Autoimmune disorder of musculoskeletal system

Summary

Autoimmune disorder of musculoskeletal system (MONDO:0000589) is a disease with 14 GWAS associations across 5 studies. A subtype of musculoskeletal system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 14

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	autoimmune disorder of musculoskeletal system
Mondo ID	MONDO:0000589
DOID	DOID:0060032
Anatomy (UBERON)	UBERON:0002204
Is cancer (heuristic)	no

Also known as: musculoskeletal system autoimmune disease · musculoskeletal system hypersensitivity reaction type II disease

Data availability: 14 GWAS associations (5 studies).

Disease family

This is a subtype of musculoskeletal system 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 › autoimmune disorder of musculoskeletal system

Related subtypes (21): musculoskeletal system benign neoplasm, musculoskeletal system cancer, Klippel-Feil syndrome, enthesopathy, muscle tissue disorder, fasciitis, skeletal system disorder, synovial chondromatosis, auriculoosteodysplasia, hypertrophic osteoarthropathy, primary, autosomal dominant, Upington disease, Ramon syndrome, osteoporosis-oculocutaneous hypopigmentation syndrome, short stature, Brussels type, wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia, CINCA syndrome, chondrodysplasia with joint dislocations, gPAPP type, ligament disorder, synovium disorder, disease of the tendon, Short stature, Dauber-Argente type

Subtypes (3): rheumatoid arthritis, neonatal dermatomyositis, autoimmune cardiomyopathy

Genetics & variants

GWAS landscape

14 GWAS associations across 5 studies. Top hits map to 8 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs34572943	8e-36	ITGAM	G	0.48
rs9271593	1e-22	HLA-DRB1 - HLA-DQA1	C	0.3
rs17424602	7e-19	TNPO3	A	0.4
chr7:128585616	2e-14		C	0.42
rs17849501	7e-13	SMG7, NCF2	C	0.47
rs145931332	7e-12	LGSN - EEF1B2P5	C	3.29
rs4274624	1e-11	STAT4	C	0.23
rs543128317	1e-11	NF1	C	3.38
rs567986627	3e-11	ATP2C1	C	2.53
rs571080346	3e-11	TBCEL-TECTA	G	4.51
chr1:183532580	4e-11		G	0.49

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476180	Verma A	2024	1,379	449,451	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476179	Verma A	2024	992	120,706	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480454	Verma A	2024	992	120,706	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436599	Zhou W	2018	418	401,365	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90476536	Verma A	2024	265	59,577	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	1
Tier 4: intronic/intergenic	10

MAF distribution

Bucket	Variants
common (>=0.05)	6
low_freq (0.01-0.05)	1
rare (<0.01)	4
unknown	0

Functional consequences

Consequence	Count
intron_variant	7
unknown	2
regulatory_region_variant	1
synonymous_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs34572943	16	31261032	G>A	0.111	intron_variant	ITGAM	8e-36	Tier 4: intronic/intergenic
rs9271593	6	32623421	C>A,T	0.44	regulatory_region_variant	HLA-DRB1 - HLA-DQA1	1e-22	Tier 3: regulatory
rs17424602	7	129047886	A>G	0.099	intron_variant	TNPO3	7e-19	Tier 4: intronic/intergenic
chr7:128585616				0.11			2e-14	Tier 4: intronic/intergenic
rs17849501	1	183573188	C>T	0.042	synonymous_variant	SMG7, NCF2	7e-13	Tier 4: intronic/intergenic
rs145931332	6	63454949	C>A,T	0	intron_variant	LGSN - EEF1B2P5	7e-12	Tier 4: intronic/intergenic
rs4274624	2	191093930	C>A,G,T	0.218	intron_variant	STAT4	1e-11	Tier 4: intronic/intergenic
rs543128317	17	31125509	C>A	0.001	intron_variant	NF1	1e-11	Tier 4: intronic/intergenic
rs567986627	3	130936639	C>T	0.001	intron_variant	ATP2C1	3e-11	Tier 4: intronic/intergenic
rs571080346	11	121098565	G>A	0	intron_variant	TBCEL-TECTA	3e-11	Tier 4: intronic/intergenic
chr1:183532580				0.051			4e-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: 0.