Trait
Microspherophakia
Microspherophakia is a rare congenital anomaly characterized by the abnormal spherical shape of the crystalline lens. It is characterized by an increased anteroposterior thickness of the lens associated with reduced equatorial diameter. The primary pathology lies in the development of zonules. The condition is often bilateral and is characterized by small, thick, and spherical lenses.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test8 genes linked to Microspherophakia
Changes in these genes cause rare conditions in which Microspherophakia 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 |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Always | In 2 conditions |
| FBN1fibrillin 1 | Always | In 4 conditions |
| LTBP2latent transforming growth factor beta binding protein 2 | Always | In 3 conditions |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Very often (80–99%) | In 1 condition |
| RRAGCRas related GTP binding C | Often (30–79%) | In 1 condition |
| FOXC1forkhead box C1 | Rarely (1–4%) | In 1 condition |
| PAX6paired box 6 | Rarely (1–4%) | In 1 condition |
| TRIM44TRIM family member 44 | Rarely (1–4%) | 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
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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