Details of Disease

General Information of Disease (ID: DIS0QMLK)

Disease Name Neuronopathy, distal hereditary motor, type 2D
Synonyms
neuronopathy, distal hereditary motor, type IID; spinal muscular atrophy, distal, autosomal dominant, calf-predominant; HMN 2D; HMN2D; neuropathy, distal hereditary motor, type 2D; FBXO38 neuronopathy, distal hereditary motor; neuronopathy, distal hereditary motor caused by mutation in FBXO38
Definition Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.
Disease Hierarchy
DISGS2ID: Distal hereditary motor neuropathy
DIS162V1: Distal hereditary motor neuropathy type 2
DIS0QMLK: Neuronopathy, distal hereditary motor, type 2D
Disease Identifiers
MONDO ID
MONDO_0014259
UMLS CUI
C3888271
OMIM ID
615575
MedGen ID
854832

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
FBXO38 OTSZ3768 Strong Autosomal dominant [1]
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References

1 A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24.