Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 (MLASA3)

Alias:
Mlasa3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3, also known as mlasa3, is related to sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay and cardiomyopathy, infantile hypertrophic. An important gene associated with Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane Subunit 6).
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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10
43
1

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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