Trait
Absence of eyeballs
Clinical name: Anophthalmia
Absence of the globe or eyeball.
Summary
- Also called
- Failure of development of eyeball, Missing eyeball, No eyeball, Absence of globes of eyes, Anophthalmia, clinical, Clinical anophthalmia, unilateral/bilateral, Missing globe of eye, No globe of eye, Ocular absence
- 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 Test73 genes linked to Absence of eyeballs
Changes in these genes cause rare conditions in which Absence of eyeballs 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 |
|---|---|---|
| BCORBCL6 corepressor | Always | In 2 conditions |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Always | In 1 condition |
| NHEJ1non-homologous end joining factor 1 | Always | In 1 condition |
| SMOC1SPARC related modular calcium binding 1 | Always | In 1 condition |
| STRA6signaling receptor and transporter of retinol STRA6 | Always | In 2 conditions |
| BMP4bone morphogenetic protein 4 | Very often (80–99%) | In 2 conditions |
| COX7Bcytochrome c oxidase subunit 7B | Very often (80–99%) | In 1 condition |
| HCCSholocytochrome c synthase | Very often (80–99%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Very often (80–99%) | In 1 condition |
| SIX6SIX homeobox 6 | Very often (80–99%) | In 1 condition |
| SOX2SRY-box transcription factor 2 | Very often (80–99%) | In 2 conditions |
| WNT7BWnt family member 7B | Very often (80–99%) | In 1 condition |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Often (30–79%) | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Often (30–79%) | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Often (30–79%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Often (30–79%) | In 2 conditions |
| COL4A1collagen type IV alpha 1 chain | Often (30–79%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Often (30–79%) | In 1 condition |
| DAG1dystroglycan 1 | Often (30–79%) | In 1 condition |
| FKRPfukutin related protein | Often (30–79%) | In 1 condition |
| FKTNfukutin | Often (30–79%) | In 1 condition |
| FRAS1Fraser extracellular matrix complex subunit 1 | Often (30–79%) | In 2 conditions |
| FREM2FRAS1 related extracellular matrix 2 | Often (30–79%) | In 1 condition |
| GRIP1glutamate receptor interacting protein 1 | Often (30–79%) | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Often (30–79%) | In 1 condition |
| MAB21L2mab-21 like 2 | Often (30–79%) | In 1 condition |
| NUAK2NUAK family kinase 2 | Often (30–79%) | In 1 condition |
| OTX2orthodenticle homeobox 2 | Often (30–79%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Often (30–79%) | In 1 condition |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Often (30–79%) | In 1 condition |
| POMKprotein O-mannose kinase | Often (30–79%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Often (30–79%) | In 1 condition |
| RXYLT1ribitol xylosyltransferase 1 | Often (30–79%) | In 1 condition |
| SEMA3Esemaphorin 3E | Often (30–79%) | In 1 condition |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Often (30–79%) | In 1 condition |
| B9D1B9 domain containing 1 | Sometimes (5–29%) | In 1 condition |
| B9D2B9 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sometimes (5–29%) | In 1 condition |
| CEP290centrosomal protein 290 | Sometimes (5–29%) | In 1 condition |
Show 33 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 2 conditions |
| DOCK7dedicator of cytokinesis 7 | Sometimes (5–29%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sometimes (5–29%) | In 2 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 2 conditions |
| FANCBFA complementation group B | Sometimes (5–29%) | In 1 condition |
| FREM1FRAS1 related extracellular matrix 1 | Sometimes (5–29%) | In 2 conditions |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Sometimes (5–29%) | In 1 condition |
| KDM2Blysine demethylase 2B | Sometimes (5–29%) | In 1 condition |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 1 condition |
| KIF7kinesin family member 7 | Sometimes (5–29%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| PORCNporcupine O-acyltransferase | Sometimes (5–29%) | In 2 conditions |
| RBP4retinol binding protein 4 | Sometimes (5–29%) | In 1 condition |
| RPGRIP1RPGR interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| RPGRIP1LRPGRIP1 like | Sometimes (5–29%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Sometimes (5–29%) | In 2 conditions |
| TBC1D32TBC1 domain family member 32 | Sometimes (5–29%) | In 1 condition |
| TCTN1tectonic family member 1 | Sometimes (5–29%) | In 1 condition |
| TCTN2tectonic family member 2 | Sometimes (5–29%) | In 2 conditions |
| TCTN3tectonic family member 3 | Sometimes (5–29%) | In 1 condition |
| TMEM107transmembrane protein 107 | Sometimes (5–29%) | In 1 condition |
| TMEM216transmembrane protein 216 | Sometimes (5–29%) | In 1 condition |
| TMEM231transmembrane protein 231 | Sometimes (5–29%) | In 1 condition |
| TMEM237transmembrane protein 237 | Sometimes (5–29%) | In 1 condition |
| TMEM67transmembrane protein 67 | Sometimes (5–29%) | In 1 condition |
| TXNDC15thioredoxin domain containing 15 | Sometimes (5–29%) | In 1 condition |
| RARBretinoic acid receptor beta | Not recorded | In 1 condition |
| RAXretina and anterior neural fold homeobox | Not recorded | In 1 condition |
| SF3B2splicing factor 3b subunit 2 | Not recorded | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | 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.
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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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