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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 |
|---|---|---|---|
| 821 | CANX | calnexin | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 2583 | B4GALNT1 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4099 | MAG | myelin associated glycoprotein | |
| 5833 | PCYT2 | phosphate cytidylyltransferase 2, ethanolamine | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 8869 | ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | |
| 9197 | SLC33A1 | solute carrier family 33 member 1 | |
| 9420 | CYP7B1 | cytochrome P450 family 7 subfamily B member 1 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100490 | Camptodactyly of finger |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0002381 | Aphasia |
| HP:0002808 | Kyphosis |
| HP:0000486 | Strabismus |
| HP:0002061 | Lower limb spasticity |
| HP:0000252 | Microcephaly |
| HP:0002362 | Shuffling gait |
| HP:0001761 | Pes cavus |
| HP:0000238 | Hydrocephalus |
