Septo-optic dysplasia spectrum
ORPHA:3157Malformation syndromeAutosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PROKR2 | prokineticin receptor 2 | Disease-causing germline mutation(s) in | gene with protein product | 607123 |
| SOX2 | SRY-box transcription factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 184429 |
| FGFR1 | fibroblast growth factor receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 136350 |
| HESX1 | HESX homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 601802 |
| OTX2 | orthodenticle homeobox 2 | Disease-causing germline mutation(s) in | gene with protein product | 600037 |
| SOX3 | SRY-box transcription factor 3 | Disease-causing germline mutation(s) in | gene with protein product | 313430 |
| ARNT2 | aryl hydrocarbon receptor nuclear translocator 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606036 |
Фенотипы (HPO)33
Очень частый (80–99%)3
HP:0000505Visual impairment
HP:0000609Optic nerve hypoplasia
HP:0100842Septo-optic dysplasia
Частый (30–79%)12
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001331Absent septum pellucidum
HP:0004322Short stature
HP:0004374Hemiplegia/hemiparesis
HP:0008736Hypoplasia of penis
HP:0010627Anterior pituitary hypoplasia
Периодический (5–29%)18
HP:0000407Sensorineural hearing impairment
HP:0000458Anosmia
HP:0000717Autism
HP:0000873Diabetes insipidus
HP:0000958Dry skin
HP:0000966Hypohidrosis
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001513Obesity
HP:0001959Polydipsia
HP:0002019Constipation
HP:0002032Esophageal atresia
HP:0002360Sleep abnormality
HP:0002575Tracheoesophageal fistula
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0009800Maternal diabetes
HP:0012378Fatigue
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 10 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)