Primary progressive freezing gait

Summary

Primary progressive freezing gait (MONDO:0019160) is a disease. A subtype of neurodegenerative disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 21

Clinical features

Signs & symptoms

Clinical features (HPO)

21 HPO clinical features (Orphanet curated; top 21 by frequency):

HPO ID	Term	Frequency
HP:0001288	Gait disturbance	Very frequent (80-99%)
HP:0002172	Postural instability	Very frequent (80-99%)
HP:0002359	Frequent falls	Very frequent (80-99%)
HP:0000822	Hypertension	Frequent (30-79%)
HP:0001347	Hyperreflexia	Frequent (30-79%)
HP:0002063	Rigidity	Frequent (30-79%)
HP:0002067	Bradykinesia	Frequent (30-79%)
HP:0002167	Abnormality of speech or vocalization	Frequent (30-79%)
HP:0002169	Clonus	Frequent (30-79%)
HP:0002174	Postural tremor	Frequent (30-79%)
HP:0000020	Urinary incontinence	Occasional (5-29%)
HP:0000726	Dementia	Occasional (5-29%)
HP:0000763	Sensory neuropathy	Occasional (5-29%)
HP:0002015	Dysphagia	Occasional (5-29%)
HP:0002120	Cerebral cortical atrophy	Occasional (5-29%)
HP:0002141	Gait imbalance	Occasional (5-29%)
HP:0002362	Shuffling gait	Occasional (5-29%)
HP:0003487	Babinski sign	Occasional (5-29%)
HP:0007772	Impaired smooth pursuit	Occasional (5-29%)
HP:0012452	Restless legs	Occasional (5-29%)
HP:0100315	Lewy bodies	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	primary progressive freezing gait
Mondo ID	MONDO:0019160
Orphanet	75567
ICD-11	431694225
SNOMED CT	715627004
UMLS	C4275078
MedGen	894846
GARD	0018930
Is cancer (heuristic)	no

Also known as: PPFG

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 › primary progressive freezing gait

Related subtypes (21): synucleinopathy, eyelid degenerative disorder, senile degeneration of brain, olivopontocerebellar atrophy, 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 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

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: 0.