A cataract that has material basis in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24.
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
The limited documentation surrounding cataract 13 with adult I phenotype is primarily due to its rarity and the recent identification of its genetic basis. As this condition affects a small number of individuals, comprehensive clinical studies have been challenging to conduct. Ongoing research may eventually provide more insights into its clinical features and management.
To navigate cataract 13 with adult I phenotype, consider consulting a geneticist or an ophthalmologist with experience in hereditary cataracts. They can provide insights into genetic testing options for you and your family. Additionally, seeking genetic counseling can be beneficial in understanding inheritance patterns and implications for family members. For further resources, visit the Genetic and Rare Diseases Information Center at rarediseases.info.nih.gov, which offers information on genetic conditions and support options.
Actionable guidance for navigating care for cataract 13 with adult I phenotype
To navigate cataract 13 with adult I phenotype, consider consulting a geneticist or an ophthalmologist with experience in hereditary cataracts. They can provide insights into genetic testing options for you and your family. Additionally, seeking genetic counseling can be beneficial in understanding inheritance patterns and implications for family members. For further resources, visit the Genetic and Rare Diseases Information Center at rarediseases.info.nih.gov, which offers information on genetic conditions and support options.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 27 companies have orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.