Hereditary spastic paraplegia 19

Summary

Hereditary spastic paraplegia 19 (MONDO:0011785) is a disease. A subtype of pure hereditary spastic paraplegia — 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): 24

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

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

Signs & symptoms

Clinical features (HPO)

24 HPO clinical features (Orphanet curated; top 24 by frequency):

HPO ID	Term	Frequency
HP:0007340	Lower limb muscle weakness	Very frequent (80-99%)
HP:0000012	Urinary urgency	Very frequent (80-99%)
HP:0001347	Hyperreflexia	Very frequent (80-99%)
HP:0002061	Lower limb spasticity	Very frequent (80-99%)
HP:0002314	Degeneration of the lateral corticospinal tracts	Very frequent (80-99%)
HP:0003487	Babinski sign	Very frequent (80-99%)
HP:0007020	Progressive spastic paraplegia	Very frequent (80-99%)
HP:0002070	Limb ataxia	Frequent (30-79%)
HP:0002166	Impaired vibration sensation in the lower limbs	Frequent (30-79%)
HP:0002169	Clonus	Frequent (30-79%)
HP:0003394	Muscle spasm	Frequent (30-79%)
HP:0007210	Lower limb amyotrophy	Frequent (30-79%)
HP:0010831	Impaired proprioception	Frequent (30-79%)
HP:0012898	Abnormal lower-limb motor evoked potentials	Frequent (30-79%)
HP:0030014	Female sexual dysfunction	Frequent (30-79%)
HP:0040307	Male sexual dysfunction	Frequent (30-79%)
HP:0100561	Spinal cord lesion	Frequent (30-79%)
HP:0001761	Pes cavus	Occasional (5-29%)
HP:0002064	Spastic gait	Occasional (5-29%)
HP:0007350	Hyperreflexia in upper limbs	Occasional (5-29%)
HP:0001288	Gait disturbance	Occasional (5-29%)
HP:0001250	Seizure	Excluded (0%)
HP:0002921	Abnormality of the cerebrospinal fluid	Excluded (0%)
HP:0003457	EMG abnormality	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	hereditary spastic paraplegia 19
Mondo ID	MONDO:0011785
MeSH	C536856
OMIM	607152
Orphanet	100999
DOID	DOID:0110772
SNOMED CT	763375003
UMLS	C1846685
MedGen	335494
GARD	0009588
Is cancer (heuristic)	no

Also known as: autosomal dominant spastic paraplegia type 19 · hereditary spastic paraplegia type 19 · spastic paraplegia 19 · spastic paraplegia 19, autosomal dominant · SPG19

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › palsy › paraplegia › hereditary spastic paraplegia › pure hereditary spastic paraplegia › hereditary spastic paraplegia 19

Related subtypes (11): hereditary spastic paraplegia 34, hereditary spastic paraplegia 8, hereditary spastic paraplegia 12, hereditary spastic paraplegia 28, hereditary spastic paraplegia 37, hereditary spastic paraplegia 42, hereditary spastic paraplegia 41, hereditary spastic paraplegia 72, hereditary spastic paraplegia 62, hereditary spastic paraplegia 73, autosomal recessive spastic paraplegia type 71

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.