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Start free with EleplanMitochondrial neurogastrointestinal encephalomyopathy
ORPHA:298Disease
Also called MNGIE
What it is
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Adolescent, Adult, Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
14Common30–79%
25- Abnormal cerebral white matter morphology
- Abnormality of the extraocular muscles
- Abnormality of the gastrointestinal tract
- Abnormality of the hand
- Abnormality of the mitochondrion
- Decreased motor nerve conduction velocity
- Decreased number of large peripheral myelinated nerve fibers
- Decreased sensory nerve conduction velocity
- Demyelinating peripheral neuropathy
- Diarrhea
- Distal muscle weakness
- Easy fatigability
- Elevated circulating hepatic transaminase concentration
- Foot dorsiflexor weakness
- Hyperalaninemia
- Increased CSF protein concentration
- Lactic acidosis
- Ophthalmoparesis
- Paresthesia
- Peripheral axonal neuropathy
- Peripheral neuropathy
- Ptosis
- Ragged-red muscle fibers
- Sensorineural hearing impairment
- Weight loss
Sometimes5–29%
8These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Benefit programs to look at
Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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