autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive
MONDO:0014912Mondo
Findings
No curated finding names autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
19 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.
- ArthralgiaHPOHP:0002829
- 3 of 3 reported patients
- DiarrheaHPOHP:0002014
- 3 of 3 reported patients · Neonatal onset
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 3 of 3 reported patients · Neonatal onset
- Failure to thrive in infancyHPOHP:0001531
- 3 of 3 reported patients
- Increased circulating IgA concentrationHPOHP:0003261
- 3 of 3 reported patients
- Increased circulating IgM concentrationHPOHP:0003496
- 3 of 3 reported patients
- Increased total CD4+ T cell proportionHPOHP:0032219
- 2 of 2 reported patients
- Increased total leukocyte countHPOHP:0001974
- 3 of 3 reported patients · Neonatal onset
- Increased total neutrophil countHPOHP:0011897
- 3 of 3 reported patients · Neonatal onset
- Joint swellingHPOHP:0001386
- 3 of 3 reported patients
- LipodystrophyHPOHP:0009125
- 3 of 3 reported patients
- PanniculitisHPOHP:0012490
- 6 of 6 reported patients
Show the remaining 7
- Recurrent feverHPOHP:0001954
- 3 of 3 reported patients
- Skin rashHPOHP:0000988
- 3 of 3 reported patients
- LymphadenopathyHPOHP:0002716
- 2 of 3 reported patients
- MyalgiaHPOHP:0003326
- 2 of 3 reported patients
- Abdominal painHPOHP:0002027
- 1 of 3 reported patients
- Chronic diarrheaHPOHP:0002028
- 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.
- OTULINHGNC:25118
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive
- Also called
- AIPDSORASotulin deficiencyotulin-related autoinflammatory syndromeotulipenia