corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
MONDO:0014089Mondo
Findings
No curated finding names corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis 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
- Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- Chronic rhinitisHPOHP:0002257
- 1 of 1 reported patient
- Corneal neovascularizationHPOHP:0011496
- 1 of 1 reported patient
- Finger joint hypermobilityHPOHP:0006094
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- Nail dystrophyHPOHP:0008404
- 1 of 1 reported patient
- Palmoplantar keratodermaHPOHP:0000982
- 1 of 1 reported patient
- Short neckHPOHP:0000470
- 1 of 1 reported patient
- Visual impairmentHPOHP:0000505
- 1 of 1 reported patient
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.
- NLRP1HGNC:14374
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Semidominant · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · G2P · Autosomal dominant · 2017
Where it sits
Other names
3 names
Resolves to: corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
- Also called
- MSPCpalmoplantar carcinoma, multiple self-healingpalmoplantar carcinoma, multiple self-healing; MSPC