TBS
MCID: TWN003
MIFTS: 62

Townes-Brocks Syndrome (TBS) malady

Genetic diseases, Rare diseases, Nephrological diseases, Ear diseases, Bone diseases, Fetal diseases categories
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Summaries for Townes-Brocks Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Townes-brocks syndrome (tbs), or renal-ear-anal-radial (rear) syndrome, is a multiple malformation syndrome. characteristics are present at birth and vary from person to person. the most common characteristics include an absence of the anal opening (imperforate anus) and anomalies of the ears, hands, and feet. hearing loss, malformations of the genital-renal system, craniofacial malformations, and mental retardation may also be present. this condition is extremely rare. males and females are affected in equal numbers.  last updated: 9/5/2008

MalaCards: Townes-Brocks Syndrome, also known as renal-ear-anal-radial syndrome, is related to tuberculosis and multidrug-resistant tuberculosis, and has symptoms including tetralogy of fallot/trilogy of fallot, cardiac septal defect and atrial septal defect/interauricular communication. An important gene associated with Townes-Brocks Syndrome is SALL1 (spalt-like transcription factor 1), and among its related pathways are Wnt Signaling Pathway and Adherens junction. The drugs risperidone and clonidine and the compounds arsenite and adpribose have been mentioned in the context of this disorder. Affiliated tissues include testes, kidney and uterus, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Genetics Home Reference:21 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.

Description from OMIM:47 107480

GeneReviews summary for tbs

Aliases & Classifications for Townes-Brocks Syndrome

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62UMLS, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
townes-brocks syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

townes-brocks syndrome 19 43 20 21 47 45 49
renal-ear-anal-radial syndrome 43 21 49
townes syndrome 21 49 62
rear syndrome 43 49
tbs 43 49
deafness, sensorineural, with imperforate anus and hypoplastic thumbs 43
sensorineural deafness with imperforate anus and hypoplastic thumbs 49
sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome 21
deafness-imperforate anus-hypoplastic thumbs syndrome 21
anus, imperforate, with hand, foot and ear anomalies 43
imperforate anus with hand, foot and ear anomalies 49
imperforate anus-hand and foot anomalies syndrome 21
anal-ear-renal-radial malformation syndrome 21
gilles de la tourette syndrome 62


External Ids:

OMIM47 107480
MESH via Orphanet36 C536974
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet59 24750000
UMLS via Orphanet63 C0265246

Related Diseases for Townes-Brocks Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Townes-Brocks Syndrome:



Diseases related to townes-brocks syndrome

Symptoms for Townes-Brocks Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

107480

Clinical features from OMIM:

107480

Symptoms:

49 (show all 60)
  • tetralogy of fallot/trilogy of fallot
  • cardiac septal defect
  • atrial septal defect/interauricular communication
  • patent ductus arteriosus
  • ectopic/horseshoe/fused kidneys
  • congenital cardiac anomaly/malformation/cardiopathy
  • pulmonary valve atresia/stenosis/narrowing
  • encopresis/fecal incontinence
  • broad/bifid big toe
  • syndactyly of toes
  • oligodactyly/ectrodactyly of toes
  • lower limb asymmetry/hemiatrophy/hemihypertrophy
  • urethral anomalies/stenosis/posterior urethral valves/megalocystis
  • vesicorenal/vesicoureteral reflux
  • uterine/uterus/fallopian tubes anomalies
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • short stature/dwarfism/nanism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • cranial nerves palsy
  • corpus callosum/septum pellucidum total/partial agenesis
  • arnold-chiari anomaly
  • late puberty/hypogonadism/hypogenitalism
  • hypothyroidy
  • bifid scrotum
  • hypospadias/epispadias/bent penis
  • micropenis/small penis/agenesis
  • vagina anomalies/atresia/hydrometrocolpos/hymen imperforation
  • broad/bifid thumb
  • ulnar deviation of fingers
  • anus ectopia/anteposition/malposition
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • flexion deformity of toes (excluding big toe)/hammer toe/camptodactyly of toes
  • flat foot
  • foot anomalies
  • clinodactyly of fifth finger
  • hearing loss/hypoacusia/deafness
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • autosomal dominant inheritance
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • anus/rectum anomalies
  • fingerlike/triphalangeal thumb
  • preaxial polydactyly (hand)
  • preauricular/branchial tags/appendages
  • constipation
  • renal failure
  • anomalies of spine, vertebrae and pelvis
  • anomalies of the ribs
  • tragus abnormal/absent
  • macrostomia/big mouth
  • blepharophimosis/short palpebral fissures
  • strabismus/squint
  • visual loss/blindness/amblyopia
  • retinoschisis/retinal/chorioretinal coloboma
  • cataract/lens opacification
  • conjunctival tumor/epibulbar dermoid
  • coloboma of iris
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • external ear anomalies

Drugs & Therapeutics for Townes-Brocks Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Genetic Tests for Townes-Brocks Syndrome

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20GeneTests
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Genetic tests related to Townes-Brocks Syndrome:

id Genetic test Affiliating Genes
1 Townes-Brocks Syndrome20 SALL1

Anatomical Context for Townes-Brocks Syndrome

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33MalaCards
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MalaCards organs/tissues related to Townes-Brocks Syndrome:

33
Testes, Kidney, Uterus, Bone

Animal Models for Townes-Brocks Syndrome or affiliated genes

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37MGI
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Publications for Townes-Brocks Syndrome

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52PubMed
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Articles related to Townes-Brocks Syndrome:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Endocrine abnormalities in Townes-Brocks syndrome. (23894113)
2013
2
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome. (23716951)
2012
3
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. (22308078)
2012
4
Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome. (22228756)
2012
5
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. (21253317)
2010
6
Phenotypic variability in a family with Townes-Brocks syndrome. (20520617)
2010
7
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. (19737635)
2009
8
Townes-Brocks syndrome--airway management conditions improve with age: report of follow up of a single case. (19236659)
2009
9
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. (19204018)
2009
10
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. (19291771)
2009
11
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. (20003547)
2009
12
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. (18470945)
2008
13
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. (18813423)
2008
14
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). (19005989)
2008
15
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. (18280297)
2008
16
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? (17910067)
2007
17
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
18
Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome? (17668723)
2007
19
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. (17221874)
2007
20
Townes-Brocks syndrome with hypothyroidism. (17351307)
2007
21
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
22
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. (16892410)
2006
23
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. (16470706)
2006
24
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. (16088922)
2005
25
Townes-Brocks syndrome. (15297694)
2004
26
Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. (15158448)
2004
27
Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes. (12925729)
2003
28
Somatic mosaicism and variable expression of Townes-Brocks syndrome. (12210359)
2002
29
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
30
SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. (11751684)
2001
31
Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome. (11404093)
2001
32
Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects. (11484202)
2001
33
SALL1 mutations in Townes-Brocks syndrome and related disorders. (11102974)
2000
34
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. (10819639)
2000
35
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. (9973281)
1999
36
Townes-Brocks syndrome. (10051003)
1999
37
Two cases of Townes-Brocks syndrome. (10631923)
1999
38
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. (9425907)
1998
39
Two cases of Townes-Brocks syndrome with previously undescribed anomalies. (9823498)
1998
40
Townes-Brocks syndrome presenting as end stage renal failure. (9072124)
1997
41
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. (8669439)
1996
42
Townes-Brocks syndrome associated with mental retardation. (8669452)
1996
43
Hearing loss in Townes-Brocks syndrome. (8084622)
1994
44
Townes-Brocks syndrome in an infant with translocation t (5;16). (8357560)
1993
45
Townes-Brocks Syndrome (20301618)
1993
46
Townes-Brocks syndrome in two mentally retarded youngsters. (1951448)
1991
47
Townes-Brocks syndrome. (2279502)
1990
48
The Townes-Brocks syndrome. (2395165)
1990
49
A new family with the Townes-Brocks syndrome. (3180506)
1988
50
Phenotypic variability in Townes-Brocks syndrome. (6741990)
1984

Variations for Townes-Brocks Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Townes-Brocks Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1SALL1SALL1, 1-BP DEL, 1268CdeletionPathogenic/card/townes_brocks_syndrome
2SALL1NM_002968.2(SALL1): c.1115C> A (p.Ser372Ter)single nucleotide variantPathogenicrs104894535GRCh37Chr 16, 51175018: 51175018
3SALL1NM_002968.2(SALL1): c.826C> T (p.Arg276Ter)single nucleotide variantPathogenicrs104894537GRCh37Chr 16, 51175307: 51175307
4SALL1NM_002968.2(SALL1): c.1115C> G (p.Ser372Ter)single nucleotide variantPathogenicrs104894535GRCh37Chr 16, 51175018: 51175018
5SALL1SALL1, 2-BP DEL, NT1277deletionPathogenic
6SALL1SALL1, 2-BP DEL, 1347CAdeletionPathogenic
7SALL1SALL1, 2-BP DEL, 792GCdeletionPathogenic
8SALL1NM_002968.2(SALL1): c.1256T> A (p.Leu419Ter)single nucleotide variantPathogenicrs137853084GRCh37Chr 16, 51174877: 51174877
9SALL1SALL1, 1-BP DEL, 995CdeletionPathogenic
10SALL1SALL1, 2-BP DEL, 3414ATdeletionPathogenic

Expression for genes affiliated with Townes-Brocks Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Townes-Brocks Syndrome

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

Pathways for genes affiliated with Townes-Brocks Syndrome

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50PathCards, 38NCBI BioSystems Database, 54R&D Systems, 30KEGG
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Pathways related to Townes-Brocks Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Wnt Signaling Pathway NetPath38
9.4CTNNB1, SALL1
29.3CTNNB1, LMO7

Compounds for genes affiliated with Townes-Brocks Syndrome

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45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Townes-Brocks Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arsenite45 2410.0CTNNB1, TERF1
2adpribose458.9CTNNB1, TERF1
3nocodazole45 119.7CTNNB1, TERF1

GO Terms for genes affiliated with Townes-Brocks Syndrome

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16Gene Ontology
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Cellular components related to Townes-Brocks Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.5EYA1, LMO7, SALL1, CTNNB1, TERF1
2cytoplasmGO:0057377.2CTNNB1, SALL1, LMO7, EYA1, TERF1

Biological processes related to Townes-Brocks Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:0424739.6EYA1, SALL1
2mesenchymal to epithelial transition involved in metanephros morphogenesisGO:0033379.5SALL1, CTNNB1
3embryonic digit morphogenesisGO:0427339.5CTNNB1, SALL1
4branching involved in ureteric bud morphogenesisGO:0016589.1CTNNB1, SALL1, EYA1
5positive regulation of apoptotic processGO:0430658.9CTNNB1, TERF1
6positive regulation of transcription from RNA polymerase II promoterGO:0459448.9EYA1, SALL1, CTNNB1
7transcription, DNA-templatedGO:0063518.9CTNNB1, SALL1, EYA1
8response to drugGO:0424938.7CTNNB1, TERF1

Molecular functions related to Townes-Brocks Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:0036828.6CTNNB1, SALL1, TERF1

Products for genes affiliated with Townes-Brocks Syndrome

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Sources for Townes-Brocks Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet