Carbonic Anhydrase Va Deficiency

Alias:
Ca-Va Deficiency
Hyperammonemic Encephalopathy Due to Carbonic Anhydrase Va Deficiency
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to
Hyperammonemia Due to Carbonic Anhydrase Va Deficiency
Mitochondrial Carbonic Anhydrase Va Deficiency
Ca5ad
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Carbonic Anhydrase Va Deficiency, also known as ca-va deficiency, is related to carbonic anhydrase va deficiency, hyperammonemia due to and hyperammonemic encephalopathy due to carbonic anhydrase va deficiency, and has symptoms including lethargy An important gene associated with Carbonic Anhydrase Va Deficiency is CA5A (Carbonic Anhydrase 5A), and among its related pathways/superpathways is Reversible hydration of carbon dioxide. Affiliated tissues include liver and brain.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
2
9
9

Medical Symptom

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Description
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Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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