Details of Disease

General Information of Disease (ID: DISMYF5H)

Disease Name	Acquired nystagmus
Synonyms	nystagmus; motor congenital nystagmus; congenital idiopathic nystagmus; congenital pathologic nystagmus; nystagmus, congenital
Disease Class	9C84: Nystagmus
Definition	Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)
Disease Hierarchy	DIS1QSPO: Pathologic nystagmus DIS2BIP8: Congenital nervous system disorder DISD715V: Hereditary neurological disease DISMYF5H: Acquired nystagmus
ICD Code	ICD-11 ICD-11: 9C84 ICD-10 ICD-10: H55-H59, H55 ICD-9 ICD-9: 379.5 Expand ICD-9 379.5
Disease Identifiers	MONDO ID MONDO_0005712 UMLS CUI C0700501 MedGen ID 195995 HPO ID HP:0006934 SNOMED CT ID 64635004

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Tridihexethyl	DMVLHNI	Approved	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AHR	TT037IE	Strong	Biomarker	[2]
GJA8	TTJ7ATH	Strong	Genetic Variation	[3]
GJC2	TTPOCAL	Strong	Genetic Variation	[4]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CASK	OT8EF7ZF	Limited	Genetic Variation	[5]
FRMD7	OTJ11849	Limited	Biomarker	[6]
ATF6	OTAFHAVI	Strong	Biomarker	[7]
GPR143	OTWUA2AV	Strong	Genetic Variation	[8]
PAX6	OTOC9876	Strong	Biomarker	[9]
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References

1	FDA Approved Drug Products from FDA Official Website. 2009. Application Number: (NDA) 009489.
2	Oculomotor deficits in aryl hydrocarbon receptor null mouse.PLoS One. 2013;8(1):e53520. doi: 10.1371/journal.pone.0053520. Epub 2013 Jan 3.
3	X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.BMC Med Genet. 2019 Mar 19;20(1):41. doi: 10.1186/s12881-019-0780-4.
4	Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form. Eur J Hum Genet. 2013 Jan;21(1):34-9. doi: 10.1038/ejhg.2012.93. Epub 2012 Jun 6.
5	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.
6	Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.Ophthalmic Genet. 2019 Apr;40(2):161-164. doi: 10.1080/13816810.2019.1592201. Epub 2019 Apr 3.
7	Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1.
8	A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.Mol Vis. 2009;15:810-4. Epub 2009 Apr 22.
9	A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation.Gene. 2019 Jul 15;705:177-180. doi: 10.1016/j.gene.2019.04.035. Epub 2019 Apr 12.