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Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Variants (also called mutations) in one of several genes can cause permanent neonatal diabetes mellitus. The signs and symptoms of the condition, the severity of the condition, and the treatment options can vary depending on the particular gene involved. Variants in the KCNJ11, ABCC8, and INS genes are responsible for most cases of permanent neonatal diabetes mellitus.

About 25 percent of individuals with permanent neonatal diabetes mellitus have a variant in the KCNJ11 gene. Variants in the ABCC8 gene cause an additional 10 to 15 percent of cases. These genes provide instructions for making parts (subunits) of the ATP-sensitive potassium (KATP) channels that are found in specialized pancreas cells called beta cells. Each of these KATP channels consists of four subunits that are produced from the KCNJ11 gene and four subunits that are produced from the ABCC8 gene.

These KATP channels span the cell membranes of the beta cells and open and close in response to the amount of glucose in the bloodstream. The KATP channels close when blood glucose levels increase, which triggers the release of insulin from the beta cells into the bloodstream. In this way, the KATP channels help regulate insulin secretion and control blood glucose levels.

The variants in the KCNJ11 or ABCC8 gene that are associated with permanent neonatal diabetes mellitus cause cells to produce proteins that do not function properly. As a result, KATP channels do not close when they should, leading to reduced insulin secretion from the beta cells and impaired blood glucose control.

Variants in the INS gene, which provides instructions for making insulin, have been found in approximately 20 to 25 percent of individuals with permanent neonatal diabetes mellitus. The precursor to insulin is called proinsulin, which consists of a single chain of protein building blocks (amino acids). The proinsulin chain is cut (cleaved) to form individual pieces called A and B chains, which are joined together to form insulin. Variants in the INS gene disrupt the cleavage of proinsulin or the binding of the A and B chains, which reduces the amount of available insulin and leads to impaired blood glucose control.

Gene variants have not been found in all people with permanent neonatal diabetes mellitus. Researchers suspect that other genes may be involved in the development of this condition.

Permanent neonatal diabetes mellitus can also be part of a syndrome that affects multiple parts of the body. When the condition is part of a syndrome, it is caused by variants in the gene associated with that syndrome.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Permanent neonatal diabetes mellitus?"},{"bodyHtml":"

The signs and symptoms of permanent neonatal diabetes mellitus can vary among affected individuals. Infants with this condition typically have abnormally high levels of glucose in the blood, glucose in the urine, severe fluid loss (dehydration), and a history of slow growth before birth (intrauterine growth retardation). After birth, affected infants may also have difficulty gaining weight and growing at the expected rate (failure to thrive).

A small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes in addition to insulin, affected individuals may also experience digestive problems, such as fatty stools and an inability to absorb fat-soluble vitamins.

The long-term complications of permanent neonatal diabetes mellitus can include kidney disease and retinopathy, which is damage to the small blood vessels in the specialized light-sensitive tissue that lines the back of the eye (retina). The risk of long-term complications is reduced with proper diabetes management.

Source: MedlinePlus Genetics

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