Tietz hypomelanosis – deafness syndrome (Q67305): Difference between revisions
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Síndrome hipomelanose de Tietz – surdez é uma condição autossômica dominante caracterizada por hipomelanose generalizada, olhos azuis e surdez neurossensorial profunda. Os membros da família afetados gradualmente ganham alguma pigmentação e têm pele clara e cabelos loiros a brancos quando adultos, com sobrancelhas e cílios brancos. A síndrome é devida a uma mutação de sentido incorreto na região básica do gene MITF. | |||
| description / en | description / en | ||
Tietz hypomelanosis - deafness syndrome is an autosomal dominant condition characterised by generalised hypomelanosis, blue eyes and profound sensorineural deafness. Affected family members gradually gain some pigmentation and have fair skin and blond to white hair as adults, with white eyebrows and eyelashes. The syndrome is due to a missense mutation in the basic region of the MITF gene. | |||
Revision as of 15:08, 14 August 2026
Tietz hypomelanosis - deafness syndrome is an autosomal dominant condition characterised by generalised hypomelanosis, blue eyes and profound sensorineural deafness. Affected family members gradually gain some pigmentation and have fair skin and blond to white hair as adults, with white eyebrows and eyelashes. The syndrome is due to a missense mutation in the basic region of the MITF gene.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1688980852 |
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| English | Tietz hypomelanosis – deafness syndrome |
Tietz hypomelanosis - deafness syndrome is an autosomal dominant condition characterised by generalised hypomelanosis, blue eyes and profound sensorineural deafness. Affected family members gradually gain some pigmentation and have fair skin and blond to white hair as adults, with white eyebrows and eyelashes. The syndrome is due to a missense mutation in the basic region of the MITF gene. |
