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Trait

Gonadal dysgenesis

Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries, or to the related phenotypic features. The term is to be avoided if possible for new annotations, and more specific terms should be chosen.

HPO HP:0000133

Summary

Also called
Mixed gonadal dysgenesis, Pure gonadal dysgenesis
Body system
Abnormality of the genitourinary system

39 genes linked to Gonadal dysgenesis

Changes in these genes cause rare conditions in which Gonadal dysgenesis 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
BMP15bone morphogenetic protein 15AlwaysIn 1 condition
BNC1basonuclin zinc finger protein 1AlwaysIn 1 condition
DHHdesert hedgehog signaling moleculeAlwaysIn 2 conditions
FIGLAfolliculogenesis specific bHLH transcription factorAlwaysIn 1 condition
FSHRfollicle stimulating hormone receptorAlwaysIn 2 conditions
HSD17B4hydroxysteroid 17-beta dehydrogenase 4AlwaysIn 1 condition
MAP3K1mitogen-activated protein kinase kinase kinase 1AlwaysIn 2 conditions
MRPS22mitochondrial ribosomal protein S22AlwaysIn 1 condition
MSH4mutS homolog 4AlwaysIn 1 condition
NR5A1nuclear receptor subfamily 5 group A member 1AlwaysIn 5 conditions
NUP107nucleoporin 107AlwaysIn 1 condition
POLR3HRNA polymerase III subunit HAlwaysIn 1 condition
PPP2R3Cprotein phosphatase 2 regulatory subunit B''gammaAlwaysIn 2 conditions
PSMC3IPPSMC3 interacting proteinAlwaysIn 1 condition
SPIDRscaffold protein involved in DNA repairAlwaysIn 1 condition
WT1WT1 transcription factorAlwaysIn 4 conditions
ZFPM2zinc finger protein, FOG family member 2AlwaysIn 2 conditions
ZSWIM7zinc finger SWIM-type containing 7AlwaysIn 1 condition
DHX37DEAH-box helicase 37Very often (80–99%)In 1 condition
GATA4GATA binding protein 4Very often (80–99%)In 1 condition
NR0B1nuclear receptor subfamily 0 group B member 1Very often (80–99%)In 1 condition
SOX9SRY-box transcription factor 9Very often (80–99%)In 2 conditions
SRYsex determining region YVery often (80–99%)In 2 conditions
VAMP7vesicle associated membrane protein 7Very often (80–99%)In 1 condition
WWOXWW domain containing oxidoreductaseVery often (80–99%)In 1 condition
RXYLT1ribitol xylosyltransferase 1Often (30–79%)In 1 condition
AARS1alanyl-tRNA synthetase 1Sometimes (5–29%)In 1 condition
CARS1cysteinyl-tRNA synthetase 1Sometimes (5–29%)In 1 condition
DBR1debranching RNA lariats 1Sometimes (5–29%)In 1 condition
ERCC2ERCC excision repair 2, TFIIH core complex helicase subunitSometimes (5–29%)In 1 condition
ERCC3ERCC excision repair 3, TFIIH core complex helicase subunitSometimes (5–29%)In 1 condition
GTF2E2general transcription factor IIE subunit 2Sometimes (5–29%)In 1 condition
GTF2H5general transcription factor IIH subunit 5Sometimes (5–29%)In 1 condition
MPLKIPM-phase specific PLK1 interacting proteinSometimes (5–29%)In 1 condition
RNF113Aring finger protein 113ASometimes (5–29%)In 1 condition
TARS1threonyl-tRNA synthetase 1Sometimes (5–29%)In 1 condition
TOE1target of EGR1, exonucleaseSometimes (5–29%)In 1 condition
PPP1R12Aprotein phosphatase 1 regulatory subunit 12ANot recordedIn 1 condition
TWNKtwinkle mtDNA helicaseNot 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.

Narrower traits

Broader traits

Abnormal internal genitalia

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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