Tunnus
Ambiguous external genitalia
Kliiniline nimetus: 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.
Kokkuvõte
- Teised nimetused
- Ambiguous external genitalia at birth, Intersex genitalia
- Kehasüsteem
- Abnormality of the genitourinary system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Ambiguous external genitalia, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test121 geeni on seotud tunnusega Ambiguous external genitalia
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Ambiguous external genitalia. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| B9D1B9 domain containing 1 | Alati | Esineb 2 haiguses |
| CYB5Acytochrome b5 type A | Alati | Esineb 1 haiguses |
| FDXRferredoxin reductase | Alati | Esineb 2 haiguses |
| FREM2FRAS1 related extracellular matrix 2 | Alati | Esineb 2 haiguses |
| NR2F2nuclear receptor subfamily 2 group F member 2 | Alati | Esineb 1 haiguses |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alati | Esineb 1 haiguses |
| ZMYM3zinc finger MYM-type containing 3 | Alati | Esineb 1 haiguses |
| ARXaristaless related homeobox | Väga sageli (80–99%) | Esineb 2 haiguses |
| ATRXATRX chromatin remodeler | Väga sageli (80–99%) | Esineb 1 haiguses |
| CYP11B1cytochrome P450 family 11 subfamily B member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DHX37DEAH-box helicase 37 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GATA4GATA binding protein 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HSD17B3hydroxysteroid 17-beta dehydrogenase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Väga sageli (80–99%) | Esineb 6 haiguses |
| RIPK4receptor interacting serine/threonine kinase 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SOX3SRY-box transcription factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Väga sageli (80–99%) | Esineb 5 haiguses |
| SRD5A2steroid 5 alpha-reductase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SRYsex determining region Y | Väga sageli (80–99%) | Esineb 5 haiguses |
| TOE1target of EGR1, exonuclease | Väga sageli (80–99%) | Esineb 2 haiguses |
| TSPYL1TSPY like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| VAMP7vesicle associated membrane protein 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WT1WT1 transcription factor | Väga sageli (80–99%) | Esineb 4 haiguses |
| WWOXWW domain containing oxidoreductase | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZFPM2zinc finger protein, FOG family member 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ARandrogen receptor | Sageli (30–79%) | Esineb 1 haiguses |
| B9D2B9 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sageli (30–79%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 1 haiguses |
| CSPP1centrosome and spindle pole associated protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CTU2cytosolic thiouridylase subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Sageli (30–79%) | Esineb 2 haiguses |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FAAP100FA core complex associated protein 100 | Sageli (30–79%) | Esineb 1 haiguses |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GRIP1glutamate receptor interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 81 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| IFT80intraflagellar transport 80 | Sageli (30–79%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRIP1RPGR interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RPGRIP1LRPGRIP1 like | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN1tectonic family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN2tectonic family member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TCTN3tectonic family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM107transmembrane protein 107 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM231transmembrane protein 231 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM237transmembrane protein 237 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM67transmembrane protein 67 | Sageli (30–79%) | Esineb 1 haiguses |
| TWIST2twist family bHLH transcription factor 2 | Sageli (30–79%) | Esineb 2 haiguses |
| TXNDC15thioredoxin domain containing 15 | Sageli (30–79%) | Esineb 2 haiguses |
| WDR35WD repeat domain 35 | Sageli (30–79%) | Esineb 1 haiguses |
| BDNFbrain derived neurotrophic factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Mõnikord (5–29%) | Esineb 2 haiguses |
| BUB3BUB3 mitotic checkpoint protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDONcell adhesion associated, oncogene regulated | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP41centrosomal protein 41 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP57centrosomal protein 57 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CKAP2Lcytoskeleton associated protein 2L | Mõnikord (5–29%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRIPTOcripto, EGF-CFC family member | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR2424-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DISP1dispatched RND transporter family member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLL1delta like canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXH1forkhead box H1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FUZfuzzy planar cell polarity protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZD2frizzled class receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GAS1growth arrest specific 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCCSholocytochrome c synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| HOXD13homeobox D13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IGF2insulin like growth factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IRF6interferon regulatory factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNK3potassium two pore domain channel subfamily K member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NODALnodal growth differentiation factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAX6paired box 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Mõnikord (5–29%) | Esineb 3 haiguses |
| PTCH1patched 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SHHsonic hedgehog signaling molecule | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIX3SIX homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Mõnikord (5–29%) | Esineb 1 haiguses |
| TGIF1TGFB induced factor homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIP13thyroid hormone receptor interactor 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VANGL1VANGL planar cell polarity protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZIC2Zic family zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Harva (1–4%) | Esineb 1 haiguses |
| GLI3GLI family zinc finger 3 | Harva (1–4%) | Esineb 2 haiguses |
| TBC1D24TBC1 domain family member 24 | Harva (1–4%) | Esineb 1 haiguses |
| AKR1C2aldo-keto reductase family 1 member C2 | Pole registreeritud | Esineb 1 haiguses |
| AKR1C4aldo-keto reductase family 1 member C4 | Pole registreeritud | Esineb 1 haiguses |
| BMP15bone morphogenetic protein 15 | Pole registreeritud | Esineb 1 haiguses |
| BNC1basonuclin zinc finger protein 1 | Pole registreeritud | Esineb 1 haiguses |
| CEP120centrosomal protein 120 | Pole registreeritud | Esineb 1 haiguses |
| CHD4chromodomain helicase DNA binding protein 4 | Pole registreeritud | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Pole registreeritud | Esineb 1 haiguses |
| FIGLAfolliculogenesis specific bHLH transcription factor | Pole registreeritud | Esineb 1 haiguses |
| FSHRfollicle stimulating hormone receptor | Pole registreeritud | Esineb 1 haiguses |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Pole registreeritud | Esineb 1 haiguses |
| IFT81intraflagellar transport 81 | Pole registreeritud | Esineb 1 haiguses |
| MRPS22mitochondrial ribosomal protein S22 | Pole registreeritud | Esineb 1 haiguses |
| MSH4mutS homolog 4 | Pole registreeritud | Esineb 1 haiguses |
| MYRFmyelin regulatory factor | Pole registreeritud | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| NUP107nucleoporin 107 | Pole registreeritud | Esineb 1 haiguses |
| PBX1PBX homeobox 1 | Pole registreeritud | Esineb 1 haiguses |
| POLR3HRNA polymerase III subunit H | Pole registreeritud | Esineb 1 haiguses |
| PSMC3IPPSMC3 interacting protein | Pole registreeritud | Esineb 1 haiguses |
| RSPO1R-spondin 1 | Pole registreeritud | Esineb 1 haiguses |
| SPIDRscaffold protein involved in DNA repair | Pole registreeritud | Esineb 1 haiguses |
| TRAIPTRAF interacting protein | Pole registreeritud | Esineb 1 haiguses |
| ZSWIM7zinc finger SWIM-type containing 7 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast