Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Primary amenorrhea, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test134 genes linked to Primary amenorrhea
Changes in these genes cause rare conditions in which Primary amenorrhea is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ANOS1anosmin 1 | Always | In 2 conditions |
| ARL6ARF like GTPase 6 | Always | In 1 condition |
| AXLAXL receptor tyrosine kinase | Always | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Always | In 1 condition |
| BMP15bone morphogenetic protein 15 | Always | In 2 conditions |
| BMPR1Bbone morphogenetic protein receptor type 1B | Always | In 1 condition |
| CCDC141coiled-coil domain containing 141 | Always | In 2 conditions |
| CCDC28Bcoiled-coil domain containing 28B | Always | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Always | In 3 conditions |
| CPEcarboxypeptidase E | Always | In 1 condition |
| DCAF17DDB1 and CUL4 associated factor 17 | Always | In 1 condition |
| DHHdesert hedgehog signaling molecule | Always | In 3 conditions |
| DUSP6dual specificity phosphatase 6 | Always | In 3 conditions |
| ESR1estrogen receptor 1 | Always | In 2 conditions |
| ESR2estrogen receptor 2 | Always | In 1 condition |
| FEZF1FEZ family zinc finger 1 | Always | In 3 conditions |
| FGF17fibroblast growth factor 17 | Always | In 3 conditions |
| FGF8fibroblast growth factor 8 | Always | In 4 conditions |
| FGFR1fibroblast growth factor receptor 1 | Always | In 4 conditions |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Always | In 2 conditions |
| FSHBfollicle stimulating hormone subunit beta | Always | In 2 conditions |
| GATA3GATA binding protein 3 | Always | In 1 condition |
| GDF9growth differentiation factor 9 | Always | In 1 condition |
| GNRH1gonadotropin releasing hormone 1 | Always | In 3 conditions |
| GNRHRgonadotropin releasing hormone receptor | Always | In 2 conditions |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Always | In 4 conditions |
| KISS1KiSS-1 metastasis suppressor | Always | In 2 conditions |
| KISS1RKISS1 receptor | Always | In 3 conditions |
| MAU2MAU2 sister chromatid cohesion factor | Always | In 2 conditions |
| MCM9minichromosome maintenance 9 homologous recombination repair factor | Always | In 1 condition |
| NDNFneuron derived neurotrophic factor | Always | In 2 conditions |
| NINninein | Always | In 2 conditions |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Always | In 2 conditions |
| NUP107nucleoporin 107 | Always | In 2 conditions |
| PNPLA6patatin like domain 6, lysophospholipase | Always | In 1 condition |
| POF1BPOF1B actin binding protein | Always | In 1 condition |
| PROK2prokineticin 2 | Always | In 4 conditions |
| PROKR2prokineticin receptor 2 | Always | In 5 conditions |
| PSMC3IPPSMC3 interacting protein | Always | In 2 conditions |
| SEMA3Asemaphorin 3A | Always | In 3 conditions |
Show 94 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SEMA3Esemaphorin 3E | Always | In 1 condition |
| SOHLH1spermatogenesis and oogenesis specific basic helix-loop-helix 1 | Always | In 1 condition |
| SOX10SRY-box transcription factor 10 | Always | In 2 conditions |
| SPIDRscaffold protein involved in DNA repair | Always | In 2 conditions |
| SPRY4sprouty RTK signaling antagonist 4 | Always | In 3 conditions |
| SRA1steroid receptor RNA activator 1 | Always | In 1 condition |
| SRYsex determining region Y | Always | In 2 conditions |
| TAC3tachykinin precursor 3 | Always | In 3 conditions |
| TACR3tachykinin receptor 3 | Always | In 4 conditions |
| WDR11WD repeat domain 11 | Always | In 5 conditions |
| WNT4Wnt family member 4 | Always | In 2 conditions |
| WT1WT1 transcription factor | Always | In 3 conditions |
| YARS1tyrosyl-tRNA synthetase 1 | Always | In 1 condition |
| ZSWIM7zinc finger SWIM-type containing 7 | Always | In 2 conditions |
| ARandrogen receptor | Very often (80–99%) | In 3 conditions |
| BNC1basonuclin zinc finger protein 1 | Very often (80–99%) | In 1 condition |
| CYB5Acytochrome b5 type A | Very often (80–99%) | In 1 condition |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Very often (80–99%) | In 3 conditions |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Very often (80–99%) | In 2 conditions |
| DHX37DEAH-box helicase 37 | Very often (80–99%) | In 2 conditions |
| EMX2empty spiracles homeobox 2 | Very often (80–99%) | In 2 conditions |
| FIGLAfolliculogenesis specific bHLH transcription factor | Very often (80–99%) | In 2 conditions |
| FSHRfollicle stimulating hormone receptor | Very often (80–99%) | In 2 conditions |
| GATA4GATA binding protein 4 | Very often (80–99%) | In 1 condition |
| LEPleptin | Very often (80–99%) | In 2 conditions |
| LEPRleptin receptor | Very often (80–99%) | In 1 condition |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Very often (80–99%) | In 1 condition |
| MRPS22mitochondrial ribosomal protein S22 | Very often (80–99%) | In 2 conditions |
| MSH4mutS homolog 4 | Very often (80–99%) | In 1 condition |
| NHLH2nescient helix-loop-helix 2 | Very often (80–99%) | In 1 condition |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Very often (80–99%) | In 1 condition |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Very often (80–99%) | In 3 conditions |
| POLR3HRNA polymerase III subunit H | Very often (80–99%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Very often (80–99%) | In 1 condition |
| STAG3STAG3 cohesin complex component | Very often (80–99%) | In 1 condition |
| VAMP7vesicle associated membrane protein 7 | Very often (80–99%) | In 1 condition |
| WWOXWW domain containing oxidoreductase | Very often (80–99%) | In 1 condition |
| ZFPM2zinc finger protein, FOG family member 2 | Very often (80–99%) | In 1 condition |
| CLPPcaseinolytic mitochondrial matrix peptidase proteolytic subunit | Often (30–79%) | In 1 condition |
| DAP3death associated protein 3 | Often (30–79%) | In 1 condition |
| EIF2B4eukaryotic translation initiation factor 2B subunit delta | Often (30–79%) | In 1 condition |
| ERAL1Era like 12S mitochondrial rRNA chaperone 1 | Often (30–79%) | In 1 condition |
| GALTgalactose-1-phosphate uridylyltransferase | Often (30–79%) | In 1 condition |
| HROBhomologous recombination factor with OB-fold | Often (30–79%) | In 1 condition |
| LARS2leucyl-tRNA synthetase 2, mitochondrial | Often (30–79%) | In 1 condition |
| MAGEL2MAGE family member L2 | Often (30–79%) | In 5 conditions |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Often (30–79%) | In 2 conditions |
| NDNnecdin, MAGE family member | Often (30–79%) | In 3 conditions |
| OCA2OCA2 melanosomal transmembrane protein | Often (30–79%) | In 3 conditions |
| PEX1peroxisomal biogenesis factor 1 | Often (30–79%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Often (30–79%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Often (30–79%) | In 2 conditions |
| PPARGperoxisome proliferator activated receptor gamma | Often (30–79%) | In 2 conditions |
| PRORPprotein only RNase P catalytic subunit | Often (30–79%) | In 1 condition |
| SIM1SIM bHLH transcription factor 1 | Often (30–79%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Often (30–79%) | In 3 conditions |
| TP63tumor protein p63 | Often (30–79%) | In 2 conditions |
| TRMT10AtRNA methyltransferase 10A | Often (30–79%) | In 1 condition |
| BRD4bromodomain containing 4 | Sometimes (5–29%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Sometimes (5–29%) | In 1 condition |
| CTDP1CTD phosphatase 1 | Sometimes (5–29%) | In 1 condition |
| DCCDCC netrin 1 receptor | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| GPR161G protein-coupled receptor 161 | Sometimes (5–29%) | In 1 condition |
| HDAC8histone deacetylase 8 | Sometimes (5–29%) | In 1 condition |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Sometimes (5–29%) | In 1 condition |
| HESX1HESX homeobox 1 | Sometimes (5–29%) | In 2 conditions |
| IL17RDinterleukin 17 receptor D | Sometimes (5–29%) | In 1 condition |
| LHX4LIM homeobox 4 | Sometimes (5–29%) | In 1 condition |
| MGAMAX dimerization protein MGA | Sometimes (5–29%) | In 1 condition |
| MKRN3makorin ring finger protein 3 | Sometimes (5–29%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 1 condition |
| NOBOXNOBOX oogenesis homeobox | Sometimes (5–29%) | In 1 condition |
| NPAP1nuclear pore associated protein 1 | Sometimes (5–29%) | In 1 condition |
| PWAR1Prader Willi/Angelman region RNA 1 | Sometimes (5–29%) | In 1 condition |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Sometimes (5–29%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| RNF216ring finger protein 216 | Sometimes (5–29%) | In 1 condition |
| ROBO1roundabout guidance receptor 1 | Sometimes (5–29%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 1 condition |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Sometimes (5–29%) | In 1 condition |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Sometimes (5–29%) | In 1 condition |
| CAV1caveolin 1 | Not recorded | In 1 condition |
| CISD2CDGSH iron sulfur domain 2 | Not recorded | In 1 condition |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Not recorded | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Not recorded | In 1 condition |
| ITGA8integrin subunit alpha 8 | Not recorded | In 1 condition |
| MCM8minichromosome maintenance 8 homologous recombination repair factor | Not recorded | In 1 condition |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Not recorded | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Not recorded | In 1 condition |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Not recorded | In 1 condition |
| SYCE1synaptonemal complex central element protein 1 | Not recorded | In 1 condition |
| TWNKtwinkle mtDNA helicase | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks