Causes of Aniridia

WAGR syndrome: WAGR stands for (W)ilms' Tumor, (A)niridia

Source: NHGRI (NIH)¹

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Causes of Aniridia

Causes of the condition may include:² Causes of Aniridia:

• 3q29 Microduplication
• Aniridia
• Aniridia-Absent Patella Syndrome
• Aniridia And Absent Patella
• Aniridia, Cerebellar Ataxia, And Mental Deficiency
• Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
• Aniridia-Intellectual Disability Syndrome
• Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
• Aphakia, Congenital Primary
• Axenfeld-Rieger Syndrome, Type 1
• Duane Retraction Syndrome
• Focal Dermal Hypoplasia
• Gracile Bone Dysplasia
• Isolated Aniridia
• Lactic Aciduria Due To D-Lactic Acid
• Nephroblastoma
• Split Hand-Split Foot Malformation
• WAGR 11p13 Deletion Syndrome
• Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardationsyndrome

Causes List for Aniridia

Some of the possible causes of Aniridia or similar disorders may include:³

• Aniridia absent patella (Aniridia)
• Aniridia, cerebellar ataxia, and mental retardation (Aniridia)
• Aphakia, congenital primary (Aniridia)
• Axenfeld-Rieger syndrome type 1 ...

... Full Causes List for Aniridia »

Genetics of Aniridia

Genetic Changes: Aniridia is caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord (central nervous system), and the pancreas ...⁴

... More on Genetics »

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References

1. Source: NHGRI (NIH): genome.gov/ 26023527/ learning-about-wagr-syndrome/ 
2. Source: Human Phenotype Ontology
3. Source: Algorithmically Generated List
4. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ aniridia

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.