Details of Disease | DrugMAP

General Information of Disease (ID: DIS5S2BC)

Disease Name	Axonal neuropathy
Synonyms	peripheral neuropathy of axon; axonal neuropathy; axon peripheral neuropathy
Definition	Any nerve disorder affecting the axon of a nerve.
Disease Hierarchy	DIS7KN5G: Peripheral neuropathy DIS5S2BC: Axonal neuropathy
Disease Identifiers	MONDO ID MONDO_0004183 UMLS CUI C1263857 MedGen ID 266071 HPO ID HP:0003477 SNOMED CT ID 128208007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KIF5A	TTCJPAH	Strong	Biomarker	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HINT1	DEWJATF	Definitive	Biomarker	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HADHB	OT4Y1I62	Limited	Genetic Variation	[3]
HARS2	OTC8X3H9	Limited	Genetic Variation	[4]
NDUFA9	OTMKQJJ8	Limited	Genetic Variation	[5]
NEFH	OTMSCW5I	Limited	Genetic Variation	[6]
RAB3GAP1	OT4DQ8F2	Limited	Genetic Variation	[7]
MFN2	OTPYN8A3	moderate	Genetic Variation	[8]
SPG11	OTZ7LJX4	moderate	Genetic Variation	[2]
GBF1	OTY1KEHY	Strong	Autosomal dominant	[9]
MAD2L1BP	OT2O2IUJ	Definitive	Genetic Variation	[8]
MED25	OTDBY87B	Definitive	Biomarker	[2]
------------------------------------------------------------------------------------


⏷ Show the Full List of 10 DOT(s)

References

1	A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.Neurol Sci. 2011 Aug;32(4):665-8. doi: 10.1007/s10072-010-0445-8. Epub 2010 Nov 24.
2	ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10.
3	Neuron-specific knockdown of Drosophila HADHB induces a shortened lifespan, deficient locomotive ability, abnormal motor neuron terminal morphology and learning disability.Exp Cell Res. 2019 Jun 15;379(2):150-158. doi: 10.1016/j.yexcr.2019.03.040. Epub 2019 Apr 3.
4	Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.Hum Mutat. 2018 Mar;39(3):415-432. doi: 10.1002/humu.23380. Epub 2017 Dec 26.
5	NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect.Clin Genet. 2018 Jan;93(1):111-118. doi: 10.1111/cge.13089. Epub 2017 Nov 21.
6	Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.J Peripher Nerv Syst. 2017 Sep;22(3):200-207. doi: 10.1111/jns.12223.
7	Neuronal vacuolation and spinocerebellar degeneration associated with altered neurotransmission.Folia Neuropathol. 2017;55(2):132-145. doi: 10.5114/fn.2017.68580.
8	Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.
9	De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 Oct 1;107(4):763-777. doi: 10.1016/j.ajhg.2020.08.018. Epub 2020 Sep 15.