Familial hemophagocytic lymphohistiocytosis
ORPHA:540DiseaseAutosomal recessiveAdolescent, Infancy
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PRF1 | perforin 1 | Disease-causing germline mutation(s) in | gene with protein product | 170280 |
| STX11 | syntaxin 11 | Disease-causing germline mutation(s) in | gene with protein product | 605014 |
| UNC13D | unc-13 homolog D | Disease-causing germline mutation(s) in | gene with protein product | 608897 |
| STXBP2 | syntaxin binding protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 601717 |
Фенотипы (HPO)45
Очень частый (80–99%)12
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0001945Fever
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0002958Immune dysregulation
HP:0003073Hypoalbuminemia
HP:0003281Increased circulating ferritin concentration
HP:0011112Abnormality of serum cytokine level
HP:0011118Abnormality of tumor necrosis factor secretion
HP:0012145Abnormality of multiple cell lineages in the bone marrow
HP:0012156Hemophagocytosis
HP:0030356Increased serum interferon-gamma level
Частый (30–79%)20
HP:0012177Abnormal natural killer cell physiology
HP:0000967Petechiae
HP:0000979Purpura
HP:0000988Skin rash
HP:0001019Erythroderma
HP:0001410Decreased liver function
HP:0001744Splenomegaly
HP:0001875Decreased total neutrophil count
HP:0002086Abnormality of the respiratory system
HP:0002155Hypertriglyceridemia
HP:0002240Hepatomegaly
HP:0002611Cholestatic liver disease
HP:0002716Lymphadenopathy
HP:0003256Abnormality of the coagulation cascade
HP:0011121Abnormal skin morphology
HP:0011900Hypofibrinogenemia
HP:0012211Abnormal renal physiology
HP:0012229CSF pleocytosis
HP:0030783Increased circulating interleukin 6 concentration
HP:0031364Ecchymosis
Периодический (5–29%)12
HP:0000707Abnormality of the nervous system
HP:0000952Jaundice
HP:0000978Bruising susceptibility
HP:0001250Seizure
HP:0001259Coma
HP:0002383Infectious encephalitis
HP:0002500Abnormal cerebral white matter morphology
HP:0002583Colitis
HP:0004302Functional motor deficit
HP:0004313Decreased circulating antibody level
HP:0009830Peripheral neuropathy
HP:0040186Maculopapular exanthema
Очень редкий (1–4%)1
HP:0000407Sensorineural hearing impairment
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2 | Sweden | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Annual incidence | 1-9 / 1 000 000 | 0.104 | China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)