Extrapyramidal and movement disease

Summary

Extrapyramidal and movement disease (MONDO:0001815) is a disease with 4 GWAS associations across 8 studies. A subtype of movement disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	extrapyramidal and movement disease
Mondo ID	MONDO:0001815
DOID	DOID:13839
ICD-10-CM	G20-G26
UMLS	C0477355
MedGen	852565
Is cancer (heuristic)	no

Data availability: 4 GWAS associations (8 studies).

Disease family

This is a subtype of movement disorder. 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 › movement disorder › extrapyramidal and movement disease

Related subtypes (53): cerebellar ataxia, chronic tic disorder, choreatic disease, benign shuddering attacks, transient tic disorder, essential tremor, lingual-facial-buccal dyskinesia, kuru, inherited Creutzfeldt-Jakob disease, Tourette syndrome, clonic hemifacial spasm, Huntington disease, multiple system atrophy, spinal muscular atrophy-progressive myoclonic epilepsy syndrome, benign paroxysmal tonic upgaze of childhood with ataxia, hereditary geniospasm, tremor-nystagmus-duodenal ulcer syndrome, arthrogryposis, Lafora disease, Unverricht-Lundborg syndrome, neuronal intranuclear inclusion disease, Huntington disease-like 3, brain-lung-thyroid syndrome, myoclonus, familial, proximal myopathy with extrapyramidal signs, progressive myoclonic epilepsy type 7, progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome, progressive non-fluent aphasia, opsoclonus-myoclonus syndrome, isolated facial myokymia, primary orthostatic tremor, familial congenital mirror movements, neuroacanthocytosis, behavioral variant of frontotemporal dementia, frontotemporal dementia with motor neuron disease, hyperekplexia, intellectual disability-hyperkinetic movement-truncal ataxia syndrome, neurodegeneration with brain iron accumulation, Huntington disease-like syndrome due to C9ORF72 expansions, variably protease-sensitive prionopathy, corticobasal syndrome, sensorineural hearing loss-early graying-essential tremor syndrome, progressive supranuclear palsy, Sandifer syndrome, psychogenic movement disorders, epilepsy with myoclonic absences, infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, childhood-onset benign chorea with striatal involvement, childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, PRRT2-associated paroxysmal movement disorder, SLC6A3-related dopamine transporter deficiency syndrome, dyskinesia with orofacial involvement, autosomal dominant, complex movement disorder with or without neurodevelopmental features

Subtypes (1): dystonic disorder

Genetics & variants

GWAS landscape

4 GWAS associations across 8 studies. Top hits map to 2 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs113851554	3e-21	MEIS1	G	0.21
rs9982271	8e-12	LINC00323	C	0.08
rs12145636	8e-07	RNU4-77P - KCNK1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475831	Verma A	2024	22,799	413,612	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473306	UK Biobank Whole-Genome Sequencing Consortium	2025	10,811	447,629	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90473311	UK Biobank Whole-Genome Sequencing Consortium	2025	5,642	452,798	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90477511	Verma A	2024	3,097	115,935	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480012	Verma A	2024	3,097	115,935	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90652205	Liu TY	2025	2,652	218,635	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90477510	Verma A	2024	1,774	56,556	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435906	Zhou W	2018	891	395,209	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

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	3

MAF distribution

Bucket	Variants
common (>=0.05)	3
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	1
non_coding_transcript_exon_variant	1
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs113851554	2	66523432	G>A,T	0.051	intron_variant	MEIS1	3e-21	Tier 4: intronic/intergenic
rs9982271	21	41147462	C>T	0.221	non_coding_transcript_exon_variant	LINC00323	8e-12	Tier 4: intronic/intergenic
rs12145636	1	233502732	C>T	0.05	intergenic_variant	RNU4-77P - KCNK1	8e-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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.