Buruli ulcer disease

Summary

Buruli ulcer disease (MONDO:0000327) is a disease with 1 cohort gene (2 GWAS associations across 1 studies) and 11 clinical trials. Top therapeutic interventions include doxycycline anhydrous and telacebec.

At a glance

• Cohort genes: 1
• GWAS associations: 2
• Clinical trials: 11

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Buruli ulcer disease
Mondo ID	MONDO:0000327
MeSH	D054312
DOID	DOID:0050456
ICD-11	1974989140
NCIT	C84604
SNOMED CT	15845006
UMLS	C0085568
MedGen	43206
GARD	0009520
Is cancer (heuristic)	no

Also known as: Buruli ulcer · Mycobacterium ulcerans caused disease or disorder · Mycobacterium ulcerans disease or disorder · Mycobacterium ulcerans infectious disease

Data availability: 2 GWAS associations (1 study).

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of primarily extrinsic mechanism › infectious disease › bacterial infectious disease › primary bacterial infectious disease › Buruli ulcer disease

Related subtypes (36): sennetsu fever, salmonellosis, pinta disease, chancroid, gonorrhea, anthrax infection, leprosy, botulism, diphtheria, tetanus, bartonellosis, brucellosis, campylobacteriosis, glanders, granuloma inguinale, legionellosis, leptospirosis, listeriosis, Mycobacterium avium complex disease, ornithosis, rhinoscleroma, staphyloenterotoxemia, syphilis, cholera, ehrlichiosis, melioidosis, tuberculosis, tularemia, plague, Q fever, shigellosis, Lyme disease, relapsing fever, spirillary rat-bite fever, streptobacillary rat-bite fever, Borrelia miyamotoi disease

Genetics & variants

GWAS landscape

2 GWAS associations across 1 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
rs76647377	1e-07	LINC01622	G	2.44
rs9814705	3e-07	RPL21P39 - PLOD2	C	1.8

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST010077	Manry J	2020	402	0	Genome-wide association study of Buruli ulcer in rural Benin highlights role of two LncRNAs and the autophagy pathway.

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	2

MAF distribution

Bucket	Variants
common (>=0.05)	2
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs76647377	6	984961	G>A	0.05	intron_variant	LINC01622	1e-07	Tier 4: intronic/intergenic
rs9814705	3	145962558	C>A,T	0.1	intron_variant	RPL21P39 - PLOD2	3e-07	Tier 4: intronic/intergenic

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Cohort genes → proteins

1 cohort genes, 0 distinct canonical proteins.

Evidence partition

Subset	Genes
gwas_only	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
LINC01622	HGNC:27768	ENSG00000286785		long intergenic non-protein coding RNA 1622	gwas

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
LINC01622	Other/Unknown	no

Expression context

Cohort genes with no expression data: 0.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
buccal mucosa cell	1
left testis	1
right testis	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
LINC01622	95	tissue_specific		buccal mucosa cell, right testis, left testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
LINC01622	0

Structural data

PDB: 0 · AlphaFold-only: 0 · No structure: 1

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Amoxicillin, Clarithromycin, Clavulanic Acid, Rifampin, Streptomycin.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
LINC01622	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 0; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	LINC01622

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
LINC01622	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 11.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE2	3
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00321178	PHASE2/PHASE3	COMPLETED	BURULICO Drug Trial Study Protocol: RCT SR8/SR4+CR4, GHANA
NCT05169554	PHASE2	RECRUITING	Beta-Lactam Containing Regimen for the Shortening of Buruli Ulcer Disease Therapy
NCT06481163	PHASE2	RECRUITING	Telacebec (T) Treatment in Adults With Buruli Ulcer (BU).
NCT02281643	PHASE2	COMPLETED	Concomitant Infections of Mansonella Perstans in Tuberculosis and Buruli Ulcer Disease Patients From Ghana
NCT07248462	Not specified	NOT_YET_RECRUITING	Integrating Mental Health Into Neglected Tropical Disease Care in Ghana
NCT07506967	Not specified	NOT_YET_RECRUITING	Early Detection and AI-Based Management of Skin-Related Neglected Tropical Diseases in Sub-Saharan Africa by Frontline Health Workers
NCT01432925	Not specified	COMPLETED	Timing of Surgical Intervention in Buruli Ulcer Patients Treated With Antibiotics
NCT02153034	Not specified	UNKNOWN	Pathogenesis and Management of M. Ulcerans Disease, Buruli Ulcer
NCT03683745	Not specified	COMPLETED	Integrated Mapping of Skin-presenting Neglected Tropical Diseases in Liberia
NCT03957447	Not specified	UNKNOWN	Treat Early and Broad: Thermotherapy of Buruli Ulcer Integrated Into WHO-recommended Wound Management in West Africa
NCT03969940	Not specified	WITHDRAWN	Thermotherapy of Buruli Ulcer at Community Level in the Health District of Akonolinga

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DOXYCYCLINE ANHYDROUS	4	1
TELACEBEC	2	1