Omenn syndrome
ORPHA:39041DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены10
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ADA | adenosine deaminase | Disease-causing germline mutation(s) in | gene with protein product | 608958 |
| RAG1 | recombination activating 1 | Disease-causing germline mutation(s) in | gene with protein product | 179615 |
| RAG2 | recombination activating 2 | Disease-causing germline mutation(s) in | gene with protein product | 179616 |
| CHD7 | chromodomain helicase DNA binding protein 7 | Disease-causing germline mutation(s) in | gene with protein product | 608892 |
| DCLRE1C | DNA cross-link repair 1C | Disease-causing germline mutation(s) in | gene with protein product | 605988 |
| IL2RG | interleukin 2 receptor subunit gamma | Disease-causing germline mutation(s) in | gene with protein product | 308380 |
| LIG4 | DNA ligase 4 | Disease-causing germline mutation(s) in | gene with protein product | 601837 |
| RMRP | RNA component of mitochondrial RNA processing endoribonuclease | Disease-causing germline mutation(s) in | Non-coding RNA | 157660 |
| IL7R | interleukin 7 receptor | Disease-causing germline mutation(s) in | gene with protein product | 146661 |
| PSMB10 | proteasome 20S subunit beta 10 | Disease-causing germline mutation(s) in | gene with protein product | 176847 |
Фенотипы (HPO)28
Очень частый (80–99%)8
HP:0001019Erythroderma
HP:0001508Failure to thrive
HP:0001596Alopecia
HP:0002028Chronic diarrhea
HP:0002240Hepatomegaly
HP:0002716Lymphadenopathy
HP:0004332Abnormal lymphocyte morphology
HP:0004430Severe combined immunodeficiency
Частый (30–79%)11
HP:0000958Dry skin
HP:0000969Edema
HP:0000989Pruritus
HP:0001072Thickened skin
HP:0001744Splenomegaly
HP:0001880Eosinophilia
HP:0001945Fever
HP:0001974Leukocytosis
HP:0002090Pneumonia
HP:0007549Desquamation of skin soon after birth
HP:0100840Aplasia/Hypoplasia of the eyebrow
Периодический (5–29%)9
HP:0000100Nephrotic syndrome
HP:0000821Hypothyroidism
HP:0000944Abnormal metaphysis morphology
HP:0001831Short toe
HP:0001903Anemia
HP:0002665Lymphoma
HP:0002960Autoimmunity
HP:0100646Thyroiditis
HP:0100806Sepsis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)