Alveolar echinococcosis

Summary

Alveolar echinococcosis (MONDO:0017282) is a disease and 5 clinical trials. Top therapeutic interventions include benzimidazole. A subtype of echinococcosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
• Phenotypes (HPO): 50
• Clinical trials: 5

Clinical features

Epidemiology

Prevalence records

5 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Annual incidence	1-9 / 1 000 000	0.16	Europe	Validated
Annual incidence	1-9 / 1 000 000	0.26	Switzerland	Validated
Annual incidence	<1 / 1 000 000	0.014	Poland	Validated
Annual incidence	1-9 / 100 000	2.8	Austria	Validated
Annual incidence	<1 / 1 000 000	0.026	France	Validated

Signs & symptoms

Clinical features (HPO)

50 HPO clinical features (Orphanet curated; top 50 by frequency):

HPO ID	Term	Frequency
HP:0001407	Hepatic cysts	Very frequent (80-99%)
HP:0001880	Eosinophilia	Very frequent (80-99%)
HP:0003565	Elevated erythrocyte sedimentation rate	Very frequent (80-99%)
HP:0010702	Increased circulating antibody level	Very frequent (80-99%)
HP:0000952	Jaundice	Frequent (30-79%)
HP:0001410	Decreased liver function	Frequent (30-79%)
HP:0001903	Anemia	Frequent (30-79%)
HP:0001945	Fever	Frequent (30-79%)
HP:0002027	Abdominal pain	Frequent (30-79%)
HP:0003419	Low back pain	Frequent (30-79%)
HP:0010741	Pedal edema	Frequent (30-79%)
HP:0012378	Fatigue	Frequent (30-79%)
HP:0025406	Asthenia	Frequent (30-79%)
HP:0410019	Epigastric pain	Frequent (30-79%)
HP:0000107	Renal cyst	Occasional (5-29%)
HP:0000766	Abnormal sternum morphology	Occasional (5-29%)
HP:0001824	Weight loss	Occasional (5-29%)
HP:0002094	Dyspnea	Occasional (5-29%)
HP:0002105	Hemoptysis	Occasional (5-29%)
HP:0002315	Headache	Occasional (5-29%)
HP:0010766	Ectopic calcification	Occasional (5-29%)
HP:0011732	Abnormality of adrenal morphology	Occasional (5-29%)
HP:0012735	Cough	Occasional (5-29%)
HP:0025408	Abnormal spleen morphology	Occasional (5-29%)
HP:0030151	Cholangitis	Occasional (5-29%)
HP:0031292	Cutaneous abscess	Occasional (5-29%)
HP:0032445	Pulmonary cyst	Occasional (5-29%)
HP:0100749	Chest pain	Occasional (5-29%)
HP:0000775	Abnormality of the diaphragm	Very rare (<1-4%)
HP:0001250	Seizure	Very rare (<1-4%)
HP:0001251	Ataxia	Very rare (<1-4%)
HP:0001260	Dysarthria	Very rare (<1-4%)
HP:0001269	Hemiparesis	Very rare (<1-4%)
HP:0001409	Portal hypertension	Very rare (<1-4%)
HP:0001697	Abnormal pericardium morphology	Very rare (<1-4%)
HP:0001737	Pancreatic cysts	Very rare (<1-4%)
HP:0002013	Vomiting	Very rare (<1-4%)
HP:0002321	Vertigo	Very rare (<1-4%)
HP:0002381	Aphasia	Very rare (<1-4%)
HP:0002516	Increased intracranial pressure	Very rare (<1-4%)
HP:0002613	Biliary cirrhosis	Very rare (<1-4%)
HP:0002639	Budd-Chiari syndrome	Very rare (<1-4%)
HP:0003468	Abnormal vertebral morphology	Very rare (<1-4%)
HP:0010576	Intracranial cystic lesion	Very rare (<1-4%)
HP:0011805	Abnormal skeletal muscle morphology	Very rare (<1-4%)
HP:0012062	Bone cyst	Very rare (<1-4%)
HP:0025487	Abnormality of bladder morphology	Very rare (<1-4%)
HP:0040163	Abnormal pelvis bone morphology	Very rare (<1-4%)
HP:0100016	Abnormality of mesentery morphology	Very rare (<1-4%)
HP:0100523	Liver abscess	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	alveolar echinococcosis
Mondo ID	MONDO:0017282
MeSH	C536591
Orphanet	284
DOID	DOID:12148
ICD-11	1407575161
SNOMED CT	21009004
UMLS	C0152069
MedGen	508867
GARD	0000207
MedDRA	10053042
Is cancer (heuristic)	no

Also known as: echinococcosis · Echinococcus multilocularis caused disease or disorder · Echinococcus multilocularis disease or disorder · Echinococcus multilocularis infection · Echinococcus multilocularis infectious disease

Disease family

This is a subtype of echinococcosis. 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 › parasitic infectious disease › helminthiasis › Cestode infectious disease › echinococcosis › alveolar echinococcosis

Related subtypes (2): polycystic echinococcosis, echinococcus granulosus infectious disease

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

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: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07182305	PHASE2	COMPLETED	Treatment Trial of Alveolar Echinococcosis
NCT05824442	Not specified	RECRUITING	Evaluation of a New Multiplex Quantitative PCR Technique for the Diagnosis of Echinococcosis
NCT00658294	Not specified	COMPLETED	Analysis of the Potentially Parasitocidal Effect of a Long Term Chemotherapy With Benzimidazoles
NCT02509884	Not specified	COMPLETED	Long-term Results of Comprehensive AE Management
NCT02876146	Not specified	COMPLETED	Alveolar Echinococcosis: Parasite Viability and Innovative Markers for the Follow-up of Patients Treated With Albendazole

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BENZIMIDAZOLE	-1	1