autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant
MONDO:0700338Mondo
Findings
No curated finding names autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant 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
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
27 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.
- AbscessHPOHP:0025615
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 1 reported patient
- EdemaHPOHP:0000969
- 1 of 1 reported patient
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 1 of 1 reported patient
- EndocarditisHPOHP:0100584
- 1 of 1 reported patient
- ErythemaHPOHP:0010783
- 2 of 2 reported patients
- Erythema nodosumHPOHP:0012219
- 1 of 1 reported patient
- FasciitisHPOHP:0100537
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 2 of 2 reported patients
- GranulomaHPOHP:0032252
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
Show the remaining 15
- HepatitisHPOHP:0012115
- 1 of 1 reported patient
- HypotensionHPOHP:0002615
- 1 of 1 reported patient
- Increased circulating interleukin 1beta concentrationHPOHP:6000374
- 1 of 1 reported patient
- Increased circulating interleukin 6 concentrationHPOHP:0030783
- 1 of 1 reported patient
- Increased total eosinophil countHPOHP:0001880
- 1 of 1 reported patient
- Increased total leukocyte countHPOHP:0001974
- 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.
- OTULINHGNC:25118
- Strong · PanelApp Australia · Autosomal dominant · 2025