Details of Disease | DrugMAP

General Information of Disease (ID: DISMC6D7)

Disease Name	Adult-onset proximal spinal muscular atrophy, autosomal dominant
Synonyms	Finkel late-adult type Sma; SMAFK; spinal muscular atrophy, late-onset, FINKEL type; spinal muscular atrophy, proximal, adult, autosomal dominant; autosomal dominant adult-onset proximal spinal muscular atrophy; autosomal dominant late-onset spinal muscular atrophy, Finkel type; Finkel disease; autosomal dominant adult-onset proximal SMA
Disease Hierarchy	DISTLKOB: Spinal muscular atrophy DIS6XNI0: Hereditary motor neuron disease DISMC6D7: Adult-onset proximal spinal muscular atrophy, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0008453 MESH ID C566673 UMLS CUI C1854058 OMIM ID 182980 MedGen ID 340120 Orphanet ID 209335 SNOMED CT ID 784391002

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
VAPB	OT9ZTZH0	Supportive	Autosomal dominant	[1]
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References

1	A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet. 2004 Nov;75(5):822-31. doi: 10.1086/425287. Epub 2004 Sep 15.