46,XY partial gonadal dysgenesis
ORPHA:251510Malformation syndromeAutosomal dominant, Autosomal recessive, X-linked recessive, Y-linkedInfancy, Neonatal
Ассоциированные гены11
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| DHX37 | DEAH-box helicase 37 | Disease-causing germline mutation(s) in | gene with protein product | 617362 |
| WT1 | WT1 transcription factor | Candidate gene tested in | gene with protein product | 607102 |
| SOX9 | SRY-box transcription factor 9 | Disease-causing germline mutation(s) in | gene with protein product | 608160 |
| SRY | sex determining region Y | Disease-causing germline mutation(s) in | gene with protein product | 480000 |
| WWOX | WW domain containing oxidoreductase | Disease-causing germline mutation(s) in | gene with protein product | 605131 |
| ZFPM2 | zinc finger protein, FOG family member 2 | Disease-causing germline mutation(s) in | gene with protein product | 603693 |
| GATA4 | GATA binding protein 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600576 |
| NR0B1 | nuclear receptor subfamily 0 group B member 1 | Role in the phenotype of | gene with protein product | 300473 |
| NR5A1 | nuclear receptor subfamily 5 group A member 1 | Disease-causing germline mutation(s) in | gene with protein product | 184757 |
| MAP3K1 | mitogen-activated protein kinase kinase kinase 1 | Disease-causing germline mutation(s) in | gene with protein product | 600982 |
| VAMP7 | vesicle associated membrane protein 7 | Role in the phenotype of | gene with protein product | 300053 |
Фенотипы (HPO)43
Очень частый (80–99%)31
HP:0003251Male infertility
HP:0008214Decreased serum estradiol
HP:0008232Elevated circulating follicle stimulating hormone level
HP:0008665Clitoral hypertrophy
HP:0008726Hypoplasia of the vagina
HP:0008730Female external genitalia in individual with 46,XY karyotype
HP:0008734Decreased testicular size
HP:0008736Hypoplasia of penis
HP:0010464Streak ovary
HP:0011969Elevated circulating luteinizing hormone level
HP:0012244Abnormal sex determination
HP:0012870Vanishing testis
HP:0040171Decreased serum testosterone concentration
HP:0100779Urogenital sinus anomaly
HP:0000027Azoospermia
HP:0000045Abnormality of the scrotum
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000058Abnormality of the labia
HP:0000062Ambiguous genitalia
HP:0000133Gonadal dysgenesis
HP:0000142Abnormality of the vagina
HP:0000771Gynecomastia
HP:0000786Primary amenorrhea
HP:0000812Abnormal internal genitalia
HP:0000815Hypergonadotropic hypogonadism
HP:0000837Increased circulating gonadotropin level
HP:0000868Decreased fertility in females
HP:0000939Osteoporosis
HP:0002215Sparse axillary hair
HP:0002225Sparse pubic hair
Частый (30–79%)3
HP:0000028Cryptorchidism
HP:0000150Gonadoblastoma
HP:0000823Delayed puberty
Периодический (5–29%)6
HP:0000030Testicular gonadoblastoma
HP:0000149Ovarian gonadoblastoma
HP:0000846Adrenal insufficiency
HP:0002750Delayed skeletal maturation
HP:0008187Absence of secondary sex characteristics
HP:0008193Primary gonadal insufficiency
Очень редкий (1–4%)3
HP:0000100Nephrotic syndrome
HP:0002667Nephroblastoma
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)