Trait

Cleft of scrotum

Clinical name: Bifid scrotum

Midline indentation or cleft of the scrotum.

HPO HP:0000048

Also called: Scrotal cleft
Body system: Abnormality of the genitourinary system

This page as data

Add .json to the page's address, or ask for application/json, to read it as JSON.

library(jsonlite)

url <- "https://dantelabs.com/traits/bifid-scrotum.json"
page <- fromJSON(url)
page$trait$name

Open the JSON

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37 genes linked to Cleft of scrotum

Changes in these genes cause rare conditions in which Cleft of scrotum 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
CDH11cadherin 11	Always	In 1 condition
CYB5Acytochrome b5 type A	Always	In 1 condition
FAT4FAT atypical cadherin 4	Always	In 1 condition
NR5A1nuclear receptor subfamily 5 group A member 1	Very often (80–99%)	In 1 condition
SOX9SRY-box transcription factor 9	Very often (80–99%)	In 3 conditions
SRD5A2steroid 5 alpha-reductase 2	Very often (80–99%)	In 2 conditions
SRYsex determining region Y	Very often (80–99%)	In 2 conditions
CHD7chromodomain helicase DNA binding protein 7	Often (30–79%)	In 1 condition
FGFR2fibroblast growth factor receptor 2	Often (30–79%)	In 2 conditions
FZD2frizzled class receptor 2	Often (30–79%)	In 1 condition
IRF6interferon regulatory factor 6	Often (30–79%)	In 2 conditions
MAMLD1mastermind like domain containing 1	Often (30–79%)	In 2 conditions
MTM1myotubularin 1	Often (30–79%)	In 1 condition
SEMA3Esemaphorin 3E	Often (30–79%)	In 1 condition
ARandrogen receptor	Sometimes (5–29%)	In 3 conditions
CDKN1Ccyclin dependent kinase inhibitor 1C	Sometimes (5–29%)	In 1 condition
CYP17A1cytochrome P450 family 17 subfamily A member 1	Sometimes (5–29%)	In 1 condition
DACT1dishevelled binding antagonist of beta catenin 1	Sometimes (5–29%)	In 1 condition
HMGA2high mobility group AT-hook 2	Sometimes (5–29%)	In 1 condition
HOXD13homeobox D13	Sometimes (5–29%)	In 1 condition
HSD17B3hydroxysteroid 17-beta dehydrogenase 3	Sometimes (5–29%)	In 1 condition
HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	Sometimes (5–29%)	In 1 condition
IGF2insulin like growth factor 2	Sometimes (5–29%)	In 1 condition
KIFBPkinesin family binding protein	Sometimes (5–29%)	In 1 condition
MID1midline 1	Sometimes (5–29%)	In 1 condition
PLAG1PLAG1 zinc finger	Sometimes (5–29%)	In 1 condition
SALL1spalt like transcription factor 1	Sometimes (5–29%)	In 2 conditions
TSHZ3teashirt zinc finger homeobox 3	Sometimes (5–29%)	In 1 condition
SPTBN1spectrin beta, non-erythrocytic 1	Rarely (1–4%)	In 1 condition
ZEB2zinc finger E-box binding homeobox 2	Rarely (1–4%)	In 3 conditions
BUB1BBUB1 mitotic checkpoint serine/threonine kinase B	Not recorded	In 1 condition
COLEC10collectin subfamily member 10	Not recorded	In 1 condition
DHCR77-dehydrocholesterol reductase	Not recorded	In 1 condition
HOXA13homeobox A13	Not recorded	In 1 condition
MYRFmyelin regulatory factor	Not recorded	In 1 condition
PORcytochrome p450 oxidoreductase	Not recorded	In 1 condition
UPB1beta-ureidopropionase 1	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.

Broader traits

Abnormal scrotum morphology

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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