Waardenburg syndrome type 2A
MONDO:0008671Mondo
Findings
No curated finding names Waardenburg syndrome type 2A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Waardenburg syndrome Type 2 caused by mutations in the MITF gene.
Definition from the Mondo Disease Ontology (MONDO:0008671), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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.
- Premature graying of hairHPOHP:0002216
- 8 of 8 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 12 of 14 reported patients · Congenital onset
- Numerous pigmented frecklesHPOHP:0007587
- 5 of 6 reported patients
- White forelockHPOHP:0002211
- 3 of 8 reported patients
- Heterochromia iridisHPOHP:0001100
- 4 of 14 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 · Ambry Genetics · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: Waardenburg syndrome type 2A
- Also called
- MITF Waardenburg syndrome type 2Waardenburg syndrome type 2 caused by mutation in MITFWaardenburg syndrome type IIAWS2A