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Požymis

Primary amenorrhea

HPO HP:0000786

Santrauka

Kūno sistema
Abnormality of the genitourinary system

56 condition reports read genes linked to this trait

Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.

Show 52 more reports

Every condition report

Vienu tyrimu sužinokite genus, susijusius su Primary amenorrhea, ir kitą jūsų genomo dalį.

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134 genų susiję su Primary amenorrhea

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Primary amenorrhea. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.

GenasKaip dažnai pasireiškiaLigos
ANOS1anosmin 1Visada2 ligose
ARL6ARF like GTPase 6Visada1 ligoje
AXLAXL receptor tyrosine kinaseVisada1 ligoje
BBS1Bardet-Biedl syndrome 1Visada1 ligoje
BMP15bone morphogenetic protein 15Visada2 ligose
BMPR1Bbone morphogenetic protein receptor type 1BVisada1 ligoje
CCDC141coiled-coil domain containing 141Visada2 ligose
CCDC28Bcoiled-coil domain containing 28BVisada1 ligoje
CHD7chromodomain helicase DNA binding protein 7Visada3 ligose
CPEcarboxypeptidase EVisada1 ligoje
DCAF17DDB1 and CUL4 associated factor 17Visada1 ligoje
DHHdesert hedgehog signaling moleculeVisada3 ligose
DUSP6dual specificity phosphatase 6Visada3 ligose
ESR1estrogen receptor 1Visada2 ligose
ESR2estrogen receptor 2Visada1 ligoje
FEZF1FEZ family zinc finger 1Visada3 ligose
FGF17fibroblast growth factor 17Visada3 ligose
FGF8fibroblast growth factor 8Visada4 ligose
FGFR1fibroblast growth factor receptor 1Visada4 ligose
FLRT3fibronectin leucine rich transmembrane protein 3Visada2 ligose
FSHBfollicle stimulating hormone subunit betaVisada2 ligose
GATA3GATA binding protein 3Visada1 ligoje
GDF9growth differentiation factor 9Visada1 ligoje
GNRH1gonadotropin releasing hormone 1Visada3 ligose
GNRHRgonadotropin releasing hormone receptorVisada2 ligose
HS6ST1heparan sulfate 6-O-sulfotransferase 1Visada4 ligose
KISS1KiSS-1 metastasis suppressorVisada2 ligose
KISS1RKISS1 receptorVisada3 ligose
MAU2MAU2 sister chromatid cohesion factorVisada2 ligose
MCM9minichromosome maintenance 9 homologous recombination repair factorVisada1 ligoje
NDNFneuron derived neurotrophic factorVisada2 ligose
NINnineinVisada2 ligose
NSMFNMDA receptor synaptonuclear signaling and neuronal migration factorVisada2 ligose
NUP107nucleoporin 107Visada2 ligose
PNPLA6patatin like domain 6, lysophospholipaseVisada1 ligoje
POF1BPOF1B actin binding proteinVisada1 ligoje
PROK2prokineticin 2Visada4 ligose
PROKR2prokineticin receptor 2Visada5 ligose
PSMC3IPPSMC3 interacting proteinVisada2 ligose
SEMA3Asemaphorin 3AVisada3 ligose
Rodyti dar 94 genų
GenasKaip dažnai pasireiškiaLigos
SEMA3Esemaphorin 3EVisada1 ligoje
SOHLH1spermatogenesis and oogenesis specific basic helix-loop-helix 1Visada1 ligoje
SOX10SRY-box transcription factor 10Visada2 ligose
SPIDRscaffold protein involved in DNA repairVisada2 ligose
SPRY4sprouty RTK signaling antagonist 4Visada3 ligose
SRA1steroid receptor RNA activator 1Visada1 ligoje
SRYsex determining region YVisada2 ligose
TAC3tachykinin precursor 3Visada3 ligose
TACR3tachykinin receptor 3Visada4 ligose
WDR11WD repeat domain 11Visada5 ligose
WNT4Wnt family member 4Visada2 ligose
WT1WT1 transcription factorVisada3 ligose
YARS1tyrosyl-tRNA synthetase 1Visada1 ligoje
ZSWIM7zinc finger SWIM-type containing 7Visada2 ligose
ARandrogen receptorLabai dažnai (80–99%)3 ligose
BNC1basonuclin zinc finger protein 1Labai dažnai (80–99%)1 ligoje
CYB5Acytochrome b5 type ALabai dažnai (80–99%)1 ligoje
CYP17A1cytochrome P450 family 17 subfamily A member 1Labai dažnai (80–99%)3 ligose
CYP19A1cytochrome P450 family 19 subfamily A member 1Labai dažnai (80–99%)2 ligose
DHX37DEAH-box helicase 37Labai dažnai (80–99%)2 ligose
EMX2empty spiracles homeobox 2Labai dažnai (80–99%)2 ligose
FIGLAfolliculogenesis specific bHLH transcription factorLabai dažnai (80–99%)2 ligose
FSHRfollicle stimulating hormone receptorLabai dažnai (80–99%)2 ligose
GATA4GATA binding protein 4Labai dažnai (80–99%)1 ligoje
LEPleptinLabai dažnai (80–99%)2 ligose
LEPRleptin receptorLabai dažnai (80–99%)1 ligoje
MAP3K1mitogen-activated protein kinase kinase kinase 1Labai dažnai (80–99%)1 ligoje
MRPS22mitochondrial ribosomal protein S22Labai dažnai (80–99%)2 ligose
MSH4mutS homolog 4Labai dažnai (80–99%)1 ligoje
NHLH2nescient helix-loop-helix 2Labai dažnai (80–99%)1 ligoje
NR0B1nuclear receptor subfamily 0 group B member 1Labai dažnai (80–99%)1 ligoje
NR5A1nuclear receptor subfamily 5 group A member 1Labai dažnai (80–99%)3 ligose
POLR3HRNA polymerase III subunit HLabai dažnai (80–99%)1 ligoje
SOX9SRY-box transcription factor 9Labai dažnai (80–99%)1 ligoje
STAG3STAG3 cohesin complex componentLabai dažnai (80–99%)1 ligoje
VAMP7vesicle associated membrane protein 7Labai dažnai (80–99%)1 ligoje
WWOXWW domain containing oxidoreductaseLabai dažnai (80–99%)1 ligoje
ZFPM2zinc finger protein, FOG family member 2Labai dažnai (80–99%)1 ligoje
CLPPcaseinolytic mitochondrial matrix peptidase proteolytic subunitDažnai (30–79%)1 ligoje
DAP3death associated protein 3Dažnai (30–79%)1 ligoje
EIF2B4eukaryotic translation initiation factor 2B subunit deltaDažnai (30–79%)1 ligoje
ERAL1Era like 12S mitochondrial rRNA chaperone 1Dažnai (30–79%)1 ligoje
GALTgalactose-1-phosphate uridylyltransferaseDažnai (30–79%)1 ligoje
HROBhomologous recombination factor with OB-foldDažnai (30–79%)1 ligoje
LARS2leucyl-tRNA synthetase 2, mitochondrialDažnai (30–79%)1 ligoje
MAGEL2MAGE family member L2Dažnai (30–79%)5 ligose
MSTO1misato mitochondrial distribution and morphology regulator 1Dažnai (30–79%)2 ligose
NDNnecdin, MAGE family memberDažnai (30–79%)3 ligose
OCA2OCA2 melanosomal transmembrane proteinDažnai (30–79%)3 ligose
PEX1peroxisomal biogenesis factor 1Dažnai (30–79%)1 ligoje
PEX6peroxisomal biogenesis factor 6Dažnai (30–79%)1 ligoje
PORcytochrome p450 oxidoreductaseDažnai (30–79%)2 ligose
PPARGperoxisome proliferator activated receptor gammaDažnai (30–79%)2 ligose
PRORPprotein only RNase P catalytic subunitDažnai (30–79%)1 ligoje
SIM1SIM bHLH transcription factor 1Dažnai (30–79%)1 ligoje
SNRPNsmall nuclear ribonucleoprotein polypeptide NDažnai (30–79%)3 ligose
TP63tumor protein p63Dažnai (30–79%)2 ligose
TRMT10AtRNA methyltransferase 10ADažnai (30–79%)1 ligoje
BRD4bromodomain containing 4Kartais (5–29%)1 ligoje
CDONcell adhesion associated, oncogene regulatedKartais (5–29%)1 ligoje
CTDP1CTD phosphatase 1Kartais (5–29%)1 ligoje
DCCDCC netrin 1 receptorKartais (5–29%)1 ligoje
FBXO11F-box protein 11Kartais (5–29%)1 ligoje
GPR161G protein-coupled receptor 161Kartais (5–29%)1 ligoje
HDAC8histone deacetylase 8Kartais (5–29%)1 ligoje
HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2Kartais (5–29%)1 ligoje
HESX1HESX homeobox 1Kartais (5–29%)2 ligose
IL17RDinterleukin 17 receptor DKartais (5–29%)1 ligoje
LHX4LIM homeobox 4Kartais (5–29%)1 ligoje
MGAMAX dimerization protein MGAKartais (5–29%)1 ligoje
MKRN3makorin ring finger protein 3Kartais (5–29%)1 ligoje
NIPBLNIPBL cohesin loading factorKartais (5–29%)1 ligoje
NOBOXNOBOX oogenesis homeoboxKartais (5–29%)1 ligoje
NPAP1nuclear pore associated protein 1Kartais (5–29%)1 ligoje
PWAR1Prader Willi/Angelman region RNA 1Kartais (5–29%)1 ligoje
PWRN1Prader-Willi region non-protein coding RNA 1Kartais (5–29%)1 ligoje
RAD21RAD21 cohesin complex componentKartais (5–29%)1 ligoje
RNF216ring finger protein 216Kartais (5–29%)1 ligoje
ROBO1roundabout guidance receptor 1Kartais (5–29%)1 ligoje
SMC1Astructural maintenance of chromosomes 1AKartais (5–29%)1 ligoje
SMC3structural maintenance of chromosomes 3Kartais (5–29%)1 ligoje
SNORD115-1small nucleolar RNA, C/D box 115-1Kartais (5–29%)1 ligoje
SNORD116-1small nucleolar RNA, C/D box 116-1Kartais (5–29%)1 ligoje
CAV1caveolin 1Neužfiksuota1 ligoje
CISD2CDGSH iron sulfur domain 2Neužfiksuota1 ligoje
EIF2B1eukaryotic translation initiation factor 2B subunit alphaNeužfiksuota1 ligoje
HSD17B4hydroxysteroid 17-beta dehydrogenase 4Neužfiksuota1 ligoje
ITGA8integrin subunit alpha 8Neužfiksuota1 ligoje
MCM8minichromosome maintenance 8 homologous recombination repair factorNeužfiksuota1 ligoje
PCSK1proprotein convertase subtilisin/kexin type 1Neužfiksuota1 ligoje
POLGDNA polymerase gamma, catalytic subunitNeužfiksuota1 ligoje
SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1Neužfiksuota1 ligoje
SYCE1synaptonemal complex central element protein 1Neužfiksuota1 ligoje
TWNKtwinkle mtDNA helicaseNeužfiksuota1 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.

Platesni požymiai

Abnormal absence of menstruation

Iš kur tai žinoma

  • Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
  • Duomenų leidimas 2026.10.19-9814e911.

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