Tendon sheath disorder

Summary

Tendon sheath disorder (MONDO:0024876) is a disease with 1 GWAS associations across 2 studies. A subtype of disease of the tendon — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	tendon sheath disorder
Mondo ID	MONDO:0024876
SNOMED CT	312381009
UMLS	C0729734
MedGen	675994
Anatomy (UBERON)	UBERON:0000304
Is cancer (heuristic)	no

Also known as: disease of tendon sheath · disease or disorder of tendon sheath · disorder of tendon sheath · tendon sheath disease · tendon sheath disease or disorder · tendon sheath disorder

Data availability: 1 GWAS association (2 studies).

Disease family

This is a subtype of disease of the tendon. 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 › disease of the tendon › tendon sheath disorder

Related subtypes (2): tendinitis, tendinosis

Subtypes (4): tenosynovial giant cell tumor, tendon sheath lipoma, tenosynovitis, tendon sheath fibroma

Genetics & variants

GWAS landscape

1 GWAS associations across 2 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs151042767	5e-09	CPSF6	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90651388	Liu TY	2025	119	210,582	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90044566	Jiang L	2021	102	456,246	A generalized linear mixed model association tool for biobank-scale data.

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
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs151042767	12	69248035	C>T		intron_variant	CPSF6	5e-09	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.