Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

Summary

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome (MONDO:0016564) is a disease. A subtype of atypical progressive supranuclear palsy syndrome — 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): 21

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		10	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

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

HPO ID	Term	Frequency
HP:0011098	Speech apraxia	Very frequent (80-99%)
HP:0006977	Grammar-specific speech disorder	Very frequent (80-99%)
HP:0030391	Spoken Word Recognition Deficit	Very frequent (80-99%)
HP:0002549	Deficit in phonologic short-term memory	Very frequent (80-99%)
HP:0030784	Anomia	Very frequent (80-99%)
HP:0025268	Stuttering	Very frequent (80-99%)
HP:0002167	Abnormality of speech or vocalization	Very frequent (80-99%)
HP:0001268	Mental deterioration	Frequent (30-79%)
HP:0002465	Poor speech	Frequent (30-79%)
HP:0009088	Speech articulation difficulties	Frequent (30-79%)
HP:0031434	Abnormal speech prosody	Frequent (30-79%)
HP:0000741	Apathy	Frequent (30-79%)
HP:0007158	Progressive extrapyramidal muscular rigidity	Occasional (5-29%)
HP:0000511	Vertical supranuclear gaze palsy	Occasional (5-29%)
HP:0002527	Falls	Occasional (5-29%)
HP:0001300	Parkinsonism	Occasional (5-29%)
HP:0002312	Clumsiness	Occasional (5-29%)
HP:0002015	Dysphagia	Occasional (5-29%)
HP:0002172	Postural instability	Occasional (5-29%)
HP:0002381	Aphasia	Occasional (5-29%)
HP:0030217	Limb apraxia	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Mondo ID	MONDO:0016564
Orphanet	240112
UMLS	C5679850
MedGen	1842806
GARD	0020649
Is cancer (heuristic)	no

Also known as: progressive supranuclear palsy-apraxia of speech syndrome · PSP-AOS · PSP-PNFA

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › progressive supranuclear palsy › atypical progressive supranuclear palsy syndrome › progressive supranuclear palsy-progressive non-fluent aphasia syndrome

Related subtypes (3): progressive supranuclear palsy-parkinsonism syndrome, progressive supranuclear palsy-pure akinesia with gait freezing syndrome, progressive supranuclear palsy-corticobasal syndrome

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.