| H00573 | |
| H number | H00573 |
| Name | Townes-Brocks syndrome |
| Description | Townes-Brocks syndrome (TBS) 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (TBS1) SALL1 [HSA:6299] [KO:K19871] (TBS2) DACT1 [HSA:51339] [KO:K22154] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C536974 OMIM: 107480 617466 |
| Reference | PMID:10051003 AUTHORS Powell CM, Michaelis RC TITLE Townes-Brocks syndrome. JOURNAL J Med Genet 36:89-93 (1999) DOI:10.1136/jmg.36.2.89 PMID:11478532 (SALL1) AUTHORS Keegan CE, Mulliken JB, Wu BL, Korf BR TITLE Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. JOURNAL Genet Med 3:310-3 (2001) DOI:10.1097/00125817-200107000-00007 PMID:28054444 (DACT1) AUTHORS Webb BD, Metikala S, Wheeler PG, Sherpa MD, Houten SM, Horb ME, Schadt EE TITLE Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome. JOURNAL Hum Mutat 38:373-377 (2017) DOI:10.1002/humu.23171 |