Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1)
Alias:
Mmds1
Nfu1 Deficiency
Mmds
Mitochondrial Dysfunctions Syndrome, Multiple, Type 1
Multiple Mitochondrial Dysfunctions Syndrome Type 1
Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Multiple Mitochondrial Dysfunctions Syndrome 1, also known as mmds1, is related to multiple mitochondrial dysfunctions syndrome 4 and multiple mitochondrial dysfunctions syndrome, and has symptoms including lethargy and weakness. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome 1 is NFU1 (NFU1 Iron-Sulfur Cluster Scaffold), and among its related pathways/superpathways are Metabolism and Glyoxylate metabolism and glycine degradation. Affiliated tissues include brain and prostate, and related phenotypes are respiratory insufficiency and myoclonus
Related ID:
Basic Information
Inheritance
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Reference
MALACARDS
AR
Newborn
<1/1000000
12
45
13
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No data available
Gene & Mutation
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