Trait
Abnormal anus position
Clinical name: Ectopic anus
Abnormal displacement or malposition of the anus.
Summary
- Also called
- Anus malposition
- Body system
- Abnormality of the digestive system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test25 genes linked to Abnormal anus position
Changes in these genes cause rare conditions in which Abnormal anus position 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 |
|---|---|---|
| HES7hes family bHLH transcription factor 7 | Always | In 1 condition |
| RNU12RNA, U12 small nuclear | Very often (80–99%) | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Sometimes (5–29%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Sometimes (5–29%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Sometimes (5–29%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Sometimes (5–29%) | In 2 conditions |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Sometimes (5–29%) | In 1 condition |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| FREM2FRAS1 related extracellular matrix 2 | Sometimes (5–29%) | In 1 condition |
| GDF3growth differentiation factor 3 | Sometimes (5–29%) | In 1 condition |
| GDF6growth differentiation factor 6 | Sometimes (5–29%) | In 1 condition |
| GRIP1glutamate receptor interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| IFT80intraflagellar transport 80 | Sometimes (5–29%) | In 1 condition |
| MEOX1mesenchyme homeobox 1 | Sometimes (5–29%) | In 1 condition |
| MID1midline 1 | Sometimes (5–29%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Sometimes (5–29%) | In 1 condition |
| NXNnucleoredoxin | Sometimes (5–29%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sometimes (5–29%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Sometimes (5–29%) | In 1 condition |
| TBX3T-box transcription factor 3 | Sometimes (5–29%) | In 1 condition |
| VPS35LVPS35 endosomal protein sorting factor like | Sometimes (5–29%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Sometimes (5–29%) | In 1 condition |
| WDR35WD repeat domain 35 | Sometimes (5–29%) | 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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