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
Displaying entries 1 - 10 of 16 in total
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
The Human Phenotype Ontology
Displaying entries 1 - 10 of 26 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
3897 L1CAM L1 cell adhesion molecule

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024