Filarial elephantiasis

Summary

Filarial elephantiasis (MONDO:0005761) is a disease with 8 GWAS associations across 3 studies and 2 clinical trials. Top therapeutic interventions include albendazole and diethylcarbamazine. A subtype of parasitic eyelid infestation — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: >1 / 1000 (Specific population) [Orphanet-validated]
• GWAS associations: 8
• Phenotypes (HPO): 33
• Clinical trials: 2

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	>1 / 1000		Specific population	Validated
Point prevalence	<1 / 1 000 000		Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

33 HPO clinical features (Orphanet curated; top 33 by frequency):

HPO ID	Term	Frequency
HP:0001004	Lymphedema	Very frequent (80-99%)
HP:0002716	Lymphadenopathy	Very frequent (80-99%)
HP:0003550	Predominantly lower limb lymphedema	Very frequent (80-99%)
HP:0100763	Abnormality of the lymphatic system	Very frequent (80-99%)
HP:0000953	Hyperpigmentation of the skin	Frequent (30-79%)
HP:0000962	Hyperkeratosis	Frequent (30-79%)
HP:0002840	Lymphadenitis	Frequent (30-79%)
HP:0012224	Circulating immune complexes	Frequent (30-79%)
HP:0012378	Fatigue	Frequent (30-79%)
HP:0012531	Pain	Frequent (30-79%)
HP:0032061	Hypereosinophilia	Frequent (30-79%)
HP:0000034	Hydrocele testis	Occasional (5-29%)
HP:0000045	Abnormality of the scrotum	Occasional (5-29%)
HP:0000077	Abnormality of the kidney	Occasional (5-29%)
HP:0001945	Fever	Occasional (5-29%)
HP:0002088	Abnormal lung morphology	Occasional (5-29%)
HP:0002091	Restrictive ventilatory defect	Occasional (5-29%)
HP:0012735	Cough	Occasional (5-29%)
HP:0030828	Wheezing	Occasional (5-29%)
HP:0031690	Opportunistic infection	Occasional (5-29%)
HP:0031842	Lymphangiectasis	Occasional (5-29%)
HP:0032260	Opportunistic bacterial infection	Occasional (5-29%)
HP:0100673	Vaginal hydrocele	Occasional (5-29%)
HP:0100796	Orchitis	Occasional (5-29%)
HP:0000031	Epididymitis	Very rare (<1-4%)
HP:0000093	Proteinuria	Very rare (<1-4%)
HP:0000099	Glomerulonephritis	Very rare (<1-4%)
HP:0000100	Nephrotic syndrome	Very rare (<1-4%)
HP:0000790	Hematuria	Very rare (<1-4%)
HP:0000796	Urethral obstruction	Very rare (<1-4%)
HP:0001785	Ankle swelling	Very rare (<1-4%)
HP:0005086	Knee osteoarthritis	Very rare (<1-4%)
HP:0008763	No social interaction	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	filarial elephantiasis
Mondo ID	MONDO:0005761
EFO	EFO:0007272
MeSH	D004605
Orphanet	2035
DOID	DOID:12211
ICD-11	247221550
NCIT	C128360
SNOMED CT	14100003, 240820001
UMLS	C0013884
MedGen	8583
GARD	0003321
MedDRA	10016675
NORD	1082
Anatomy (UBERON)	UBERON:0001711
Is cancer (heuristic)	no

Also known as: Bancroftian filariasis · Elephantiasis · elephantiasis · eyelid elephantiasis · Malayi tropical eosinphilia · Wuchereria Bancrofti infection · Wuchereriasis

Data availability: 8 GWAS associations (3 studies).

Disease family

Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye adnexa disorder › eyelid disorder › blepharitis › parasitic eyelid infestation › filarial elephantiasis

Genetics & variants

GWAS landscape

8 GWAS associations across 3 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
rs7742085	1e-09	HLA-DQB2 - HLA-DOB	G	1.43
rs4959107	1e-08	HLA-DRB1 - HLA-DQA1	T	1.45
rs12933387	2e-07	ERN2 - CHP2	G	0.74
rs2735059	2e-07	HLA-F, HLA-F-AS1	A	1.39
rs76006134	2e-07	TAFA5	A	1.55
rs79562145	5e-07	ZFHX4-AS1	A	1.39
rs57441413	9e-07	LINC02945 - FAM241A	T	3.14

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90281189	Grover S	2023	1,459	1,492	First genome-wide association study for lymphatic filariasis in a West African population points to an HLA-mediated disease pathophysiology.
GCST90281190	Grover S	2023	1,166	1,492	First genome-wide association study for lymphatic filariasis in a West African population points to an HLA-mediated disease pathophysiology.
GCST90281191	Grover S	2023	278	1,492	First genome-wide association study for lymphatic filariasis in a West African population points to an HLA-mediated disease pathophysiology.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	1
Tier 3: regulatory	1
Tier 4: intronic/intergenic	5

MAF distribution

Bucket	Variants
common (>=0.05)	7
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intergenic_variant	3
intron_variant	2
regulatory_region_variant	1
3_prime_UTR_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7742085	6	32778401	T>G	0.268	intergenic_variant	HLA-DQB2 - HLA-DOB	1e-09	Tier 4: intronic/intergenic
rs4959107	6	32623913	C>T	0.286	regulatory_region_variant	HLA-DRB1 - HLA-DQA1	1e-08	Tier 3: regulatory
rs12933387	16	23739895	A>G	0.319	intergenic_variant	ERN2 - CHP2	2e-07	Tier 4: intronic/intergenic
rs2735059	6	29728077	G>A,C	0.313	3_prime_UTR_variant	HLA-F, HLA-F-AS1	2e-07	Tier 2: splice/UTR
rs76006134	22	48680428	G>A	0.143	intron_variant	TAFA5	2e-07	Tier 4: intronic/intergenic
rs79562145	8	76664010	G>A	0.205	intron_variant	ZFHX4-AS1	5e-07	Tier 4: intronic/intergenic
rs57441413	4	112132236	C>T	0.073	intergenic_variant	LINC02945 - FAM241A	9e-07	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

Drugs indicated for this disease

0 approved, 4 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Albendazole	Phase 3 (in late-stage trials)
Diethylcarbamazine	Phase 3 (in late-stage trials)
Ivermectin	Phase 3 (in late-stage trials)
Moxidectin	Phase 3 (in late-stage trials)

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00375583	PHASE2	COMPLETED	Effect of Albendazole Dose on Clearance of Filarial Worms
NCT02845713	PHASE1	COMPLETED	Pharmacokinetics & Pharmacodynamics of Diethylcarbamazine (DEC)+ Albendazole (ALB) + Ivermectin (IVE)

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
ALBENDAZOLE	4	1
DIETHYLCARBAMAZINE	4	1
CHEMBL48977	0	1
CHEMBL263291	0	1