Wolfram syndrome is a genetic condition that affect multiple body systems. It is also known as DIDMOAD, which stands for its characteristic symptoms:

DI – diabetes insipidus (a condition characterised by extreme thirst and excessive urination)

DM – childhood-onset diabetes mellitus

OA – optical atrophy (damage to the optic nerves leading to vision loss over time)

D – deafness

Wolfram syndrome can be categorised into three forms, based on which gene is affected and how the condition is inherited:

• Wolfram syndrome type 1 (most common)
• Wolfram syndrome type 2
• WFS1-related disorders

Below on this page is some information about this condition as well as links to useful resources for Australians living with a rare disease.

Synonyms: Arginine vasopressin deficiency-diabetes mellitus-optic atrophy-hearing loss syndrome, DIDMOAD, DIDMOAD syndrome, diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome, diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome, WFS, WS.

ORPHA:3463 Wolfram syndrome

ICD-11: 5A61.5 Central diabetes insipidus

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact.

Please speak to your medical team to learn more about the symptoms of this condition.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Wolfram syndrome is a genetic condition and can be passed down (inherited) from parents to children. Every person has two copies (alleles) of each gene – one from their mother and one from their father.

The different forms of Wolfram syndrome are caused by different types of disease-causing genetic changes (variants) and are inherited differently.

• WS1 and WFS1-related disorders are both caused by disease-causing genetic variant in the WFS1 gene on chromosome 4.
• WS1 is an autosomal recessive condition, which means both copies of the WFS1 gene must have the gene variants.
• WFS1-related disorders are autosomal dominant conditions, which means that having genetic variant in just one of the WFS1 gene copies can result in the condition.
• WS2 is caused by variants in the CISD2 gene on chromosome 4, and is inherited in an autosomal recessive manner.

More information on the inheritance patterns can be found at

• Centre for Genetics Education: Autosomal dominant inheritance
• Centre for Genetics Education: Autosomal recessive inheritance

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials.

Please speak to your medical team to learn more about the available diagnostic pathways for this condition.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of Wolfram syndrome may include general practitioners (GP), paediatricians, dietitians, ear nose throat (ENT) specialists, endocrinologists, gastroenterologists, neurologists, ophthalmologists, occupational therapists, physiotherapists and urologists. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

If you know of any relevant care guidelines, please let us know via the Contribute page.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

SID/SIEDP expert consensus on optimizing clinical strategies for early detection and management of wolfram syndrome (2025) developed by an expert panel of healthcare professionals in Italy.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the Contribute page.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

We are not aware of any rare disease organisations for Wolfram syndrome in Australia. If you are aware of any Australian organisations, please let us know via the Contribute page.

International Organisations:

Ellie White Foundation (United States of America)

Website: https://www.elliewhitefoundation.org

Snow Foundation for Wolfram Syndrome Research (United States of America)

Website: https://thesnowfoundation.org/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Wolfram syndrome vary between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on Wolfram syndrome can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Wolfram syndrome
• National Organization for Rare Disorders (NORD): Wolfram Syndrome

GeneReviews®: WFS1 Spectrum Disorder

Online Mendelian Inheritance in Man, OMIM®: #222300 Wolfram Syndrome 1; WFS1

Online Mendelian Inheritance in Man, OMIM®: #604928 Wolfram Syndrome 2; WFS2

Online Mendelian Inheritance in Man, OMIM®: #614296 Wolfram-like Syndrome, autosomal dominant; WFSL

Online Mendelian Inheritance in Man, OMIM®: #598500 Wolfram Syndrome, mitochondrial form

Orphanet: Wolfram syndrome

Human Phenotype Ontology (HPO): Wolfram syndrome

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team. If you would like to see more information added to this page, please reach out via the Contact form. If you would like to share relevant resources for this condition, please visit the Contribute page.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.