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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, Reproductive 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 73 25 20 43 58 36 54 15
Townes Syndrome 20 43 58 29 6
Renal-Ear-Anal-Radial Syndrome 20 43 58
Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs 20 58
Imperforate Anus-Hand, Foot and Ear Anomalies Syndrome 20 58
Anus, Imperforate, with Hand, Foot and Ear Anomalies 20 6
Rear Syndrome 20 58
Tbs 20 58
Sensorineural Hearing Loss with Imperforate Anus and Hypoplastic Thumbs 58
Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs 20
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 43
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 43
Imperforate Anus with Hand, Foot and Ear Anomalies 20
Imperforate Anus-Hand and Foot Anomalies Syndrome 43
Anal-Ear-Renal-Radial Malformation Syndrome 43
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:

25
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 Reproductive 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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GARD : 20 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, eye and uterus, 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.

MedlinePlus Genetics : 43 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 : 73 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 148)
# Related Disease Score Top Affiliating Genes
1 cakut 31.7 SIX5 SIX2 SIX1 SALL1 PAX2 FRAS1
2 anus, imperforate 30.9 SALL1 LINC02911 HOXD13 GLI3 FRAS1 CTNNB1
3 renal hypoplasia 30.6 SIX2 SIX1 SALL1 PAX2 EYA1
4 microphthalmia 30.5 SALL2 SALL1 PAX2 FRAS1 EYA1 CTNNB1
5 coloboma of macula 30.5 TBX5 SALL2 SALL1 PAX2 FRAS1 EYA1
6 synostosis 30.2 SALL4 HOXD13 GLI3 FRAS1
7 chromosome 2q35 duplication syndrome 30.2 SALL1 HOXD13 GLI3 FRAS1
8 renal hypodysplasia/aplasia 1 30.1 SIX5 SIX2 SIX1 SALL1 PAX2 HOXD13
9 townes-brocks syndrome 1 11.9
10 townes-brocks syndrome 2 11.8
11 temple-baraitser syndrome 11.0
12 polydactyly 10.6
13 sensorineural hearing loss 10.6
14 branchiootic syndrome 1 10.6
15 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
16 osteoporosis 10.4
17 bone mineral density quantitative trait locus 8 10.4
18 bone mineral density quantitative trait locus 15 10.4
19 hemifacial microsomia 10.4
20 hypothyroidism 10.4
21 kidney disease 10.4
22 bilateral renal aplasia 10.3 PAX2 EYA1
23 ivic syndrome 10.3 SALL4 SALL2 SALL1
24 exudative vitreoretinopathy 7 10.3 TBX5 CTNNB1
25 holzgreve syndrome 10.3 GLI3 CTNNB1
26 lacrimal duct obstruction 10.3 SIX5 EYA1
27 duane retraction syndrome 1 10.3
28 vater/vacterl association 10.3
29 patent ductus arteriosus 1 10.3
30 rapidly involuting congenital hemangioma 10.3
31 heart disease 10.3
32 vacterl association 10.3
33 ventricular septal defect 10.3
34 heart septal defect 10.3
35 cataract 10.3
36 craniofacial microsomia 10.3
37 horseshoe kidney 10.3
38 renal dysplasia 10.3
39 prune belly syndrome 10.3 SIX1 SALL1 PAX2
40 branchiootorenal spectrum disorder 10.3 SIX5 SIX1 EYA1
41 oligomeganephronia 10.3 PAX2 EYA1
42 congenital anomalies of kidney and urinary tract 2 10.3 SIX5 PAX2 EYA1
43 eustachian tube disease 10.3 SIX1 EYA1
44 deafness, autosomal dominant 10 10.3 SIX5 SIX1 EYA1
45 branchiootorenal syndrome 2 10.3 SIX5 SIX1 EYA1
46 wilson-turner x-linked mental retardation syndrome 10.2 SIX2 SIX1 CTNNB1
47 patulous eustachian tube 10.2 SIX1 EYA1
48 branchiootorenal syndrome 1 10.2 SIX5 SIX1 EYA1
49 hyperparathyroidism 10.2
50 glioblastoma 10.2

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 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
9 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
10 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
11 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
12 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
13 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
14 subcutaneous nodule 58 31 frequent (33%) Frequent (79-30%) HP:0001482
15 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
16 overfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0000396
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 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
20 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
21 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
22 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
23 bowel incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0002607
24 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
25 abnormal vertebral morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0003468
26 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
27 broad hallux phalanx 58 31 occasional (7.5%) Occasional (29-5%) HP:0010059
28 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
29 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
30 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
31 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
32 ectopic kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000086
33 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
34 wide mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000154
35 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
36 bifid scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000048
37 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
38 chorioretinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000567
39 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
40 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
41 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
42 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
43 abnormality of vision 58 31 occasional (7.5%) Occasional (29-5%) HP:0000504
44 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
45 multiple renal cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0005562
46 abnormality of the uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000130
47 abnormal pulmonary valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001641
48 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
49 renal hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000089
50 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581

MGI Mouse Phenotypes related to Townes-Brocks Syndrome:

46 (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, Eye, Uterus, Heart, Brain, Olfactory Bulb, Pituitary
Sources

Publications for Townes-Brocks Syndrome

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Articles related to Townes-Brocks Syndrome:

(show top 50) (show all 139)
# Title Authors PMID Year
1
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. 25 6 54 61
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. 6 25 54 61
11478532 2001
3
SALL1 mutations in Townes-Brocks syndrome and related disorders. 54 61 25 6
11102974 2000
4
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 61 6 54 25
9973281 1999
5
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. 25 6 61 54
10533063 1999
6
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. 6 25 61 54
9425907 1998
7
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. 25 6 61
22308078 2012
8
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. 25 6 61
14627694 2003
9
Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome? 25 61 6
8133838 1993
10
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). 61 6 54
19005989 2008
11
Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. 54 61 6
18000979 2007
12
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. 54 6 61
17221874 2007
13
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 6 54
16429401 2006
14
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. 54 6 61
16088922 2005
15
Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. 6 61
29395072 2018
16
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. 61 54 25
20003547 2009
17
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. 25 61 54
19291771 2009
18
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. 6 61
17431915 2007
19
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. 25 54 61
16892410 2006
20
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. 61 25 54
16470706 2006
21
Defining the heterochromatin localization and repression domains of SALL1. 61 25 54
16443351 2006
22
Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. 25 61 54
15158448 2004
23
Okihiro syndrome is caused by SALL4 mutations. 54 61 25
12393809 2002
24
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. 61 25 54
10819639 2000
25
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. 54 61 25
10654325 2000
26
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 6
26380986 2015
27
Endocrine abnormalities in Townes-Brocks syndrome. 25 61
23894113 2013
28
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. 25 61
21253317 2010
29
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? 61 25
17910067 2007
30
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. 25 61
12915476 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. 25 61
12482848 2003
32
Somatic mosaicism and variable expression of Townes-Brocks syndrome. 25 61
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. 61 25
11751684 2001
34
Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development. 25 61
11688560 2001
35
csal1 is controlled by a combination of FGF and Wnt signals in developing limb buds. 25 61
10985862 2000
36
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. 25 61
8669439 1996
37
Phenotypic variability in Townes-Brocks syndrome. 25 61
6741990 1984
38
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. 25
24429398 2014
39
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome. 25
23069192 2013
40
Overexpression of Sall1 in vivo leads to reduced body weight without affecting kidney development. 61 54
20053786 2010
41
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. 61 54
19204018 2009
42
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. 54 61
18470945 2008
43
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. 61 54
18280297 2008
44
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
45
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. 54 61
16971658 2006
46
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. 61 54
16790473 2006
47
Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology. 25
16299066 2006
48
Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. 61 54
16670092 2006
49
sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth. 25
16501170 2006
50
Expression of csal1 in pre limb-bud chick embryos. 54 61
15968588 2005
Sources

Variations for Townes-Brocks Syndrome

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ClinVar genetic disease variations for Townes-Brocks Syndrome:

6 (show top 50) (show all 91)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SALL1 NM_002968.3(SALL1):c.1270del (p.Gln424fs) Deletion Pathogenic 7426 rs1597230349 GRCh37: 16:51174863-51174863
GRCh38: 16:51140952-51140952
2 SALL1 NM_002968.2(SALL1):c.1115C>A (p.Ser372Ter) SNV Pathogenic 7427 rs104894535 GRCh37: 16:51175018-51175018
GRCh38: 16:51141107-51141107
3 SALL1 NM_002968.2(SALL1):c.1115C>G (p.Ser372Ter) SNV Pathogenic 7429 rs104894535 GRCh37: 16:51175018-51175018
GRCh38: 16:51141107-51141107
4 SALL1 NM_002968.3(SALL1):c.1277_1278del (p.Arg426fs) Deletion Pathogenic 7430 rs1597230341 GRCh37: 16:51174855-51174856
GRCh38: 16:51140944-51140945
5 SALL1 NM_001127892.1(SALL1):c.1054_1055CA[1] (p.His352fs) Microsatellite Pathogenic 7431 rs1597230241 GRCh37: 16:51174785-51174786
GRCh38: 16:51140874-51140875
6 SALL1 NM_002968.3(SALL1):c.792_793del (p.Leu264fs) Deletion Pathogenic 7433 rs1597230909 GRCh37: 16:51175340-51175341
GRCh38: 16:51141429-51141430
7 SALL1 NM_002968.2(SALL1):c.1256T>A (p.Leu419Ter) SNV Pathogenic 7435 rs137853084 GRCh37: 16:51174877-51174877
GRCh38: 16:51140966-51140966
8 SALL1 NM_002968.3(SALL1):c.995del (p.Pro332fs) Deletion Pathogenic 7436 rs1597230687 GRCh37: 16:51175138-51175138
GRCh38: 16:51141227-51141227
9 SALL1 SALL1, 2-BP DEL, 3414AT Deletion Pathogenic 7437 GRCh37:
GRCh38:
10 SALL1 NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) SNV Pathogenic 219151 rs864321635 GRCh37: 16:51172973-51172973
GRCh38: 16:51139062-51139062
11 SALL1 NM_002968.2(SALL1):c.1108_1109del (p.Val370fs) Deletion Pathogenic 426114 rs1085307143 GRCh37: 16:51175024-51175025
GRCh38: 16:51141113-51141114
12 SALL1 NM_002968.2(SALL1):c.2256del (p.Tyr753fs) Deletion Pathogenic 459258 rs1555475120 GRCh37: 16:51173877-51173877
GRCh38: 16:51139966-51139966
13 SALL1 NM_002968.2(SALL1):c.1214dup (p.Leu406fs) Duplication Pathogenic 459257 rs1555475275 GRCh37: 16:51174918-51174919
GRCh38: 16:51141007-51141008
14 SALL1 NM_002968.2(SALL1):c.2356del (p.Arg786fs) Deletion Pathogenic 528881 rs1555475106 GRCh37: 16:51173777-51173777
GRCh38: 16:51139866-51139866
15 SALL1 NM_002968.2(SALL1):c.3005_3008del (p.Ala1002fs) Deletion Pathogenic 663219 rs1597228188 GRCh37: 16:51173125-51173128
GRCh38: 16:51139214-51139217
16 SALL1 NM_002968.2(SALL1):c.866T>A (p.Leu289Ter) SNV Pathogenic 528879 rs1555475334 GRCh37: 16:51175267-51175267
GRCh38: 16:51141356-51141356
17 SALL1 NM_002968.2(SALL1):c.958C>T (p.Gln320Ter) SNV Pathogenic 528880 rs1555475319 GRCh37: 16:51175175-51175175
GRCh38: 16:51141264-51141264
18 SALL1 NC_000016.10:g.(?_51137092)_(51151261_?)del Deletion Pathogenic 528884 GRCh37: 16:51171003-51185172
GRCh38: 16:51137092-51151261
19 SALL1 NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) SNV Pathogenic 7434 rs104894538 GRCh37: 16:51175166-51175166
GRCh38: 16:51141255-51141255
20 SALL1 NM_002968.3(SALL1):c.1324del (p.Ser442fs) Deletion Pathogenic 648831 rs1597230288 GRCh37: 16:51174809-51174809
GRCh38: 16:51140898-51140898
21 SALL1 NM_002968.3(SALL1):c.420del (p.Ser141fs) Deletion Pathogenic 934902 GRCh37: 16:51175713-51175713
GRCh38: 16:51141802-51141802
22 SALL1 NM_002968.3(SALL1):c.871C>T (p.Gln291Ter) SNV Pathogenic 936315 GRCh37: 16:51175262-51175262
GRCh38: 16:51141351-51141351
23 SALL1 NM_002968.3(SALL1):c.750dup (p.Arg251fs) Duplication Pathogenic 947631 GRCh37: 16:51175382-51175383
GRCh38: 16:51141471-51141472
24 SALL1 NM_002968.3(SALL1):c.1873G>T (p.Glu625Ter) SNV Pathogenic 973255 GRCh37: 16:51174260-51174260
GRCh38: 16:51140349-51140349
25 SALL1 NM_002968.3(SALL1):c.1365_1366insGCAG (p.Lys456fs) Insertion Pathogenic 983477 GRCh37: 16:51174767-51174768
GRCh38: 16:51140856-51140857
26 SALL1 NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) SNV Pathogenic 7428 rs104894537 GRCh37: 16:51175307-51175307
GRCh38: 16:51141396-51141396
27 SALL1 NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) SNV Pathogenic 7428 rs104894537 GRCh37: 16:51175307-51175307
GRCh38: 16:51141396-51141396
28 SALL1 NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs) Duplication Pathogenic 807481 rs1597228568 GRCh37: 16:51173443-51173444
GRCh38: 16:51139532-51139533
29 SALL1 NM_002968.2(SALL1):c.3414_3415del (p.Cys1139fs) Deletion Pathogenic 418466 rs1064793257 GRCh37: 16:51172718-51172719
GRCh38: 16:51138807-51138808
30 SALL1 NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) SNV Pathogenic 7434 rs104894538 GRCh37: 16:51175166-51175166
GRCh38: 16:51141255-51141255
31 SALL1 NM_002968.3(SALL1):c.2801del (p.Ser934fs) Deletion Likely pathogenic 829881 rs1597228490 GRCh37: 16:51173332-51173332
GRCh38: 16:51139421-51139421
32 SALL1 NM_002968.3(SALL1):c.2287dup (p.Arg763fs) Duplication Likely pathogenic 830013 rs1597229151 GRCh37: 16:51173845-51173846
GRCh38: 16:51139934-51139935
33 SALL1 NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) SNV Conflicting interpretations of pathogenicity 208167 rs864621971 GRCh37: 16:51175184-51175184
GRCh38: 16:51141273-51141273
34 SALL1 NM_002968.2(SALL1):c.475_477delAGC Microsatellite Conflicting interpretations of pathogenicity 195187 rs113614842 GRCh37: 16:51175656-51175658
GRCh38: 16:51141745-51141747
35 SALL1 NM_001127892.1(SALL1):c.*920_*922CTT[2] Microsatellite Uncertain significance 319579 rs527584319 GRCh37: 16:51170095-51170097
GRCh38: 16:51136184-51136186
36 SALL1 NM_002968.2(SALL1):c.*1033dup Duplication Uncertain significance 319576 rs551604859 GRCh37: 16:51169989-51169990
GRCh38: 16:51136078-51136079
37 SALL1 NM_002968.2(SALL1):c.43G>A (p.Asp15Asn) SNV Uncertain significance 319622 rs886052085 GRCh37: 16:51185110-51185110
GRCh38: 16:51151199-51151199
38 SALL1 NM_002968.2(SALL1):c.*563del Deletion Uncertain significance 319587 rs886052078 GRCh37: 16:51170460-51170460
GRCh38: 16:51136549-51136549
39 SALL1 NM_001127892.1(SALL1):c.187_189GGC[5] (p.Gly66dup) Microsatellite Uncertain significance 258877 rs1555475414 GRCh37: 16:51175643-51175644
GRCh38: 16:51141732-51141733
40 SALL1 NM_001127892.1(SALL1):c.157_159AGC[7] (p.Ser60_Ser62del) Microsatellite Uncertain significance 224343 rs113614842 GRCh37: 16:51175656-51175664
GRCh38: 16:51141745-51141753
41 SALL1 NM_002968.2(SALL1):c.*705_*706del Deletion Uncertain significance 319583 rs886052076 GRCh37: 16:51170317-51170318
GRCh38: 16:51136406-51136407
42 SALL1 NM_002968.2(SALL1):c.477_478insAGCAGCGGC (p.Gly160_Gly161insSerSerGly) Insertion Uncertain significance 523050 rs1555475415 GRCh37: 16:51175655-51175656
GRCh38: 16:51141744-51141745
43 SALL1 NM_002968.3(SALL1):c.448_450AGC[12] (p.Ser158_Ser159dup) Microsatellite Uncertain significance 319615 rs113614842 GRCh37: 16:51175655-51175656
GRCh38: 16:51141744-51141745
44 SALL1 NM_002968.2(SALL1):c.130G>A (p.Val44Ile) SNV Uncertain significance 224342 rs373744120 GRCh37: 16:51176003-51176003
GRCh38: 16:51142092-51142092
45 SALL1 NM_002968.3(SALL1):c.424G>A (p.Gly142Ser) SNV Uncertain significance 854286 GRCh37: 16:51175709-51175709
GRCh38: 16:51141798-51141798
46 SALL1 NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu) SNV Uncertain significance 982425 GRCh37: 16:51171216-51171216
GRCh38: 16:51137305-51137305
47 SALL1 NM_002968.3(SALL1):c.1514A>G (p.His505Arg) SNV Uncertain significance 693986 rs776094507 GRCh37: 16:51174619-51174619
GRCh38: 16:51140708-51140708
48 SALL1 NM_002968.2(SALL1):c.548C>A (p.Thr183Lys) SNV Uncertain significance 654753 rs1417997778 GRCh37: 16:51175585-51175585
GRCh38: 16:51141674-51141674
49 SALL1 NM_002968.2(SALL1):c.3584G>A (p.Arg1195Gln) SNV Uncertain significance 574766 rs1030315086 GRCh37: 16:51171414-51171414
GRCh38: 16:51137503-51137503
50 SALL1 NM_002968.2(SALL1):c.3160C>T (p.Arg1054Ter) SNV Uncertain significance 219151 rs864321635 GRCh37: 16:51172973-51172973
GRCh38: 16:51139062-51139062
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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 9.97 THAP5 TERF1 TBX5 SIX1 SALL4 SALL1
2 nucleus GO:0005634 9.89 THAP5 TERF1 TBX5 SIX5 SIX2 SIX1
3 chromatin GO:0000785 9.87 THAP5 TBX5 SIX5 SIX2 SIX1 PAX2
4 transcription factor complex GO:0005667 9.56 SIX5 SIX2 SIX1 CTNNB1
5 beta-catenin destruction complex GO:0030877 9.37 DACT1 CTNNB1
6 protein-DNA complex GO:0032993 8.92 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 regulation of transcription, DNA-templated GO:0006355 10.22 TBX5 SIX5 SIX2 SIX1 PAX2 HOXD13
2 multicellular organism development GO:0007275 10.19 TBX5 SIX5 SIX2 SIX1 PAX2 HOXD13
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.14 THAP5 SIX1 SALL4 SALL2 SALL1 GLI3
4 positive regulation of transcription, DNA-templated GO:0045893 10.11 TBX5 SIX1 SALL1 PAX2 GLI3 EYA1
5 negative regulation of transcription, DNA-templated GO:0045892 10.09 SIX5 SIX1 SALL2 SALL1 PAX2 GLI3
6 heart development GO:0007507 9.98 TBX5 SALL4 SALL1 GLI3 CTNNB1
7 regulation of transcription by RNA polymerase II GO:0006357 9.93 TBX5 SIX5 SIX2 SIX1 SALL4 SALL3
8 kidney development GO:0001822 9.88 SIX2 SIX1 SALL1 GLI3 CTNNB1
9 lung development GO:0030324 9.84 TBX5 GLI3 CTNNB1
10 anatomical structure development GO:0048856 9.83 SIX1 PAX2 GLI3 EYA1
11 negative regulation of cell differentiation GO:0045596 9.82 SIX2 GLI3 CTNNB1
12 inner ear morphogenesis GO:0042472 9.81 SIX1 PAX2 EYA1
13 embryonic digit morphogenesis GO:0042733 9.81 SALL1 HOXD13 GLI3 CTNNB1
14 limb development GO:0060173 9.8 SALL1 GLI3 CTNNB1
15 embryonic skeletal system morphogenesis GO:0048704 9.8 SIX2 SIX1 GLI3 EYA1
16 ureteric bud development GO:0001657 9.79 SIX1 SALL1 EYA1
17 ventricular septum development GO:0003281 9.79 TBX5 SALL4 SALL1
18 metanephros development GO:0001656 9.78 SIX2 GLI3 EYA1
19 neural tube development GO:0021915 9.76 SALL4 SALL2 GLI3 DACT1
20 cochlea morphogenesis GO:0090103 9.75 SIX1 PAX2 EYA1
21 middle ear morphogenesis GO:0042474 9.73 SIX2 SIX1 EYA1
22 pattern specification process GO:0007389 9.72 TBX5 SIX1 HOXD13 GLI3 EYA1
23 positive regulation of neuroblast proliferation GO:0002052 9.7 GLI3 CTNNB1
24 morphogenesis of an epithelium GO:0002009 9.7 TBX5 FRAS1
25 anterior/posterior axis specification GO:0009948 9.7 SIX2 CTNNB1
26 cell fate determination GO:0001709 9.69 PAX2 CTNNB1
27 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.69 SIX1 PAX2
28 pharyngeal system development GO:0060037 9.69 SIX1 EYA1
29 male genitalia development GO:0030539 9.68 HOXD13 CTNNB1
30 neuron fate specification GO:0048665 9.68 SIX1 EYA1
31 embryonic digestive tract development GO:0048566 9.68 SALL1 GLI3
32 embryonic digestive tract morphogenesis GO:0048557 9.67 SIX2 GLI3
33 aorta morphogenesis GO:0035909 9.67 SIX1 EYA1
34 prostate gland development GO:0030850 9.66 HOXD13 GLI3
35 layer formation in cerebral cortex GO:0021819 9.66 GLI3 CTNNB1
36 tongue development GO:0043586 9.65 SIX1 GLI3
37 metanephric mesenchyme development GO:0072075 9.65 SIX1 PAX2
38 otic vesicle development GO:0071599 9.65 SIX1 EYA1
39 embryonic limb morphogenesis GO:0030326 9.65 TBX5 SALL4 HOXD13 GLI3 FRAS1
40 optic nerve morphogenesis GO:0021631 9.63 PAX2 GLI3
41 metanephros morphogenesis GO:0003338 9.62 FRAS1 CTNNB1
42 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.61 SIX2 SALL1 PAX2
43 embryonic hindgut morphogenesis GO:0048619 9.6 HOXD13 DACT1
44 mesodermal cell fate specification GO:0007501 9.58 SIX2 PAX2 EYA1
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 DNA binding GO:0003677 9.97 THAP5 TERF1 TBX5 SIX5 SIX2 SIX1
2 DNA-binding transcription factor activity GO:0003700 9.88 TBX5 SIX2 SIX1 PAX2 HOXD13 GLI3
3 sequence-specific double-stranded DNA binding GO:1990837 9.85 SIX2 SIX1 PAX2 HOXD13 GLI3
4 sequence-specific DNA binding GO:0043565 9.83 TBX5 SIX5 SIX2 SIX1 GLI3
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.8 TBX5 SIX5 SIX2 SIX1 SALL2 HOXD13
6 transcription factor binding GO:0008134 9.77 TBX5 SIX2 SALL4 PAX2 CTNNB1
7 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 TBX5 SIX5 SIX2 SIX1 SALL4 SALL3
8 beta-catenin binding GO:0008013 9.56 SALL1 GLI3 DACT1 CTNNB1
9 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.36 TBX5 SIX5 SIX2 SIX1 SALL4 SALL3
Sources

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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