Rothmund-Thomson syndrome type 1
ORPHA:221008Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)64
Очень частый (80–99%)2
HP:0001029Poikiloderma
HP:0001118Juvenile cataract
Частый (30–79%)14
HP:0000028Cryptorchidism
HP:0000164Abnormality of the dentition
HP:0000519Developmental cataract
HP:0000953Hyperpigmentation of the skin
HP:0001009Telangiectasia
HP:0001010Hypopigmentation of the skin
HP:0001041Facial erythema
HP:0001510Growth delay
HP:0001518Small for gestational age
HP:0002164Nail dysplasia
HP:0004322Short stature
HP:0004334Dermal atrophy
HP:0005775Multiple skeletal anomalies
HP:0008070Sparse hair
Периодический (5–29%)29
HP:0000135Hypogonadism
HP:0000282Facial edema
HP:0000670Carious teeth
HP:0000682Abnormality of dental enamel
HP:0000684Delayed eruption of teeth
HP:0000691Microdontia
HP:0000821Hypothyroidism
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001875Decreased total neutrophil count
HP:0001903Anemia
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002863Myelodysplasia
HP:0007018Attention deficit hyperactivity disorder
HP:0007418Alopecia totalis
HP:0007556Plantar hyperkeratosis
HP:0008066Abnormal blistering of the skin
HP:0008069Neoplasm of the skin
HP:0008209Premature ovarian insufficiency
HP:0009804Tooth agenesis
HP:0010978Abnormality of immune system physiology
HP:0012719Functional abnormality of the gastrointestinal tract
HP:0020110Bone fracture
HP:0031367Metaphyseal striations
HP:0040288Nasogastric tube feeding
HP:0100671Abnormal trabecular bone morphology
HP:0100840Aplasia/Hypoplasia of the eyebrow
HP:0200102Sparse or absent eyelashes
Очень редкий (1–4%)19
HP:0000938Osteopenia
HP:0001909Leukemia
HP:0001915Aplastic anemia
HP:0002669Osteosarcoma
HP:0002671Basal cell carcinoma
HP:0002750Delayed skeletal maturation
HP:0002860Squamous cell carcinoma
HP:0002861Melanoma
HP:0002970Genu varum
HP:0003065Patellar hypoplasia
HP:0003761Calcinosis
HP:0003995Abnormality of the radial head
HP:0004039Abnormality of ulnar metaphysis
HP:0004979Metaphyseal sclerosis
HP:0006443Patellar aplasia
HP:0009700Finger symphalangism
HP:0009803Short phalanx of finger
HP:0010049Short metacarpal
HP:0200044Porokeratosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)