Details of Disease | DrugMAP

General Information of Disease (ID: DISDR57E)

Disease Name	Townes-Brocks syndrome
Synonyms	anus, imperforate, with hand, foot and ear anomalies; Townes-Brocks syndrome 1; deafness, sensorineural, with imperforate anus and thumb anomalies; anus, imperforate, with hand, foot, and Ear anomalies; TBS1; Townes-Brocks-branchiootorenal-like syndrome; deafness, sensorineural, with imperforate anus and hypoplastic thumbs; renal-Ear-anal-radial syndrome; Townes syndrome; Townes-Brocks syndrome; sensorineural deafness with imperforate anus and hypoplastic thumbs; TBS; imperforate anus with hand, foot and ear anomalies; rear syndrome; renal-ear-anal-radial syndrome
Definition	Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS3LICD: Congenital limb malformation DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DIS3HIWD: Autosomal dominant disease DISDR57E: Townes-Brocks syndrome
Disease Identifiers	MONDO ID MONDO_0007142 MESH ID C536974 UMLS CUI C0265246 MedGen ID 75555 Orphanet ID 857 SNOMED CT ID 24750000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DACT1	OT19Z704	Supportive	Autosomal dominant	[1]
SALL1	OTYYZGLH	Supportive	Autosomal dominant	[2]
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References

1	Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. Hum Mutat. 2017 Apr;38(4):373-377. doi: 10.1002/humu.23171. Epub 2017 Feb 2.
2	Townes-Brocks Syndrome. 2007 Jan 24 [updated 2016 Jan 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.