Details of Disease | DrugMAP

General Information of Disease (ID: DISD9OYI)

Disease Name	Spasticity-ataxia-gait anomalies syndrome
Synonyms	childhood-onset spasticity with hyperglycinemia; SPAHGC; spasticity, childhood-onset, with hyperglycinemia; childhood-onset spasticity with variant non-ketotic hyperglycinemia
Disease Hierarchy	DISIRRA9: Spastic ataxia DIS5L41Q: Inherited lipoic acid biosynthesis defect DISD9OYI: Spasticity-ataxia-gait anomalies syndrome
Disease Identifiers	MONDO ID MONDO_0014803 UMLS CUI C4225178 OMIM ID 616859 MedGen ID 905660 Orphanet ID 401866 SNOMED CT ID 773492007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLRX5	OTE3L48D	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.