CINCA syndrome
ORPHA:1451DiseaseAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)20
HP:0000365Hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000538Pseudopapilledema
HP:0000554Uveitis
HP:0001025Urticaria
HP:0001156Brachydactyly
HP:0001287Meningitis
HP:0001874Abnormality of neutrophils
HP:0001911Abnormality of granulocytes
HP:0001945Fever
HP:0002017Nausea and vomiting
HP:0002076Migraine
HP:0002516Increased intracranial pressure
HP:0002829Arthralgia
HP:0003326Myalgia
HP:0003565Elevated erythrocyte sedimentation rate
HP:0011227Elevated circulating C-reactive protein concentration
HP:0012378Fatigue
HP:0100533Inflammatory abnormality of the eye
HP:0200034Papule
Частый (30–79%)15
HP:0000256Macrocephaly
HP:0000505Visual impairment
HP:0000520Proptosis
HP:0000969Edema
HP:0001367Abnormal joint morphology
HP:0001373Joint dislocation
HP:0001476Delayed closure of the anterior fontanelle
HP:0001744Splenomegaly
HP:0001872Abnormality of thrombocytes
HP:0001903Anemia
HP:0001974Leukocytosis
HP:0002007Frontal bossing
HP:0002240Hepatomegaly
HP:0002652Skeletal dysplasia
HP:0002716Lymphadenopathy
Периодический (5–29%)9
HP:0000618Blindness
HP:0000979Purpura
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0001622Premature birth
HP:0002353EEG abnormality
HP:0004349Reduced bone mineral density
HP:0100654Retrobulbar optic neuritis
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)