Mitochondrial neurogastrointestinal encephalomyopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MNGIE |
| Number of Symptoms | 27 |
| OrphanetNr: | 298 |
| OMIM Id: |
603041
612075 613662 |
| ICD-10: |
G71.3 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 0.1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of pyrimidine metabolism
-Rare genetic disease Metabolic disease with intestinal involvement -Rare gastroenterologic disease -Rare genetic disease Mitochondrial DNA depletion syndrome -Rare developmental defect during embryogenesis -Rare eye disease -Rare gastroenterologic disease -Rare genetic disease -Rare neurologic disease Mitochondrial disease with epilepsy -Rare neurologic disease Mitochondrial disease with eye involvement -Rare eye disease -Rare genetic disease Mitochondrial disease with peripheral neuropathy -Rare genetic disease -Rare neurologic disease Mitochondrial myopathy -Rare genetic disease -Rare neurologic disease Ptosis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000590) | Progressive external ophthalmoplegia | 23 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0002936) | Distal sensory impairment | 96 / 7739 | ||||
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(HPO:0001284) | Areflexia | 198 / 7739 | ||||
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(HPO:0002019) | Constipation | 194 / 7739 | ||||
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(HPO:0004395) | Malnutrition | 12 / 7739 | ||||
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(HPO:0002027) | Abdominal pain | 184 / 7739 | ||||
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(HPO:0002024) | Malabsorption | 142 / 7739 | ||||
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(HPO:0002013) | Vomiting | 191 / 7739 | ||||
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(HPO:0002254) | Intermittent diarrhea | 5 / 7739 | ||||
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(HPO:0002578) | Gastroparesis | 11 / 7739 | ||||
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(HPO:0002579) | Gastrointestinal dysmotility | 11 / 7739 | ||||
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(HPO:0004326) | Cachexia | 71 / 7739 | ||||
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(HPO:0003128) | Lactic acidosis | 116 / 7739 | ||||
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(HPO:0002460) | Distal muscle weakness | 122 / 7739 | ||||
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(HPO:0003200) | Ragged-red muscle fibers | 37 / 7739 | ||||
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(HPO:0003548) | Subsarcolemmal accumulations of abnormally shaped mitochondria | 9 / 7739 | ||||
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(HPO:0003737) | Mitochondrial myopathy | 18 / 7739 | ||||
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(HPO:0003689) | Multiple mitochondrial DNA deletions | 12 / 7739 | ||||
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(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
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(HPO:0003688) | Decreased activity of cytochrome C oxidase in muscle tissue | 20 / 7739 | ||||
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(HPO:0007103) | Hypointensity of cerebral white matter on MRI | 3 / 7739 | ||||
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(HPO:0003676) | Progressive disorder | 148 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0100613) | Death in early adulthood | 10 / 7739 | ||||
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(HPO:0002352) | Leukoencephalopathy | 32 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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