Trait
Absent iris
Clinical name: Aniridia
Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris.
Summary
- Body system
- Abnormality of the eye
Reference genomeGRCh38hg38
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Get my Genome Test47 genes linked to Absent iris
Changes in these genes cause rare conditions in which Absent iris 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 |
|---|---|---|
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Always | In 3 conditions |
| PAX6paired box 6 | Always | In 5 conditions |
| TRIM44TRIM family member 44 | Always | In 2 conditions |
| WT1WT1 transcription factor | Always | In 3 conditions |
| FOXC1forkhead box C1 | Very often (80–99%) | In 1 condition |
| ELP4elongator acetyltransferase complex subunit 4 | Often (30–79%) | In 1 condition |
| RBSNrabenosyn, RAB effector | Often (30–79%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BTRCbeta-transducin repeat containing E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| CHN1chimerin 1 | Sometimes (5–29%) | In 1 condition |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Sometimes (5–29%) | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Sometimes (5–29%) | In 1 condition |
| DLX5distal-less homeobox 5 | Sometimes (5–29%) | In 1 condition |
| DLX6distal-less homeobox 6 | Sometimes (5–29%) | In 1 condition |
| EPS15L1epidermal growth factor receptor pathway substrate 15 like 1 | Sometimes (5–29%) | In 1 condition |
| FBXW4F-box and WD repeat domain containing 4 | Sometimes (5–29%) | In 1 condition |
| FOXE3forkhead box E3 | Sometimes (5–29%) | In 2 conditions |
| GPC3glypican 3 | Sometimes (5–29%) | In 1 condition |
| H19H19 imprinted maternally expressed transcript | Sometimes (5–29%) | In 1 condition |
| MAFBMAF bZIP transcription factor B | Sometimes (5–29%) | In 1 condition |
| POU6F2POU class 6 homeobox 2 | Sometimes (5–29%) | In 1 condition |
| RESTRE1 silencing transcription factor | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| SEM1SEM1 26S proteasome subunit | Sometimes (5–29%) | In 1 condition |
| TP63tumor protein p63 | Sometimes (5–29%) | In 1 condition |
| TRIM28tripartite motif containing 28 | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| WNT10BWnt family member 10B | Sometimes (5–29%) | In 1 condition |
| DLSTdihydrolipoamide S-succinyltransferase | Rarely (1–4%) | In 1 condition |
| FHfumarate hydratase | Rarely (1–4%) | In 1 condition |
| KIF1Bkinesin family member 1B | Rarely (1–4%) | In 1 condition |
| MAXMYC associated transcriptional regulator X | Rarely (1–4%) | In 1 condition |
| MDH2malate dehydrogenase 2 | Rarely (1–4%) | In 1 condition |
| NF1neurofibromin 1 | Rarely (1–4%) | In 1 condition |
| RETret proto-oncogene | Rarely (1–4%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Rarely (1–4%) | In 1 condition |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Rarely (1–4%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Rarely (1–4%) | In 1 condition |
| SDHCsuccinate dehydrogenase complex subunit C | Rarely (1–4%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Rarely (1–4%) | In 1 condition |
Show 7 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SLC25A11solute carrier family 25 member 11 | Rarely (1–4%) | In 1 condition |
| TMEM127transmembrane protein 127 | Rarely (1–4%) | In 1 condition |
| VHLvon Hippel-Lindau tumor suppressor | Rarely (1–4%) | In 1 condition |
| FAM111AFAM111 trypsin like peptidase A | Not recorded | In 1 condition |
| LDHDlactate dehydrogenase D | Not recorded | In 1 condition |
| PITX2paired like homeodomain 2 | Not recorded | In 1 condition |
| PORCNporcupine O-acyltransferase | 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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