autoinflammation with arthritis and dyskeratosis
MONDO:0060457Mondo
Findings
No curated finding names autoinflammation with arthritis and dyskeratosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
23 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.
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 3 of 3 reported patients
- Follicular hyperkeratosisHPOHP:0007502
- 3 of 3 reported patients
- Palmoplantar hyperkeratosisHPOHP:0000972
- 3 of 3 reported patients
- Polyarticular arthritisHPOHP:0005764
- 3 of 3 reported patients
- Recurrent feverHPOHP:0001954
- 3 of 3 reported patients
- Antinuclear antibody positivityHPOHP:0003493
- 2 of 3 reported patients
- Growth delayHPOHP:0001510
- 2 of 3 reported patients
- Autoimmune hemolytic anemiaHPOHP:0001890
- 1 of 3 reported patients
- Corneal neovascularizationHPOHP:0011496
- 1 of 3 reported patients
- Dry skinHPOHP:0000958
- 1 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 3 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 3 reported patients
Show the remaining 11
- Increased circulating IgA concentrationHPOHP:0003261
- 1 of 3 reported patients
- Increased circulating IgG concentrationHPOHP:0003237
- 1 of 3 reported patients
- Keratoconjunctivitis siccaHPOHP:0001097
- 1 of 3 reported patients
- Laryngeal papillomaHPOHP:0033001
- 1 of 3 reported patients
- PhotophobiaHPOHP:0000613
- 1 of 3 reported patients
- Punctate keratitisHPOHP:0011859
- 1 of 3 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.
- NLRP1HGNC:14374
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Semidominant · 2017
Where it sits
- A kind of