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Diabetes mellitus, insulin-dependent, 2(IDDM2)

MedGen UID:
377588
Concept ID:
C1852092
Disease or Syndrome
Synonyms: Diabetes Mellitus, Insulin-Dependent, 2; Insulin-Dependent Diabetes Mellitus 2
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): INS (11p15.5)
OMIM®: 125852

Definition

Type 1 diabetes is a disorder characterized by abnormally high blood sugar levels. In this form of diabetes, specialized cells in the pancreas called beta cells stop producing insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. Lack of insulin results in the inability to use glucose for energy or to control the amount of sugar in the blood.Type 1 diabetes can occur at any age; however, it usually develops by early adulthood, most often starting in adolescence. The first signs and symptoms of the disorder are caused by high blood sugar and may include frequent urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. These symptoms may recur during the course of the disorder if blood sugar is not well controlled by insulin replacement therapy. Improper control can also cause blood sugar levels to become too low (hypoglycemia). This may occur when the body's needs change, such as during exercise or if eating is delayed. Hypoglycemia can cause headache, dizziness, hunger, shaking, sweating, weakness, and agitation.Uncontrolled type 1 diabetes can lead to a life-threatening complication called diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of glucose in cells prompts the liver to try to compensate by releasing more glucose into the blood, and blood sugar can become extremely high. The cells, unable to use the glucose in the blood for energy, respond by using fats instead. Breaking down fats to obtain energy produces waste products called ketones, which can build up to toxic levels in people with type 1 diabetes, resulting in diabetic ketoacidosis. Affected individuals may begin breathing rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe cases, diabetic ketoacidosis can lead to coma and death.Over many years, the chronic high blood sugar associated with diabetes may cause damage to blood vessels and nerves, leading to complications affecting many organs and tissues. The retina, which is the light-sensitive tissue at the back of the eye, can be damaged (diabetic retinopathy), leading to vision loss and eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and loss of normal sensation (diabetic neuropathy) often occur, especially in the feet. Impaired circulation and absence of the normal sensations that prompt reaction to injury can result in permanent damage to the feet; in severe cases, the damage can lead to amputation. People with type 1 diabetes are also at increased risk of heart attacks, strokes, and problems with urinary and sexual function.
[from GHR]

Clinical features

Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
The type of diabetes mellitus called IDDM is a disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of IDDM have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classical phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
The type of diabetes mellitus called IDDM is a disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of IDDM have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classical phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

Recent clinical studies

Etiology

Santos MA, Ceretta LB, Réus GZ, Abelaira HM, Jornada LK, Schwalm MT, Neotti MV, Tomazzi CD, Gulbis KG, Ceretta RA, Quevedo J
Rev Bras Psiquiatr 2014 Oct-Dec;36(4):298-304. Epub 2014 Jun 24 doi: 10.1590/1516-4446-2013-1230. PMID: 25003555
Zuern CS, Rizas K, Eick C, Sterz K, Gawaz M, Bauer A
J Electrocardiol 2012 Nov-Dec;45(6):774-9. Epub 2012 Aug 31 doi: 10.1016/j.jelectrocard.2012.07.010. PMID: 22944520

Diagnosis

Santos MA, Ceretta LB, Réus GZ, Abelaira HM, Jornada LK, Schwalm MT, Neotti MV, Tomazzi CD, Gulbis KG, Ceretta RA, Quevedo J
Rev Bras Psiquiatr 2014 Oct-Dec;36(4):298-304. Epub 2014 Jun 24 doi: 10.1590/1516-4446-2013-1230. PMID: 25003555

Therapy

Santos MA, Ceretta LB, Réus GZ, Abelaira HM, Jornada LK, Schwalm MT, Neotti MV, Tomazzi CD, Gulbis KG, Ceretta RA, Quevedo J
Rev Bras Psiquiatr 2014 Oct-Dec;36(4):298-304. Epub 2014 Jun 24 doi: 10.1590/1516-4446-2013-1230. PMID: 25003555

Prognosis

Zuern CS, Rizas K, Eick C, Sterz K, Gawaz M, Bauer A
J Electrocardiol 2012 Nov-Dec;45(6):774-9. Epub 2012 Aug 31 doi: 10.1016/j.jelectrocard.2012.07.010. PMID: 22944520

Clinical prediction guides

Zuern CS, Rizas K, Eick C, Sterz K, Gawaz M, Bauer A
J Electrocardiol 2012 Nov-Dec;45(6):774-9. Epub 2012 Aug 31 doi: 10.1016/j.jelectrocard.2012.07.010. PMID: 22944520

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