TBS
MCID: TWN003
MIFTS: 55
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Townes-Brocks Syndrome (TBS)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
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MalaCards integrated aliases for Townes-Brocks Syndrome:
Characteristics:Orphanet epidemiological data:58
townes-brocks syndrome
Inheritance: Autosomal dominant; Age of onset: All ages; Age of death: any age; GeneReviews:24
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
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
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, heart and eye, 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. Genetics Home Reference : 25 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 : 74 Townes-Brocks syndrome (TBS) is a rare genetic disease that has been described in approximately 200... more...
GeneReviews:
NBK1445
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Human phenotypes related to Townes-Brocks Syndrome:58 31 (show top 50) (show all 67)
MGI Mouse Phenotypes related to Townes-Brocks Syndrome:45 (show all 17)
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Genetic tests related to Townes-Brocks Syndrome:
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MalaCards organs/tissues related to Townes-Brocks Syndrome:40
Kidney,
Heart,
Eye,
Bone,
Skin,
Uterus,
Brain
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Articles related to Townes-Brocks Syndrome:(show top 50) (show all 136)
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ClinVar genetic disease variations for Townes-Brocks Syndrome:6 (show all 41)
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Search
GEO
for disease gene expression data for Townes-Brocks Syndrome.
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Cellular components related to Townes-Brocks Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Townes-Brocks Syndrome according to GeneCards Suite gene sharing:(show all 47)
Molecular functions related to Townes-Brocks Syndrome according to GeneCards Suite gene sharing:
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