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Mitochondrial neurogastrointestinal encephalomyopathy
ORPHA:298 · Disease · Disorder
HPO 表現型（共 48 項）
Very frequent (99-80%)(14)
- Abdominal distentionHP:0003270
- Abdominal painHP:0002027
- Atrophic muscularis propriaHP:0025149
- CachexiaHP:0004326
- DysphagiaHP:0002015
- External ophthalmoplegiaHP:0000544
- Gastroesophageal refluxHP:0002020
- Gastrointestinal dysmotilityHP:0002579
- LeukoencephalopathyHP:0002352
- NauseaHP:0002018
- Poor appetiteHP:0004396
- Sensorimotor neuropathyHP:0007141
- Small intestinal dysmotilityHP:0012850
- VomitingHP:0002013
Frequent (79-30%)(25)
- Abnormal cerebral white matter morphologyHP:0002500
- Abnormality of the extraocular musclesHP:0008049
- Abnormality of the gastrointestinal tractHP:0011024
- Abnormality of the handHP:0001155
- Abnormality of the mitochondrionHP:0012103
- Decreased motor nerve conduction velocityHP:0003431
- Decreased number of large peripheral myelinated nerve fibersHP:0003387
- Decreased sensory nerve conduction velocityHP:0003448
- Demyelinating peripheral neuropathyHP:0007108
- DiarrheaHP:0002014
- Distal muscle weaknessHP:0002460
- Easy fatigabilityHP:0003388
- Elevated circulating hepatic transaminase concentrationHP:0002910
- Foot dorsiflexor weaknessHP:0009027
- HyperalaninemiaHP:0003348
- Increased CSF protein concentrationHP:0002922
- Lactic acidosisHP:0003128
- OphthalmoparesisHP:0000597
- ParesthesiaHP:0003401
- Peripheral axonal neuropathyHP:0003477
- Peripheral neuropathyHP:0009830
- PtosisHP:0000508
- Ragged-red muscle fibersHP:0003200
- Sensorineural hearing impairmentHP:0000407
- Weight lossHP:0001824
Occasional (29-5%)(8)
- Abnormal cell morphologyHP:0025461
- AnemiaHP:0001903
- CirrhosisHP:0001394
- Decreased muscle massHP:0003199
- Hypergonadotropic hypogonadismHP:0000815
- Hypogonadotropic hypogonadismHP:0000044
- Intellectual disabilityHP:0001249
- Macrovesicular hepatic steatosisHP:0001403
Very rare (<4-1%)(1)
- DementiaHP:0000726