Trait
Anorectal anomaly
An abnormality of the anus or rectum.
Summary
- Body system
- Abnormality of the digestive system
Reference genomeGRCh38hg38
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Get my Genome Test33 genes linked to Anorectal anomaly
Changes in these genes cause rare conditions in which Anorectal anomaly 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 |
|---|---|---|
| NBNnibrin | Very often (80–99%) | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Often (30–79%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Often (30–79%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Often (30–79%) | In 1 condition |
| CTC1CST telomere replication complex component 1 | Often (30–79%) | In 1 condition |
| DKC1dyskerin pseudouridine synthase 1 | Often (30–79%) | In 1 condition |
| FRAS1Fraser extracellular matrix complex subunit 1 | Often (30–79%) | In 1 condition |
| FREM2FRAS1 related extracellular matrix 2 | Often (30–79%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Often (30–79%) | In 1 condition |
| GRIP1glutamate receptor interacting protein 1 | Often (30–79%) | In 1 condition |
| HIRAhistone cell cycle regulator | Often (30–79%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Often (30–79%) | In 1 condition |
| NHP2NHP2 ribonucleoprotein | Often (30–79%) | In 1 condition |
| NOP10NOP10 ribonucleoprotein | Often (30–79%) | In 1 condition |
| NPM1nucleophosmin 1 | Often (30–79%) | In 1 condition |
| PARNpoly(A)-specific ribonuclease | Often (30–79%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Often (30–79%) | In 1 condition |
| RTEL1regulator of telomere elongation helicase 1 | Often (30–79%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Often (30–79%) | In 1 condition |
| TBX1T-box transcription factor 1 | Often (30–79%) | In 1 condition |
| TERCtelomerase RNA component | Often (30–79%) | In 1 condition |
| TERTtelomerase reverse transcriptase | Often (30–79%) | In 1 condition |
| TINF2TERF1 interacting nuclear factor 2 | Often (30–79%) | In 1 condition |
| TYMSthymidylate synthetase | Often (30–79%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Often (30–79%) | In 1 condition |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| WRAP53WD repeat containing antisense to TP53 | Often (30–79%) | In 1 condition |
| CHN1chimerin 1 | Sometimes (5–29%) | In 1 condition |
| HOXD13homeobox D13 | Sometimes (5–29%) | In 1 condition |
| MAFBMAF bZIP transcription factor B | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| KDM6Alysine demethylase 6A | Rarely (1–4%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Rarely (1–4%) | 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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