Details of Disease | DrugMAP

General Information of Disease (ID: DISJN89S)

Disease Name	Spastic tetraplegia and axial hypotonia, progressive
Synonyms	Sod1 Deficiency, Autosomal Recessive; STAHP; SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE
Disease Hierarchy	DISYKSRF: Genetic disease DISJN89S: Spastic tetraplegia and axial hypotonia, progressive
Disease Identifiers	MONDO ID MONDO_0032828 UMLS CUI C5231422 OMIM ID 618598 MedGen ID 1684731

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SOD1	DEUTDON	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SOD1	OT39TA1L	Strong	Autosomal recessive	[1]
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References

1	Phenotype in an Infant with SOD1 Homozygous Truncating Mutation. N Engl J Med. 2019 Aug 1;381(5):486-488. doi: 10.1056/NEJMc1905039. Epub 2019 Jul 17.