ORPHA:1416
Familial calcium pyrophosphate deposition
Also known as: Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC · Familial CPPD · Familial articular chondrocalcinosis · Hereditary CC · Hereditary articular chondrocalcinosis · Hereditary calcium pyrophosphate deposition
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
440
72.9th percentile
Trials
0
Interventional, condition-specific
Researchers
987
Distinct authors in sample
Gene link
ANKH
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007319
- MeSH:C563162
- OMIM:118600
- UMLS:C0856830
Additional Mondo synonyms (12)
Familial Calcium Pyrophosphate Deposition Disease · calcium pyrophosphate dihydrate crystal deposition disease · chondrocalcinosis 2 · chondrocalcinosis type 2 · familial CC · familial CPPD · familial articular chondrocalcinosis · familial calcium pyrophosphate deposition · familial calcium pyrophosphate dihydrate deposition disease · hereditary CC · hereditary articular chondrocalcinosis · hereditary calcium pyrophosphate deposition
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — ANKH
- LiteraturePresent
440 matched papers (143 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (ANKH).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
440
440 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
440 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
143 in the last 10 years · high confidence · 72.9th percentile (publications denominator)
Phrase hits: 440 · MeSH hits: 0
Who's working on it?
987
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Filippou G7 papers · 2024
Rheumatology Department, IRCCS Galeazzi, Sant'Ambrogio Hospital, Milan, Italy and Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.
Papers in Europe PMC - 02Rosenthal AK5 papers · 2026
The Division of Rheumatology, Department of Medicine, Medical College of Wisconsin and the Zablocki VA Medical Center, Milwaukee, WI, 53295-1000, USA.
Papers in Europe PMC - 03Williams CJ5 papers · 2021
Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA. charlene.williams@jefferson.edu
Papers in Europe PMC - 04
- 05Frediani B4 papers · 2016
Department of Clinical Medicine and Immunological Sciences, Section of Rheumatology, University of Siena, 53100 Siena, Italy.
Papers in Europe PMC - 06
- 07Masuda I4 papers · 2014Papers in Europe PMC
- 08Neogi T4 papers · 2025
Boston University School of Medicine, Boston, Massachusetts.
Papers in Europe PMC - 09Pascart T4 papers · 2025
Lille Catholic University, Saint-Philibert Hospital, Lille, France.
Papers in Europe PMC - 10Richette P4 papers · 2024
Université Paris Cité, INSERM, UMR-S 1132 BIOSCAR and Service de Rhumatologie, AP-HP, Lariboisière Hospital, Paris, France.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Familial calcium pyrophosphate deposition" OR "Calcium pyrophosphate dihydrate crystal deposition disease" OR "Familial CC" OR "Familial CPPD" OR "Familial articular chondrocalcinosis" OR "Hereditary CC" OR "Hereditary articular chondrocalcinosis" OR "Hereditary calcium pyrophosphate deposition" OR "Familial Calcium Pyrophosphate Deposition Disease" OR "chondrocalcinosis 2" OR "chondrocalcinosis type 2" OR "familial calcium pyrophosphate dihydrate deposition disease"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial calcium pyrophosphate deposition" OR "Calcium pyrophosphate dihydrate crystal deposition disease" OR "Familial CC" OR "Familial CPPD" OR "Familial articular chondrocalcinosis" OR "Hereditary CC" OR "Hereditary articular chondrocalcinosis" OR "Hereditary calcium pyrophosphate deposition" OR "Familial Calcium Pyrophosphate Deposition Disease" OR "chondrocalcinosis 2" OR "chondrocalcinosis type 2" OR "familial calcium pyrophosphate dihydrate deposition disease" OR "ANKH"
Recall-expansion terms: ANKH
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T17:17:15.119Z