Details of Disease | DrugMAP

General Information of Disease (ID: DISGB8DX)

Disease Name	Spastic paraplegia, intellectual disability, nystagmus, and obesity
Synonyms	SINO; spastic paraplegia, intellectual disability, nystagmus, and obesity
Disease Hierarchy	DISISEB5: Autosomal dominant complex spastic paraplegia DISGB8DX: Spastic paraplegia, intellectual disability, nystagmus, and obesity
Disease Identifiers	MONDO ID MONDO_0015007 UMLS CUI C4284592 OMIM ID 617296 MedGen ID 924883 Orphanet ID 521390 SNOMED CT ID 1260134001

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
KIDINS220	OTLBH2MA	Strong	Autosomal dominant	[1]
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References

1	Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. Hum Mol Genet. 2016 Jun 1;25(11):2158-2167. doi: 10.1093/hmg/ddw082. Epub 2016 Mar 22.