Chondromalacia

Summary

Chondromalacia (MONDO:0002342) is a disease with 9 GWAS associations across 5 studies and 5 clinical trials. Top therapeutic interventions include sodium chloride. A subtype of articular cartilage disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 9
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	chondromalacia
Mondo ID	MONDO:0002342
DOID	DOID:2557
ICD-10-CM	M94.2
ICD-11	547071520
SNOMED CT	63198006
UMLS	C0085700
MedGen	39328
Is cancer (heuristic)	no

Data availability: 9 GWAS associations (5 studies).

Disease family

This is a subtype of articular cartilage disorder. 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 › chondromalacia

Subtypes (2): chondromalacia patellae, relapsing polychondritis

Genetics & variants

GWAS landscape

9 GWAS associations across 5 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs567366010	3e-12	ZFPM1	G	3.65
rs180849988	1e-11	RPL6P25 - SLC6A15	G	3.6
rs568874169	1e-11	ADCK1	A	4.07
rs191985391	2e-11	DLGAP1	G	2.53
rs558016405	3e-11	SULT1E1 - CSN1S1	T	3.14
rs180974694	3e-11	TRAV25 - TRAV26-1	G	2.6
rs182829296	4e-11	RNU6-983P - LINC01724	T	2.43
rs144449054	2e-10	ARHGAP15	A	3.27
rs188900564	3e-08	RNA5SP516 - SPANXN4	G	1.95

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90137415	Kim SK	2022	3,872	518,212	A Genome-Wide Association Study Reveals Two Genetic Markers for Chondromalacia.
GCST90478976	Verma A	2024	814	448,129	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480531	Verma A	2024	381	120,552	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482419	Verma A	2024	381	120,552	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436705	Zhou W	2018	121	391,041	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

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	9

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	9
unknown	0

Functional consequences

Consequence	Count
intron_variant	7
intergenic_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs567366010	16	88486715	G>C,T	0.001	intron_variant	ZFPM1	3e-12	Tier 4: intronic/intergenic
rs180849988	12	84098420	G>A,T	0	intron_variant	RPL6P25 - SLC6A15	1e-11	Tier 4: intronic/intergenic
rs568874169	14	77916065	A>G	0.001	intron_variant	ADCK1	1e-11	Tier 4: intronic/intergenic
rs191985391	18	4434253	G>T	0.001	intron_variant	DLGAP1	2e-11	Tier 4: intronic/intergenic
rs558016405	4	69875170	T>C	0.001	intergenic_variant	SULT1E1 - CSN1S1	3e-11	Tier 4: intronic/intergenic
rs180974694	14	22116078	G>A	0.001	intergenic_variant	TRAV25 - TRAV26-1	3e-11	Tier 4: intronic/intergenic
rs182829296	1	194861397	T>A	0.003	intron_variant	RNU6-983P - LINC01724	4e-11	Tier 4: intronic/intergenic
rs144449054	2	143132365	G>A	0.002	intron_variant	ARHGAP15	2e-10	Tier 4: intronic/intergenic
rs188900564	X	142509138	A>G	0.002	intron_variant	RNA5SP516 - SPANXN4	3e-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: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE4	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02539095	PHASE4	COMPLETED	Efficacy of Intra-articular Collagen Injection in Patients With Knee Joint Pain Compared to Normal Saline Injection
NCT06561568	Not specified	ACTIVE_NOT_RECRUITING	Additional Effects of Kinesio Taping on Knee Joint Proprioception and Spatiotemporal Gait Parameters in Patient With Chrondromalacia Patellae
NCT01527201	Not specified	COMPLETED	The ChAMP (Chondral Lesions And Meniscus Procedures) Trial
NCT02606942	Not specified	UNKNOWN	Prevalence of Chondromalacia Patella Among Adolescent Dancers - Correlation Between Symptoms and Sonography Findings
NCT06980883	Not specified	COMPLETED	Assessing Impact of Myofascial Release Versus Dry Needling for Chondromalacia in Adult Females

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
SODIUM CHLORIDE	4	1