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Trait

Abnormal scrotum morphology

Any structural abnormality of the scrotum, i.e., the sac that contains the testes, epididymis, and the lower part of the spermatic cord.

HPO HP:0000045

Summary

Also called
Abnormality of the scrotum
Body system
Abnormality of the genitourinary system

18 genes linked to Abnormal scrotum morphology

Changes in these genes cause rare conditions in which Abnormal scrotum morphology 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
DHX37DEAH-box helicase 37Very often (80–99%)In 1 condition
GATA4GATA binding protein 4Very often (80–99%)In 1 condition
MAP3K1mitogen-activated protein kinase kinase kinase 1Very often (80–99%)In 1 condition
NR0B1nuclear receptor subfamily 0 group B member 1Very often (80–99%)In 1 condition
NR5A1nuclear receptor subfamily 5 group A member 1Very often (80–99%)In 1 condition
SOX9SRY-box transcription factor 9Very often (80–99%)In 1 condition
SRYsex determining region YVery often (80–99%)In 2 conditions
VAMP7vesicle associated membrane protein 7Very often (80–99%)In 1 condition
WT1WT1 transcription factorVery often (80–99%)In 1 condition
WWOXWW domain containing oxidoreductaseVery often (80–99%)In 1 condition
ZFPM2zinc finger protein, FOG family member 2Very often (80–99%)In 1 condition
CDKN1Ccyclin dependent kinase inhibitor 1COften (30–79%)In 1 condition
HMGA2high mobility group AT-hook 2Often (30–79%)In 1 condition
IGF2insulin like growth factor 2Often (30–79%)In 1 condition
PLAG1PLAG1 zinc fingerOften (30–79%)In 1 condition
ACTBactin betaSometimes (5–29%)In 1 condition
MAPRE2microtubule associated protein RP/EB family member 2Sometimes (5–29%)In 1 condition
TUBBtubulin beta class ISometimes (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.

Narrower traits

Broader traits

Abnormal male external genitalia 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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