KEGG DISEASE: Oculomotor-abducens synkinesis

KEGG

DISEASE: Oculomotor-abducens synkinesis

Entry

H02814                      Disease

Name

Oculomotor-abducens synkinesis

Description

Oculomotor-abducens synkinesis (OCABSN) is the involuntary movement of the eyes or eyelids with a voluntary attempt at another eye or facial movement. It has been reported that mutations in ACKR3 cause this disease. The chemokine receptor CXCR4 and its ligand CXCL12 regulate oculomotor nerve development. ACKR3 encodes an atypical chemokine receptor that binds CXCL12 and functions as a scavenger receptor, regulating levels of CXCL12 available for CXCR4 signaling.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Strabismus or ocular motility disorders
   9C81  Ocular motor nerve palsies
    H02814  Oculomotor-abducens synkinesis

Gene

ACKR3 [HSA:57007] [KO:K04304]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Whitman MC, Miyake N, Nguyen EH, Bell JL, Matos Ruiz PM, Chan WM, Di Gioia SA, Mukherjee N, Barry BJ, Bosley TM, Khan AO, Engle EC

Title

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.

Journal

Hum Mol Genet 28:3113-3125 (2019)
DOI:10.1093/hmg/ddz137

Reference

Authors

Whitman MC, Nguyen EH, Bell JL, Tenney AP, Gelber A, Engle EC

Title

Loss of CXCR4/CXCL12 Signaling Causes Oculomotor Nerve Misrouting and Development of Motor Trigeminal to Oculomotor Synkinesis.

Journal

Invest Ophthalmol Vis Sci 59:5201-5209 (2018)
DOI:10.1167/iovs.18-25190

LinkDB

» Japanese version

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