TBS
MCID: TWN003
MIFTS: 53

Townes-Brocks Syndrome (TBS) malady

Nephrological, Ear, Bone, Fetal categories

Summaries for Townes-Brocks Syndrome

Sources:
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 microphthalmia and goldenhar syndrome, and has symptoms including external ear anomalies, preauricular/branchial tags/appendages and preaxial polydactyly (hand). An important gene associated with Townes-Brocks Syndrome is SALL1 (sal-like 1 (Drosophila)), and among its related pathways is 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 kidney, and related mouse phenotypes are hearing/vestibular/ear and pigmentation.

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

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Nephrological, Ear, Bone


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 61
gilles de la tourette syndrome 19 61
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
tourette syndrome 19
maladie de tics 19


External Ids:

OMIM47 107480
MESH via Orphanet36 C536974
ICD10 via Orphanet26 Q87.8

Related Diseases for Townes-Brocks Syndrome

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



Diseases related to townes-brocks syndrome

Clinical Features for Townes-Brocks Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

107480

Clinical synopsis from OMIM:

107480

Symptoms:

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

Drugs & Therapeutics for Townes-Brocks Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Townes-Brocks Syndrome

Drug clinical trials:

Search ClinicalTrials for Townes-Brocks Syndrome

Search NIH Clinical Center for Townes-Brocks Syndrome

Search CenterWatch for Townes-Brocks Syndrome

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Townes-Brocks Syndrome

Sources:
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

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

33
Kidney

Animal Models for Townes-Brocks Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Townes-Brocks Syndrome

Sources:
51PubMed
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Articles related to Townes-Brocks Syndrome:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
Endocrine abnormalities in Townes-Brocks syndrome. (23894113)
2013
2
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. (22308078)
2012
3
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. (21253317)
2010
4
Phenotypic variability in a family with Townes-Brocks syndrome. (20520617)
2010
5
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. (19737635)
2009
6
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. (19204018)
2009
7
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. (19291771)
2009
8
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. (20003547)
2009
9
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. (18470945)
2008
10
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. (18813423)
2008
11
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). (19005989)
2008
12
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? (17910067)
2007
13
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
14
Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome? (17668723)
2007
15
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. (17221874)
2007
16
Townes-Brocks syndrome with hypothyroidism. (17351307)
2007
17
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
18
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect. (16892410)
2006
19
Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. (16470706)
2006
20
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. (16088922)
2005
21
Townes-Brocks syndrome. (15297694)
2004
22
Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin. (15158448)
2004
23
Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes. (12925729)
2003
24
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
25
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. (14627694)
2003
26
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. (12915476)
2003
27
Somatic mosaicism and variable expression of Townes-Brocks syndrome. (12210359)
2002
28
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
29
SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. (11751684)
2001
30
Embryonic expression of the murine homologue of SALL1, the gene mutated in Townes--Brocks syndrome. (11404093)
2001
31
SALL1 mutations in Townes-Brocks syndrome and related disorders. (11102974)
2000
32
Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome. (10819639)
2000
33
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. (10654325)
2000
34
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. (9973281)
1999
35
Townes-Brocks syndrome. (10051003)
1999
36
Two cases of Townes-Brocks syndrome. (10631923)
1999
37
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. (10533063)
1999
38
Townes-Brocks and Pendred syndrome in the same patient. (9600745)
1998
39
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. (9425907)
1998
40
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. (8669439)
1996
41
Townes-Brocks syndrome associated with mental retardation. (8669452)
1996
42
Hearing loss in Townes-Brocks syndrome. (8084622)
1994
43
Townes-Brocks syndrome in an infant with translocation t (5;16). (8357560)
1993
44
Townes-Brocks Syndrome (20301618)
1993
45
Townes-Brocks syndrome in two mentally retarded youngsters. (1951448)
1991
46
Townes-Brocks syndrome. (2279502)
1990
47
The Townes-Brocks syndrome. (2395165)
1990
48
Townes-Brocks syndrome. Report of a case and review of the literature. (2667456)
1989
49
A new family with the Townes-Brocks syndrome. (3180506)
1988
50
Phenotypic variability in Townes-Brocks syndrome. (6741990)
1984

Genetic Variations for Townes-Brocks Syndrome

Expression for genes affiliated with Townes-Brocks Syndrome

Sources:
1BioGPS, 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

Sources:
30KEGG
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Pathways related to Townes-Brocks Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3LMO7, CTNNB1

Compounds for genes affiliated with Townes-Brocks Syndrome

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

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

GO Terms for genes affiliated with Townes-Brocks Syndrome

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

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

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

idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:0424739.5EYA1, SALL1
2mesenchymal to epithelial transition involved in metanephros morphogenesisGO:0033379.3SALL1, CTNNB1
3embryonic digit morphogenesisGO:0427339.1CTNNB1, SALL1
4branching involved in ureteric bud morphogenesisGO:0016588.9CTNNB1, SALL1, EYA1
5positive regulation of transcription from RNA polymerase II promoterGO:0459448.9CTNNB1, SALL1, EYA1

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

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

Products for genes affiliated with Townes-Brocks Syndrome

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Sources for Townes-Brocks Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet