Combined Oxidative Phosphorylation Deficiency 19 (COXPD19)

Alias:
Coxpd19
Severe Neonatal Lactic Acidosis Due to Nfs1-Isd11 Complex Deficiency
Combined Oxidative Phosphorylation Deficiency, Type 19
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Combined Oxidative Phosphorylation Deficiency 19, also known as coxpd19, is related to wolfram syndrome 2 and sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay, and has symptoms including respiratory distress An important gene associated with Combined Oxidative Phosphorylation Deficiency 19 is LYRM4 (LYR Motif Containing 4), and among its related pathways/superpathways are Metabolism and Mitochondrial iron-sulfur cluster biogenesis. Affiliated tissues include liver and brain, and related phenotypes are failure to thrive and lactic acidosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
14
57
1

Medical Symptom

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Gene & Mutation

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References Literature

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