Articular cartilage disorder

Summary

Articular cartilage disorder (MONDO:0003816) is a disease with 1 GWAS associations across 8 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: 1
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	articular cartilage disorder
Mondo ID	MONDO:0003816
DOID	DOID:6227
SNOMED CT	53417006
UMLS	C0158073
MedGen	510440
Anatomy (UBERON)	UBERON:0010996
Is cancer (heuristic)	no

Also known as: articular cartilage disorder · articular cartilage disorder involving ankle and foot · articular cartilage disorder involving forearm · articular cartilage disorder involving hand · articular cartilage disorder involving multiple sites · articular cartilage disorder involving pelvic region and thigh · articular cartilage disorder involving shoulder region · articular cartilage disorder involving upper arm · articular cartilage disorder of ankle and/or foot · articular cartilage disorder of forearm · articular cartilage disorder of hand · articular cartilage disorder of multiple sites · articular cartilage disorder of shoulder region · articular cartilage disorder of the pelvic region and thigh · articular cartilage disorder of upper arm · articular cartilage of joint disease · articular cartilage of joint disease or disorder · disease of articular cartilage of joint · disease or disorder of articular cartilage of joint · disorder of articular cartilage of joint

Data availability: 1 GWAS association (8 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 › articular cartilage disorder

Related subtypes (23): transient arthropathy, synovial plica syndrome, hypermobility syndrome, Tietze syndrome, neurogenic arthropathy, Behcet syndrome arthropathy, ankylosis, bursitis, synovium neoplasm, hydrarthrosis, 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, crystal arthropathy, vertebral joint disorder

Subtypes (1): chondromalacia

Genetics & variants

GWAS landscape

1 GWAS associations across 8 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs1490626752	1e-08	NA - FAM230C	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90080449	Backman JD	2021	1,157	386,756	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084435	Backman JD	2021	1,157	386,756	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90080448	Backman JD	2021	605	387,325	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084434	Backman JD	2021	605	387,325	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90436735	Zhou W	2018	500	402,633	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90044598	Jiang L	2021	484	455,864	A generalized linear mixed model association tool for biobank-scale data.
GCST90482437	Verma A	2024	419	448,990	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651502	Liu TY	2025	122	235,669	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

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	1

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs1490626752	13	16358301	G>A,C,T		intergenic_variant	NA - FAM230C	1e-08	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	3
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01400607	PHASE3	TERMINATED	Neocartilage Implant to Treat Cartilage Lesions of the Knee
NCT01410136	Not specified	TERMINATED	Chondrofix Osteochondral Allograft Prospective Study
NCT01690689	Not specified	COMPLETED	Investigation of a Customized Femoral Resurfacing Implant
NCT05424848	Not specified	COMPLETED	Femoral Cartilage Thickness in Parkinson’s Disease