Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Wolfram syndrome


Other Names for this Disease

  • Diabetes insipidus and mellitus with optic atrophy and deafness
  • DIDMOAD
  • DIDMOAD syndrome
  • WFS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

Newline Maker

What are the signs and symptoms of Wolfram syndrome?

Wolfram syndrome is characterized by diabetes insipidus, a condition in which the kidneys cannot conserve water; childhood-onset diabetes mellitus, which results from the improper control of glucose due to the lack of insulin; a gradual loss of vision caused by optic atrophy, in which the nerve that connects the eye to the brain wastes away; and deafness.[1] Other related problems include lack of muscle tone within the urinary tract, ataxia, peripheral neuropathy, dementia, psychiatric disorders (i.e. severe depression, psychosis, compulsive verbal and physical aggression), and/or seizures.[2]

The following complications have also been noted: [2] 
Last updated: 9/8/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Wolfram syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Diabetes insipidus 90%
Diabetes mellitus 90%
Optic atrophy 90%
Sensorineural hearing impairment 90%
Feeding difficulties in infancy 50%
Incoordination 50%
Nephropathy 50%
Neurological speech impairment 50%
Nystagmus 50%
Recurrent urinary tract infections 50%
Seizures 50%
Abnormality of the autonomic nervous system 7.5%
Abnormality of the gastric mucosa 7.5%
Abnormality of the genital system 7.5%
Anemia 7.5%
Cerebral cortical atrophy 7.5%
Cognitive impairment 7.5%
Constipation 7.5%
Developmental regression 7.5%
Gastrointestinal hemorrhage 7.5%
Glaucoma 7.5%
Hallucinations 7.5%
Hypertrophic cardiomyopathy 7.5%
Limitation of joint mobility 7.5%
Malabsorption 7.5%
Myopathy 7.5%
Ophthalmoparesis 7.5%
Peripheral neuropathy 7.5%
Respiratory insufficiency 7.5%
Sleep disturbance 7.5%
Ataxia -
Autosomal recessive inheritance -
Behavioral abnormality -
Cardiomyopathy -
Cerebral atrophy -
Diabetes insipidus -
Diabetes mellitus -
Dysarthria -
Dysphagia -
Growth delay -
Hydronephrosis -
Hydroureter -
Hypothyroidism -
Intellectual disability -
Limited mobility of proximal interphalangeal joint -
Megaloblastic anemia -
Neurogenic bladder -
Nystagmus -
Optic atrophy -
Pigmentary retinopathy -
Ptosis -
Seizures -
Sensorineural hearing impairment -
Sideroblastic anemia -
Stroke-like episodes -
Testicular atrophy -
Thrombocytopenia -
Tremor -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. WFS1. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/gene/WFS1. Accessed 9/7/2011.
  2. Martinez VN. Wolfram syndrome. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3463. Accessed 9/7/2011.


Other Names for this Disease
  • Diabetes insipidus and mellitus with optic atrophy and deafness
  • DIDMOAD
  • DIDMOAD syndrome
  • WFS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.