Episodic ataxia type 3

Summary

Episodic ataxia type 3 (MONDO:0011682) is a disease and 1 clinical trial. A subtype of hereditary episodic ataxia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 7
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		1	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

7 HPO clinical features (Orphanet curated; top 7 by frequency):

HPO ID	Term	Frequency
HP:0002131	Episodic ataxia	Obligate (100%)
HP:0002321	Vertigo	Obligate (100%)
HP:0000360	Tinnitus	Frequent (30-79%)
HP:0002411	Myokymia	Frequent (30-79%)
HP:0000639	Nystagmus	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0002301	Hemiplegia	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	episodic ataxia type 3
Mondo ID	MONDO:0011682
MeSH	C564697
OMIM	606554
Orphanet	79135
DOID	DOID:0050991
SNOMED CT	718755009
UMLS	C1847839
MedGen	376220
GARD	0016702
Is cancer (heuristic)	no

Also known as: EA3 · episodic ataxia, type 3 · episodic ataxia-vertigo-tinnitus-myokymia syndrome

Disease family

This is a subtype of hereditary episodic ataxia. 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 › nervous system disorder › atactic disorder › hereditary ataxia › hereditary episodic ataxia › episodic ataxia type 3

Related subtypes (8): episodic ataxia type 2, episodic ataxia type 1, episodic ataxia type 4, episodic ataxia type 7, episodic ataxia type 6, episodic ataxia type 5, episodic ataxia type 8, episodic ataxia, type 9

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford