← 返回搜尋
Adrenomyeloneuropathy
ORPHA:139399 · Clinical subtype · Subtype of disorder
HPO 表現型（共 49 項）
Very frequent (99-80%)(9)
- Abnormal circulating fatty acid concentrationHP:0004359
- Abnormal spinal cord morphologyHP:0002143
- Abnormality of peripheral nervous system electrophysiologyHP:0030177
- Axonal degenerationHP:0040078
- Distal lower limb muscle weaknessHP:0009053
- Distal sensory impairmentHP:0002936
- Impaired continenceHP:0031064
- Peripheral axonal degenerationHP:0000764
- Progressive spastic paraparesisHP:0007199
Frequent (79-30%)(26)
- Abnormal libidoHP:0031845
- Abnormal skin pigmentationHP:0001000
- Adrenocortical abnormalityHP:0000849
- Adrenocorticotropic hormone excessHP:0011749
- Atrophy of the spinal cordHP:0006827
- Atrophy/Degeneration involving the corticospinal tractsHP:0007372
- Babinski signHP:0003487
- Bowel incontinenceHP:0002607
- Brain imaging abnormalityHP:0410263
- Cerebral dysmyelinationHP:0007266
- Delayed somatosensory central conduction timeHP:0100291
- Dorsal column degenerationHP:0007006
- Erectile dysfunctionHP:0100639
- FatigueHP:0012378
- Female sexual dysfunctionHP:0030014
- Fine hairHP:0002213
- HyperreflexiaHP:0001347
- Intra-oral hyperpigmentationHP:0010284
- Leg muscle stiffnessHP:0008969
- Lip hyperpigmentationHP:0100816
- Male sexual dysfunctionHP:0040307
- Peripheral neuropathyHP:0009830
- Spastic gaitHP:0002064
- SpasticityHP:0001257
- Urinary bladder sphincter dysfunctionHP:0002839
- Very long chain fatty acid accumulationHP:0008167
Occasional (29-5%)(14)
- Adrenal insufficiencyHP:0000846
- Atypical behaviorHP:0000708
- Back painHP:0003418
- Cognitive impairmentHP:0100543
- Decreased circulating vitamin B12 concentrationHP:0100502
- DysarthriaHP:0001260
- DysesthesiaHP:0012534
- Frontal baldingHP:0002292
- Functional motor deficitHP:0004302
- Memory impairmentHP:0002354
- Primary adrenal insufficiencyHP:0008207
- Urinary incontinenceHP:0000020
- Urinary retentionHP:0000016
- Urinary urgencyHP:0000012