Details of Disease

General Information of Disease (ID: DISI3WJ0)

Disease Name Autonomic neuropathy
Synonyms peripheral neuropathy of autonomic nervous system; autonomic peripheral neuropathy; autonomic nervous system peripheral neuropathy
Definition
An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities.
Disease Hierarchy
DIS6JLTA: Autonomic nervous system disorder
DIS7KN5G: Peripheral neuropathy
DISI3WJ0: Autonomic neuropathy
Disease Identifiers
MONDO ID
MONDO_0001300
UMLS CUI
C0259749
MedGen ID
82621
SNOMED CT ID
277879009

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
TTR TTPOYU7 moderate Biomarker [1]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DCLRE1B OT2LFW7A Strong Biomarker [2]
KIF1A OT3JVEGV Strong Genetic Variation [3]
RETREG1 OTYOSLZX Strong Genetic Variation [4]
ELP1 OTYEWBF7 Definitive Genetic Variation [5]
TECPR2 OT1UFECZ Definitive Genetic Variation [6]
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References

1 Familial amyloidosis with polyneuropathy type 1 caused by transthyretin mutation Val50Met (Val30Met): 4 cases in a non-endemic area.Neurologia (Engl Ed). 2018 Nov-Dec;33(9):583-589. doi: 10.1016/j.nrl.2016.07.009. Epub 2016 Oct 26.
2 Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis.J Neurol. 2020 Mar;267(3):703-712. doi: 10.1007/s00415-019-09602-8. Epub 2019 Nov 14.
3 Multigeneration family with dominant SPG30 hereditary spastic paraplegia.Ann Clin Transl Neurol. 2017 Oct 14;4(11):821-824. doi: 10.1002/acn3.452. eCollection 2017 Nov.
4 Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nat Genet. 2009 Nov;41(11):1179-81. doi: 10.1038/ng.464. Epub 2009 Oct 18.
5 Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.Am J Hum Genet. 2003 Mar;72(3):749-58. doi: 10.1086/368263. Epub 2003 Feb 6.
6 TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.Eur J Paediatr Neurol. 2016 Jan;20(1):69-79. doi: 10.1016/j.ejpn.2015.10.003. Epub 2015 Oct 22.