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Generalized pustular psoriasis

ORPHA:247353DiseaseAutosomal recessive, Not applicableAdult

Ассоциированные гены (2)

IL36RN
interleukin 36 receptor antagonist
Disease-causing germline mutation(s) (loss of function) in
OMIM: 605507
AP1S3
adaptor related protein complex 1 subunit sigma 3
Disease-causing germline mutation(s) in
OMIM: 615781

Фенотипы (27)

Облигатный (100%)4
HP:0002829Arthralgia
HP:0003565Elevated erythrocyte sedimentation rate
HP:0025474Erythematous plaque
HP:0200039Pustule
Очень частый (80–99%)3
HP:0001019Erythroderma
HP:0001597Abnormality of the nail
HP:0012531Pain
Частый (30–79%)8
HP:0001369Arthritis
HP:0001945Fever
HP:0001974Leukocytosis
HP:0011227Elevated circulating C-reactive protein concentration
HP:0012378Fatigue
HP:0025252Geographic tongue
HP:0025502Overweight
HP:0100825Cheilitis
Периодический (5–29%)9
HP:0000083Renal insufficiency
HP:0001513Obesity
HP:0001888Lymphopenia
HP:0002901Hypocalcemia
HP:0002902Hyponatremia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003073Hypoalbuminemia
HP:0010741Pedal edema
HP:0100847Palmoplantar pustulosis
Очень редкий (1–4%)3
HP:0000554Uveitis
HP:0001635Congestive heart failure
HP:0100806Sepsis

Эпидемиология (2)

Point prevalence
1-9 / 1 000 000
France
Point prevalence
1-9 / 1 000 000
Europe

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы