Microphthalmia, Isolated 6 (MCOP6)

Alias:
Isolated Microphthalmia 6
Mcop6
Autosomal Recessive Posterior Microphthalmos
Microphthalmia, Posterior Nonsyndromic
Posterior Non-Syndromic Microphthalmia
Posterior Nonsyndromic Microphthalmia
Microphthalmia, Isolated, Type 6
Microphthalmia, Isolated, 6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microphthalmia, Isolated 6, also known as isolated microphthalmia 6, is related to microphthalmia and nanophthalmos. An important gene associated with Microphthalmia, Isolated 6 is PRSS56 (Serine Protease 56), and among its related pathways/superpathways is Kallmann syndrome. Affiliated tissues include eye, and related phenotypes are microcornea and microphthalmia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
10
65
12

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
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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PMID
Journal
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IF
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