juvenile arthritis due to defect in LACC1
MONDO:0032920Mondo
Findings
No curated finding names juvenile arthritis due to defect in LACC1 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
- Childhood onset
HPO, annotations 2026-09-02
Features
6 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.
- Increased total leukocyte countHPOHP:0001974
- 13 of 13 reported patients
- Periodic feverHPOHP:0032323
- 13 of 13 reported patients
- Quotidian feverHPOHP:0033087
- 13 of 13 reported patients
- ThrombocytosisHPOHP:0001894
- 13 of 13 reported patients
- Antinuclear antibody positivityHPOHP:0003493
- 8 of 13 reported patients
- Skin rashHPOHP:0000988
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.
- LACC1HGNC:26789
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of