Trait
Epispadias
Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias.
Summary
- Body system
- Abnormality of the genitourinary system
Reference genomeGRCh38hg38
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Get my Genome Test30 genes linked to Epispadias
Changes in these genes cause rare conditions in which Epispadias 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 |
|---|---|---|
| TOP2BDNA topoisomerase II beta | Always | In 1 condition |
| ISL1ISL LIM homeobox 1 | Very often (80–99%) | In 1 condition |
| TP63tumor protein p63 | Very often (80–99%) | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | Often (30–79%) | In 2 conditions |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Often (30–79%) | In 1 condition |
| EVCEvC ciliary complex subunit 1 | Often (30–79%) | In 2 conditions |
| EVC2EvC ciliary complex subunit 2 | Often (30–79%) | In 2 conditions |
| GLI1GLI family zinc finger 1 | Often (30–79%) | In 1 condition |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Often (30–79%) | In 1 condition |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Often (30–79%) | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Often (30–79%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Sometimes (5–29%) | In 1 condition |
| CDC45cell division cycle 45 | Sometimes (5–29%) | In 1 condition |
| CDC6cell division cycle 6 | Sometimes (5–29%) | In 1 condition |
| CDT1chromatin licensing and DNA replication factor 1 | Sometimes (5–29%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Sometimes (5–29%) | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Sometimes (5–29%) | In 1 condition |
| DVL3dishevelled segment polarity protein 3 | Sometimes (5–29%) | In 1 condition |
| FZD2frizzled class receptor 2 | Sometimes (5–29%) | In 1 condition |
| GMNNgeminin DNA replication inhibitor | Sometimes (5–29%) | In 1 condition |
| HCCSholocytochrome c synthase | Sometimes (5–29%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Sometimes (5–29%) | In 1 condition |
| ORC1origin recognition complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| ORC4origin recognition complex subunit 4 | Sometimes (5–29%) | In 1 condition |
| ORC6origin recognition complex subunit 6 | Sometimes (5–29%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Sometimes (5–29%) | In 1 condition |
| SMAD4SMAD family member 4 | Sometimes (5–29%) | In 1 condition |
| SRYsex determining region Y | Sometimes (5–29%) | In 1 condition |
| WNT5AWnt family member 5A | 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.
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.
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