Male infertility with azoospermia or oligozoospermia due to single gene mutation
ORPHA:399805DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveAdolescent, Adult
Ассоциированные гены37
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SPAG17 | sperm associated antigen 17 | Disease-causing germline mutation(s) in | gene with protein product | 616554 |
| TEX14 | testis expressed 14, intercellular bridge forming factor | Disease-causing germline mutation(s) in | gene with protein product | 605792 |
| TDRD9 | tudor domain containing 9 | Disease-causing germline mutation(s) in | gene with protein product | 617963 |
| NANOS1 | nanos C2HC-type zinc finger 1 | Disease-causing germline mutation(s) in | gene with protein product | 608226 |
| FANCM | FA complementation group M | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609644 |
| TEX15 | testis expressed 15, meiosis and synapsis associated | Disease-causing germline mutation(s) in | gene with protein product | 605795 |
| CT55 | cancer/testis antigen 55 | Disease-causing germline mutation(s) in | gene with protein product | 301105 |
| RPL10L | ribosomal protein L10 like | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 619655 |
| GCNA | germ cell nuclear acidic peptidase | Disease-causing germline mutation(s) in | gene with protein product | 300369 |
| CATIP | ciliogenesis associated TTC17 interacting protein | Disease-causing germline mutation(s) in | gene with protein product | 619387 |
| RNF212 | ring finger protein 212 | Disease-causing germline mutation(s) in | gene with protein product | 612041 |
| TERB1 | telomere repeat binding bouquet formation protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 617332 |
| TERB2 | telomere repeat binding bouquet formation protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 617131 |
| MOV10L1 | Mov10 like RNA helicase 1 | Disease-causing germline mutation(s) in | gene with protein product | 605794 |
| FBXO43 | F-box protein 43 | Disease-causing germline mutation(s) in | gene with protein product | 609110 |
| SHOC1 | shortage in chiasmata 1 | Disease-causing germline mutation(s) in | gene with protein product | 618038 |
| PNLDC1 | PARN like ribonuclease domain containing exonuclease 1 | Disease-causing germline mutation(s) in | gene with protein product | 619529 |
| DNAH10 | dynein axonemal heavy chain 10 | Disease-causing germline mutation(s) in | gene with protein product | 605884 |
| STAG3 | STAG3 cohesin complex component | Disease-causing germline mutation(s) in | gene with protein product | 608489 |
| CFTR | CF transmembrane conductance regulator | Major susceptibility factor in | gene with protein product | 602421 |
| NR5A1 | nuclear receptor subfamily 5 group A member 1 | Disease-causing germline mutation(s) in | gene with protein product | 184757 |
| TAF4B | TATA-box binding protein associated factor 4b | Disease-causing germline mutation(s) in | gene with protein product | 601689 |
| ZMYND15 | zinc finger MYND-type containing 15 | Disease-causing germline mutation(s) in | gene with protein product | 614312 |
| TEX11 | testis expressed 11 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300311 |
| SYCP3 | synaptonemal complex protein 3 | Candidate gene tested in | gene with protein product | 604759 |
| SOHLH1 | spermatogenesis and oogenesis specific basic helix-loop-helix 1 | Major susceptibility factor in | gene with protein product | 610224 |
| XRCC2 | X-ray repair cross complementing 2 | Disease-causing germline mutation(s) in | gene with protein product | 600375 |
| SYCE1 | synaptonemal complex central element protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 611486 |
| MEIOB | meiosis specific with OB-fold | Disease-causing germline mutation(s) in | gene with protein product | 617670 |
| C14ORF39 | chromosome 14 open reading frame 39 | Disease-causing germline mutation(s) in | gene with protein product | 617307 |
| KLHL10 | kelch like family member 10 | Disease-causing germline mutation(s) in | gene with protein product | 608778 |
| CCDC34 | coiled-coil domain containing 34 | Disease-causing germline mutation(s) in | gene with protein product | 612324 |
| PDHA2 | pyruvate dehydrogenase E1 subunit alpha 2 | Disease-causing germline mutation(s) in | gene with protein product | 179061 |
| DNHD1 | dynein heavy chain domain 1 | Disease-causing germline mutation(s) in | gene with protein product | 617277 |
| ZSWIM7 | zinc finger SWIM-type containing 7 | Disease-causing germline mutation(s) in | gene with protein product | 614535 |
| SPINK2 | serine peptidase inhibitor Kazal type 2 | Disease-causing germline mutation(s) in | gene with protein product | 605753 |
| MSH5 | mutS homolog 5 | Disease-causing germline mutation(s) in | gene with protein product | 603382 |
Фенотипы (HPO)7
Очень частый (80–99%)6
HP:0000027Azoospermia
HP:0000118Phenotypic abnormality
HP:0000837Increased circulating gonadotropin level
HP:0008669Abnormal spermatogenesis
HP:0008734Decreased testicular size
HP:0011961Non-obstructive azoospermia
Частый (30–79%)1
HP:0011962Obstructive azoospermia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)