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Items: 1 to 20 of 32

1.

Diabetes mellitus AND insipidus with optic atrophy AND deafness

WFS1-related disorders range from Wolfram syndrome (WFS) to WFS1-related low-frequency sensory hearing loss (also known as DFNA6/14/38 low-frequency sensorineural hearing loss [LFSNHL]). WFS is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus and optic atrophy before age 16 years, and typically associated with sensorineural hearing loss, progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony), and other endocrine abnormalities. Median age at death is 30 years. WFS-like disease is characterized by sensorineural hearing loss, diabetes mellitus, psychiatric illness, and variable optic atrophy. WFS1-related LFSNHL is characterized by congenital, nonsyndromic, slowly progressive, low-frequency (<2000 Hz) sensorineural hearing loss. [from GeneReviews]

MedGen UID:
21923
Concept ID:
C0043207
Disease or Syndrome
2.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
3.

Wolfram syndrome

MedGen UID:
776675
Concept ID:
CN184630
Disease or Syndrome
4.

WFS1-Related Disorders

WFS1-related disorders range from Wolfram syndrome (WFS) to WFS1-related low-frequency sensory hearing loss (also known as DFNA6/14/38 low-frequency sensorineural hearing loss [LFSNHL]). WFS is a progressive neurodegenerative disorder characterized by onset of diabetes mellitus and optic atrophy before age 16 years, and typically associated with sensorineural hearing loss, progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia, psychiatric illness, and urinary tract atony), and other endocrine abnormalities. Median age at death is 30 years. WFS-like disease is characterized by sensorineural hearing loss, diabetes mellitus, psychiatric illness, and variable optic atrophy. WFS1-related LFSNHL is characterized by congenital, nonsyndromic, slowly progressive, low-frequency (<2000 Hz) sensorineural hearing loss. [from GeneReviews]

MedGen UID:
331419
Concept ID:
C1833021
Disease or Syndrome
5.

Progressive hearing impairment

A progressive form of hearing impairment. [from HPO]

MedGen UID:
331224
Concept ID:
C1842138
Finding
6.

Hearing impairment

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

MedGen UID:
5453
Concept ID:
C0018772
Finding
7.

Deafness

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

MedGen UID:
4155
Concept ID:
C0011053
Finding; Finding
8.

Atrophy

Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes. [from MeSH]

MedGen UID:
83084
Concept ID:
C0333641
Pathologic Function
9.

Optic atrophy

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. [from HPO]

MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
10.

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
11.

Diabetes mellitus

A group of abnormalities characterized by hyperglycemia and glucose intolerance. [from HPO]

MedGen UID:
504609
Concept ID:
CN000766
Finding
12.

Optic atrophy

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. [from HPO]

MedGen UID:
504537
Concept ID:
CN000609
Finding
13.

Type I diabetes mellitus

MedGen UID:
334999
Concept ID:
C1844664
Finding
14.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
15.

Diabetes mellitus type 1

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. [from OMIM]

MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
16.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
17.

Blindness

Blindness is the condition of lacking visual perception due to physiological or neurological factors. [from HPO]

MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome; Finding
18.

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
19.

Metamorphopsia

A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. [from HPO]

MedGen UID:
75739
Concept ID:
C0271185
Sign or Symptom
20.

Abnormality of the pituitary gland

Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the &quot;master control gland&quot; - it makes hormones that affect growth and the functions of other glands in the body. . With pituitary disorders, you often have too much or too little of one of your hormones. Injuries can cause pituitary disorders, but the most common cause is a pituitary tumor.  [from MedlinePlus]

MedGen UID:
45934
Concept ID:
C0032002
Disease or Syndrome
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