Extrapulmonary tuberculosis

Summary

Extrapulmonary tuberculosis (MONDO:0000368) is a disease (an umbrella term covering 13 Mondo subtypes) with 9 GWAS associations across 1 studies and 4 clinical trials. A subtype of tuberculosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 13 Mondo subtypes
• GWAS associations: 9
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	extrapulmonary tuberculosis
Mondo ID	MONDO:0000368
DOID	DOID:0050598
SNOMED CT	423997002
UMLS	C0679362
MedGen	671310
GARD	0022756
Is cancer (heuristic)	no

Data availability: 9 GWAS associations (1 study).

Disease family

This is a subtype of tuberculosis. 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 etiologic mechanism › disease of primarily extrinsic mechanism › infectious disease › bacterial infectious disease › primary bacterial infectious disease › tuberculosis › extrapulmonary tuberculosis

Related subtypes (11): pulmonary tuberculosis, endocrine tuberculosis, tuberculoma, latent tuberculosis infection, drug-resistant tuberculosis, active tuberculosis, tuberculous encephalopathy, primary tuberculous lymphadenitis, primary bone and joint tuberculosis, multifocal tuberculosis, primary tuberculosis of the digestive system

Subtypes (13): abdominal tuberculosis, cardiac tuberculosis, central nervous system tuberculosis, gastrointestinal tuberculosis, laryngeal tuberculosis, lymph node tuberculosis, miliary tuberculosis, pericardial tuberculosis, pleural tuberculosis, skeletal tuberculosis, urogenital tuberculosis, ocular tuberculosis, cutaneous tuberculosis

Genetics & variants

GWAS landscape

9 GWAS associations across 1 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
rs1526554	4e-07	THSD7A	C	1.6
rs10158328	3e-06	ADAM15	G	4.08
rs10221875	3e-06	RNU6-1168P - RNU6-1007P	G	2.73
rs34922295	5e-06	DGKB	T	0.58
rs6489368	5e-06	CACNA1C	G	1.54
rs149549781	5e-06	FOXO3	C	2.94
rs79675439	6e-06	RPS23P5 - NENFP3	G	2.38
rs17502738	7e-06	ZBTB5	C	6.22
rs12580873	8e-06	LINC02392 - LINC02822	G	1.51

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90275072	Bai H	2023	330	1,584	Genome-wide association study of tuberculosis in the western Chinese Han and Tibetan population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	8

MAF distribution

Bucket	Variants
common (>=0.05)	8
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	5
intergenic_variant	3
missense_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs1526554	7	11702109	C>T	0.05	intron_variant	THSD7A	4e-07	Tier 4: intronic/intergenic
rs10158328	1	155055287	A>G	0.05	intron_variant	ADAM15	3e-06	Tier 4: intronic/intergenic
rs10221875	2	88400646	A>G	0.05	intergenic_variant	RNU6-1168P - RNU6-1007P	3e-06	Tier 4: intronic/intergenic
rs34922295	7	14603321	A>T	0.05	intron_variant	DGKB	5e-06	Tier 4: intronic/intergenic
rs6489368	12	2366684	G>A,C,T	0.05	intron_variant	CACNA1C	5e-06	Tier 4: intronic/intergenic
rs149549781	6	108658411	A>C		intron_variant	FOXO3	5e-06	Tier 4: intronic/intergenic
rs79675439	5	13394248	A>G	0.05	intergenic_variant	RPS23P5 - NENFP3	6e-06	Tier 4: intronic/intergenic
rs17502738	9	37441653	T>C	0.05	missense_variant	ZBTB5	7e-06	Tier 1: coding
rs12580873	12	90393455	G>A,T	0.05	intergenic_variant	LINC02392 - LINC02822	8e-06	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
NCT06875336	Not specified	RECRUITING	A Multicentric Cohort and Biomarker Study for Improved Care of Patients with Extrapulmonary Tuberculosis
NCT01252992	Not specified	COMPLETED	Paradoxical Reactions in Non Immuno-compromized Patients With Extrapulmonary Tuberculosis
NCT01613196	Not specified	COMPLETED	Positron Emission Tomography in Extrapulmonary Tuberculosis
NCT04122404	Not specified	COMPLETED	POC Strategies to Improve TB Care in Advanced HIV Disease