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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:0000256 | Macrocephaly |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001181 | Adducted thumb |
| HP:0004322 | Short stature |
| HP:0002381 | Aphasia |
| HP:0100490 | Camptodactyly of finger |
| HP:0002119 | Ventriculomegaly |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0002362 | Shuffling gait |
