Malignant atrophic papulosis
ORPHA:679Clinical subtypeAutosomal dominantAdult
Фенотипы (HPO)34
Очень частый (80–99%)3
HP:0004334Dermal atrophy
HP:0100585Telangiectasia of the skin
HP:0200034Papule
Частый (30–79%)8
HP:0001824Weight loss
HP:0002017Nausea and vomiting
HP:0002027Abdominal pain
HP:0002239Gastrointestinal hemorrhage
HP:0005244Gastrointestinal infarctions
HP:0010547Muscle flaccidity
HP:0012378Fatigue
HP:0031368Intestinal perforation
Периодический (5–29%)23
HP:0000508Ptosis
HP:0000518Cataract
HP:0000587Abnormal optic nerve morphology
HP:0000651Diplopia
HP:0001250Seizure
HP:0001637Abnormal myocardium morphology
HP:0001658Myocardial infarction
HP:0001697Abnormal pericardium morphology
HP:0002076Migraine
HP:0002140Ischemic stroke
HP:0002202Pleural effusion
HP:0002321Vertigo
HP:0002586Peritonitis
HP:0002878Respiratory failure
HP:0004420Arterial thrombosis
HP:0006824Cranial nerve paralysis
HP:0007021Pain insensitivity
HP:0009830Peripheral neuropathy
HP:0010936Abnormality of the lower urinary tract
HP:0012089Arteritis
HP:0100576Amaurosis fugax
HP:0100749Chest pain
HP:0100819Intestinal fistula
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | 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)