What is Didmoad syndrome?
Wolfram syndrome , which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D).
What is Wolcott Rallison syndrome?
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation.
Is there a cure for Wolfram syndrome?
Although there are currently no effective treatments that can delay, halt, or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can relieve the debilitating symptoms.
What is the primary cause of Wolfram syndrome?
Causes. Wolfram syndrome is caused by mutations in the WFS1 (most common) or WFS2 (CISD2) gene that are inherited in an autosomal recessive pattern in most affected individuals, although dominant forms exist.
How common is Leprechaunism?
Leprechaunism is an extremely rare disorder characterized by abnormal resistance to insulin that results in a variety of distinguishing characteristics, including growth delays and abnormalities affecting the endocrine system (i.e., the system of glands that secrete hormones into the blood system).
How many people in the world have Wolfram syndrome?
The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people worldwide. Approximately 200 cases have been described in the scientific literature.
What causes Wolcott-Rallison syndrome?
Background: Wolcott-Rallison syndrome (WRS) is caused by recessive EIF2AK3 mutations and characterized by early-onset diabetes and skeletal dysplasia. Hepatic dysfunction has been reported in 60% of patients.
What is PNDM diabetes?
Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin.
Is Wolfram syndrome inherited?
Wolfram syndrome is caused by mutations in the WFS1 (most common) or WFS2 (CISD2) gene that are inherited in an autosomal recessive pattern in most affected individuals, although dominant forms exist.
What are symptoms of Leprechaunism?
Leprechaunism is associated with abnormal darkening and thickening of patches of skin in certain areas of the body (acanthosis nigricans), unusual thickening of the skin (pachyderma), excessive hair growth (hirsutism), and malformation (dysplasia) of the nails.