Tunnus
Smaller than typical growth of scrotum
Kliiniline nimetus: Small scrotum
Apparently small scrotum for age.
Kokkuvõte
- Teised nimetused
- Underdeveloped scrotum, Hypoplastic scrotum, Scrotal hypoplasia
- Kehasüsteem
- Abnormality of the genitourinary system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Smaller than typical growth of scrotum, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test72 geeni on seotud tunnusega Smaller than typical growth of scrotum
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Smaller than typical growth of scrotum. 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 |
|---|---|---|
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Alati | Esineb 1 haiguses |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alati | Esineb 1 haiguses |
| GINS3GINS complex subunit 3 | Alati | Esineb 1 haiguses |
| GRIP1glutamate receptor interacting protein 1 | Alati | Esineb 2 haiguses |
| KAT6Blysine acetyltransferase 6B | Alati | Esineb 2 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Alati | Esineb 1 haiguses |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Alati | Esineb 2 haiguses |
| TM2D3TM2 domain containing 3 | Alati | Esineb 1 haiguses |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PHF6PHD finger protein 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOX9SRY-box transcription factor 9 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SRD5A2steroid 5 alpha-reductase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SRYsex determining region Y | Väga sageli (80–99%) | Esineb 1 haiguses |
| TSPYL1TSPY like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ALX4ALX homeobox 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ANOS1anosmin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ARCN1archain 1 coat protein complex I subunit delta | Sageli (30–79%) | Esineb 1 haiguses |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FREM2FRAS1 related extracellular matrix 2 | Sageli (30–79%) | Esineb 1 haiguses |
| IRF6interferon regulatory factor 6 | Sageli (30–79%) | Esineb 2 haiguses |
| MAGEL2MAGE family member L2 | Sageli (30–79%) | Esineb 5 haiguses |
| NDNnecdin, MAGE family member | Sageli (30–79%) | Esineb 3 haiguses |
| NECTIN1nectin cell adhesion molecule 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Sageli (30–79%) | Esineb 3 haiguses |
| RSPO2R-spondin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SIM1SIM bHLH transcription factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sageli (30–79%) | Esineb 3 haiguses |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| TBC1D20TBC1 domain family member 20 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX3T-box transcription factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TBX4T-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| WNT3Wnt family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| WNT7AWnt family member 7A | Sageli (30–79%) | Esineb 1 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IER3IP1immediate early response 3 interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNK3potassium two pore domain channel subfamily K member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPRE2microtubule associated protein RP/EB family member 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
Näita veel 32 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| MYH3myosin heavy chain 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1BRNA polymerase I subunit B | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1CRNA polymerase I and III subunit C | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1DRNA polymerase I and III subunit D | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBBtubulin beta class I | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLI3GLI family zinc finger 3 | Harva (1–4%) | Esineb 1 haiguses |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Pole registreeritud | Esineb 1 haiguses |
| BLTP1bridge-like lipid transfer protein family member 1 | Pole registreeritud | Esineb 1 haiguses |
| BMP4bone morphogenetic protein 4 | Pole registreeritud | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Pole registreeritud | Esineb 1 haiguses |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Pole registreeritud | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Pole registreeritud | Esineb 1 haiguses |
| MKRN3makorin ring finger protein 3 | Pole registreeritud | Esineb 1 haiguses |
| NPAP1nuclear pore associated protein 1 | Pole registreeritud | Esineb 1 haiguses |
| OPHN1oligophrenin 1 | Pole registreeritud | Esineb 1 haiguses |
| ORC6origin recognition complex subunit 6 | Pole registreeritud | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Pole registreeritud | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Pole registreeritud | Esineb 1 haiguses |
| PWAR1Prader Willi/Angelman region RNA 1 | Pole registreeritud | Esineb 1 haiguses |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Pole registreeritud | Esineb 1 haiguses |
| RAB18RAB18, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Pole registreeritud | Esineb 1 haiguses |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Pole registreeritud | Esineb 1 haiguses |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | 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.
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