Coloboma, Ocular, Autosomal Dominant (COAD)

Alias:
Coloboma, Ocular
Coloboma of Iris, Choroid, and Retina
Coi
Chronic Obstructive Airway Disease
Coloboma of Choroid and Retina
Congenital Ocular Coloboma
Chorioretinal Coloboma
Coloboma, Uveoretinal
Uveoretinal Coloboma
Ocular Coloboma
Coad
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Coloboma, Ocular, Autosomal Dominant, also known as coloboma, ocular, is related to macs syndrome and coloboma of eye lens, and has symptoms including angina pectoris, coughing and snoring. An important gene associated with Coloboma, Ocular, Autosomal Dominant is PAX6 (Paired Box 6), and among its related pathways/superpathways are Nervous system development and Wnt / Hedgehog / Notch. The drugs Tiotropium and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and corneal opacity
Related ID:
MESH:D003103
ICD11:20223105

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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17
181
16

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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