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Tunnus

Bilateral cryptorchidism

Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.

HPO HP:0008689

Kokkuvõte

Teised nimetused
Cryptorchidism, bilateral
Kehasüsteem
Abnormality of the genitourinary system

62 geeni on seotud tunnusega Bilateral cryptorchidism

Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Bilateral cryptorchidism. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.

GeenKui sageli seda täheldatakseHaigused
ALX4ALX homeobox 4AlatiEsineb 1 haiguses
AMHanti-Mullerian hormoneAlatiEsineb 1 haiguses
AMHR2anti-Mullerian hormone receptor type 2AlatiEsineb 1 haiguses
ASH1LASH1 like histone lysine methyltransferaseAlatiEsineb 1 haiguses
CDH11cadherin 11AlatiEsineb 1 haiguses
CREBBPCREB binding lysine acetyltransferaseAlatiEsineb 1 haiguses
DHRS3dehydrogenase/reductase 3AlatiEsineb 1 haiguses
EP300EP300 lysine acetyltransferaseAlatiEsineb 1 haiguses
ERCC6ERCC excision repair 6, chromatin remodeling factorAlatiEsineb 1 haiguses
FGD1FYVE, RhoGEF and PH domain containing 1AlatiEsineb 1 haiguses
GTF2H5general transcription factor IIH subunit 5AlatiEsineb 1 haiguses
HYAL2hyaluronidase 2AlatiEsineb 1 haiguses
KCNK3potassium two pore domain channel subfamily K member 3AlatiEsineb 1 haiguses
KDM2Blysine demethylase 2BAlatiEsineb 1 haiguses
KLHL15kelch like family member 15AlatiEsineb 1 haiguses
MCM5minichromosome maintenance complex component 5AlatiEsineb 1 haiguses
MRAPmelanocortin 2 receptor accessory proteinAlatiEsineb 1 haiguses
PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthaseAlatiEsineb 1 haiguses
POLEDNA polymerase epsilon, catalytic subunitAlatiEsineb 1 haiguses
POLR1ARNA polymerase I subunit AAlatiEsineb 1 haiguses
RYR1ryanodine receptor 1AlatiEsineb 1 haiguses
SMARCAL1SNF2 related chromatin remodeling annealing helicase 1AlatiEsineb 1 haiguses
TM2D3TM2 domain containing 3AlatiEsineb 1 haiguses
TOP2BDNA topoisomerase II betaAlatiEsineb 1 haiguses
TWIST1twist family bHLH transcription factor 1AlatiEsineb 1 haiguses
WDR37WD repeat domain 37AlatiEsineb 1 haiguses
ARandrogen receptorVäga sageli (80–99%)Esineb 2 haiguses
ATP6V1AATPase H+ transporting V1 subunit ASageli (30–79%)Esineb 1 haiguses
C2CD3C2 domain containing 3 centriole elongation regulatorSageli (30–79%)Esineb 1 haiguses
COLEC10collectin subfamily member 10Sageli (30–79%)Esineb 1 haiguses
COLEC11collectin subfamily member 11Sageli (30–79%)Esineb 1 haiguses
CPLANE1ciliogenesis and planar polarity effector complex subunit 1Sageli (30–79%)Esineb 1 haiguses
CYP17A1cytochrome P450 family 17 subfamily A member 1Sageli (30–79%)Esineb 1 haiguses
FAM149B1family with sequence similarity 149 member B1Sageli (30–79%)Esineb 1 haiguses
FDFT1farnesyl-diphosphate farnesyltransferase 1Sageli (30–79%)Esineb 1 haiguses
IFT172intraflagellar transport 172Sageli (30–79%)Esineb 1 haiguses
IGBP1immunoglobulin binding protein 1Sageli (30–79%)Esineb 1 haiguses
KAT6Alysine acetyltransferase 6ASageli (30–79%)Esineb 1 haiguses
KIAA0753KIAA0753Sageli (30–79%)Esineb 1 haiguses
KIF7kinesin family member 7Sageli (30–79%)Esineb 1 haiguses
Näita veel 22 geeni
GeenKui sageli seda täheldatakseHaigused
MASP1MBL associated serine protease 1Sageli (30–79%)Esineb 1 haiguses
MEGF8multiple EGF like domains 8Sageli (30–79%)Esineb 1 haiguses
NFIXnuclear factor I XSageli (30–79%)Esineb 1 haiguses
NOTCH3notch receptor 3Sageli (30–79%)Esineb 1 haiguses
ODC1ornithine decarboxylase 1Sageli (30–79%)Esineb 1 haiguses
OFD1OFD1 centriole and centriolar satellite proteinSageli (30–79%)Esineb 1 haiguses
PDE6Dphosphodiesterase 6DSageli (30–79%)Esineb 1 haiguses
RPL10ribosomal protein L10Sageli (30–79%)Esineb 1 haiguses
SRYsex determining region YSageli (30–79%)Esineb 1 haiguses
TCTN3tectonic family member 3Sageli (30–79%)Esineb 1 haiguses
TMEM216transmembrane protein 216Sageli (30–79%)Esineb 1 haiguses
TMEM231transmembrane protein 231Sageli (30–79%)Esineb 1 haiguses
TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligaseSageli (30–79%)Esineb 1 haiguses
VPS50VPS50 subunit of EARP/GARPII complexSageli (30–79%)Esineb 1 haiguses
ZBTB20zinc finger and BTB domain containing 20Sageli (30–79%)Esineb 2 haiguses
ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2Sageli (30–79%)Esineb 1 haiguses
DNAJC19DnaJ heat shock protein family (Hsp40) member C19Mõnikord (5–29%)Esineb 1 haiguses
FARS2phenylalanyl-tRNA synthetase 2, mitochondrialMõnikord (5–29%)Esineb 1 haiguses
LSSlanosterol synthaseMõnikord (5–29%)Esineb 1 haiguses
NONOnon-POU domain containing octamer bindingMõnikord (5–29%)Esineb 1 haiguses
RIPK4receptor interacting serine/threonine kinase 4Mõnikord (5–29%)Esineb 1 haiguses
ATP6V1E1ATPase H+ transporting V1 subunit E1Pole registreeritudEsineb 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

Undescended testes

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.

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