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
Publications
1,636
Trials
0
Interventional, condition-specific
Researchers
987
Distinct authors in sample
Gene link
ANKH
Definitive
Readiness
3/6
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.”
3/6 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
1,636 matched papers (929 in last 10 years) Source
- Phenotype characterisedPresent
20 HPO annotations (e.g. Polyarticular chondrocalcinosis; Arthropathy; Osteoarthritis) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
20
Associated phenotypes · MONDO:0007319
- Polyarticular chondrocalcinosis
- Arthropathy
- Osteoarthritis
- Joint swelling
- Arthralgia
Showing 5 of 20 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,636
1,636 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,636 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
929 in the last 10 years · low confidence
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (1)
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Familial calcium pyrophosphate deposition — check Associations / patient organisations on that page.
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") OR ("ANKH" OR "ANKH syndrome" OR "ANKH-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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
- Publication count (1636) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T17:17:15.119Z