DIDMOADNeurodegenerative disorderPeople with WolframWFS1PsychiatricDiabetesMutationsMultiple endocrineOpticDiagnosisDiseaseMutationUlcersPrevalenceAffectsDysfunctionDisordersTherapeuticGenetic disorderRareHypopituitarismTypePatientsPediatricClinicalStudySeverityFeaturesPrimaryResearchPageTypesCommon
DIDMOAD7
- Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration. (wikipedia.org)
- citation needed] Mutations in the WFS1 gene cause Wolfram syndrome, which is also known by the acronym DIDMOAD. (wikipedia.org)
- An outdated name for Wolfram syndrome is DIDMOAD. (health-lib.com)
- Presentation and clinical course of Wolfram (DIDMOAD) syndrome from North India. (bvsalud.org)
- Wolfram syndrome , also known as DIDMOAD , is a relatively rare inherited neurodegenerative disorder , first evident in childhood as an association of juvenile-onset diabetes mellitus and optic atrophy , followed by diabetes insipidus and deafness . (bvsalud.org)
- The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India . (bvsalud.org)
- The argument for a genetic factor is supported be a very rare syndrome known as Wolfram syndrome (DIDMOAD). (endocrinesurgeon.co.uk)
Neurodegenerative disorder2
- Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterised by juvenile-onset nonautoimmune diabetes mellitus and optic atrophy. (bham.ac.uk)
- Recent study at IMBB, published in Cell Death and Disease revealed that CISD-1, an iron sulfur cluster binding protein implicated in the pathogenesis of the neurodegenerative disorder Wolfram Syndrome type 2, modulates longevity and proteostasis by engaging autophagy and the mitochondrial intrinsic apoptosis pathway. (forth.gr)
People with Wolfram8
- Approximately 70 percent of people with Wolfram syndrome have diabetes insipidus. (medlineplus.gov)
- About 65 percent of people with Wolfram syndrome have sensorineural deafness that can range in severity from deafness beginning at birth to mild hearing loss beginning in adolescence that worsens over time. (medlineplus.gov)
- Sixty to 90 percent of people with Wolfram syndrome have a urinary tract problem. (medlineplus.gov)
- About 60 percent of people with Wolfram syndrome develop a neurological or psychiatric disorder, most commonly problems with balance and coordination (ataxia), typically beginning in early adulthood. (medlineplus.gov)
- Other neurological problems experienced by people with Wolfram syndrome include irregular breathing caused by the brain's inability to control breathing (central apnea), loss of the sense of smell (anosmia), loss of the gag reflex, muscle spasms (myoclonus), seizures, reduced sensation in the lower extremities (peripheral neuropathy), and intellectual impairment. (medlineplus.gov)
- People with Wolfram syndrome type 2 do not develop diabetes insipidus. (medlineplus.gov)
- People with Wolfram syndrome have changes (mutations) in their genes. (health-lib.com)
- People with Wolfram syndrome type 2 usually don't have diabetes insipidus or psychiatric conditions. (health-lib.com)
WFS16
- Two genetic forms have been described: Wolfram syndrome 1 (WFS1), and Wolfram syndrome 2 (WFS2). (wikipedia.org)
- Researchers have identified more than 100 WFS1 mutations that cause Wolfram syndrome. (wikipedia.org)
- It is unclear how WFS1 mutations lead to other features of Wolfram syndrome. (wikipedia.org)
- Variants (also known as mutations) in the WFS1 gene cause more than 90 percent of Wolfram syndrome type 1 cases. (medlineplus.gov)
- Wolfram syndrome type 1 is the result of a mutation of the WFS1 gene. (health-lib.com)
- Wolfram syndrome occurs when biological parents pass on changes (mutations) in the WFS1 or WFS2 (CISD2) genes to their children. (health-lib.com)
Psychiatric3
- Psychiatric disorders associated with Wolfram syndrome include psychosis, episodes of severe depression , and impulsive and aggressive behavior. (medlineplus.gov)
- BY ANGELA M. REIERSEN, M.D. S everal years ago, a colleague supervising an annual multidisciplinary research clinic studying Wolfram syndrome in children, adolescents, and young adults asked me to use my experience as a child and adolescent psychiatrist to perform neurological and psychiatric assessments of the study participants. (flippingbook.com)
- the same overdrive immune response seen in those mice was a central feature observed in children who had come under her care because they had a rare genetic disorder-Wolfram syndrome-that led to psychiatric symptoms. (scientificamerican.com)
Diabetes9
- and deafness (D). This syndrome can sometimes cause diabetes insipidus (DI), a condition in which the kidneys cannot conserve water. (wikipedia.org)
- Diabetes mellitus is typically the first symptom of Wolfram syndrome, usually diagnosed around age 6. (medlineplus.gov)
- Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. (medlineplus.gov)
- Historically, Wolfram syndrome was fatal by mid-adulthood due to complications from the many features of the condition, such as health problems related to diabetes mellitus or neurological problems. (medlineplus.gov)
- Wolfram syndrome-related diabetes is similar to Type 1 diabetes, but it's not an autoimmune disease. (health-lib.com)
- Clinical presentation of juvenile-onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form. (bvsalud.org)
- Subjects with juvenile-onset non- autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. (bvsalud.org)
- Wolfram syndrome is a terminal form of diabetes that results in the degradation of the nerve cells in the eyes, ears and brain, and in 60% of the cases, causes death before the patient's 30th birthday. (catchadream.org)
- In Wolfram syndrome, diabetes insipidus is associated with diabetes mellitus type 1, atrophy of the optic nerves and deafness. (endocrinesurgeon.co.uk)
Mutations1
- Wolfram syndrome was initially thought to be caused by mitochondrial dysfunction due to its symptoms and several reports of mitochondrial mutations. (wikipedia.org)
Multiple endocrine1
- Medullary thyroid carcinoma (MTC) occurs both sporadically and in the autosomal dominantly inherited multiple endocrine neoplasia (MEN) type 2 syndromes. (bepress.com)
Optic1
- To evaluate differences in macular and optic disc circulation in patients affected by Wolfram Syndrome (WS) employing optical coherence tomography-angiography (OCTA) imaging. (opticnervenetwork.com)
Diagnosis1
- The morphologic features of the peripheral blood and bone marrow are currently the gold standard for the diagnosis of myelodysplastic syndrome (MDS). (medscape.com)
Disease2
- It was first described in four siblings in 1938 by Dr. Don J. Wolfram, M.D. The disease affects the central nervous system (especially the brainstem). (wikipedia.org)
- Wolfram syndrome is a rare genetic disease. (health-lib.com)
Mutation2
- To pass on Wolfram syndrome, usually both biological parents must carry the same gene mutation. (health-lib.com)
- But in some cases, a person can inherit Wolfram syndrome type 1 when only one parent has the mutation. (health-lib.com)
Ulcers1
- In addition to the usual features of Wolfram syndrome type 1 (described above), individuals with Wolfram syndrome type 2 have stomach or intestinal ulcers and excessive bleeding after an injury. (medlineplus.gov)
Prevalence2
- The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people worldwide. (medlineplus.gov)
- Rossignol AM, Bonnlander H. Prevalence and severity of the premenstrual syndrome. (medscape.com)
Affects2
- Wolfram syndrome is a condition that affects many of the body's systems. (medlineplus.gov)
- One study estimated that Wolfram syndrome affects 1 in 770,000 people in the United Kingdom. (health-lib.com)
Dysfunction1
- However, it has now been established that Wolfram syndrome is caused by endoplasmic reticulum dysfunction. (wikipedia.org)
Disorders2
- Turner syndrome must be differentiated from other similar conditions which lead to multiple endocrine disorders such as autoimmune polyendocrine syndrome , POEMS syndrome , Hirata syndrome, Kearns-Sayre syndrome and Wolfram syndromes . (wikidoc.org)
- Myelodysplastic syndromes (MDS), as defined by the World Health Organization (WHO), represent clonal hematopoietic stem cell disorders resulting in ineffective hematopoiesis. (medscape.com)
Therapeutic1
- Wolfram syndrome: new pathophysiological insights and therapeutic strategies. (nih.gov)
Genetic disorder2
- BACKGROUND: Wolfram syndrome (WS) is a rare, autosomic recessive genetic disorder. (medscimonit.com)
- Her first child, Ellie, was born with a rare genetic disorder called Wolfram Syndrome. (kdvr.com)
Rare5
- Wolfram syndrome is a rare, inherited condition that usually appears in childhood. (health-lib.com)
- Because Wolfram syndrome is so rare, healthcare providers don't know exactly how often it occurs. (health-lib.com)
- Wolfram syndrome type 2 is extremely rare. (health-lib.com)
- European Reference Network on Rare Endocrine Conditions mission is to reduce and ultimately abolish inequalities in care for patients with rare endocrine conditions in Europe, through facilitating knowledge sharing and facilitating related healthcare en research. (endo-ern.eu)
- Ring chromosome 20 syndrome is a rare. (rarebeacon.org)
Hypopituitarism1
- Turner's syndrome must be differentiated from other diseases that cause latency in secondary sexual characteristics development, such as constitutional delay of puberty , hypopituitarism , delayed puberty , and chromosomal abnormalities . (wikidoc.org)
Type5
- Only a few families from Jordan have been found to have Wolfram syndrome type 2. (medlineplus.gov)
- What are the four most common features of Wolfram syndrome type 1? (health-lib.com)
- Symptoms of Wolfram syndrome type 1 may vary from person to person. (health-lib.com)
- What are the other symptoms of Wolfram syndrome type 1? (health-lib.com)
- If you want to type 'cell phone' and see all the data out there well organized, wolfram alpha is supposed to solve this. (wordnik.com)
Patients2
- As a carer of a son diagnosed with ring 20 syndrome, Allison Watson increasingly felt the need for a patient group that would provide support and advice to help families and patients cope with the condition. (rarebeacon.org)
- Syndrome of Inappropriate ADH Secretion (SIADH) The syndrome of inappropriate ADH (vasopressin) secretion is defined as less than maximally dilute urine in the presence of serum hypo-osmolality, in patients with normal adrenal, thyroid, renal. (msdmanuals.com)
Pediatric1
- MDS, which is uncommon in the pediatric population, is most often associated with inheritable genetic syndromes and rarely presents as RARS. (medscape.com)
Clinical3
- The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations . (bvsalud.org)
- Before the availability of genetic screening, NDM was classified based on the clinical course of transient NDM (TNDM), permanent NDM (PNDM), or a specific syndrome. (pfmjournal.org)
- Clinical features of the syndrome are nonspecific (eg, fatigue) and can be attributed to anemia associated with ineffective erythropoiesis. (medscape.com)
Study1
- Early life emotional, physical, and sexual abuse and the development of premenstrual syndrome: a longitudinal study. (medscape.com)
Severity2
- Premenstrual syndrome (PMS) is a recurrent luteal-phase condition characterized by physical, psychological, and behavioral changes of sufficient severity to result in deterioration of interpersonal relationships and normal activity. (medscape.com)
- Evaluating the effect of magnesium and magnesium plus vitamin B6 supplement on the severity of premenstrual syndrome. (medscape.com)
Features2
- There are two types of Wolfram syndrome with many overlapping features. (medlineplus.gov)
- The epidemiologic features of refractory anemia with ring sideroblasts (RARS) are similar to those of most other types of myelodysplastic syndrome (MDS). (medscape.com)
Primary1
- Not a primary source like wolfram , but it's more flexible and will give you structure, which a simple search lacks. (wordnik.com)
Research5
- Their rats are in our opinion the most reliable animal model available within the wolfram research environment. (eyehopefoundation.org)
- Since our start we have been the driving force for Wolfram Syndrome research around the world. (eyehopefoundation.org)
- Has there been any research into a cure for Wolfram's syndrome? (childrenwithdiabetes.com)
- And although the connection with Wolfram syndrome is indirect, if I had not become interested in the S1R as a result of Wolfram syndrome research, I might never have thought to use fluvoxamine as a treatment for Covid-19. (flippingbook.com)
- Founded in 2010, The Snowman Fund 's mission is to raise awareness of and funding for research that one day will stop the progression of Wolfram syndrome. (catchadream.org)
Page1
- Help support Wordnik (and make this page ad-free) by adopting the word wolfram . (wordnik.com)
Types1
- What are the types of Wolfram syndrome? (health-lib.com)
Common1
- How common is Wolfram syndrome? (health-lib.com)