Chromosome Y microdeletion syndrome
ORPHA:1646Malformation syndromeNot applicable, Y-linkedAdult
Ассоциированные гены9
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| AZF1 | azoospermia factor 1 | Role in the phenotype of | Disorder-associated locus | — |
| USP9Y | ubiquitin specific peptidase 9 Y-linked | Role in the phenotype of | gene with protein product | 400005 |
| DAZ1 | deleted in azoospermia 1 | Candidate gene tested in | gene with protein product | 400003 |
| DAZ2 | deleted in azoospermia 2 | Candidate gene tested in | gene with protein product | 400026 |
| DAZ3 | deleted in azoospermia 3 | Candidate gene tested in | gene with protein product | 400027 |
| DAZ4 | deleted in azoospermia 4 | Candidate gene tested in | gene with protein product | 400048 |
| DDX3Y | DEAD-box helicase 3 Y-linked | Candidate gene tested in | gene with protein product | 400010 |
| RBMY1A1 | RNA binding motif protein Y-linked family 1 member A1 | Candidate gene tested in | gene with protein product | 400006 |
| TSPY1 | testis specific protein Y-linked 1 | Modifying germline mutation in | gene with protein product | 480100 |
Фенотипы (HPO)6
Очень частый (80–99%)4
HP:0003251Male infertility
HP:0008669Abnormal spermatogenesis
HP:0008734Decreased testicular size
HP:0011961Non-obstructive azoospermia
Частый (30–79%)1
HP:0000798Oligozoospermia
Периодический (5–29%)1
HP:0000028Cryptorchidism
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 20.8 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | 20 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)