CINCA syndrome
Findings
No curated finding names CINCA syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterized by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.
Definition from the Mondo Disease Ontology (MONDO:0011776), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
54 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.
- AnemiaHPOHP:0001903
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- HepatosplenomegalyHPOHP:0001433
- 6 of 6 reported patients
- Increased total leukocyte countHPOHP:0001974
- 6 of 6 reported patients
- Frequent (30% to 79% of cases)
- LymphadenopathyHPOHP:0002716
Show the remaining 42
- Abnormality of neutrophilsHPOHP:0001874
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- FeverHPOHP:0001945
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- 2 of 6 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.
- NLRP3HGNC:16400
- Definitive · G2P · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
10 names
Resolves to: CINCA syndrome
- Also called
- chronic infantile neurological cutaneous and articular syndromechronic neurologic cutaneous and articular syndromeCINCA/NOMIDcryopyrin-associated periodic syndrome 3infantile-onset multisystem inflammatory diseaseIOMID syndromeNeonatal-Onset Multisystem Inflammatory DiseaseNOMIDNOMID syndromePrieur-Griscelli syndrome