Details of Disease

Disease Name

Dysautonomia

dysautonomia

Definition

An acute or chronic disorder, affecting the sympathetic or parasympathetic nervous system. It can be primary, the result of central nervous system degeneration, or secondary due to diabetes or alcoholism. Patients with the chronic form of this disorder usually have a progressive clinical course and a poor prognosis.

Disease Hierarchy

DIS6JLTA: Autonomic nervous system disorder

DISF4MT6: Dysautonomia

Disease Identifiers

MONDO ID

MONDO_0044872

MESH ID

D054969

UMLS CUI

C0013363

MedGen ID

8511

HPO ID

HP:0012332

General Information of Disease (ID: DISF4MT6)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TPO	TT52XDZ	moderate	Biomarker	[1]
ATXN3	TT6A17J	Strong	Genetic Variation	[2]
FGF10	TTNPEFX	Strong	Biomarker	[3]
GLA	TTIS03D	Strong	Genetic Variation	[4]
NPPC	TTRK0B9	Strong	Biomarker	[5]
SCN9A	TT4G2JS	Strong	Biomarker	[6]
TPSAB1	TTM1TDX	Strong	Biomarker	[7]
KIF5A	TTCJPAH	Definitive	Genetic Variation	[8]
LRRK2	TTK0FEA	Definitive	Genetic Variation	[9]
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⏷ Show the Full List of 9 DTT(s)

This Disease Is Related to 22 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHOX2B	OT3SFR2O	Limited	Genetic Variation	[10]
LMNB1	OT100T3P	moderate	Genetic Variation	[11]
AAAS	OTJT9T23	Strong	Genetic Variation	[12]
BPIFA2	OTLFSDZD	Strong	Biomarker	[13]
CASS4	OTGPIPUS	Strong	Biomarker	[14]
CHRNA3	OTCZQY1U	Strong	Genetic Variation	[15]
IGHMBP2	OTAZFPF5	Strong	Genetic Variation	[16]
P4HTM	OTKELL7F	Strong	Biomarker	[17]
PINK1	OT50NR57	Strong	Biomarker	[18]
PSPH	OTV1PVAX	Strong	Biomarker	[13]
PSPN	OT54LLZJ	Strong	Biomarker	[13]
RIDA	OTW4098I	Strong	Biomarker	[13]
SGCD	OTRBL3NQ	Strong	Genetic Variation	[19]
SNCB	OTELSEK6	Strong	Biomarker	[20]
SPTLC1	OTN0Z98K	Strong	Biomarker	[21]
STXBP3	OTTTYMAQ	Strong	Biomarker	[13]
TCF4	OTB9ASTK	Strong	Genetic Variation	[22]
ALX3	OTXZ25PZ	Definitive	Biomarker	[23]
ATL1	OTR2788Y	Definitive	Genetic Variation	[24]
ELP1	OTYEWBF7	Definitive	Altered Expression	[25]
RAMP1	OT7UT2XB	Definitive	Biomarker	[26]
RMND1	OT7I6RBT	Definitive	Genetic Variation	[27]
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⏷ Show the Full List of 22 DOT(s)

References

1	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.
2	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.
3	Hereditary disorders affecting the lacrimal system.Curr Opin Ophthalmol. 2014 Sep;25(5):424-31. doi: 10.1097/ICU.0000000000000092.
4	Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.Neuromuscul Disord. 2014 Mar;24(3):272-6. doi: 10.1016/j.nmd.2013.11.006. Epub 2013 Nov 19.
5	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.
6	Autonomic dysfunction in SCN9A-associated primary erythromelalgia.Clin Auton Res. 2013 Apr;23(2):105-7. doi: 10.1007/s10286-012-0181-7. Epub 2012 Nov 15.
7	Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.Nat Genet. 2016 Dec;48(12):1564-1569. doi: 10.1038/ng.3696. Epub 2016 Oct 17.
8	Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.Eur J Neurol. 2013 Feb;20(2):398-401. doi: 10.1111/j.1468-1331.2012.03803.x. Epub 2012 Jul 12.
9	Clinical profiles associated with LRRK2 and GBA mutations in Brazilians with Parkinson's disease.J Neurol Sci. 2017 Oct 15;381:160-164. doi: 10.1016/j.jns.2017.08.3249. Epub 2017 Aug 24.
10	Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.Am J Med Genet A. 2018 Jul;176(7):1627-1631. doi: 10.1002/ajmg.a.38720. Epub 2018 Apr 28.
11	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.
12	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.
13	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.
14	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.
15	CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.Am J Hum Genet. 2019 Dec 5;105(6):1286-1293. doi: 10.1016/j.ajhg.2019.10.004. Epub 2019 Nov 7.
16	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.
17	Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.Eur J Med Genet. 2014 Oct;57(10):543-51. doi: 10.1016/j.ejmg.2014.07.002. Epub 2014 Jul 29.
18	Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease.Parkinsonism Relat Disord. 2009 Dec;15(10):721-7. doi: 10.1016/j.parkreldis.2009.09.010. Epub 2009 Oct 7.
19	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.
20	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.
21	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.
22	Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.Am J Hum Genet. 2007 May;80(5):988-93. doi: 10.1086/515582. Epub 2007 Mar 23.
23	Processing of Emotion in Functional Neurological Disorder.Front Psychiatry. 2018 Oct 5;9:479. doi: 10.3389/fpsyt.2018.00479. eCollection 2018.
24	Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia.Auton Neurosci. 2014 Oct;185:141-3. doi: 10.1016/j.autneu.2014.06.001. Epub 2014 Jun 9.
25	Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients.Auton Neurosci. 2014 Feb;180:59-65. doi: 10.1016/j.autneu.2013.10.009. Epub 2013 Nov 1.
26	Increased receptor activity-modifying protein 1 in the nervous system is sufficient to protect against autonomic dysregulation and hypertension.J Cereb Blood Flow Metab. 2019 Apr;39(4):690-703. doi: 10.1177/0271678X17751352. Epub 2018 Jan 3.
27	RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.Eur J Hum Genet. 2015 Oct;23(10):1301-7. doi: 10.1038/ejhg.2014.293. Epub 2015 Jan 21.