Microphthalmia, Isolated 2 (MCOP2)

Alias:
Isolated Microphthalmia 2
Mcop2
Anophthalmia, Clinical, Isolated
Microphthalmia, Isolated, Type 2
Isolated Clinical Anophthalmia
Microphthalmia, Isolated, 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microphthalmia, Isolated 2, also known as isolated microphthalmia 2, is related to microphthalmia, syndromic 9 and fryns microphthalmia syndrome. An important gene associated with Microphthalmia, Isolated 2 is VSX2 (Visual System Homeobox 2), and among its related pathways/superpathways are Gastrulation and Neurogenesis regulation in the olfactory epithelium. Affiliated tissues include eye and retina, and related phenotypes are opacification of the corneal stroma and microphthalmia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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11
191
17

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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Status
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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