46,XX gonadal dysgenesis
ORPHA:243Malformation syndromeAutosomal dominant, Autosomal recessive, Not applicable, X-linked recessiveAdolescent, Adult
Ассоциированные гены12
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NR5A1 | nuclear receptor subfamily 5 group A member 1 | Disease-causing germline mutation(s) in | gene with protein product | 184757 |
| FIGLA | folliculogenesis specific bHLH transcription factor | Disease-causing germline mutation(s) in | gene with protein product | 608697 |
| MRPS22 | mitochondrial ribosomal protein S22 | Disease-causing germline mutation(s) in | gene with protein product | 605810 |
| FSHR | follicle stimulating hormone receptor | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 136435 |
| BMP15 | bone morphogenetic protein 15 | Disease-causing germline mutation(s) in | gene with protein product | 300247 |
| PSMC3IP | PSMC3 interacting protein | Disease-causing germline mutation(s) in | gene with protein product | 608665 |
| NUP107 | nucleoporin 107 | Disease-causing germline mutation(s) in | gene with protein product | 607617 |
| BNC1 | basonuclin zinc finger protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 601930 |
| ZSWIM7 | zinc finger SWIM-type containing 7 | Disease-causing germline mutation(s) in | gene with protein product | 614535 |
| POLR3H | RNA polymerase III subunit H | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 619801 |
| MSH4 | mutS homolog 4 | Disease-causing germline mutation(s) in | gene with protein product | 602105 |
| SPIDR | scaffold protein involved in DNA repair | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615384 |
Фенотипы (HPO)25
Облигатный (100%)2
HP:0000133Gonadal dysgenesis
HP:0008209Premature ovarian insufficiency
Очень частый (80–99%)6
HP:0000144Decreased fertility
HP:0000786Primary amenorrhea
HP:0000823Delayed puberty
HP:0000837Increased circulating gonadotropin level
HP:0008214Decreased serum estradiol
HP:0009888Abnormality of secondary sexual hair
Частый (30–79%)8
HP:0000938Osteopenia
HP:0002225Sparse pubic hair
HP:0002750Delayed skeletal maturation
HP:0004349Reduced bone mineral density
HP:0005625Osteoporosis of vertebrae
HP:0008684Aplasia/hypoplasia of the uterus
HP:0010311Aplasia/Hypoplasia of the breasts
HP:0010464Streak ovary
Периодический (5–29%)4
HP:0000365Hearing impairment
HP:0000869Secondary amenorrhea
HP:0001939Abnormality of metabolism/homeostasis
HP:0004322Short stature
Очень редкий (1–4%)4
HP:0000252Microcephaly
HP:0001166Arachnodactyly
HP:0001251Ataxia
HP:0002206Pulmonary fibrosis
Исключён (0%)1
HP:0000062Ambiguous genitalia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)