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 →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
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
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.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
Organizations with orphan designations or approved therapies for this disease
AesRx, LLC
Other
Alnylam Pharmaceuticals, Inc.
Other
Amicus Therapeutics, Inc.
Other
Astellas Pharma Global Development, Inc.
Other
Bayer HealthCare Pharmaceuticals Inc.
Other
BeOne Medicines USA, Inc.
Other
Blueprint Medicines Corporation
Other
CSL Behring
Other
Celator Pharmaceuticals, Inc. (a Jazz Pharmaceuticals Company)
Other
Chiron Corporation
Other
Coherus BioSciences Inc
Other
Crinetics Pharmaceuticals, Inc.
Other
Cytokinetics Inc.
Other
Incyte Corporation
Other
Ipsen Biopharmaceuticals, Inc.
Other
Jazz Pharmaceuticals Ireland Limited
Other
MSD International Business GmbH
Other
MyoKardia, Inc. (A Wholly-Owned Subsidiary of Bristol Myers Squibb)
Other
Neurotech Pharmaceuticals, Inc.
Other
Novartis Pharmaceuticals Corporation
Other
Partner Therapeutics, Inc.
Other
Pfizer, Inc.
Other
PharmaEssentia
Other
QED Therapeutics, Inc.
Other
Stratatech Corporation, a Mallinckrodt company
Other
Teva Branded Pharmaceutical Products R&D, Inc.
Other
USWM CT, LLC
Other