Details of Disease

General Information of Disease (ID: DIS6JLTA)

• Disease Name: Autonomic nervous system disorder
• Synonyms: segmental autonomic dysfunctions; segmental autonomic dysfunction; nervous system diseases, sympathetic; nervous system diseases, autonomic; disorders of the autonomic nervous system; central autonomic nervous system diseases; autonomic nervous system disorders; autonomic dysfunctions, segmental; autonomic dysfunction, segmental; autonomic diseases; autonomic disease; autonomic central nervous system diseases; ANS diseases; ANS disease; ANS (autonomic nervous system) diseases; peripheral autonomic nervous system diseases; dysautonomia; autonomic peripheral nervous system diseases; disorder of the autonomic nervous system; disorder of peripheral autonomic nervous system; disorder of autonomic nervous system; disease or disorder of autonomic nervous system; disease of autonomic nervous system; autonomic nervous system disorder; autonomic nervous system disease or disorder; autonomic nervous system disease; autonomic nervous disease
• Definition: A disease involving the autonomic nervous system.|Editor note: We follow uberon and treat ANS as part of PNS. TODO - curate subtypes from http://neuromuscular.wustl.edu/autonomic.html
• Disease Hierarchy:
  DISWD40R: Disease
  DISEP2HK: Central and peripheral nervous disease
  DISRUHOW: Peripheral nervous system disorder
  DIS6JLTA: Autonomic nervous system disorder
• Disease Identifiers:
  MONDO ID: MONDO_0001292
  MESH ID: D001342
  UMLS CUI: C1145628
  MedGen ID: 218837
  SNOMED CT ID: 15241006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ECE1	TTQ9RYT	Limited	Biomarker	[1]
ELK3	TT5OJMV	moderate	Genetic Variation	[2]
EPHB1	TT8MDAC	moderate	Genetic Variation	[2]
SCN9A	TT4G2JS	moderate	Genetic Variation	[3]
SLC6A2	TTAWNKZ	moderate	Genetic Variation	[2]
TPO	TT52XDZ	moderate	Biomarker	[4]
ATXN3	TT6A17J	Strong	Genetic Variation	[5]
NPPC	TTRK0B9	Strong	Biomarker	[6]
TTR	TTPOYU7	Strong	Genetic Variation	[7]

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AAAS	OTJT9T23	moderate	Genetic Variation	[8]
LMNB1	OT100T3P	moderate	Genetic Variation	[9]
BPIFA2	OTLFSDZD	Strong	Biomarker	[10]
CASS4	OTGPIPUS	Strong	Biomarker	[11]
IGHMBP2	OTAZFPF5	Strong	Genetic Variation	[12]
PHOX2B	OT3SFR2O	Strong	Biomarker	[13]
PSPH	OTV1PVAX	Strong	Biomarker	[10]
PSPN	OT54LLZJ	Strong	Biomarker	[10]
RIDA	OTW4098I	Strong	Biomarker	[10]
SGCD	OTRBL3NQ	Strong	Genetic Variation	[14]
SNCB	OTELSEK6	Strong	Biomarker	[15]
SPTLC1	OTN0Z98K	Strong	Biomarker	[16]
STXBP3	OTTTYMAQ	Strong	Biomarker	[10]

References

• [1] A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.Am J Hum Genet. 1999 Jan;64(1):304-8. doi: 10.1086/302184.
• [2] Functional gene variation in the human norepinephrine transporter: association with attention deficit hyperactivity disorder.Ann N Y Acad Sci. 2008;1129:256-60. doi: 10.1196/annals.1417.023.
• [3] An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder.Muscle Nerve. 2014 Jan;49(1):134-8. doi: 10.1002/mus.23968. Epub 2013 Nov 22.
• [4] Quantitative autonomic function test in differentiation of multiple system atrophy from idiopathic Parkinson disease.Chin Med J (Engl). 2019 Aug 20;132(16):1919-1924. doi: 10.1097/CM9.0000000000000359.
• [5] The shortest expanded allele of the MJD1 gene in a Chinese MJD kindred with autonomic dysfunction. Eur Neurol. 2004;52(2):107-11. doi: 10.1159/000080221. Epub 2004 Aug 13.
• [6] Increased circulating bioactive C-type natriuretic peptide is associated with reduced heart rate variability in patients with chronic kidney disease.BMC Nephrol. 2018 Mar 5;19(1):50. doi: 10.1186/s12882-018-0843-3.
• [7] Characteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic review.Clin Auton Res. 2019 Sep;29(Suppl 1):1-9. doi: 10.1007/s10286-019-00630-y. Epub 2019 Aug 31.
• [8] Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome.Hum Mol Genet. 2019 Dec 1;28(23):3921-3927. doi: 10.1093/hmg/ddz236.
• [9] Adult-onset leukodystrophy: review of 3 clinicopathologic phenotypes and a proposed classification.J Neuropathol Exp Neurol. 2013 Nov;72(11):1090-103. doi: 10.1097/NEN.0000000000000008.
• [10] Coexistence of Progressive Supranuclear Palsy With Pontocerebellar Atrophy and Myotonic Dystrophy Type 1.J Neuropathol Exp Neurol. 2019 Aug 1;78(8):756-762. doi: 10.1093/jnen/nlz048.
• [11] Dysautonomia is associated with structural and functional alterations in Parkinson disease.Neurology. 2019 Mar 26;92(13):e1456-e1467. doi: 10.1212/WNL.0000000000007181. Epub 2019 Feb 22.
• [12] IGHMBP2 mutation associated with organ-specific autonomic dysfunction.Neuromuscul Disord. 2018 Dec;28(12):1012-1015. doi: 10.1016/j.nmd.2018.08.010. Epub 2018 Aug 29.
• [13] Rare occurrence of PHOX2b mutations in sporadic neuroblastomas.J Pediatr Hematol Oncol. 2008 Oct;30(10):728-32. doi: 10.1097/MPH.0b013e3181772141.
• [14] Autonomic, locomotor and cardiac abnormalities in a mouse model of muscular dystrophy: targeting the renin-angiotensin system.Exp Physiol. 2014 Apr;99(4):627-31. doi: 10.1113/expphysiol.2013.074336. Epub 2013 Dec 13.
• [15] REM sleep behavior disorder, autonomic dysfunction and synuclein-related neurodegeneration: where do we stand?.Clin Auton Res. 2018 Dec;28(6):519-533. doi: 10.1007/s10286-017-0460-4. Epub 2017 Sep 4.
• [16] Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain.Eur J Pain. 2011 Mar;15(3):223-30. doi: 10.1016/j.ejpain.2010.07.003. Epub 2010 Aug 7.