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Items: 20

1.

Diabetes-deafness syndrome maternally transmitted

Maternally inherited diabetes-deafness syndrome (MIDD) is a mitochondrial disorder characterized by onset of sensorineural hearing loss and diabetes in adulthood. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms (Ballinger et al., 1992; Reardon et al., 1992; Guillausseau et al., 2001). The association of diabetes and deafness is observed with Wolfram syndrome (see 222300), Rogers syndrome (249270), and Herrmann syndrome (172500), but all 3 of these disorders have other clinical manifestations. [from OMIM]

MedGen UID:
90979
Concept ID:
C0342289
Congenital Abnormality
2.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
446352
Concept ID:
CN000341
Finding
3.

Insulin resistance

Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. [from HPO]

MedGen UID:
43904
Concept ID:
C0021655
Pathologic Function
4.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
5.

Glucose intolerance

MedGen UID:
510705
Concept ID:
C0159069
Finding; Laboratory or Test Result
6.

Insulin resistance

Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. [from HPO]

MedGen UID:
504630
Concept ID:
CN000801
Finding
7.

Sensorineural hearing impairment

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [from HPO]

MedGen UID:
504436
Concept ID:
CN000380
Finding
8.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
9.

Beta-cell dysfunction

MedGen UID:
370119
Concept ID:
C1969875
Finding
10.

Diabetes mellitus type 2

Diabetes means your blood glucose, or blood sugar, levels are too high. With type 2 diabetes, the more common type, your body does not make or use insulin well. Insulin is a hormone that helps glucose get into your cells to give them energy. Without insulin, too much glucose stays in your blood. Over time, high blood glucose can lead to serious problems with your heart, eyes, kidneys, nerves, and gums and teeth. You have a higher risk of type 2 diabetes if you are older, obese, have a family history of diabetes, or do not exercise. Having prediabetes also increases your risk. Prediabetes means that your blood sugar is higher than normal but not high enough to be called diabetes. The symptoms of type 2 diabetes appear slowly. Some people do not notice symptoms at all. The symptoms can include. -Being very thirsty. -Urinating often. -Feeling very hungry or tired. -Losing weight without trying. -Having sores that heal slowly. -Having blurry eyesight. A blood test can show if you have diabetes. Many people can manage their diabetes through healthy eating, physical activity, and blood glucose testing. Some people also need to take diabetes medicines. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
41523
Concept ID:
C0011860
Disease or Syndrome
11.

Sensorineural hearing loss

Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM. [from MeSH]

MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
12.

Hearing problem

Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways. [from MeSH]

MedGen UID:
82636
Concept ID:
C0260662
Disease or Syndrome
13.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. . You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
14.

Diabetes mellitus

Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. A blood test can show if you have diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your glucose level and take medicine if prescribed. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
15.

Disorder of endocrine system

Your endocrine system includes eight major glands throughout your body. These glands make hormones. Hormones are chemical messengers. They travel through your bloodstream to tissues or organs. Hormones work slowly and affect body processes from head to toe. These include. -Growth and development. -Metabolism - digestion, elimination, breathing, blood circulation and maintaining body temperature . -Sexual function. -Reproduction. -Mood. If your hormone levels are too high or too low, you may have a hormone disorder. Hormone diseases also occur if your body does not respond to hormones the way it is supposed to. Stress, infection and changes in your blood's fluid and electrolyte balance can also influence hormone levels. In the United States, the most common endocrine disease is diabetes. There are many others. They are usually treated by controlling how much hormone your body makes. Hormone supplements can help if the problem is too little of a hormone.  [from MedlinePlus]

MedGen UID:
4043
Concept ID:
C0014130
Disease or Syndrome
16.

Diabetes mellitus, noninsulin-dependent, maternally transmitted

MedGen UID:
866064
Concept ID:
C4017627
Finding
17.

Tyshchenko syndrome

MedGen UID:
767688
Concept ID:
C3554774
Disease or Syndrome
18.

Abnormality of arginine metabolism

An abnormality of a arginine metabolic process. [from HPO]

MedGen UID:
451203
Concept ID:
CN116642
Finding
19.

Abnormality of glycoside metabolism

Abnormality of glycoside metabolism. [from HPO]

MedGen UID:
428361
Concept ID:
CN003297
Finding
20.

Abnormality of purine metabolism

MedGen UID:
428074
Concept ID:
CN003851
Finding
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