Details of Disease

General Information of Disease (ID: DIS3QZ88)

Disease Name Hereditary spastic paraplegia 75
Synonyms
hereditary spastic paraplegia caused by mutation in MAG; spastic paraplegia 75, autosomal recessive; MAG hereditary spastic paraplegia; autosomal recessive spastic paraplegia 75; hereditary spastic paraplegia type 75; SPG75; autosomal recessive spastic paraplegia type 75
Definition Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the MAG gene.
Disease Hierarchy
DIS9KXQY: Complex hereditary spastic paraplegia
DISGZQV1: Hereditary spastic paraplegia
DIS3QZ88: Hereditary spastic paraplegia 75
Disease Identifiers
MONDO ID
MONDO_0014729
UMLS CUI
C4225250
OMIM ID
616680
MedGen ID
896387
Orphanet ID
459056
SNOMED CT ID
1187470001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MAG TT9XFON Limited Genetic Variation [1]
MAG TT9XFON Strong Autosomal recessive [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MAG OTWVRR0K Strong Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site.Ann Clin Transl Neurol. 2016 Jun 23;3(8):650-4. doi: 10.1002/acn3.329. eCollection 2016 Aug.
2 [Carbon assimilation and taxonomic study of Bacillus subtillis and B. licheniformis]. Can J Microbiol. 1979 Apr;25(4):491-8.