TBS
MCID: TWN003
MIFTS: 59

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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NIH Rare Diseases:42 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 based summary: Townes-Brocks Syndrome, also known as renal-ear-anal-radial syndrome, is related to tuberculosis and multidrug-resistant tuberculosis, 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 (spalt-like transcription factor 1), and among its related pathways are Wnt Signaling Pathway and Adherens junction. The compounds arsenite and adpribose have been mentioned in the context of this disorder. Affiliated tissues include testes, kidney and bone, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Disease Ontology:8 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: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:46 107480

GeneReviews summary for tbs

Aliases & Classifications for Townes-Brocks Syndrome

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Sources:
8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Townes-Brocks Syndrome, Aliases & Descriptions:

Name: Townes-Brocks Syndrome 8 19 42 20 21 46 44 48
Renal-Ear-Anal-Radial Syndrome 42 21 48
Townes Syndrome 21 48 62
Rear Syndrome 42 48
Tbs 42 48
Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs 42
Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs 48
 
Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 21
Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome 21
Anus, Imperforate, with Hand, Foot and Ear Anomalies 42
Imperforate Anus with Hand, Foot and Ear Anomalies 48
Imperforate Anus-Hand and Foot Anomalies Syndrome 21
Anal-Ear-Renal-Radial Malformation Syndrome 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
townes-brocks syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age


External Ids:

Disease Ontology8 DOID:0050887
OMIM46 107480
MESH via Orphanet35 C536974
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0265246

Related Diseases for Townes-Brocks Syndrome

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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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Symptoms by clinical synopsis from OMIM:

107480

Clinical features from OMIM:

107480

Symptoms:

48 (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

HPO human phenotypes related to Townes-Brocks Syndrome:

(show all 92)
id Description Frequency HPO Source Accession
1 preauricular skin tag hallmark (90%) HP:0000384
2 preaxial hand polydactyly hallmark (90%) HP:0001177
3 triphalangeal thumb hallmark (90%) HP:0001199
4 external ear malformation hallmark (90%) HP:0008572
5 urogenital fistula hallmark (90%) HP:0100589
6 preauricular skin tag typical (50%) HP:0000384
7 sensorineural hearing impairment typical (50%) HP:0000407
8 triphalangeal thumb typical (50%) HP:0001199
9 clinodactyly of the 5th toe typical (50%) HP:0001864
10 preauricular pit typical (50%) HP:0004467
11 microtia typical (50%) HP:0008551
12 cryptorchidism typical (50%) HP:0000028
13 renal insufficiency typical (50%) HP:0000083
14 hearing impairment typical (50%) HP:0000365
15 pes planus typical (50%) HP:0001763
16 camptodactyly of toe typical (50%) HP:0001836
17 constipation typical (50%) HP:0002019
18 clinodactyly of the 5th finger typical (50%) HP:0004209
19 ectopic anus typical (50%) HP:0004397
20 anal atresia 46.9697% HP:0002023
21 multicystic kidney dysplasia occasional (7.5%) HP:0000003
22 vesicoureteral reflux occasional (7.5%) HP:0000076
23 renal insufficiency occasional (7.5%) HP:0000083
24 renal hypoplasia occasional (7.5%) HP:0000089
25 renal dysplasia occasional (7.5%) HP:0000110
26 2-4 finger syndactyly occasional (7.5%) HP:0010709
27 bifid scrotum occasional (7.5%) HP:0000048
28 vesicoureteral reflux occasional (7.5%) HP:0000076
29 abnormality of the vagina occasional (7.5%) HP:0000142
30 wide mouth occasional (7.5%) HP:0000154
31 facial asymmetry occasional (7.5%) HP:0000324
32 strabismus occasional (7.5%) HP:0000486
33 visual impairment occasional (7.5%) HP:0000505
34 cataract occasional (7.5%) HP:0000518
35 chorioretinal coloboma occasional (7.5%) HP:0000567
36 blepharophimosis occasional (7.5%) HP:0000581
37 iris coloboma occasional (7.5%) HP:0000612
38 abnormality of the ribs occasional (7.5%) HP:0000772
39 hypothyroidism occasional (7.5%) HP:0000821
40 epibulbar dermoid occasional (7.5%) HP:0001140
41 defect in the atrial septum occasional (7.5%) HP:0001631
42 tetralogy of fallot occasional (7.5%) HP:0001636
43 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
44 patent ductus arteriosus occasional (7.5%) HP:0001643
45 toe syndactyly occasional (7.5%) HP:0001770
46 split foot occasional (7.5%) HP:0001839
47 preaxial foot polydactyly occasional (7.5%) HP:0001841
48 arnold-chiari malformation occasional (7.5%) HP:0002308
49 bowel incontinence occasional (7.5%) HP:0002607
50 short stature occasional (7.5%) HP:0004322
51 cranial nerve paralysis occasional (7.5%) HP:0006824
52 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
53 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
54 hypoplasia of penis occasional (7.5%) HP:0008736
55 ulnar deviation of finger occasional (7.5%) HP:0009465
56 abnormality of the tragus occasional (7.5%) HP:0009912
57 abnormal localization of kidney occasional (7.5%) HP:0100542
58 cognitive impairment occasional (7.5%) HP:0100543
59 lower limb asymmetry occasional (7.5%) HP:0100559
60 displacement of the external urethral meatus occasional (7.5%) HP:0100627
61 duane anomaly rare (5%) HP:0009921
62 autosomal dominant inheritance HP:0000006
63 cryptorchidism HP:0000028
64 hypospadias HP:0000047
65 bifid scrotum HP:0000048
66 bifid uterus HP:0000136
67 rectovaginal fistula HP:0000143
68 microcephaly HP:0000252
69 macrotia HP:0000400
70 chorioretinal coloboma HP:0000567
71 hypothyroidism HP:0000821
72 preaxial hand polydactyly HP:0001177
73 intellectual disability HP:0001249
74 synostosis involving metatarsal bones HP:0001440
75 umbilical hernia HP:0001537
76 ventricular septal defect HP:0001629
77 tetralogy of fallot HP:0001636
78 gastroesophageal reflux HP:0002020
79 anal stenosis HP:0002025
80 duodenal atresia HP:0002247
81 overfolding of the superior helices HP:0004453
82 2-3 toe syndactyly HP:0004691
83 rectoperineal fistula HP:0004792
84 3-4 finger syndactyly HP:0006097
85 pseudoepiphyses of second metacarpal HP:0006179
86 3-4 toe syndactyly HP:0009779
87 partial duplication of thumb phalanx HP:0009944
88 aplasia/hypoplasia of the 3rd toe HP:0010331
89 urethral valve HP:0010481
90 short metatarsal HP:0010743
91 broad thumb HP:0011304
92 stahl ear HP:0100015

Drugs & Therapeutics for Townes-Brocks Syndrome

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Drug clinical trials:

Search ClinicalTrials for Townes-Brocks Syndrome

Search NIH Clinical Center for Townes-Brocks Syndrome

Genetic Tests for Townes-Brocks Syndrome

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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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MalaCards organs/tissues related to Townes-Brocks Syndrome:

32
Testes, Kidney, Bone, Uterus

Animal Models for Townes-Brocks Syndrome or affiliated genes

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Publications for Townes-Brocks Syndrome

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Articles related to Townes-Brocks Syndrome:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome. (25192472)
2014
2
Endocrine abnormalities in Townes-Brocks syndrome. (23894113)
2013
3
A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome. (23716951)
2012
4
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature. (22308078)
2012
5
Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome. (22228756)
2012
6
A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene. (21253317)
2010
7
Phenotypic variability in a family with Townes-Brocks syndrome. (20520617)
2010
8
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. (19737635)
2009
9
Townes-Brocks syndrome--airway management conditions improve with age: report of follow up of a single case. (19236659)
2009
10
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood. (19204018)
2009
11
Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly. (19291771)
2009
12
Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes. (20003547)
2009
13
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. (18470945)
2008
14
Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia. (18813423)
2008
15
The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome). (19005989)
2008
16
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature. (18280297)
2008
17
Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon? (17910067)
2007
18
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
19
Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome? (17668723)
2007
20
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. (17221874)
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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Clinvar genetic disease variations for Townes-Brocks Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1SALL1SALL1, 1-BP DEL, 1268CdeletionPathogenic
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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Expression patterns in normal tissues for genes affiliated with Townes-Brocks Syndrome

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Pathways for genes affiliated with Townes-Brocks Syndrome

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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 NetPath37
9.4CTNNB1, SALL1
29.3CTNNB1, LMO7

Compounds for genes affiliated with Townes-Brocks Syndrome

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Townes-Brocks Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1arsenite44 2410.0CTNNB1, TERF1
2adpribose448.9CTNNB1, TERF1
3nocodazole44 119.7CTNNB1, TERF1

GO Terms for genes affiliated with Townes-Brocks Syndrome

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet