Olivopontocerebellar atrophy

Summary

Olivopontocerebellar atrophy (MONDO:0002017) is a disease and 1 clinical trial. A subtype of neurodegenerative disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• ClinVar variants: 1
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	olivopontocerebellar atrophy
Mondo ID	MONDO:0002017
MeSH	D009849
DOID	DOID:14784
ICD-11	1467584080
NCIT	C84947
SNOMED CT	67761004
UMLS	C0028968
MedGen	10435
GARD	0027595
Is cancer (heuristic)	no

Also known as: OPCA · Thomas’ syndrome

Data availability: 1 ClinVar variant.

Disease family

This is a subtype of neurodegenerative disease. 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 › central nervous system disorder › neurodegenerative disease › olivopontocerebellar atrophy

Related subtypes (21): synucleinopathy, eyelid degenerative disorder, senile degeneration of brain, neuroaxonal dystrophy, demyelinating disease, choroidal sclerosis, tauopathy, secondary Parkinson disease, infantile bilateral striatal necrosis, Marchiafava-Bignami disease, superficial siderosis, primary progressive apraxia of speech, human prion disease, primary progressive freezing gait, primary progressive aphasia, motor neuron disorder, brachial amyotrophic diplegia, cerebellar degeneration, inherited neurodegenerative disorder, cerebral degeneration, hypertrophic olivary degeneration

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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
267939	46;XY;inv(2)(q11.2q24.2)dn		Uncertain significance	criteria provided, single submitter

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
NCT02194816	Not specified	RECRUITING	Modifiable Variables in Parkinsonism (MVP)