familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
MONDO:0013806Mondo
Findings
No curated finding names familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 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.
- Facial telangiectasiaHPOHP:0007380
- 12 of 12 reported patients
- TelangiectasiaHPOHP:0001009
- 12 of 12 reported patients
- Sparse lateral eyebrowHPOHP:0005338
- 11 of 12 reported patients
- Carious teethHPOHP:0000670
- 7 of 12 reported patients
- Oropharyngeal squamous cell carcinomaHPOHP:0012182
- 10 of 23 reported patients · Adult onset
- Ridged nailHPOHP:0001807
- 4 of 12 reported patients
- Conical incisorHPOHP:0011065
- 2 of 12 reported patients
- Convex nasal ridgeHPOHP:0000444
- 4 of 24 reported patients
- Enamel hypoplasiaHPOHP:0006297
- 2 of 12 reported patients
- Actinic keratosisHPOHP:0025127
- 1 of 12 reported patients
- LivedoHPOHP:0033832
- 1 of 12 reported patients
- Nail dystrophyHPOHP:0008404
- 1 of 12 reported patients
Show the remaining 5
- OnycholysisHPOHP:0001806
- 1 of 12 reported patients
- Unusual fungal nail infectionHPOHP:0012203
- 1 of 12 reported patients
- Yellow nailsHPOHP:0011367
- 1 of 12 reported patients
- Breast carcinomaHPOHP:0003002
- 1 of 23 reported patients · Adult onset
- AlopeciaHPOHP:0001596
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.
- ATRHGNC:882
- Moderate · Genomics England PanelApp · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021