Transketolase deficiency
ORPHA:488618Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)4
HP:0001263Global developmental delay
HP:0001627Abnormal heart morphology
HP:0003508Proportionate short stature
HP:0025550Elevated circulating ribitol concentration
Частый (30–79%)11
HP:0000518Cataract
HP:0000554Uveitis
HP:0000722Compulsive behaviors
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001344Absent speech
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0007018Attention deficit hyperactivity disorder
HP:0410072Increased level of ribose in urine
Периодический (5–29%)12
HP:0000107Renal cyst
HP:0000365Hearing impairment
HP:0000509Conjunctivitis
HP:0000733Abnormal repetitive mannerisms
HP:0000869Secondary amenorrhea
HP:0001051Seborrheic dermatitis
HP:0001643Patent ductus arteriosus
HP:0001655Patent foramen ovale
HP:0002240Hepatomegaly
HP:0011686Abnormal coronary artery course
HP:0100651Type I diabetes mellitus
HP:0100716Self-injurious behavior
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)