TBS
MCID: TWN003
MIFTS: 54

Townes-Brocks Syndrome (TBS) malady

Nephrological diseases, Ear diseases, Bone diseases, Fetal diseases categories

Summaries for Townes-Brocks Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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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: Townes-Brocks Syndrome, also known as renal-ear-anal-radial syndrome, is related to microphthalmia and goldenhar syndrome, 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 (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 testes, uterus and 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:46 107480

GeneReviews summary for tbs

Aliases & Classifications for Townes-Brocks Syndrome

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60UMLS, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 20 21 46 44 48
renal-ear-anal-radial syndrome 42 21 48
townes syndrome 21 48 60
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
gilles de la tourette syndrome 60


External Ids:

OMIM46 107480
MESH via Orphanet35 C536974
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 24750000

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

Clinical Features for Townes-Brocks Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

107480

Clinical synopsis from OMIM:

107480

Symptoms:

48 (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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

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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32MalaCards
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MalaCards organs/tissues related to Townes-Brocks Syndrome:

32
Testes, Uterus, Kidney, Bone

Animal Models for Townes-Brocks Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Townes-Brocks Syndrome:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0EYA1, SALL1, CTNNB1
2MP:00011868.7TERF1, LMO7, CTNNB1
3MP:00020068.6TERF1, LMO7, CTNNB1
4MP:00053678.6CTNNB1, SALL1, EYA1
5MP:00053828.5TERF1, CTNNB1, EYA1
6MP:00053868.4EYA1, SALL1, CTNNB1, LMO7
7MP:00053818.3TERF1, CTNNB1, SALL1, EYA1
8MP:00053808.3EYA1, SALL1, CTNNB1, TERF1
9MP:00036318.3EYA1, SALL1, CTNNB1, LMO7
10MP:00028738.2TERF1, CTNNB1, SALL1, EYA1
11MP:00053848.1TERF1, CTNNB1, SALL1, EYA1
12MP:00107687.7EYA1, SALL1, CTNNB1, LMO7, TERF1

Publications for Townes-Brocks Syndrome

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Genetic Variations for Townes-Brocks Syndrome

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Expression for genes affiliated with Townes-Brocks Syndrome

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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

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29KEGG
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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

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44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Townes-Brocks Syndrome according to GeneCards/GeneDecks:

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

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:0056347.5SALL1, CTNNB1, LMO7, TERF1, EYA1
2cytoplasmGO:0057377.2TERF1, LMO7, CTNNB1, SALL1, EYA1

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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  • Antibodies
  • Proteins
  • Lysates
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet