familial cylindromatosis
MONDO:0007565Mondo
Findings
No curated finding names familial cylindromatosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
2 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.
- Subcutaneous noduleHPOHP:0001482
- Very frequent (80% to 99% of cases)
- Telangiectasia of the skinHPOHP:0100585
- Very frequent (80% to 99% 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
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: familial cylindromatosis
- Also called
- Ancell-Spiegler syndrometurban tumorturban tumor syndrometurban tumourturban tumour syndrome