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ocular motor apraxia, Cogan type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ocular motor apraxia, Cogan type

MONDO:0009764

Also known as:oculomotor apraxia, Cogan typeoculomotor apraxia, congenital, Cogan-typeCOMA

Overview

Ocular motor apraxia, Cogan type is characterized by impairment of voluntary horizontal eye movements and compensatory head thrust. Around 50 cases have been described so far. The oculomotor manifestations tend to improve with age but the syndrome may also be associated with learning and speech difficulties, or, in some cases, cerebral malformations. Both sporadic and familial forms have been described, with sporadic forms being more frequent. The mode of transmission of the familial form has not yet been clearly established. A gene located on the long arm of chromosome 2, near to the NPHP1 gene involved in nephronophthisis, may be associated with ocular motor apraxia, Cogan type.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Oculomotor apraxia, Horizontal opticokinetic nystagmus, Nephronophthisis, and Jerky head movements.

Organ System	Phenotype Count	Example Features
Eyes	2	Oculomotor apraxia, Horizontal opticokinetic nystagmus
Kidneys and urinary system

Diagnosis

Biomarker and diagnostic research for ocular motor apraxia, Cogan type has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ocular motor apraxia, Cogan type.

10 publications have been identified in PubMed for ocular motor apraxia, Cogan type. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Patient case studies	5	50%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:257550

Orphanet

European rare disease database

Orphanet:1125

GARD

Genetic and Rare Diseases Info Center

GARD:16

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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ocular motor apraxia, Cogan type

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ocular motor apraxia, Cogan type

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications