46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
ORPHA:168563Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)23
HP:0000013Hypoplasia of the uterus
HP:0000026Male hypogonadism
HP:0000055Abnormality of female external genitalia
HP:0000133Gonadal dysgenesis
HP:0000142Abnormality of the vagina
HP:0000786Primary amenorrhea
HP:0000789Infertility
HP:0000837Increased circulating gonadotropin level
HP:0001271Polyneuropathy
HP:0001315Reduced tendon reflexes
HP:0002460Distal muscle weakness
HP:0003130Abnormal peripheral myelination
HP:0003134Abnormality of peripheral nerve conduction
HP:0003202Skeletal muscle atrophy
HP:0003409Distal sensory impairment of all modalities
HP:0003434Sensory ataxic neuropathy
HP:0007141Sensorimotor neuropathy
HP:0008214Decreased serum estradiol
HP:0008715Testicular dysgenesis
HP:0008723Gonadal dysgenesis with female appearance, male
HP:0010464Streak ovary
HP:0040171Decreased serum testosterone concentration
HP:0045010Abnormality of peripheral nerves
Периодический (5–29%)3
HP:0000150Gonadoblastoma
HP:0001761Pes cavus
HP:0003376Steppage gait
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)