Details of Disease

General Information of Disease (ID: DIS1QSPO)

Disease Name Pathologic nystagmus
Definition Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders.
Disease Hierarchy
DISEEIHX: Ocular motility disease
DIS1QSPO: Pathologic nystagmus
Disease Identifiers
MONDO ID
MONDO_0004843
MESH ID
D009759
UMLS CUI
C0028738
MedGen ID
45166
HPO ID
HP:0000639
SNOMED CT ID
563001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 12 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJC2 TTPOCAL Limited Genetic Variation [1]
AHR TT037IE Strong Biomarker [2]
ATXN2 TTPQJ7P Strong Biomarker [3]
CNGA3 TTW0QOV Strong Genetic Variation [4]
GUCY2D TTWNFC2 Strong Genetic Variation [5]
HEXB TTKIBKM Strong Genetic Variation [6]
OPA1 TTTU49Q Strong Genetic Variation [7]
PRKCG TTRFOXJ Strong Genetic Variation [8]
PROM1 TTXMZ81 Strong Genetic Variation [9]
RPE65 TTBOH16 Strong Genetic Variation [5]
SLC25A1 TTTD730 Strong Biomarker [10]
TRPM1 TTTDAI9 Strong Biomarker [11]
------------------------------------------------------------------------------------
⏷ Show the Full List of 12 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC38A8 DT0UQDA moderate Genetic Variation [12]
SLC45A2 DTNCJAT moderate Genetic Variation [13]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
MANBA DEMH6UB Limited Genetic Variation [14]
------------------------------------------------------------------------------------
This Disease Is Related to 36 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PRPH2 OTNH2G5H moderate Genetic Variation [15]
RARS1 OTHPZ6JN moderate Genetic Variation [16]
RPGRIP1 OTABESO9 moderate Genetic Variation [17]
ABHD12 OTDP4F02 Strong CausalMutation [18]
ADGRB2 OTOCY7XY Strong Genetic Variation [19]
AFG3L2 OTRPMAUX Strong Biomarker [20]
ARID1B OTILK3Q7 Strong CausalMutation [21]
ATP2B3 OT9DIEOP Strong Genetic Variation [22]
ATXN1 OTQF0HNR Strong Biomarker [23]
CASK OT8EF7ZF Strong Genetic Variation [24]
CNNM4 OTUXJRM1 Strong Genetic Variation [25]
CRX OTH435SV Strong Genetic Variation [5]
DNASE1L3 OTEUIMC2 Strong Biomarker [26]
EXOC6B OTFI1IPG Strong Genetic Variation [27]
FRMD7 OTJ11849 Strong Genetic Variation [28]
GNB1 OTLL7L74 Strong CausalMutation [29]
GPR143 OTWUA2AV Strong Genetic Variation [30]
LAMB2 OT71OI2Y Strong Genetic Variation [31]
LCA5 OTQTCUWS Strong Genetic Variation [32]
LY6E OTMG16BZ Strong Biomarker [3]
MBNL3 OT2T2YOK Strong Biomarker [33]
ND1 OTCLGIXV Strong Biomarker [7]
ND6 OTG47B7B Strong Genetic Variation [7]
NINL OTWIK6HT Strong Biomarker [34]
NKX6-2 OT7FI94W Strong Genetic Variation [35]
NOX3 OT0FFJH8 Strong Biomarker [36]
PAX6 OTOC9876 Strong Genetic Variation [37]
PLA2G6 OT5FL0WU Strong Genetic Variation [38]
PLP1 OT8CM9CX Strong Genetic Variation [39]
POLD4 OTG578YH Strong Biomarker [40]
POLE4 OTCMWUT6 Strong Biomarker [40]
POLG OTDUCT04 Strong Genetic Variation [7]
RNF138 OTPU0CO4 Strong Altered Expression [41]
SAMD9 OTDG48P0 Strong Genetic Variation [42]
SAMD9L OTKEJUCI Strong Genetic Variation [42]
SPG7 OT8OY9ST Strong CausalMutation [43]
------------------------------------------------------------------------------------
⏷ Show the Full List of 36 DOT(s)

References

1 Gap junctions in inherited human disorders of the central nervous system.Biochim Biophys Acta. 2012 Aug;1818(8):2030-47. doi: 10.1016/j.bbamem.2011.08.015. Epub 2011 Aug 16.
2 Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.Brain. 2019 Jun 1;142(6):1528-1534. doi: 10.1093/brain/awz098.
3 Clinical evaluation of eye movements in spinocerebellar ataxias: a prospective multicenter study.J Neuroophthalmol. 2015 Mar;35(1):16-21. doi: 10.1097/WNO.0000000000000167.
4 Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).Eur J Neurosci. 2008 May;27(9):2391-401. doi: 10.1111/j.1460-9568.2008.06195.x.
5 Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis.Nat Genet. 2000 Jan;24(1):79-83. doi: 10.1038/71732.
6 Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.Eur J Paediatr Neurol. 2014 May;18(3):399-403. doi: 10.1016/j.ejpn.2014.02.002. Epub 2014 Feb 21.
7 Genetic aetiology of ophthalmological manifestations in children - a focus on mitochondrial disease-related symptoms.Acta Ophthalmol. 2016 Feb;94(1):83-91. doi: 10.1111/aos.12897. Epub 2015 Oct 8.
8 Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.Mov Disord. 2007 Jan 15;22(2):265-7. doi: 10.1002/mds.21269.
9 Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations.Ophthalmic Genet. 2015;36(4):349-52. doi: 10.3109/13816810.2014.886266. Epub 2014 Feb 18.
10 A nationwide multicenter study of the Cochlin tomo-protein detection test: clinical characteristics of perilymphatic fistula cases.Acta Otolaryngol. 2017;137(sup565):S53-S59. doi: 10.1080/00016489.2017.1300940. Epub 2017 Apr 3.
11 Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.JAMA Ophthalmol. 2018 Apr 1;136(4):389-398. doi: 10.1001/jamaophthalmol.2018.0185.
12 Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. Eur J Hum Genet. 2014 May;22(5):703-6. doi: 10.1038/ejhg.2013.212. Epub 2013 Sep 18.
13 SLC45A2 mutation frequency in Oculocutaneous Albinism Italian patients doesn't differ from other European studies. Gene. 2014 Jan 1;533(1):398-402. doi: 10.1016/j.gene.2013.09.053. Epub 2013 Oct 3.
14 The structure of mammalian -mannosidase provides insight into -mannosidosis and nystagmus.FEBS J. 2019 Apr;286(7):1319-1331. doi: 10.1111/febs.14731. Epub 2019 Jan 3.
15 Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation. Br J Ophthalmol. 2016 Feb;100(2):209-15. doi: 10.1136/bjophthalmol-2015-306844. Epub 2015 Jun 10.
16 RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.Ann Clin Transl Neurol. 2020 Jan;7(1):83-93. doi: 10.1002/acn3.50960. Epub 2019 Dec 8.
17 Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am J Hum Genet. 2001 May;68(5):1295-8. doi: 10.1086/320113. Epub 2001 Mar 29.
18 Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.J Neurol Sci. 2018 Apr 15;387:134-138. doi: 10.1016/j.jns.2018.02.021. Epub 2018 Feb 7.
19 A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.Hum Mutat. 2017 Dec;38(12):1751-1760. doi: 10.1002/humu.23336. Epub 2017 Sep 20.
20 A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.J Mol Neurosci. 2014 Apr;52(4):493-6. doi: 10.1007/s12031-013-0187-1. Epub 2013 Nov 29.
21 Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30.
22 A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect.Biochim Biophys Acta Mol Basis Dis. 2017 Dec;1863(12):3303-3312. doi: 10.1016/j.bbadis.2017.08.006. Epub 2017 Aug 12.
23 Frequency analysis and clinical characterization of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients.Arch Neurol. 2003 Jun;60(6):858-63. doi: 10.1001/archneur.60.6.858.
24 A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.Am J Med Genet A. 2017 Mar;173(3):611-617. doi: 10.1002/ajmg.a.38069. Epub 2017 Jan 31.
25 A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.Eye (Lond). 2016 Nov;30(11):1424-1432. doi: 10.1038/eye.2016.137. Epub 2016 Jul 15.
26 Lysosomal storage disease in the brain: mutations of the -mannosidase gene identified in autosomal dominant nystagmus.Genet Med. 2015 Dec;17(12):971-9. doi: 10.1038/gim.2015.10. Epub 2015 Mar 5.
27 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.Am J Med Genet A. 2014 Dec;164A(12):3088-94. doi: 10.1002/ajmg.a.36770. Epub 2014 Sep 24.
28 A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus.J Mol Neurosci. 2019 Mar;67(3):418-423. doi: 10.1007/s12031-018-1245-5. Epub 2019 Jan 8.
29 Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21.
30 GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.Sci Rep. 2015 Jul 10;5:12031. doi: 10.1038/srep12031.
31 The first Chinese Pierson syndrome with novel mutations in LAMB2.Nephrol Dial Transplant. 2010 Mar;25(3):776-8. doi: 10.1093/ndt/gfp563. Epub 2009 Oct 26.
32 Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.Ophthalmology. 2014 Jan;121(1):399-407. doi: 10.1016/j.ophtha.2013.08.028. Epub 2013 Oct 18.
33 Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.Mol Vis. 2006 Oct 18;12:1211-6.
34 Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene.Graefes Arch Clin Exp Ophthalmol. 2006 Sep;244(9):1104-12. doi: 10.1007/s00417-005-0096-2. Epub 2006 Feb 28.
35 Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17.
36 Mouse Magnetic-field Nystagmus in Strong Static Magnetic Fields Is Dependent on the Presence of Nox3.Otol Neurotol. 2018 Dec;39(10):e1150-e1159. doi: 10.1097/MAO.0000000000002024.
37 A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus.Genet Mol Res. 2014 Oct 27;13(4):8679-85. doi: 10.4238/2014.October.27.8.
38 Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report.Brain Dev. 2015 Feb;37(2):270-2. doi: 10.1016/j.braindev.2014.04.010. Epub 2014 May 5.
39 Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.J Neurol. 2014 Apr;261(4):752-8. doi: 10.1007/s00415-014-7263-5. Epub 2014 Feb 16.
40 Vestibular cerebellar evoked potentials in humans and their modulation during optokinetic stimulation.J Neurophysiol. 2018 Dec 1;120(6):3099-3109. doi: 10.1152/jn.00502.2018. Epub 2018 Oct 17.
41 Ubiquitin Ligase RNF138 Promotes Episodic Ataxia Type 2-Associated Aberrant Degradation of Human Ca(v)2.1 (P/Q-Type) Calcium Channels.J Neurosci. 2017 Mar 1;37(9):2485-2503. doi: 10.1523/JNEUROSCI.3070-16.2017. Epub 2017 Feb 6.
42 SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.Leukemia. 2018 May;32(5):1106-1115. doi: 10.1038/s41375-018-0074-4. Epub 2018 Feb 25.
43 SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases.Eur J Hum Genet. 2016 Jul;24(7):1016-21. doi: 10.1038/ejhg.2015.240. Epub 2015 Dec 2.