Tietz syndrome
Findings
No curated finding names Tietz syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.
Definition from the Mondo Disease Ontology (MONDO:0007077), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Blue iridesHPOHP:0000635
- 11 of 11 reported patients
- Congenital sensorineural hearing impairmentHPOHP:0008527
- 11 of 11 reported patients
- Fundus hypopigmentationHPOHP:0007894
- 11 of 11 reported patients
- Generalized hypopigmentationHPOHP:0007513
- 11 of 11 reported patients
- White eyebrowHPOHP:0002226
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- White eyelashesHPOHP:0002227
- 11 of 11 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MITFHGNC:7105
- Definitive · G2P · Autosomal dominant · 2017
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: Tietz syndrome
- Also called
- albinism-deafness of Tietzhypopigmentation-deafness syndromehypopigmentation/deafness of TietzTietz albinism-deafness syndrome