Morgagni-Stewart-Morel syndrome
ORPHA:77296Malformation syndromeAutosomal dominant, X-linked recessiveAdult
Фенотипы (HPO)30
Облигатный (100%)1
HP:0004438Hyperostosis frontalis interna
Очень частый (80–99%)6
HP:0000707Abnormality of the nervous system
HP:0000708Atypical behavior
HP:0000818Abnormality of the endocrine system
HP:0001513Obesity
HP:0002315Headache
HP:0032245Abnormal metabolism
Частый (30–79%)4
HP:0000819Diabetes mellitus
HP:0001007Hirsutism
HP:0002076Migraine
HP:0002120Cerebral cortical atrophy
Периодический (5–29%)19
HP:0000716Depression
HP:0000725Psychotic episodes
HP:0000820Abnormality of the thyroid gland
HP:0000821Hypothyroidism
HP:0000822Hypertension
HP:0000939Osteoporosis
HP:0001061Acne
HP:0001250Seizure
HP:0001348Brisk reflexes
HP:0002149Hyperuricemia
HP:0002310Orofacial dyskinesia
HP:0002321Vertigo
HP:0002345Action tremor
HP:0002354Memory impairment
HP:0002758Osteoarthritis
HP:0003124Hypercholesterolemia
HP:0012444Brain atrophy
HP:0031589Suicidal ideation
HP:0100543Cognitive impairment
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)