Trait
Abnormal absence of menstruation
Clinical name: Amenorrhea
Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
Summary
- Body system
- Abnormality of the genitourinary system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test46 genes linked to Abnormal absence of menstruation
Changes in these genes cause rare conditions in which Abnormal absence of menstruation 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 |
|---|---|---|
| HARS2histidyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| HFM1helicase for meiosis 1 | Always | In 1 condition |
| INSRinsulin receptor | Always | In 1 condition |
| MSH5mutS homolog 5 | Always | In 1 condition |
| POLG2DNA polymerase gamma 2, accessory subunit | Always | In 1 condition |
| AIPAHR interacting HSP90 co-chaperone | Very often (80–99%) | In 2 conditions |
| CDH23cadherin related 23 | Very often (80–99%) | In 2 conditions |
| MEN1menin 1 | Very often (80–99%) | In 3 conditions |
| AKT1AKT serine/threonine kinase 1 | Often (30–79%) | In 1 condition |
| ATRXATRX chromatin remodeler | Often (30–79%) | In 1 condition |
| BAP1BRCA1 associated deubiquitinase 1 | Often (30–79%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| FOXA2forkhead box A2 | Often (30–79%) | In 1 condition |
| FOXL2forkhead box L2 | Often (30–79%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Often (30–79%) | In 1 condition |
| HESX1HESX homeobox 1 | Often (30–79%) | In 1 condition |
| LHX4LIM homeobox 4 | Often (30–79%) | In 1 condition |
| NF2NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | Often (30–79%) | In 1 condition |
| NR3C1nuclear receptor subfamily 3 group C member 1 | Often (30–79%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Often (30–79%) | In 1 condition |
| PDGFBplatelet derived growth factor subunit B | Often (30–79%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Often (30–79%) | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Often (30–79%) | In 1 condition |
| PRLRprolactin receptor | Often (30–79%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Often (30–79%) | In 2 conditions |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Often (30–79%) | In 1 condition |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Often (30–79%) | In 1 condition |
| SMOsmoothened, frizzled class receptor | Often (30–79%) | In 1 condition |
| SOX3SRY-box transcription factor 3 | Often (30–79%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Often (30–79%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Often (30–79%) | In 1 condition |
| TP53tumor protein p53 | Often (30–79%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Often (30–79%) | In 1 condition |
| USP48ubiquitin specific peptidase 48 | Often (30–79%) | In 1 condition |
| USP8ubiquitin specific peptidase 8 | Often (30–79%) | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Sometimes (5–29%) | In 1 condition |
| BMP6bone morphogenetic protein 6 | Sometimes (5–29%) | In 1 condition |
| CDKN1Bcyclin dependent kinase inhibitor 1B | Sometimes (5–29%) | In 1 condition |
| CDKN2Bcyclin dependent kinase inhibitor 2B | Sometimes (5–29%) | In 1 condition |
| HFEhomeostatic iron regulator | Sometimes (5–29%) | In 2 conditions |
Show 6 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SLC29A3solute carrier family 29 member 3 | Sometimes (5–29%) | In 1 condition |
| TFR2transferrin receptor 2 | Sometimes (5–29%) | In 2 conditions |
| BMP2bone morphogenetic protein 2 | Not recorded | In 1 condition |
| HJVhemojuvelin BMP co-receptor | Not recorded | In 1 condition |
| LIG4DNA ligase 4 | Not recorded | In 1 condition |
| WNT7AWnt family member 7A | 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.
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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.
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