Silver-Russell syndrome due to a point mutation
ORPHA:397590Etiological subtypeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| IGF2 | insulin like growth factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 147470 |
| CDKN1C | cyclin dependent kinase inhibitor 1C | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600856 |
| HMGA2 | high mobility group AT-hook 2 | Disease-causing germline mutation(s) in | gene with protein product | 600698 |
| PLAG1 | PLAG1 zinc finger | Disease-causing germline mutation(s) in | gene with protein product | 603026 |
Фенотипы (HPO)36
Очень частый (80–99%)9
HP:0000325Triangular face
HP:0000347Micrognathia
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0004209Clinodactyly of the 5th finger
HP:0004482Relative macrocephaly
HP:0008872Feeding difficulties in infancy
HP:0008897Postnatal growth retardation
HP:0011220Prominent forehead
Частый (30–79%)10
HP:0000045Abnormality of the scrotum
HP:0000047Hypospadias
HP:0000175Cleft palate
HP:0000369Low-set ears
HP:0000750Delayed speech and language development
HP:0001159Syndactyly
HP:0001270Motor delay
HP:0001562Oligohydramnios
HP:0001626Abnormality of the cardiovascular system
HP:0009237Short 5th finger
Периодический (5–29%)17
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000048Bifid scrotum
HP:0000821Hypothyroidism
HP:0000957Cafe-au-lait spot
HP:0001263Global developmental delay
HP:0001804Hypoplastic fingernail
HP:0001943Hypoglycemia
HP:0002007Frontal bossing
HP:0002099Asthma
HP:0006266Small placenta
HP:0007018Attention deficit hyperactivity disorder
HP:0010442Polydactyly
HP:0030260Microphallus
HP:0100257Ectrodactyly
HP:0100555Asymmetric growth
HP:0100607Dysmenorrhea
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)