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Mitochondrial DNA depletion syndrome 1

Synonyms
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED; MNGIE, TYMP-RELATED; Mitochondrial DNA Depletion Syndrome, MNGIE Form; Mitochondrial DNA depletion syndrome 1 (MNGIE type); Mitochondrial Neurogastrointestinal Encephalopathy Disease; Mitochondrial neurogastrointestinal encephalomyopathy syndrome; POLIP SYNDROME; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION

Summary

Excerpted from the GeneReview: Mitochondrial Neurogastrointestinal Encephalopathy Disease
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Michio Hirano
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Available tests

107 tests are in the database for this condition.

Clinical tests (107 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE, POLG
    Summary: DNA polymerase gamma, catalytic subunit

  • Also known as: ECGF, ECGF1, MEDPS1, MNGIE, MTDPS1, PDECGF, TP, hPD-ECGF, TYMP
    Summary: thymidine phosphorylase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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