Male infertility due to large-headed multiflagellar polyploid spermatozoa
ORPHA:137893Clinical subtypeAutosomal recessive
Ассоциированные гены8
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| AURKC | aurora kinase C | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603495 |
| DNHD1 | dynein heavy chain domain 1 | Disease-causing germline mutation(s) in | gene with protein product | 617277 |
| CFAP47 | cilia and flagella associated protein 47 | Disease-causing germline mutation(s) in | gene with protein product | 301057 |
| DNAH10 | dynein axonemal heavy chain 10 | Disease-causing germline mutation(s) in | gene with protein product | 605884 |
| AKAP3 | A-kinase anchoring protein 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604689 |
| CFAP61 | cilia and flagella associated protein 61 | Disease-causing germline mutation(s) in | gene with protein product | 620381 |
| ARMC12 | armadillo repeat containing 12 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 620377 |
| IFT74 | intraflagellar transport 74 | Disease-causing germline mutation(s) in | gene with protein product | 608040 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)