Trait

Absent testes

Clinical name: Absent testis

Testis not palpable in the scrotum or inguinal canal.

HPO HP:0010469

Also called: Absence of palpable testicules, Aplasia of the testes
Body system: Abnormality of the genitourinary system

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26 genes linked to Absent testes

Changes in these genes cause rare conditions in which Absent testes 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
DHX37DEAH-box helicase 37	Very often (80–99%)	In 1 condition
TCTN3tectonic family member 3	Very often (80–99%)	In 1 condition
BRCA1BRCA1 DNA repair associated	Sometimes (5–29%)	In 1 condition
BRCA2BRCA2 DNA repair associated	Sometimes (5–29%)	In 1 condition
BRIP1BRCA1 interacting DNA helicase 1	Sometimes (5–29%)	In 1 condition
ERCC4ERCC excision repair 4, endonuclease catalytic subunit	Sometimes (5–29%)	In 1 condition
FAAP100FA core complex associated protein 100	Sometimes (5–29%)	In 1 condition
FANCAFA complementation group A	Sometimes (5–29%)	In 1 condition
FANCBFA complementation group B	Sometimes (5–29%)	In 1 condition
FANCCFA complementation group C	Sometimes (5–29%)	In 1 condition
FANCD2FA complementation group D2	Sometimes (5–29%)	In 1 condition
FANCEFA complementation group E	Sometimes (5–29%)	In 1 condition
FANCFFA complementation group F	Sometimes (5–29%)	In 1 condition
FANCGFA complementation group G	Sometimes (5–29%)	In 1 condition
FANCIFA complementation group I	Sometimes (5–29%)	In 1 condition
FANCLFA complementation group L	Sometimes (5–29%)	In 1 condition
FANCMFA complementation group M	Sometimes (5–29%)	In 1 condition
MAD2L2mitotic arrest deficient 2 like 2	Sometimes (5–29%)	In 1 condition
PALB2partner and localizer of BRCA2	Sometimes (5–29%)	In 1 condition
RAD51RAD51 recombinase	Sometimes (5–29%)	In 1 condition
RAD51CRAD51 paralog C	Sometimes (5–29%)	In 1 condition
RFWD3ring finger and WD repeat domain 3	Sometimes (5–29%)	In 1 condition
SLX4SLX4 structure-specific endonuclease subunit	Sometimes (5–29%)	In 1 condition
UBE2Tubiquitin conjugating enzyme E2 T	Sometimes (5–29%)	In 1 condition
XRCC2X-ray repair cross complementing 2	Sometimes (5–29%)	In 1 condition
GDF6growth differentiation factor 6	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

Absent/small testes

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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