Non-syndromic male infertility due to sperm motility disorder
ORPHA:276234DiseaseAutosomal recessiveAdult
Ассоциированные гены25
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CFAP251 | cilia and flagella associated protein 251 | Disease-causing germline mutation(s) in | gene with protein product | 618146 |
| CFAP43 | cilia and flagella associated protein 43 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 617558 |
| CFAP44 | cilia and flagella associated protein 44 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 617559 |
| ARMC2 | armadillo repeat containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 618424 |
| TTC21A | tetratricopeptide repeat domain 21A | Disease-causing germline mutation(s) in | gene with protein product | 611430 |
| AK7 | adenylate kinase 7 | Disease-causing germline mutation(s) in | gene with protein product | 615364 |
| CFAP65 | cilia and flagella associated protein 65 | Disease-causing germline mutation(s) in | gene with protein product | 614270 |
| CFAP69 | cilia and flagella associated protein 69 | Disease-causing germline mutation(s) in | gene with protein product | 617949 |
| AKAP4 | A-kinase anchoring protein 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300185 |
| SPAG17 | sperm associated antigen 17 | Disease-causing germline mutation(s) in | gene with protein product | 616554 |
| ACTL9 | actin like 9 | Disease-causing germline mutation(s) in | gene with protein product | 619251 |
| TEKT3 | tektin 3 | Disease-causing germline mutation(s) in | gene with protein product | 612683 |
| DNALI1 | dynein axonemal light intermediate chain 1 | Disease-causing germline mutation(s) in | gene with protein product | 602135 |
| USP26 | ubiquitin specific peptidase 26 | Disease-causing germline mutation(s) in | gene with protein product | 300309 |
| FSIP2 | fibrous sheath interacting protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 615796 |
| CFAP70 | cilia and flagella associated protein 70 | Disease-causing germline mutation(s) in | gene with protein product | 618661 |
| TTC29 | tetratricopeptide repeat domain 29 | Disease-causing germline mutation(s) in | gene with protein product | 618735 |
| CATSPER1 | cation channel sperm associated 1 | Disease-causing germline mutation(s) in | gene with protein product | 606389 |
| SLC26A8 | solute carrier family 26 member 8 | Disease-causing germline mutation(s) in | gene with protein product | 608480 |
| SEPTIN12 | septin 12 | Disease-causing germline mutation(s) in | gene with protein product | 611562 |
| DNAH1 | dynein axonemal heavy chain 1 | Disease-causing germline mutation(s) in | gene with protein product | 603332 |
| SSX1 | SSX family member 1 | Disease-causing germline mutation(s) in | gene with protein product | 312820 |
| DRC1 | dynein regulatory complex subunit 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615288 |
| DNAH17 | dynein axonemal heavy chain 17 | Disease-causing germline mutation(s) in | gene with protein product | 610063 |
| SPEF2 | sperm flagellar 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610172 |
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)