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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 hereditary spastic paraplegia
External Links
- Disease Ontology
- DOID:0060246
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4308 | TRPM1 | transient receptor potential cation channel subfamily M member 1 | |
| 4897 | NRCAM | neuronal cell adhesion molecule | |
| 10752 | CHL1 | cell adhesion molecule L1 like | |
| 23114 | NFASC | neurofascin | |
| 80036 | TRPM3 | transient receptor potential cation channel subfamily M member 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002119 | Ventriculomegaly |
| HP:0001258 | Spastic paraplegia |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0001188 | Hand clenching |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0001288 | Gait disturbance |
| HP:0000750 | Delayed speech and language development |
| HP:0001347 | Hyperreflexia |
| HP:0004322 | Short stature |
| HP:0001249 | Intellectual disability |
