chondrocalcinosis 2
Findings
No curated finding names chondrocalcinosis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).
Definition from the Mondo Disease Ontology (MONDO:0007319), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult 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.
- ArthropathyHPOHP:0003040
- 11 of 11 reported patients
- OsteoarthritisHPOHP:0002758
- 11 of 11 reported patients
- Frequent (30% to 79% of cases)
- Polyarticular chondrocalcinosisHPOHP:0005017
- 11 of 11 reported patients
- Abnormal intervertebral disk morphologyHPOHP:0005108
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- ArthritisHPOHP:0001369
- Very frequent (80% to 99% of cases)
Show the remaining 7
- Increased inflammatory responseHPOHP:0012649
- Occasional (5% to 29% of cases)
- Joint dislocationHPOHP:0001373
- Occasional (5% to 29% of cases)
- Joint stiffnessHPOHP:0001387
- Occasional (5% to 29% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Occasional (5% to 29% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Occasional (5% to 29% of cases)
- SynovitisHPOHP:0100769
- Occasional (5% to 29% of cases)
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.
- ANKHHGNC:15492
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
11 names
Resolves to: chondrocalcinosis 2
- Also called
- calcium pyrophosphate dihydrate crystal deposition diseasechondrocalcinosis type 2familial articular chondrocalcinosisfamilial calcium pyrophosphate depositionFamilial Calcium Pyrophosphate Deposition Diseasefamilial calcium pyrophosphate dihydrate deposition diseasefamilial CCfamilial CPPDhereditary articular chondrocalcinosishereditary calcium pyrophosphate depositionhereditary CC