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
MASA syndrome
Summary
- Synonym
-
- CRASH syndrome
- Gareis-Mason syndrome
- L1 syndrome
- SPG1
- X-linked complicated hereditary spastic paraplegia type 1
- X-linked corpus callosum agenesis
- X-linked spastic paraplegia 1
- hereditary spastic paraplegia 1
- Definition
- A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
- Super Class
- X-linked recessive disease brain disease hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0060246
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P32004 | Neural cell adhesion molecule L1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| A2AFG7 | L1 cell adhesion molecule |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P20241 | Neuroglian |
| UniProt ID | Protein Name | Source |
|---|---|---|
| H2L0R2 | Ig-like domain-containing protein | |
| Q18100 | Fibronectin type-III domain-containing protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001258 | Spastic paraplegia |
| HP:0001188 | Hand clenching |
| HP:0001288 | Gait disturbance |
| HP:0000750 | Delayed speech and language development |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001347 | Hyperreflexia |
| HP:0001249 | Intellectual disability |
| HP:0000486 | Strabismus |
| HP:0000252 | Microcephaly |
| HP:0000238 | Hydrocephalus |
