Details of Disease

General Information of Disease (ID: DIS6XNI0)

Disease Name Hereditary motor neuron disease
Synonyms hereditary motor neuron disease; genetic motor neuron disease; genetic anterior horn cell disease
Definition An instance of motor neuron disease that is caused by an inherited modification of the individual's genome.
Disease Hierarchy
DISLG2RO: Hereditary neuromuscular disease
DISPN7D2: Inherited neurodegenerative disorder
DISUHWUI: Motor neurone disease
DIS6XNI0: Hereditary motor neuron disease
Disease Identifiers
MONDO ID
MONDO_0024257
MESH ID
D016472
UMLS CUI
C0270763
MedGen ID
78728
Orphanet ID
98505
SNOMED CT ID
49793008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PNPLA6 TTWAQU2 Limited Biomarker [1]
SOD1 TTP9K3Q Strong Genetic Variation [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DCTN1 OT5B51FJ Strong Genetic Variation [3]
KLC1 OTSTTTW7 Strong Genetic Variation [4]
PRDX3 OTLB2WEU Strong Biomarker [5]
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References

1 Motor neuron disease due to neuropathy target esterase mutation: enzyme analysis of fibroblasts from human subjects yields insights into pathogenesis.Toxicol Lett. 2010 Nov 10;199(1):1-5. doi: 10.1016/j.toxlet.2010.06.020. Epub 2010 Sep 17.
2 Hereditary motor neuron disease in a large Norwegian family with a "H46R" substitution in the superoxide dismutase 1 gene.Neuromuscul Disord. 2012 Jun;22(6):511-21. doi: 10.1016/j.nmd.2012.01.011. Epub 2012 Apr 2.
3 DCTN1 p.K56R in progressive supranuclear palsy.Parkinsonism Relat Disord. 2016 Jul;28:56-61. doi: 10.1016/j.parkreldis.2016.04.025. Epub 2016 Apr 23.
4 The kinesin light chain gene: its mapping and exclusion in mouse and human forms of inherited motor neuron degeneration.Neurosci Lett. 1999 Sep 24;273(1):49-52. doi: 10.1016/s0304-3940(99)00620-5.
5 Impairment of mitochondrial anti-oxidant defence in SOD1-related motor neuron injury and amelioration by ebselen. Brain. 2006 Jul;129(Pt 7):1693-709. doi: 10.1093/brain/awl118. Epub 2006 May 15.