Hypocomplementemic urticarial vasculitis
ORPHA:36412DiseaseAutosomal recessive, Not applicableAdult, Childhood
Ассоциированные гены1
Фенотипы (HPO)47
Очень частый (80–99%)4
HP:0000988Skin rash
HP:0000989Pruritus
HP:0004431Complement deficiency
HP:0011944Small vessel vasculitis
Частый (30–79%)17
HP:0000083Renal insufficiency
HP:0000093Proteinuria
HP:0000509Conjunctivitis
HP:0000554Uveitis
HP:0000790Hematuria
HP:0001369Arthritis
HP:0002017Nausea and vomiting
HP:0002027Abdominal pain
HP:0002094Dyspnea
HP:0002105Hemoptysis
HP:0002960Autoimmunity
HP:0007400Irregular hyperpigmentation
HP:0012735Cough
HP:0100533Inflammatory abnormality of the eye
HP:0100534Episcleritis
HP:0100665Angioedema
HP:0100820Glomerulopathy
Периодический (5–29%)26
HP:0000407Sensorineural hearing impairment
HP:0000763Sensory neuropathy
HP:0001250Seizure
HP:0001251Ataxia
HP:0001287Meningitis
HP:0001315Reduced tendon reflexes
HP:0001373Joint dislocation
HP:0001541Ascites
HP:0001654Abnormal heart valve morphology
HP:0001698Pericardial effusion
HP:0001744Splenomegaly
HP:0002014Diarrhea
HP:0002091Restrictive ventilatory defect
HP:0002097Emphysema
HP:0002202Pleural effusion
HP:0002240Hepatomegaly
HP:0002665Lymphoma
HP:0002716Lymphadenopathy
HP:0002718Recurrent bacterial infections
HP:0003326Myalgia
HP:0004374Hemiplegia/hemiparesis
HP:0006536Airway obstruction
HP:0006824Cranial nerve paralysis
HP:0009830Peripheral neuropathy
HP:0100021Cerebral palsy
HP:0100326Immunologic hypersensitivity
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)