Cataract 38 (CTRCT38)

Alias:
Ctrct38
Catc5
Autosomal Recessive Congenital Cataract 5
Cataract, Autosomal Recessive Congenital 5
Cataract 38, Autosomal Recessive
Cataract, Type 38
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cataract 38, also known as ctrct38, is related to pachyonychia congenita 1 and mitochondrial dna depletion syndrome. An important gene associated with Cataract 38 is AGK (Acylglycerol Kinase), and among its related pathways/superpathways are Metabolism and Neural Stem Cells and Lineage-specific Markers. Affiliated tissues include eye, and related phenotypes are developmental cataract and behavior/neurological
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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
105
8

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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PMID
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IF
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