Oculodentodigital Dysplasia

Common Name(s)

Oculodentodigital Dysplasia

Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The condition is caused by mutations in the GJA1 gene. Most cases are inherited in an autosomal dominant pattern. Some cases are caused by a new mutation in the gene. A small number of cases follow an autosomal recessive pattern of inheritance. Management is multidisciplinary and based on specific symptoms. Early diagnosis is critical for prevention and treatment.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Oculodentodigital Dysplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Oculodentodigital Dysplasia" returned 17 free, full-text research articles on human participants. First 3 results:

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
 

Author(s): Lynn M Boyden, Brittany G Craiglow, Jing Zhou, Ronghua Hu, Erin C Loring, Kimberly D Morel, Christine T Lauren, Richard P Lifton, Kaya Bilguvar, , Amy S Paller, Keith A Choate

Journal: J. Invest. Dermatol.. 2015 Jun;135(6):1540-7.

 

Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease that is characterized by transient figurate patches ...

Last Updated: 12 May 2015

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Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms.
 

Author(s): Tao Huang, Qing Shao, Andrew MacDonald, Li Xin, Robert Lorentz, Donglin Bai, Dale W Laird

Journal: J. Cell. Sci.. 2013 Jul;126(Pt 13):2857-66.

 

Oculodentodigital dysplasia (ODDD) is mainly an autosomal dominant human disease caused by mutations in the GJA1 gene, which encodes the gap junction protein connexin43 (Cx43). Surprisingly, there have been two autosomal recessive mutations reported that cause ODDD: a single amino ...

Last Updated: 2 Jul 2013

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Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.
 

Author(s): Qing Shao, Qin Liu, Robert Lorentz, Xiang-Qun Gong, Donglin Bai, Gary S Shaw, Dale W Laird

Journal: Mol. Biol. Cell. 2012 Sep;23(17):3312-21.

 

Mutations in the gene encoding connexin-43 (Cx43) cause the human development disorder known as oculodentodigital dysplasia (ODDD). In this study, ODDD-linked Cx43 N-terminal mutants formed nonfunctional gap junction-like plaques and exhibited dominant-negative effects on the coupling ...

Last Updated: 31 Aug 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Oculodentodigital Dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Levocarnitine in Treating Patients With Vismodegib-Associated Muscle Spasms
 

Status: Recruiting

Condition Summary: Musculoskeletal Complications

 

Last Updated: 7 Apr 2016

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Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus Syndrome
 

Status: Not yet recruiting

Condition Summary: Basal Cell Nevus Syndrome

 

Last Updated: 18 Aug 2015

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