Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
hereditary spastic paraplegia 84
Summary
- Synonym
-
- SPG84
- spastic paraplegia 84 autosomal recessive
- Definition
- A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21.
- Super Class
- autosomal recessive disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0112347
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P42356 | Phosphatidylinositol 4-kinase alpha |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000012 | Urinary urgency |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000639 | Nystagmus |
| HP:0003273 | Hip contracture |
| HP:0010873 | Cervical spinal cord atrophy |
| HP:0001761 | Pes cavus |
| HP:0100702 | Arachnoid cyst |
| HP:0006380 | Knee flexion contracture |
| HP:0001276 | Hypertonia |
| HP:0007340 | Lower limb muscle weakness |
