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Trait

Abnormal connection between rectum and vagina

Clinical name: Rectovaginal fistula

The presence of a fistula between the vagina and the rectum.

HPO HP:0000143

Summary

Body system
Abnormality of the digestive systemAbnormality of the genitourinary system

24 genes linked to Abnormal connection between rectum and vagina

Changes in these genes cause rare conditions in which Abnormal connection between rectum and vagina 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.

GeneHow often it is seenConditions
AMOTL1angiomotin like 1AlwaysIn 1 condition
IL10RBinterleukin 10 receptor subunit betaAlwaysIn 1 condition
MED16mediator complex subunit 16AlwaysIn 1 condition
DACT1dishevelled binding antagonist of beta catenin 1Very often (80–99%)In 2 conditions
SALL1spalt like transcription factor 1Very often (80–99%)In 2 conditions
CCNQcyclin QSometimes (5–29%)In 1 condition
DDB1damage specific DNA binding protein 1Sometimes (5–29%)In 1 condition
LONP1lon peptidase 1, mitochondrialSometimes (5–29%)In 1 condition
PI4KAphosphatidylinositol 4-kinase alphaSometimes (5–29%)In 1 condition
POLR1BRNA polymerase I subunit BSometimes (5–29%)In 1 condition
POLR1CRNA polymerase I and III subunit CSometimes (5–29%)In 1 condition
POLR1DRNA polymerase I and III subunit DSometimes (5–29%)In 1 condition
SALL4spalt like transcription factor 4Sometimes (5–29%)In 2 conditions
SPINT2serine peptidase inhibitor, Kunitz type 2Sometimes (5–29%)In 1 condition
TCOF1treacle ribosome biogenesis factor 1Sometimes (5–29%)In 1 condition
TCTN3tectonic family member 3Sometimes (5–29%)In 1 condition
JAK3Janus kinase 3Rarely (1–4%)In 1 condition
FREM1FRAS1 related extracellular matrix 1Not recordedIn 1 condition
KIF7kinesin family member 7Not recordedIn 1 condition
MKKSMKKS centrosomal shuttling proteinNot recordedIn 1 condition
MNX1motor neuron and pancreas homeobox 1Not recordedIn 1 condition
RECQL4RecQ like helicase 4Not recordedIn 1 condition
RNU12RNA, U12 small nuclearNot recordedIn 1 condition
UBR1ubiquitin protein ligase E3 component n-recognin 1Not recordedIn 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

Rectal fistulaVaginal fistula

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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