Marchiafava-Bignami disease
ORPHA:221074DiseaseAdult
Фенотипы (HPO)50
Очень частый (80–99%)4
HP:0001273Abnormal corpus callosum morphology
HP:0004395Malnutrition
HP:0030955Alcoholism
HP:0100503Low levels of vitamin B1
Частый (30–79%)11
HP:0001259Coma
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0002066Gait ataxia
HP:0002315Headache
HP:0002354Memory impairment
HP:0002509Limb hypertonia
HP:0007185Loss of consciousness
HP:0007305CNS demyelination
HP:0100543Cognitive impairment
HP:0100851Abnormal emotion/affect behavior
Периодический (5–29%)34
HP:0000020Urinary incontinence
HP:0000504Abnormality of vision
HP:0000602Ophthalmoplegia
HP:0000639Nystagmus
HP:0000651Diplopia
HP:0000708Atypical behavior
HP:0000709Psychosis
HP:0000716Depression
HP:0000718Aggressive behavior
HP:0000726Dementia
HP:0000741Apathy
HP:0000746Delusion
HP:0001250Seizure
HP:0001251Ataxia
HP:0001262Excessive daytime somnolence
HP:0001269Hemiparesis
HP:0001289Confusion
HP:0002013Vomiting
HP:0002063Rigidity
HP:0002134Abnormality of the basal ganglia
HP:0002186Apraxia
HP:0002273Tetraparesis
HP:0002300Mutism
HP:0002321Vertigo
HP:0002367Visual hallucinations
HP:0002381Aphasia
HP:0002476Primitive reflex
HP:0002922Increased CSF protein concentration
HP:0007256Abnormal pyramidal sign
HP:0010522Dyslexia
HP:0010526Dysgraphia
HP:0010628Facial palsy
HP:0030784Anomia
HP:0031258Delirium
Очень редкий (1–4%)1
HP:0001945Fever
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 250 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)