Trait
Phthisis bulbi
Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test19 genes linked to Phthisis bulbi
Changes in these genes cause rare conditions in which Phthisis bulbi 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 |
|---|---|---|
| MARK3microtubule affinity regulating kinase 3 | Always | In 1 condition |
| BRD4bromodomain containing 4 | Often (30–79%) | In 1 condition |
| CDH11cadherin 11 | Often (30–79%) | In 1 condition |
| HDAC8histone deacetylase 8 | Often (30–79%) | In 1 condition |
| HMX1H6 family homeobox 1 | Often (30–79%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Often (30–79%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Often (30–79%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Often (30–79%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Often (30–79%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Often (30–79%) | In 1 condition |
| ATOH7atonal bHLH transcription factor 7 | Sometimes (5–29%) | In 2 conditions |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 1 condition |
| FOXE3forkhead box E3 | Sometimes (5–29%) | In 1 condition |
| FZD4frizzled class receptor 4 | Sometimes (5–29%) | In 1 condition |
| LIM2lens intrinsic membrane protein 2 | Sometimes (5–29%) | In 1 condition |
| NDPnorrin cystine knot growth factor NDP | Sometimes (5–29%) | In 1 condition |
| TMEM53transmembrane protein 53 | Sometimes (5–29%) | In 1 condition |
| COL18A1collagen type XVIII alpha 1 chain | Not recorded | In 1 condition |
| LRP5LDL receptor related protein 5 | 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
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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