Details of Disease | DrugMAP

General Information of Disease (ID: DIS0Q1EV)

Disease Name	Spastic paraplegia, optic atropy, and neuropathy
Synonyms	SPOAN; spastic paraplegia-optic atrophy-neuropathy syndrome; spastic paraplegia, optic atropy, and neuropathy syndrome; SPOAN syndrome
Definition	A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.
Disease Hierarchy	DIS9KXQY: Complex hereditary spastic paraplegia DIS0Q1EV: Spastic paraplegia, optic atropy, and neuropathy
Disease Identifiers	MONDO ID MONDO_0012297 MESH ID C563702 UMLS CUI C1836010 OMIM ID 609541 MedGen ID 324411 Orphanet ID 320406 SNOMED CT ID 725139005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FLRT1	OTYNHP9E	Supportive	Autosomal recessive	[1]
KLC2	OTCTPFA5	Supportive	Autosomal recessive	[2]
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References

1	Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014 Jan 31;343(6170):506-511. doi: 10.1126/science.1247363.
2	Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18.