ICF syndrome
ORPHA:2268Malformation syndromeAutosomal recessiveChildhood
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| DNMT3B | DNA methyltransferase 3 beta | Disease-causing germline mutation(s) in | gene with protein product | 602900 |
| ZBTB24 | zinc finger and BTB domain containing 24 | Disease-causing germline mutation(s) in | gene with protein product | 614064 |
| CDCA7 | cell division cycle associated 7 | Disease-causing germline mutation(s) in | gene with protein product | 609937 |
| HELLS | helicase, lymphoid specific | Disease-causing germline mutation(s) in | gene with protein product | 603946 |
| UHRF1 | ubiquitin like with PHD and ring finger domains 1 | Disease-causing germline mutation(s) in | gene with protein product | 607990 |
Фенотипы (HPO)23
Очень частый (80–99%)6
HP:0000347Micrognathia
HP:0002205Recurrent respiratory infections
HP:0002721Immunodeficiency
HP:0003220Abnormality of chromosome stability
HP:0004313Decreased circulating antibody level
HP:0004322Short stature
Частый (30–79%)10
HP:0000256Macrocephaly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001334Communicating hydrocephalus
HP:0001874Abnormality of neutrophils
HP:0001888Lymphopenia
HP:0001903Anemia
HP:0002024Malabsorption
HP:0005280Depressed nasal bridge
HP:0005374Cellular immunodeficiency
Периодический (5–29%)7
HP:0000158Macroglossia
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0001537Umbilical hernia
HP:0010808Protruding tongue
HP:0012368Flat face
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 66 | 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)