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MCID: MTC025
MIFTS: 20
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Mitochondrial Myopathy with Diabetes
Categories:
Rare diseases, Neuronal diseases, Metabolic diseases, Endocrine diseases
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MalaCards integrated aliases for Mitochondrial Myopathy with Diabetes:
Characteristics:OMIM:53
Inheritance:
mitochondrial
Miscellaneous:
highly variable clinical phenotype variable age at onset (birth to adult) HPO:31
mitochondrial myopathy with diabetes:
Onset and clinical course phenotypic variability Inheritance mitochondrial inheritance Classifications:
MalaCards categories:
Global: Rare diseases Metabolic diseases Anatomical: Neuronal diseases Endocrine diseases |
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MalaCards based summary
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Mitochondrial Myopathy with Diabetes, also known as mitochondrial myopathy, lipid type, is related to diabetes mellitus and myopathy, and has symptoms including ataxia, dysarthria and facial palsy. An important gene associated with Mitochondrial Myopathy with Diabetes is MT-TE (Mitochondrially Encoded TRNA Glutamic Acid).
Description from OMIM:
500002
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Diseases related to Mitochondrial Myopathy with Diabetes via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:500002Human phenotypes related to Mitochondrial Myopathy with Diabetes:31 (show all 15)
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Genetic tests related to Mitochondrial Myopathy with Diabetes:
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Articles related to Mitochondrial Myopathy with Diabetes:
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Genes related to Mitochondrial Myopathy with Diabetes (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Mitochondrial Myopathy with Diabetes:6
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Search
GEO
for disease gene expression data for Mitochondrial Myopathy with Diabetes.
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