Cataract 23, Multiple Types (CTRCT23)

Alias:
Cataract 23
Ctrct23
Lamellar Cataract 23
Cataract 23, Multiple Types, with or Without Microcornea
Microphthalmia, Isolated, with Cataract 4
Isolated Microphthalmia with Cataract 4
Cataract, Type 23
Mcopct4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cataract 23, Multiple Types, also known as cataract 23, is related to genetic atypical hemolytic-uremic syndrome and atypical hemolytic uremic syndrome with complement gene abnormality. An important gene associated with Cataract 23, Multiple Types is CRYBA4 (Crystallin Beta A4), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and Signal Transduction. Affiliated tissues include cortex and eye, and related phenotypes are lamellar cataract and nervous system
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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14
193
3

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
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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PMID
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IF
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