hereditary spastic paraplegia 51
Findings
No curated finding names hereditary spastic paraplegia 51 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 AP4E1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013401), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 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.
- HyperreflexiaHPOHP:0001347
- 7 of 7 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients · Infantile onset
- Inability to walkHPOHP:0002540
- 2 of 2 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 7 of 7 reported patients · Neonatal onset
- Severe intellectual disabilityHPOHP:0010864
- 10 of 10 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 2 of 2 reported patients
- VentriculomegalyHPO
Show the remaining 5
- DroolingHPOHP:0002307
- 6 of 10 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 2 reported patients
- SeizureHPOHP:0001250
- 3 of 10 reported patients
- OverweightHPOHP:0025502
- 2 of 8 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 8 reported patients
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.
- AP4E1HGNC:573
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
5 names
Resolves to: hereditary spastic paraplegia 51
- Also called
- AP4E1 hereditary spastic paraplegiahereditary spastic paraplegia caused by mutation in AP4E1hereditary spastic paraplegia type 51Spastic Paraplegia 51SPG51