs) duplication Pathogenic rs1555475275 GRCh38 Chromosome 16, 51141008: 51141008
27 SALL1 NM_002968.2(SALL1): c.855A> G (p.Leu285=) single nucleotide variant Likely benign rs762324270 GRCh37 Chromosome 16, 51175278: 51175278
28 SALL1 NM_002968.2(SALL1): c.855A> G (p.Leu285=) single nucleotide variant Likely benign rs762324270 GRCh38 Chromosome 16, 51141367: 51141367
29 SALL1 NM_002968.2(SALL1): c.2256delC (p.Tyr753Thrfs) deletion Pathogenic rs1555475120 GRCh37 Chromosome 16, 51173877: 51173877
30 SALL1 NM_002968.2(SALL1): c.2256delC (p.Tyr753Thrfs) deletion Pathogenic rs1555475120 GRCh38 Chromosome 16, 51139966: 51139966
31 SALL1 NM_002968.2(SALL1): c.3199C> T (p.Leu1067Phe) single nucleotide variant Likely benign rs1375814966 GRCh37 Chromosome 16, 51172934: 51172934
32 SALL1 NM_002968.2(SALL1): c.3199C> T (p.Leu1067Phe) single nucleotide variant Likely benign rs1375814966 GRCh38 Chromosome 16, 51139023: 51139023
33 SALL1 NC_000016.10: g.(?_51137092)_(51151261_?)del deletion Pathogenic GRCh37 Chromosome 16, 51171003: 51185172
34 SALL1 NC_000016.10: g.(?_51137092)_(51151261_?)del deletion Pathogenic GRCh38 Chromosome 16, 51137092: 51151261
35 SALL1 NM_002968.2(SALL1): c.2356delC (p.Arg786Glufs) deletion Pathogenic rs1555475106 GRCh38 Chromosome 16, 51139866: 51139866
36 SALL1 NM_002968.2(SALL1): c.2356delC (p.Arg786Glufs) deletion Pathogenic rs1555475106 GRCh37 Chromosome 16, 51173777: 51173777
37 SALL1 NM_002968.2(SALL1): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs1555475319 GRCh38 Chromosome 16, 51141264: 51141264
38 SALL1 NM_002968.2(SALL1): c.958C> T (p.Gln320Ter) single nucleotide variant Pathogenic rs1555475319 GRCh37 Chromosome 16, 51175175: 51175175
39 SALL1 NM_002968.2(SALL1): c.866T> A (p.Leu289Ter) single nucleotide variant Pathogenic rs1555475334 GRCh38 Chromosome 16, 51141356: 51141356
40 SALL1 NM_002968.2(SALL1): c.866T> A (p.Leu289Ter) single nucleotide variant Pathogenic rs1555475334 GRCh37 Chromosome 16, 51175267: 51175267
41 SALL1 NM_002968.2(SALL1): c.264C> T (p.Ser88=) single nucleotide variant Benign rs143501736 GRCh37 Chromosome 16, 51175869: 51175869
42 SALL1 NM_002968.2(SALL1): c.264C> T (p.Ser88=) single nucleotide variant Benign rs143501736 GRCh38 Chromosome 16, 51141958: 51141958
43 SALL1 NM_002968.2(SALL1): c.1014T> G (p.Ser338=) single nucleotide variant Likely benign rs960886445 GRCh37 Chromosome 16, 51175119: 51175119
44 SALL1 NM_002968.2(SALL1): c.1014T> G (p.Ser338=) single nucleotide variant Likely benign rs960886445 GRCh38 Chromosome 16, 51141208: 51141208
45 SALL1 NM_002968.2(SALL1): c.3584G> A (p.Arg1195Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 51171414: 51171414
46 SALL1 NM_002968.2(SALL1): c.3584G> A (p.Arg1195Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 51137503: 51137503
Sources

Expression for Townes-Brocks Syndrome

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

Pathways for Townes-Brocks Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Regulation of Wnt-mediated beta catenin signaling and target gene transcription 1
11.15 CTNNB1 SALL4
2
Adherens junction 38
11.01 CTNNB1 LMO7
3
Transcriptional regulation of pluripotent stem cells 67
Show member pathways
 10.65 SALL1 SALL4
4
Wnt/beta-catenin Signaling Pathway in Leukemia 1
10 CTNNB1 SALL4
Sources

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 cytoplasm GO:0005737 9.92 CCP110 CEP97 CTNNB1 DACT1 EYA1 LMO7
2 nucleoplasm GO:0005654 9.85 CTNNB1 DACT1 EYA1 LMO7 SALL1 SALL4
3 microtubule organizing center GO:0005815 9.58 CCP110 CEP97 CTNNB1
4 protein-DNA complex GO:0032993 9.26 CTNNB1 EYA1
5 heterochromatin GO:0000792 9.16 SALL1 SALL4
6 protein-containing complex GO:0032991 9.02 CCP110 CEP97 CTNNB1 EYA1 SALL4
7 beta-catenin destruction complex GO:0030877 8.96 CTNNB1 DACT1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.65 CTNNB1 DACT1 SALL1 SALL2 SALL4
2 heart development GO:0007507 9.63 CTNNB1 SALL1 SALL4
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.63 CTNNB1 EYA1 LMO7 SALL1 SALL2 SALL4
4 embryonic digit morphogenesis GO:0042733 9.55 CTNNB1 SALL1
5 stem cell population maintenance GO:0019827 9.54 CTNNB1 SALL4
6 somatic stem cell population maintenance GO:0035019 9.52 SALL1 SALL4
7 ureteric bud development GO:0001657 9.51 EYA1 SALL1
8 limb development GO:0060173 9.49 CTNNB1 SALL1
9 positive regulation of Wnt signaling pathway GO:0030177 9.48 DACT1 SALL1
10 regulation of canonical Wnt signaling pathway GO:0060828 9.43 CTNNB1 DACT1
11 ventricular septum development GO:0003281 9.4 SALL1 SALL4
12 negative regulation of cilium assembly GO:1902018 9.37 CCP110 CEP97
13 outer ear morphogenesis GO:0042473 9.32 EYA1 SALL1
14 neural tube development GO:0021915 9.13 DACT1 SALL2 SALL4
15 branching involved in ureteric bud morphogenesis GO:0001658 8.8 CTNNB1 EYA1 SALL1

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

# Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 8.96 DACT1 SALL1
2 RNA polymerase II transcription factor binding GO:0001085 8.62 CTNNB1 DACT1
Sources

Sources for Townes-Brocks Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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