Wolfram syndrome
A genetic neurodegenerative disease that leads to many different abnormalities including diabetes insipidus (inability to concentrate the urine), diabetes mellitus (the usual type of diabetes), blindness (due to optic atrophy, degeneration of the nerve to the eye), and deafness. Patients usually also suffer from severe abnormalities of the nervous system that can be accompanied by behavior problems, psychiatric hospitalizations and, in about a quarter of cases, suicide attempts. Wolfram syndrome is sometimes referred to as "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Only the insulin-dependent diabetes mellitus and optic atrophy are necessary to make the diagnosis. The syndrome is inherited as an autosomal recessive trait so that brothers and sisters of a child with the syndrome each have a 25 percent chance of receiving the gene from both parents and therefore having the syndrome. The syndrome is caused by a mutation in the gene responsible for the production of a protein called wolframin, resulting in loss of function of this protein. The gene is in chromosome 4p16.1. Wolfram syndrome is genetically heterogeneous (mixed). There is, for example, a type of Wolfram syndrome with additional atypical features such as profound upper gastrointestinal ulceration and bleeding as well as an absence of diabetes insipidus. The gene for this type of Wolfram syndrome is not in the region of chromosome 4p16.1 but rather is in chromosome 4q22-24.

* * *

Wol·fram syndrome 'wu̇l-frəm- or Wolfram's syndrome n a rare hereditary disorder that is characterized esp. by type 1 diabetes, diabetes insipidus, optic atrophy, sensorineural deafness, and bladder dysfunction and that is inherited as an autosomal recessive trait
Wolfram D. J. (fl 1938)
American physician. Wolfram published a report on four cases of Wolfram syndrome in 1938.

* * *

a rare syndrome consisting of a combination of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

* * *

an autosomal recessive syndrome, first evident in childhood, consisting of diabetes mellitus, diabetes insipidus, optic atrophy, and neural deafness. Called also DIDMOAD s.

Medical dictionary. 2011.

Look at other dictionaries:

  • Wolfram syndrome — Classification and external resources Photographic image of the patient right eye showing optic atrophy without diabetic ret …   Wikipedia

  • Wolfram syndrome — DIDMOAD syndrome a rare syndrome consisting of a combination of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness …   The new mediacal dictionary

  • Wolfram — may refer to:*the element Tungsten, called wolfram in German and a majority of languages **Wolframite, an iron manganese tungstate mineral *Wolfram Research, a software company in headquartered in Champaign, Illinois *Wolfram syndrome, a rare… …   Wikipedia

  • Syndrome, Wolfram — A genetic neurodegenerative disease that leads to many different abnormalities including diabetes insipidus (inability to concentrate the urine), diabetes mellitus (the usual type of diabetes), blindness (due to optic atrophy, degeneration of the …   Medical dictionary

  • Wolfram — Cette page d’homonymie répertorie les différents sujets et articles partageant un même nom. Sur les autres projets Wikimedia : « Wolfram », sur le Wiktionnaire (dictionnaire universel) Wolfram est un nom allemand. En chimie, c est… …   Wikipédia en Français

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • wolfram, wolframium — SYN: tungsten. See W. syndrome. [from wolframite] …   Medical dictionary

  • Síndrome de Wolfram — Imagen fotográfica del ojo derecho del paci …   Wikipedia Español

  • Usher syndrome — Classification and external resources OMIM 276900 276901 DiseasesDB 13611 …   Wikipedia

  • Cogan syndrome — Classification and external resources DiseasesDB 32705 MeSH D055952 Cogan syndrome is a rare dis …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”