Growth delay due to insulin-like growth factor type 1 deficiency
ORPHA:73272DiseaseAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)42
Очень частый (80–99%)20
HP:0000252Microcephaly
HP:0000399Prelingual sensorineural hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000708Atypical behavior
HP:0000736Short attention span
HP:0000752Hyperactivity
HP:0000855Insulin resistance
HP:0001249Intellectual disability
HP:0001256Intellectual disability, mild
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0001999Abnormal facial shape
HP:0004322Short stature
HP:0007018Attention deficit hyperactivity disorder
HP:0008527Congenital sensorineural hearing impairment
HP:0008619Bilateral sensorineural hearing impairment
HP:0008846Severe intrauterine growth retardation
HP:0008850Severe postnatal growth retardation
HP:0008897Postnatal growth retardation
Частый (30–79%)10
HP:0000135Hypogonadism
HP:0000153Abnormality of the mouth
HP:0000347Micrognathia
HP:0000684Delayed eruption of teeth
HP:0000939Osteoporosis
HP:0002750Delayed skeletal maturation
HP:0003265Neonatal hyperbilirubinemia
HP:0004209Clinodactyly of the 5th finger
HP:0006266Small placenta
HP:0030084Clinodactyly
Периодический (5–29%)12
HP:0000294Low anterior hairline
HP:0000508Ptosis
HP:0000545Myopia
HP:0000954Single transverse palmar crease
HP:0000957Cafe-au-lait spot
HP:0001270Motor delay
HP:0001943Hypoglycemia
HP:0001956Truncal obesity
HP:0002162Low posterior hairline
HP:0007911Congenital bilateral ptosis
HP:0011120Concave nasal ridge
HP:0011220Prominent forehead
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)