Tietz syndrome
ICD-10: E70.3MeSH: C536919ORPHA: 42665
Overview
monogenic disease that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has material basis in mutation in the MITF gene on chromosome 3p13
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Tietz syndrome, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentAbnormal anterior chamber morphologyAbnormality of skin pigmentationHypopigmentation of the skinWhite eyebrowHypopigmentation of hair
Classification & Codes
ICD-10 Code
E70.3MeSH Code
C536919Orphanet Code
ORPHA:42665Tietz syndrome
| ICD-10 | E70.3 |
| MeSH | C536919 |
| Orphanet | ORPHA:42665 |
| Treatments | 0 drug(s) |
| Symptoms on record | 6 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO