Details of Disease

General Information of Disease (ID: DIS0R70E)

Disease Name Proximal spinal muscular atrophy
Synonyms SMA; Spinal Muscular Atrophy
Definition
Proximal spinal muscular atrophies are a group of neuromuscular disorders characterized by progressive muscle weakness resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.
Disease Hierarchy
DISSYRHC: Hereditary peripheral neuropathy
DISTLKOB: Spinal muscular atrophy
DIS6XNI0: Hereditary motor neuron disease
DIS0R70E: Proximal spinal muscular atrophy
Disease Identifiers
MONDO ID
MONDO_0019079
UMLS CUI
C4024957
MedGen ID
870510
HPO ID
HP:0006959
Orphanet ID
70

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BICD2 OTVJ03NZ Strong Genetic Variation [1]
MAP1B OTVXW089 Strong Genetic Variation [2]
SETX OTG3JNOQ Strong Genetic Variation [3]
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References

1 Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. Am J Hum Genet. 2013 Jun 6;92(6):955-64. doi: 10.1016/j.ajhg.2013.04.013. Epub 2013 May 9.
2 Identification of key recombinants in multiplex SMA families.Genomics. 1994 Jul 1;22(1):219-22. doi: 10.1006/geno.1994.1367.
3 SETX gene mutation in a family diagnosed autosomal dominant proximal spinal muscular atrophy.Neuromuscul Disord. 2012 Mar;22(3):258-62. doi: 10.1016/j.nmd.2011.09.006. Epub 2011 Nov 15.