Monogenic diabetes

Common Name(s)

Monogenic diabetes

The most common forms of diabetes, type 1 and type 2, are polygenic, meaning the risk of developing these forms of diabetes is related to multiple genes . Environmental factors, such as obesity in the case of type 2 diabetes, also play a part in the development of polygenic forms of diabetes. Polygenic forms of diabetes often run in families. Doctors diagnose polygenic forms of diabetes by testing blood glucose in individuals with risk factors or symptoms of diabetes .

Some rare forms of diabetes result from mutations in a single gene and are called monogenic . Monogenic forms of diabetes may account for about 1 to 5 percent of all cases of diabetes in young people . In some cases of monogenic diabetes, the gene mutation is inherited; but in others, the gene mutation develops spontaneously . Most mutations in monogenic diabetes reduce the body's ability to produce insulin, a protein produced in the pancreas that is essential for the body to use glucose for energy . As a result, monogenic diabetes can easily be mistaken for type 1 diabetes .

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Monogenic diabetes" 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 "Monogenic diabetes" returned 26 free, full-text research articles on human participants. First 3 results:

The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes.
 

Author(s): Thomas W Laver, Kevin Colclough, Maggie Shepherd, Kashyap Patel, Jayne A L Houghton, Petra Dusatkova, Stepanka Pruhova, Andrew D Morris, Colin N Palmer, Mark I McCarthy, Sian Ellard, Andrew T Hattersley, Michael N Weedon

Journal: Diabetes. 2016 Oct;65(10):3212-7.

 

HNF4A mutations cause increased birth weight, transient neonatal hypoglycemia, and maturity onset diabetes of the young (MODY). The most frequently reported HNF4A mutation is p.R114W (previously p.R127W), but functional studies have shown inconsistent results; there is a lack of cosegregation ...

Last Updated: 23 Sep 2016

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Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center.
 

Author(s): Ellen Ra Thomas, Anna Brackenridge, Julia Kidd, Dulmini Kariyawasam, Paul Carroll, Kevin Colclough, Sian Ellard

Journal: J Diabetes Investig. 2016 May;7(3):332-7.

 

Monogenic diabetes accounts for approximately 1-2% of all diabetes, and is difficult to distinguish from type 1 and type 2 diabetes. Molecular diagnosis is important, as the molecular subtype directs appropriate treatment. Patients are selected for testing according to clinical criteria, ...

Last Updated: 22 Jun 2016

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Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes.
 

Author(s): K A Patel, R A Oram, S E Flanagan, E De Franco, K Colclough, M Shepherd, S Ellard, M N Weedon, A T Hattersley

Journal: Diabetes. 2016 Jul;65(7):2094-2099.

 

Distinguishing patients with monogenic diabetes from those with type 1 diabetes (T1D) is important for correct diagnosis, treatment, and selection of patients for gene discovery studies. We assessed whether a T1D genetic risk score (T1D-GRS) generated from T1D-associated common genetic ...

Last Updated: 22 Jun 2016

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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 "Monogenic diabetes" returned 3 free, full-text review articles on human participants. First 3 results:

Successful transition from insulin to sulfonylurea therapy in a patient with monogenic neonatal diabetes owing to a KCNJ11 F333L [corrected] mutation.
 

Author(s): Katherine Q Philla, Andrew J Bauer, Karen S Vogt, Siri Atma W Greeley

Journal: Diabetes Care. 2013 Dec;36(12):e201.

 

Last Updated: 22 Nov 2013

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Monogenic diabetes mellitus due to defects in insulin secretion.
 

Author(s): Christoph Henzen

Journal:

 

Monogenic forms of diabetes mellitus cover a heterogeneous group of diabetes which are uniformly caused by a single gene mutation and are characterised by impaired insulin secretion of the pancreatic beta cell. It is estimated that they account for up to 5% of all cases of diabetes ...

Last Updated: 5 Oct 2012

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Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient.
 

Author(s): Annabelle S Slingerland

Journal: Rev Endocr Metab Disord. 2006 Sep;7(3):171-85.

 

Monogenic diabetes results from one or more mutations in a single gene which might hence be rare but has great impact leading to diabetes at a very young age. It has resulted in great challenges for researchers elucidating the aetiology of diabetes and related features in other organ ...

Last Updated: 11 Jan 2007

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