hereditary spastic paraplegia 75
Findings
No curated finding names hereditary spastic paraplegia 75 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene.
Definition from the Mondo Disease Ontology (MONDO:0014729), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
33 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.
- Abnormal pyramidal signHPOHP:0007256
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- AstigmatismHPOHP:0000483
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Distal lower limb amyotrophyHPOHP:0008944
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- DysmetriaHPOHP:0001310
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
Show the remaining 21
- Reduced visual acuityHPOHP:0007663
- 3 of 3 reported patients
- Spastic dysarthriaHPOHP:0002464
- 3 of 3 reported patients
- Spastic gaitHPOHP:0002064
- 2 of 2 reported patients
- Spastic paraparesisHPOHP:0002313
- 3 of 3 reported patients
- SpasticityHPOHP:0001257
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Impaired vibratory sensationHPOHP:0002495
- Very frequent (80% to 99% 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.
- MAGHGNC:6783
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: hereditary spastic paraplegia 75
- Also called
- autosomal recessive spastic paraplegia type 75hereditary spastic paraplegia caused by mutation in MAGhereditary spastic paraplegia type 75MAG hereditary spastic paraplegiaspastic paraplegia 75, autosomal recessiveSPG75