hereditary spastic paraplegia 30

MONDO:0012476Mondo

Findings

No curated finding names hereditary spastic paraplegia 30 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spastic paraplegia characterized by either a pure spastic paraplegia phenotype, usually presenting in the first or second decade of life, with spastic lower extremities, usteady spastic gait, hyperreflexia and extensor plantar responses, or as a complicated phenotype with the additional manifestations of distal wasting, saccadic ocular movements, mild cerebellar ataxia and mild, distal, axonal neuropathy.

Definition from the Mondo Disease Ontology (MONDO:0012476), read 2026-09-29. CC BY 4.0.

Features

15 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Babinski signHPOHP:0003487
- Very frequent (80% to 99% of cases)
Leg muscle stiffnessHPOHP:0008969
- Very frequent (80% to 99% of cases)
Lower limb hyperreflexiaHPOHP:0002395
- Very frequent (80% to 99% of cases)
Lower limb spasticityHPOHP:0002061
- Very frequent (80% to 99% of cases)
Progressive spastic paraplegiaHPOHP:0007020
- Very frequent (80% to 99% of cases)
Spastic gaitHPOHP:0002064
- Very frequent (80% to 99% of cases)

Show the remaining 3

Sensorimotor neuropathyHPOHP:0007141
- Frequent (30% to 79% of cases)
Somatic sensory dysfunctionHPOHP:0003474
- Frequent (30% to 79% of cases)
Diffuse cerebellar atrophyHPOHP:0100275
- Occasional (5% to 29% of cases)

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

KIF1AHGNC:888
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: hereditary spastic paraplegia
KIF1A related neurological disorder
Narrower terms (2): spastic paraplegia 30A, autosomal dominant
spastic paraplegia 30B, autosomal recessive

Other names

6 names

Resolves to: hereditary spastic paraplegia 30

Also called: autosomal spastic paraplegia type 30hereditary spastic paraplegia caused by mutation in KIF1Ahereditary spastic paraplegia type 30KIF1A hereditary spastic paraplegiaspastic paraplegia 30, autosomal dominantSPG30