Periodic limb movement disorder

Summary

Periodic limb movement disorder (MONDO:0005905) is a disease with 5 GWAS associations across 3 studies and 3 clinical trials. A subtype of sleep-wake disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 5
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	periodic limb movement disorder
Mondo ID	MONDO:0005905
EFO	EFO:0007428
DOID	DOID:9207
ICD-10-CM	G47.61
ICD-11	1846518306
SNOMED CT	418763003
UMLS	C0751774
MedGen	199731
Is cancer (heuristic)	no

Data availability: 5 GWAS associations (3 studies).

Disease family

This is a subtype of sleep-wake 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 developmental or physiological process › sleep disorder › sleep-wake disorder › periodic limb movement disorder

Related subtypes (11): bruxism, recurrent hypersomnia, sleep apnea syndrome, hypersomnia, REM sleep behavior disorder, autosomal dominant cerebellar ataxia, deafness and narcolepsy, hereditary sensory neuropathy-deafness-dementia syndrome, autoimmune encephalopathy with parasomnia and obstructive sleep apnea, narcolepsy, circadian rhythm sleep disorder, sleep disorder, initiating and maintaining sleep

Genetics & variants

GWAS landscape

5 GWAS associations across 3 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
rs9369062	3e-22	BTBD9	?	0.21
rs113851554	4e-12	MEIS1	T	1.63
rs4236060	4e-11	BTBD9	?	0.58
rs528396347	3e-08	HCN1 - EMB	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90651593	Liu TY	2025	115	203,812	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90270120	Edelson JL	2022	0	0	The Genetic Etiology of Periodic Leg Movement in Sleep.
GCST90270121	Edelson JL	2022	0	0	The Genetic Etiology of Periodic Leg Movement in Sleep.

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	4

MAF distribution

Bucket	Variants
common (>=0.05)	3
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	3
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs9369062	6	38469527	A>C,G,T	0.05	intron_variant	BTBD9	3e-22	Tier 4: intronic/intergenic
rs113851554	2	66523432	G>A,T	0.05	intron_variant	MEIS1	4e-12	Tier 4: intronic/intergenic
rs4236060	6	38502311	C>G,T	0.05	intron_variant	BTBD9	4e-11	Tier 4: intronic/intergenic
rs528396347	5	50284400	CA>C		intergenic_variant	HCN1 - EMB	3e-08	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: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04569643	Not specified	UNKNOWN	Periodic Limb Movement Syndrome in Patients With Cerebral Small Vessel Disease.
NCT04618978	Not specified	COMPLETED	Periodic Leg Movements’ Diagnosis in Spinal Cord Injury: Actigraphy as an Alternative for Polysomnography?
NCT04816136	Not specified	COMPLETED	Consequences of Post Stroke Polysomnographic Abnormalities on Functionnal Recovery and Survival After an Ischemic Stroke