Crystal arthropathy
disease diseaseOn this page
Also known as Arthritides, CrystalArthritides, CrystallineArthritis, CrystalArthritis, CrystallineArthropathies, CrystalArthropathies, CrystallineArthropathy, CrystalArthropathy, CrystallineCrystal ArthritidesCrystal ArthritisCrystal ArthropathiesCrystal-induced arthritis AND/OR synovitisCrystal-related arthropathy and periarthropathyCrystalline ArthritidesCrystalline ArthritisCrystalline ArthropathiesCrystalline Arthropathy
Summary
Crystal arthropathy (MONDO:0022208) is a disease with 8 GWAS associations across 11 studies and 4 clinical trials. A subtype of arthropathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 8
- Clinical trials: 4
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | crystal arthropathy |
| Mondo ID | MONDO:0022208 |
| SNOMED CT | 18834007 |
| UMLS | C0152087 |
| MedGen | 508879 |
| Is cancer (heuristic) | no |
Also known as: Arthritides, Crystal · Arthritides, Crystalline · Arthritis, Crystal · Arthritis, Crystalline · Arthropathies, Crystal · Arthropathies, Crystalline · Arthropathy, Crystal · Arthropathy, Crystalline · Crystal Arthritides · Crystal Arthritis · Crystal Arthropathies · crystal arthropathy · Crystal-induced arthritis AND/OR synovitis · Crystal-related arthropathy and periarthropathy · Crystalline Arthritides · Crystalline Arthritis · Crystalline arthritis · Crystalline Arthropathies · Crystalline Arthropathy
Data availability: 8 GWAS associations (11 studies).
Disease family
This is a subtype of arthropathy. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › arthropathy › crystal arthropathy
Related subtypes (23): transient arthropathy, synovial plica syndrome, hypermobility syndrome, Tietze syndrome, neurogenic arthropathy, Behcet syndrome arthropathy, ankylosis, bursitis, synovium neoplasm, hydrarthrosis, articular cartilage disorder, hemarthrosis, tenosynovitis, ganglion or cyst of synovium/tendon/bursa, spondyloarthropathy, temporomandibular joint disorder, arthritic joint disease, de Quervain disease, frozen shoulder, patellofemoral pain syndrome, secondary hypertrophic osteoarthropathy, shoulder impingement syndrome, vertebral joint disorder
Genetics & variants
GWAS landscape
8 GWAS associations across 11 studies. Top hits map to 6 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs4148155 | 4e-192 | ABCG2 | ? | |
| rs9396861 | 4e-39 | RNF144B | C | 0.32 |
| rs141471965 | 5e-28 | ABCG2 | ? | 1.53 |
| rs766592 | 2e-17 | ENPP1 | A | 0.24 |
| rs943003 | 4e-17 | ENPP1, SELENOKP2 | C | 0.21 |
| rs561580201 | 3e-11 | TTC7B | G | 1.84 |
| rs2205936 | 3e-11 | SCGN | ? | 1.18 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90651123 | Liu TY | 2025 | 9,192 | 225,340 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90435759 | Zhou W | 2018 | 3,763 | 405,198 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90475739 | Verma A | 2024 | 3,066 | 444,490 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90474008 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 1,240 | 457,200 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90477389 | Verma A | 2024 | 700 | 120,306 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479933 | Verma A | 2024 | 700 | 120,306 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90435762 | Zhou W | 2018 | 616 | 405,198 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90080397 | Backman JD | 2021 | 581 | 387,116 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084383 | Backman JD | 2021 | 581 | 387,116 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90481628 | Verma A | 2024 | 369 | 59,097 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 7 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 6 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 1 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 6 |
| non_coding_transcript_exon_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs4148155 | 4 | 88133515 | A>C,G,T | 0.05 | intron_variant | ABCG2 | 4e-192 | Tier 4: intronic/intergenic |
| rs9396861 | 6 | 18403902 | C>A,G,T | 0.457 | intron_variant | RNF144B | 4e-39 | Tier 4: intronic/intergenic |
| rs141471965 | 4 | 88125050 | C>A,T | 0.05 | intron_variant | ABCG2 | 5e-28 | Tier 4: intronic/intergenic |
| rs766592 | 6 | 131810461 | A>C,G,T | 0.398 | intron_variant | ENPP1 | 2e-17 | Tier 4: intronic/intergenic |
| rs943003 | 6 | 131819872 | C>A,T | 0.384 | non_coding_transcript_exon_variant | ENPP1, SELENOKP2 | 4e-17 | Tier 4: intronic/intergenic |
| rs561580201 | 14 | 90714754 | G>A | 0.001 | intron_variant | TTC7B | 3e-11 | Tier 4: intronic/intergenic |
| rs2205936 | 6 | 25685264 | G>A,C,T | 0.05 | intron_variant | SCGN | 3e-11 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 4.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 4 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05657847 | Not specified | RECRUITING | Novel Complex Radiodiagnostics of Peripherial Arthropathies |
| NCT07329556 | Not specified | NOT_YET_RECRUITING | Skin Autofluorescence Assessment of Advanced Glycation End Products in Rheumatic Diseases |
| NCT03345186 | Not specified | COMPLETED | A Nurse Led Patient Management Programme to Improve Outcomes in Gout |
| NCT04585113 | Not specified | COMPLETED | Diagnostic Accuracy of Dual-energy CT |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.