Townes-Brocks Syndrome (TBS)

Alias:

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

Related ID：

MALACARDS：TWN003

MESH：C536974