Details of Disease | DrugMAP

General Information of Disease (ID: DISHC3JD)

Disease Name	Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Synonyms	autosomal dominant spinal muscular atrophy, lower extremity-predominant 2; spinal muscular atrophy, LOWER extremity-predominant, 2, autosomal dominant; spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant; Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures; spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant; SMALED2
Disease Hierarchy	DISRCF6M: Autosomal dominant childhood-onset proximal spinal muscular atrophy DISHC3JD: Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Disease Identifiers	MONDO ID MONDO_0014121 UMLS CUI C4747715 OMIM ID 615290 MedGen ID 1669929 Orphanet ID 363454

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
BICD2	OTVJ03NZ	Strong	Autosomal dominant	[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.