Multiple Mitochondrial Dysfunctions Syndrome (MMDS)

Alias:
Fatal Multiple Mitochondrial Dysfunction Syndrome
Multiple Mitochondrial Dysfunctions Syndrome 1
Mitochondrial Dysfunctions, Multiple, Syndrome
Multiple Mitochondrial Dysfunction Syndrome
Mmds
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Multiple Mitochondrial Dysfunctions Syndrome, also known as fatal multiple mitochondrial dysfunction syndrome, is related to multiple mitochondrial dysfunctions syndrome 4 and multiple mitochondrial dysfunctions syndrome 1, and has symptoms including lethargy and weakness. An important gene associated with Multiple Mitochondrial Dysfunctions Syndrome is ISCA1 (Iron-Sulfur Cluster Assembly 1), and among its related pathways/superpathways are Metabolism and Mitochondrial iron-sulfur cluster biogenesis. The drugs Dapagliflozin and Insulin have been mentioned in the context of this disorder. Affiliated tissues include brain and heart.
Related ID:
MESH:C565304

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
15
52
3

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Status
Phase
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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IF
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