mitochondrial neurogastrointestinal encephalomyopathy
Findings
No curated finding names mitochondrial neurogastrointestinal encephalomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.
Definition from the Mondo Disease Ontology (MONDO:0017575), read 2026-09-29. CC BY 4.0.
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal distentionHPOHP:0003270
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Very frequent (80% to 99% of cases)
- Atrophic muscularis propriaHPOHP:0025149
- Very frequent (80% to 99% of cases)
- CachexiaHPOHP:0004326
- Very frequent (80% to 99% of cases)
- DysphagiaHPOHP:0002015
- Very frequent (80% to 99% of cases)
- External ophthalmoplegiaHPOHP:0000544
- Very frequent (80% to 99% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Very frequent (80% to 99% of cases)
- Gastrointestinal dysmotilityHPOHP:0002579
- Very frequent (80% to 99% of cases)
- LeukoencephalopathyHPOHP:0002352
- Very frequent (80% to 99% of cases)
- NauseaHPOHP:0002018
- Very frequent (80% to 99% of cases)
- Poor appetiteHPOHP:0004396
- Very frequent (80% to 99% of cases)
- Sensorimotor neuropathyHPOHP:0007141
- Very frequent (80% to 99% of cases)
Show the remaining 36
- Small intestinal dysmotilityHPOHP:0012850
- Very frequent (80% to 99% of cases)
- VomitingHPOHP:0002013
- Very frequent (80% to 99% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Frequent (30% to 79% of cases)
- Abnormality of the extraocular musclesHPOHP:0008049
- Frequent (30% to 79% of cases)
- Abnormality of the gastrointestinal tractHPOHP:0011024
- Frequent (30% to 79% of cases)
- Abnormality of the handHPOHP:0001155
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
3 names
Resolves to: mitochondrial neurogastrointestinal encephalomyopathy
- Also called
- Mitochondrial Neurogastrointestinal Encephalopathymitochondrial Neurogastrointestingal encephalopathyMNGIE