Townes-Brocks Syndrome (TBS)

Townes-Brocks Syndrome(来自ICD-11)

别称:

Townes Syndrome

Renal-Ear-Anal-Radial Syndrome

Sensorineural Hearing Loss with Imperforate Anus and Hypoplastic Thumbs

Sensorineural Deafness with Imperforate Anus and Hypoplastic Thumbs

Imperforate Anus-Hand, Foot and Ear Anomalies Syndrome

Rear Syndrome

Tbs

Deafness, Sensorineural, with Imperforate Anus and Hypoplastic Thumbs

Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Imperforate Anus-Hand and Foot Anomalies Syndrome

Anal-Ear-Renal-Radial Malformation Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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), and among its related pathways/superpathways are 8p23.1 copy number variation syndrome and Genes controlling nephrogenesis. Affiliated tissues include kidney and bone, and related phenotypes are external ear malformation and anal atresia

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