DIDMOAD syndrome

acronymic syndrome of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, of uncertain cause.

Farlex Partner Medical Dictionary © Farlex 2012

An autosomal recessive [MIM 222300] condition characterised by diabetes insipidus, non-autoimmune type 1 diabetes mellitus, optic atrophy, sensorineural deafness and further neurological and endocrinological abnormalities. Death occurs prematurely, often from respiratory failure associated with brainstem atrophy

Wolf·ram syn·drome

(wulf'răm sin'drōm)

A disorder consisting of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness; the genetic abnormality is located on chromosome 4p; autosomal recessive inheritance.

Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Wolfram,

Donald J., U.S. physician, 1910–.

Wolfram syndrome - autosomal recessive disorder characterized by juvenile diabetes mellitus and optic atrophy. The acronym DIDMOAD is used to describe the syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness).

Medical Eponyms © Farlex 2012

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References in periodicals archive

Baz et al., "Diabetes mellitus and optic atrophy: A study of Wolfram syndrome in the Lebanese population," The Journal of Clinical Endocrinology & Metabolism, vol.

Swift, "Psychiatric findings in Wolfram syndrome homozygotes," The Lancet, vol.

Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies

Wolfram syndrome (WS), also named diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) syndrome, is a rare autosomal recessive disorder.

Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A)

It was only when Krystle needed new '." It was only when Krystle needed n glasses when she was ten that Wolfram syndrome was diagnosed.

I quit 20 a day habit to care for my sick kids; Rare condition robbed Vicki's children of their sight

The Rudds have been helped by Wolfram Syndrome UK, a support group set up to raise awareness.

THE DEVASTATING MOMENT I FOUND OUT BOTH MY BOYS COULD GO BLIND... Birmingham mum Janet Rudd was dealt the heartbreaking blow that not one but two of her sons may go blind due to a rare genetic condition. ZOE CHAMBERLAIN reports

A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

Optical coherence tomography findings in patients with Wolfram syndrome/Wolfram sendromlu hastalarda optik koherans tomografi bulgular?

Swift, "Psychiatric disorders and mutations at the Wolfram syndrome locus," Biological Psychiatry, vol.

Effect of chronic valproic acid treatment on hepatic gene expression profile in Wfs1 knockout mouse

The researchers were studying the epidemiology of Wolfram syndrome when they first noticed an excess of psychiatric symptoms among relatives of those with the disorder.

Gene linked to mental illness, suicide

Commonest type of wolfram syndrome is because of mutation in chromosome 4 (4p16).

BILATERAL ATROPHIC MACULOPATHY IN TWO SIBLINGS OF WOLFRAM SYNDROME

Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report

Wolfram syndrome is an often fatal genetic disorder characterized by the development of insulin-dependent diabetes, vision loss, and deafness.

Human stem cells used to reveal mechanisms of beta-cell failure in diabetes

Deletion of mitochondrial DNA in a case of early onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy