Požymis
Ambiguous external genitalia
Klinikinis pavadinimas: Ambiguous genitalia
A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
Santrauka
- Taip pat vadinama
- Ambiguous external genitalia at birth, Intersex genitalia
- Kūno sistema
- Abnormality of the genitourinary system
Atskaitos genomasGRCh38hg38
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Įsigyti savo Genome Test121 genas susijęs su Ambiguous external genitalia
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Ambiguous external genitalia. 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 |
|---|---|---|
| B9D1B9 domain containing 1 | Visada | 2 ligose |
| CYB5Acytochrome b5 type A | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 2 ligose |
| FREM2FRAS1 related extracellular matrix 2 | Visada | 2 ligose |
| NR2F2nuclear receptor subfamily 2 group F member 2 | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| ZMYM3zinc finger MYM-type containing 3 | Visada | 1 ligoje |
| ARXaristaless related homeobox | Labai dažnai (80–99%) | 2 ligose |
| ATRXATRX chromatin remodeler | Labai dažnai (80–99%) | 1 ligoje |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Labai dažnai (80–99%) | 1 ligoje |
| DHX37DEAH-box helicase 37 | Labai dažnai (80–99%) | 2 ligose |
| GATA4GATA binding protein 4 | Labai dažnai (80–99%) | 2 ligose |
| HSD17B3hydroxysteroid 17-beta dehydrogenase 3 | Labai dažnai (80–99%) | 1 ligoje |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | 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%) | 6 ligose |
| RIPK4receptor interacting serine/threonine kinase 4 | Labai dažnai (80–99%) | 2 ligose |
| SOX3SRY-box transcription factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Labai dažnai (80–99%) | 5 ligose |
| SRD5A2steroid 5 alpha-reductase 2 | Labai dažnai (80–99%) | 1 ligoje |
| SRYsex determining region Y | Labai dažnai (80–99%) | 5 ligose |
| TOE1target of EGR1, exonuclease | Labai dažnai (80–99%) | 2 ligose |
| TSPYL1TSPY like 1 | Labai dažnai (80–99%) | 1 ligoje |
| VAMP7vesicle associated membrane protein 7 | Labai dažnai (80–99%) | 1 ligoje |
| WT1WT1 transcription factor | Labai dažnai (80–99%) | 4 ligose |
| WWOXWW domain containing oxidoreductase | Labai dažnai (80–99%) | 1 ligoje |
| ZFPM2zinc finger protein, FOG family member 2 | Labai dažnai (80–99%) | 2 ligose |
| ARandrogen receptor | Dažnai (30–79%) | 1 ligoje |
| B9D2B9 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| CTU2cytosolic thiouridylase subunit 2 | Dažnai (30–79%) | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Dažnai (30–79%) | 2 ligose |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Dažnai (30–79%) | 2 ligose |
| DYNC2I1dynein 2 intermediate chain 1 | Dažnai (30–79%) | 2 ligose |
| DYNC2I2dynein 2 intermediate chain 2 | Dažnai (30–79%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Dažnai (30–79%) | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| GRIP1glutamate receptor interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 81 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| IFT80intraflagellar transport 80 | Dažnai (30–79%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| RPGRIP1RPGR interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Dažnai (30–79%) | 1 ligoje |
| TCTN1tectonic family member 1 | Dažnai (30–79%) | 1 ligoje |
| TCTN2tectonic family member 2 | Dažnai (30–79%) | 2 ligose |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 1 ligoje |
| TMEM107transmembrane protein 107 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 1 ligoje |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Dažnai (30–79%) | 1 ligoje |
| TMEM67transmembrane protein 67 | Dažnai (30–79%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Dažnai (30–79%) | 2 ligose |
| TXNDC15thioredoxin domain containing 15 | Dažnai (30–79%) | 2 ligose |
| WDR35WD repeat domain 35 | Dažnai (30–79%) | 1 ligoje |
| BDNFbrain derived neurotrophic factor | Kartais (5–29%) | 1 ligoje |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Kartais (5–29%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Kartais (5–29%) | 2 ligose |
| BUB3BUB3 mitotic checkpoint protein | Kartais (5–29%) | 1 ligoje |
| CDONcell adhesion associated, oncogene regulated | Kartais (5–29%) | 1 ligoje |
| CEP41centrosomal protein 41 | Kartais (5–29%) | 1 ligoje |
| CEP57centrosomal protein 57 | Kartais (5–29%) | 1 ligoje |
| CKAP2Lcytoskeleton associated protein 2L | Kartais (5–29%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Kartais (5–29%) | 1 ligoje |
| CRIPTOcripto, EGF-CFC family member | Kartais (5–29%) | 1 ligoje |
| DHCR2424-dehydrocholesterol reductase | Kartais (5–29%) | 1 ligoje |
| DISP1dispatched RND transporter family member 1 | Kartais (5–29%) | 1 ligoje |
| DLL1delta like canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 1 ligoje |
| FOXH1forkhead box H1 | Kartais (5–29%) | 1 ligoje |
| FUZfuzzy planar cell polarity protein | Kartais (5–29%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Kartais (5–29%) | 1 ligoje |
| GAS1growth arrest specific 1 | Kartais (5–29%) | 1 ligoje |
| GLI2GLI family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| HCCSholocytochrome c synthase | Kartais (5–29%) | 1 ligoje |
| HOXD13homeobox D13 | Kartais (5–29%) | 1 ligoje |
| IGF2insulin like growth factor 2 | Kartais (5–29%) | 1 ligoje |
| IRF6interferon regulatory factor 6 | Kartais (5–29%) | 1 ligoje |
| KCNK3potassium two pore domain channel subfamily K member 3 | Kartais (5–29%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Kartais (5–29%) | 1 ligoje |
| NODALnodal growth differentiation factor | Kartais (5–29%) | 1 ligoje |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Kartais (5–29%) | 1 ligoje |
| PAX6paired box 6 | Kartais (5–29%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Kartais (5–29%) | 3 ligose |
| PTCH1patched 1 | Kartais (5–29%) | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Kartais (5–29%) | 1 ligoje |
| SIX3SIX homeobox 3 | Kartais (5–29%) | 1 ligoje |
| SUFUSUFU negative regulator of hedgehog signaling | Kartais (5–29%) | 1 ligoje |
| TGIF1TGFB induced factor homeobox 1 | Kartais (5–29%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Kartais (5–29%) | 1 ligoje |
| VANGL1VANGL planar cell polarity protein 1 | Kartais (5–29%) | 1 ligoje |
| ZIC2Zic family zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Retai (1–4 %) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Retai (1–4 %) | 2 ligose |
| TBC1D24TBC1 domain family member 24 | Retai (1–4 %) | 1 ligoje |
| AKR1C2aldo-keto reductase family 1 member C2 | Neužfiksuota | 1 ligoje |
| AKR1C4aldo-keto reductase family 1 member C4 | Neužfiksuota | 1 ligoje |
| BMP15bone morphogenetic protein 15 | Neužfiksuota | 1 ligoje |
| BNC1basonuclin zinc finger protein 1 | Neužfiksuota | 1 ligoje |
| CEP120centrosomal protein 120 | Neužfiksuota | 1 ligoje |
| CHD4chromodomain helicase DNA binding protein 4 | Neužfiksuota | 1 ligoje |
| CILK1ciliogenesis associated kinase 1 | Neužfiksuota | 1 ligoje |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Neužfiksuota | 1 ligoje |
| FIGLAfolliculogenesis specific bHLH transcription factor | Neužfiksuota | 1 ligoje |
| FSHRfollicle stimulating hormone receptor | Neužfiksuota | 1 ligoje |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Neužfiksuota | 1 ligoje |
| IFT81intraflagellar transport 81 | Neužfiksuota | 1 ligoje |
| MRPS22mitochondrial ribosomal protein S22 | Neužfiksuota | 1 ligoje |
| MSH4mutS homolog 4 | Neužfiksuota | 1 ligoje |
| MYRFmyelin regulatory factor | Neužfiksuota | 1 ligoje |
| NEK1NIMA related kinase 1 | Neužfiksuota | 1 ligoje |
| NUP107nucleoporin 107 | Neužfiksuota | 1 ligoje |
| PBX1PBX homeobox 1 | Neužfiksuota | 1 ligoje |
| POLR3HRNA polymerase III subunit H | Neužfiksuota | 1 ligoje |
| PSMC3IPPSMC3 interacting protein | Neužfiksuota | 1 ligoje |
| RSPO1R-spondin 1 | Neužfiksuota | 1 ligoje |
| SPIDRscaffold protein involved in DNA repair | Neužfiksuota | 1 ligoje |
| TRAIPTRAF interacting protein | Neužfiksuota | 1 ligoje |
| ZSWIM7zinc finger SWIM-type containing 7 | 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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