Trait
Large testis
Clinical name: Macroorchidism
The presence of abnormally large testes.
Summary
- Also called
- Large testicles
- Body system
- Abnormality of the genitourinary system
Reference genomeGRCh38hg38
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Get my Genome Test20 genes linked to Large testis
Changes in these genes cause rare conditions in which Large testis 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 |
|---|---|---|
| RBMXRNA binding motif protein X-linked | Always | In 2 conditions |
| FMR1fragile X messenger ribonucleoprotein 1 | Very often (80–99%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Very often (80–99%) | In 2 conditions |
| AGAaspartylglucosaminidase | Often (30–79%) | In 2 conditions |
| ARXaristaless related homeobox | Often (30–79%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Often (30–79%) | In 1 condition |
| GNASGNAS complex locus | Often (30–79%) | In 1 condition |
| MED12mediator complex subunit 12 | Often (30–79%) | In 2 conditions |
| TBC1D7TBC1 domain family member 7 | Often (30–79%) | In 1 condition |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 1 condition |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Often (30–79%) | In 1 condition |
| ZDHHC9zDHHC palmitoyltransferase 9 | Often (30–79%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 1 condition |
| CLIC2CLIC family member 2 | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Sometimes (5–29%) | In 1 condition |
| LHCGRluteinizing hormone/choriogonadotropin receptor | Sometimes (5–29%) | In 1 condition |
| NF1neurofibromin 1 | Sometimes (5–29%) | In 1 condition |
| PDE11Aphosphodiesterase 11A | Sometimes (5–29%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | 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.
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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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