Požymis
Absent sperm in semen
Klinikinis pavadinimas: Azoospermia
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Santrauka
- Kūno sistema
- Abnormality of the genitourinary system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Absent sperm in semen. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| C14orf39chromosome 14 open reading frame 39 | Visada | 1 ligoje |
| DCAF17DDB1 and CUL4 associated factor 17 | Visada | 1 ligoje |
| DNAH9dynein axonemal heavy chain 9 | Visada | 1 ligoje |
| LHBluteinizing hormone subunit beta | Visada | 1 ligoje |
| M1APmeiosis 1 associated protein | Visada | 1 ligoje |
| SCP2sterol carrier protein 2 | Visada | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Visada | 2 ligose |
| SOX9SRY-box transcription factor 9 | Visada | 2 ligose |
| STEAP3STEAP3 metalloreductase | Visada | 2 ligose |
| SYCP3synaptonemal complex protein 3 | Visada | 2 ligose |
| TEX11testis expressed 11 | Visada | 2 ligose |
| TEX14testis expressed 14, intercellular bridge forming factor | Visada | 2 ligose |
| XRCC2X-ray repair cross complementing 2 | Visada | 3 ligose |
| ZMYND15zinc finger MYND-type containing 15 | Visada | 2 ligose |
| CATIPciliogenesis associated TTC17 interacting protein | Labai dažnai (80–99%) | 1 ligoje |
| CATSPER2cation channel sperm associated 2 | Labai dažnai (80–99%) | 1 ligoje |
| CCDC34coiled-coil domain containing 34 | Labai dažnai (80–99%) | 1 ligoje |
| CFTRCF transmembrane conductance regulator | Labai dažnai (80–99%) | 2 ligose |
| CHD7chromodomain helicase DNA binding protein 7 | Labai dažnai (80–99%) | 1 ligoje |
| CT55cancer/testis antigen 55 | Labai dažnai (80–99%) | 1 ligoje |
| DHX37DEAH-box helicase 37 | Labai dažnai (80–99%) | 1 ligoje |
| DNAH10dynein axonemal heavy chain 10 | Labai dažnai (80–99%) | 1 ligoje |
| DNHD1dynein heavy chain domain 1 | Labai dažnai (80–99%) | 1 ligoje |
| DUSP6dual specificity phosphatase 6 | Labai dažnai (80–99%) | 1 ligoje |
| EMX2empty spiracles homeobox 2 | Labai dažnai (80–99%) | 1 ligoje |
| FANCMFA complementation group M | Labai dažnai (80–99%) | 2 ligose |
| FBXO43F-box protein 43 | Labai dažnai (80–99%) | 1 ligoje |
| FGF17fibroblast growth factor 17 | Labai dažnai (80–99%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Labai dažnai (80–99%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Labai dažnai (80–99%) | 1 ligoje |
| GATA4GATA binding protein 4 | Labai dažnai (80–99%) | 1 ligoje |
| GCNAgerm cell nuclear acidic peptidase | Labai dažnai (80–99%) | 2 ligose |
| GNRH1gonadotropin releasing hormone 1 | Labai dažnai (80–99%) | 1 ligoje |
| GNRHRgonadotropin releasing hormone receptor | Labai dažnai (80–99%) | 1 ligoje |
| HNF1BHNF1 homeobox B | Labai dažnai (80–99%) | 1 ligoje |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| KISS1KiSS-1 metastasis suppressor | Labai dažnai (80–99%) | 1 ligoje |
| KISS1RKISS1 receptor | Labai dažnai (80–99%) | 2 ligose |
| KLHL10kelch like family member 10 | Labai dažnai (80–99%) | 1 ligoje |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 104 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MEIOBmeiosis specific with OB-fold | Labai dažnai (80–99%) | 1 ligoje |
| MOV10L1Mov10 like RNA helicase 1 | Labai dažnai (80–99%) | 1 ligoje |
| MSH5mutS homolog 5 | Labai dažnai (80–99%) | 1 ligoje |
| NANOS1nanos C2HC-type zinc finger 1 | Labai dažnai (80–99%) | 2 ligose |
| NHLH2nescient helix-loop-helix 2 | Labai dažnai (80–99%) | 1 ligoje |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Labai dažnai (80–99%) | 2 ligose |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Labai dažnai (80–99%) | 3 ligose |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Labai dažnai (80–99%) | 1 ligoje |
| PDHA2pyruvate dehydrogenase E1 subunit alpha 2 | Labai dažnai (80–99%) | 2 ligose |
| PNLDC1PARN like ribonuclease domain containing exonuclease 1 | Labai dažnai (80–99%) | 1 ligoje |
| PROK2prokineticin 2 | Labai dažnai (80–99%) | 1 ligoje |
| PROKR2prokineticin receptor 2 | Labai dažnai (80–99%) | 1 ligoje |
| RBBP7RB binding protein 7, chromatin remodeling factor | Labai dažnai (80–99%) | 1 ligoje |
| RNF212ring finger protein 212 | Labai dažnai (80–99%) | 1 ligoje |
| RPL10Lribosomal protein L10 like | Labai dažnai (80–99%) | 1 ligoje |
| SHOC1shortage in chiasmata 1 | Labai dažnai (80–99%) | 1 ligoje |
| SOHLH1spermatogenesis and oogenesis specific basic helix-loop-helix 1 | Labai dažnai (80–99%) | 1 ligoje |
| SPAG17sperm associated antigen 17 | Labai dažnai (80–99%) | 1 ligoje |
| SPINK2serine peptidase inhibitor Kazal type 2 | Labai dažnai (80–99%) | 1 ligoje |
| SPRY4sprouty RTK signaling antagonist 4 | Labai dažnai (80–99%) | 1 ligoje |
| SRYsex determining region Y | Labai dažnai (80–99%) | 3 ligose |
| STAG3STAG3 cohesin complex component | Labai dažnai (80–99%) | 1 ligoje |
| STRCstereocilin | Labai dažnai (80–99%) | 1 ligoje |
| SYCE1synaptonemal complex central element protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| TAC3tachykinin precursor 3 | Labai dažnai (80–99%) | 1 ligoje |
| TACR3tachykinin receptor 3 | Labai dažnai (80–99%) | 1 ligoje |
| TAF4BTATA-box binding protein associated factor 4b | Labai dažnai (80–99%) | 2 ligose |
| TDRD9tudor domain containing 9 | Labai dažnai (80–99%) | 2 ligose |
| TERB1telomere repeat binding bouquet formation protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| TERB2telomere repeat binding bouquet formation protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| TEX15testis expressed 15, meiosis and synapsis associated | Labai dažnai (80–99%) | 1 ligoje |
| VAMP7vesicle associated membrane protein 7 | Labai dažnai (80–99%) | 1 ligoje |
| WDR11WD repeat domain 11 | Labai dažnai (80–99%) | 1 ligoje |
| WNT4Wnt family member 4 | Labai dažnai (80–99%) | 1 ligoje |
| WT1WT1 transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Labai dažnai (80–99%) | 1 ligoje |
| ZFPM2zinc finger protein, FOG family member 2 | Labai dažnai (80–99%) | 1 ligoje |
| ZSWIM7zinc finger SWIM-type containing 7 | Labai dažnai (80–99%) | 1 ligoje |
| ANK1ankyrin 1 | Dažnai (30–79%) | 1 ligoje |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Dažnai (30–79%) | 1 ligoje |
| FSHBfollicle stimulating hormone subunit beta | Dažnai (30–79%) | 2 ligose |
| ARandrogen receptor | Kartais (5–29%) | 2 ligose |
| BLMBLM RecQ like helicase | Kartais (5–29%) | 2 ligose |
| BRCA1BRCA1 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Kartais (5–29%) | 1 ligoje |
| CFAP57cilia and flagella associated protein 57 | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Kartais (5–29%) | 1 ligoje |
| FANCAFA complementation group A | Kartais (5–29%) | 1 ligoje |
| FANCBFA complementation group B | Kartais (5–29%) | 1 ligoje |
| FANCCFA complementation group C | Kartais (5–29%) | 1 ligoje |
| FANCD2FA complementation group D2 | Kartais (5–29%) | 1 ligoje |
| FANCEFA complementation group E | Kartais (5–29%) | 1 ligoje |
| FANCFFA complementation group F | Kartais (5–29%) | 1 ligoje |
| FANCGFA complementation group G | Kartais (5–29%) | 1 ligoje |
| FANCIFA complementation group I | Kartais (5–29%) | 1 ligoje |
| FANCLFA complementation group L | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Kartais (5–29%) | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Kartais (5–29%) | 1 ligoje |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Kartais (5–29%) | 1 ligoje |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| GBA1glucosylceramidase beta 1 | Retai (1–4 %) | 1 ligoje |
| MC2Rmelanocortin 2 receptor | Retai (1–4 %) | 1 ligoje |
| MRAPmelanocortin 2 receptor accessory protein | Retai (1–4 %) | 1 ligoje |
| NNTnicotinamide nucleotide transhydrogenase | Retai (1–4 %) | 1 ligoje |
| STARsteroidogenic acute regulatory protein | Retai (1–4 %) | 1 ligoje |
| TXNRD2thioredoxin reductase 2 | Retai (1–4 %) | 1 ligoje |
| ADGRG2adhesion G protein-coupled receptor G2 | Neužfiksuota | 1 ligoje |
| ANOS1anosmin 1 | Neužfiksuota | 1 ligoje |
| BCL10BCL10 immune signaling adaptor | Neužfiksuota | 1 ligoje |
| BMP2bone morphogenetic protein 2 | Neužfiksuota | 1 ligoje |
| BPY2basic charge Y-linked 2 | Neužfiksuota | 1 ligoje |
| CDY1chromodomain Y-linked 1 | Neužfiksuota | 1 ligoje |
| CDY2Achromodomain Y-linked 2A | Neužfiksuota | 1 ligoje |
| CEP19centrosomal protein 19 | Neužfiksuota | 1 ligoje |
| CFAP221cilia and flagella associated protein 221 | Neužfiksuota | 1 ligoje |
| DAZ1deleted in azoospermia 1 | Neužfiksuota | 1 ligoje |
| DAZ2deleted in azoospermia 2 | Neužfiksuota | 1 ligoje |
| DAZ3deleted in azoospermia 3 | Neužfiksuota | 1 ligoje |
| DDX3YDEAD-box helicase 3 Y-linked | Neužfiksuota | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Neužfiksuota | 1 ligoje |
| HFEhomeostatic iron regulator | Neužfiksuota | 1 ligoje |
| HJVhemojuvelin BMP co-receptor | Neužfiksuota | 1 ligoje |
| HSFY1heat shock transcription factor Y-linked 1 | Neužfiksuota | 1 ligoje |
| KDM5Dlysine demethylase 5D | Neužfiksuota | 1 ligoje |
| KITKIT proto-oncogene, receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| MCM8minichromosome maintenance 8 homologous recombination repair factor | Neužfiksuota | 1 ligoje |
| MSH4mutS homolog 4 | Neužfiksuota | 1 ligoje |
| PRYPTPN13 like Y-linked | Neužfiksuota | 1 ligoje |
| PRY2PTPN13 like Y-linked 2 | Neužfiksuota | 1 ligoje |
| RBMY1A1RNA binding motif protein Y-linked family 1 member A1 | Neužfiksuota | 1 ligoje |
| RPS4Y2ribosomal protein S4 Y-linked 2 | Neužfiksuota | 1 ligoje |
| SEMA3Asemaphorin 3A | Neužfiksuota | 1 ligoje |
| STK11serine/threonine kinase 11 | Neužfiksuota | 1 ligoje |
| USP9Yubiquitin specific peptidase 9 Y-linked | Neužfiksuota | 1 ligoje |
| VCYvariable charge Y-linked | Neužfiksuota | 1 ligoje |
| XKRYXK related, Y-linked (pseudogene) | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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