Details of Disease

General Information of Disease (ID: DISEEIHX)

Disease Name Ocular motility disease
Synonyms eye movement disorder; disorder of eye movements
Disease Hierarchy
DIS2J1QW: Cranial nerve neuropathy
DISEEIHX: Ocular motility disease
Disease Identifiers
MONDO ID
MONDO_0001584
MESH ID
D015835
UMLS CUI
C0028850
MedGen ID
14457
SNOMED CT ID
45030009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADCY5 TTN64VU Limited Biomarker [1]
CACNA1A TTX4QDJ Strong Genetic Variation [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CHN1 OTM196M3 Limited Genetic Variation [3]
KIF21A OT511XD9 Strong Genetic Variation [4]
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References

1 Oculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease.Parkinsonism Relat Disord. 2018 Sep;54:103-106. doi: 10.1016/j.parkreldis.2018.04.011. Epub 2018 Apr 10.
2 Eye movement disorders are an early manifestation of CACNA1A mutations in children.Dev Med Child Neurol. 2016 Jun;58(6):639-44. doi: 10.1111/dmcn.13033. Epub 2016 Jan 27.
3 Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.Graefes Arch Clin Exp Ophthalmol. 2010 Sep;248(9):1351-7. doi: 10.1007/s00417-010-1417-7. Epub 2010 Jun 10.
4 Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.Neuron. 2014 Apr 16;82(2):334-49. doi: 10.1016/j.neuron.2014.02.038. Epub 2014 Mar 20.