Adrenomyeloneuropathy
ORPHA:139399Clinical subtypeX-linked recessiveAdult
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)9
HP:0000764Peripheral axonal degeneration
HP:0002143Abnormality of the spinal cord
HP:0002936Distal sensory impairment
HP:0004359Abnormal circulating fatty-acid concentration
HP:0007199Progressive spastic paraparesis
HP:0009053Distal lower limb muscle weakness
HP:0030177Abnormality of peripheral nervous system electrophysiology
HP:0031064Impaired continence
HP:0040078Axonal degeneration
Частый (30–79%)26
HP:0000849Adrenocortical abnormality
HP:0001000Abnormality of skin pigmentation
HP:0001257Spasticity
HP:0001347Hyperreflexia
HP:0002064Spastic gait
HP:0002213Fine hair
HP:0002607Bowel incontinence
HP:0002839Urinary bladder sphincter dysfunction
HP:0003487Babinski sign
HP:0006827Atrophy of the spinal cord
HP:0007006Dorsal column degeneration
HP:0007266Cerebral dysmyelination
HP:0007372Atrophy/Degeneration involving the corticospinal tracts
HP:0008167Very long chain fatty acid accumulation
HP:0008969Leg muscle stiffness
HP:0009830Peripheral neuropathy
HP:0010284Intra-oral hyperpigmentation
HP:0011749Adrenocorticotropic hormone excess
HP:0012378Fatigue
HP:0030014Female sexual dysfunction
HP:0031845Abnormal libido
HP:0040307Male sexual dysfunction
HP:0100291Abnormality of central somatosensory evoked potentials
HP:0100639Erectile dysfunction
HP:0100816Lip hyperpigmentation
HP:0410263Brain imaging abnormality
Периодический (5–29%)14
HP:0000012Urinary urgency
HP:0000016Urinary retention
HP:0000020Urinary incontinence
HP:0000708Atypical behavior
HP:0000846Adrenal insufficiency
HP:0001260Dysarthria
HP:0002292Frontal balding
HP:0002354Memory impairment
HP:0003418Back pain
HP:0004302Functional motor deficit
HP:0008207Primary adrenal insufficiency
HP:0012534Dysesthesia
HP:0100502Decreased circulating vitamin B12 concentration
HP:0100543Cognitive impairment
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)