familial multiple trichoepithelioma
MONDO:0011114Mondo
Findings
No curated finding names familial multiple trichoepithelioma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
4 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.
- PapuleHPOHP:0200034
- Very frequent (80% to 99% of cases)
- Subcutaneous noduleHPOHP:0001482
- Very frequent (80% to 99% of cases)
- Telangiectasia of the skinHPOHP:0100585
- Frequent (30% to 79% of cases)
- Basal cell carcinomaHPOHP:0002671
- Occasional (5% to 29% of cases)
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.
- CYLDHGNC:2584
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of