Hereditary spastic paraplegia 34

Summary

Hereditary spastic paraplegia 34 (MONDO:0010418) 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): 8

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		24	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

8 HPO clinical features (Orphanet curated; top 8 by frequency):

HPO ID	Term	Frequency
HP:0001347	Hyperreflexia	Frequent (30-79%)
HP:0001348	Brisk reflexes	Frequent (30-79%)
HP:0002061	Lower limb spasticity	Frequent (30-79%)
HP:0002166	Impaired vibration sensation in the lower limbs	Frequent (30-79%)
HP:0002362	Shuffling gait	Frequent (30-79%)
HP:0003487	Babinski sign	Frequent (30-79%)
HP:0011448	Ankle clonus	Frequent (30-79%)
HP:0012514	Lower limb pain	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	hereditary spastic paraplegia 34
Mondo ID	MONDO:0010418
MeSH	C567465
OMIM	300750
Orphanet	171607
DOID	DOID:0110785
SNOMED CT	763370008
UMLS	C2677897
MedGen	437069
GARD	0017063
Is cancer (heuristic)	no

Also known as: hereditary spastic paraplegia type 34 · spastic paraplegia 34, X-linked · spastic paraplegia 34, X-linked, X-linked recessive · SPG34 · X-linked spastic paraplegia type 34

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 34

Related subtypes (11): hereditary spastic paraplegia 8, hereditary spastic paraplegia 12, hereditary spastic paraplegia 19, 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.