Details of Disease

General Information of Disease (ID: DISHSV8Z)

Disease Name Neuroaxonal dystrophy
Definition
A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
Disease Hierarchy
DISM20FF: Neurodegenerative disease
DISHSV8Z: Neuroaxonal dystrophy
Disease Identifiers
MONDO ID
MONDO_0002283
MESH ID
D019150
UMLS CUI
C0338473
MedGen ID
90924
SNOMED CT ID
230365004

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
PLA2G6 OT5FL0WU Limited Genetic Variation [1]
ATG9A OTAZWZH7 Strong Biomarker [2]
TECPR2 OT1UFECZ Strong Biomarker [3]
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References

1 Phospholipase PLA2G6, a Parkinsonism-Associated Gene, Affects Vps26 and Vps35, Retromer Function, and Ceramide Levels, Similar to -Synuclein Gain.Cell Metab. 2018 Oct 2;28(4):605-618.e6. doi: 10.1016/j.cmet.2018.05.019. Epub 2018 Jun 14.
2 Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.PLoS Genet. 2018 Apr 26;14(4):e1007363. doi: 10.1371/journal.pgen.1007363. eCollection 2018 Apr.
3 TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs.PLoS One. 2015 Nov 10;10(11):e0141824. doi: 10.1371/journal.pone.0141824. eCollection 2015.