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WFS
MCID: WLF004
MIFTS: 60
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Wolfram Syndrome (WFS)
Categories:
Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Wolfram Syndrome:
Characteristics:Orphanet epidemiological data:58
wolfram syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United Kingdom),1-9/1000000 (India),1-9/1000000 (Worldwide),1-9/100000,1-9/1000000 (Japan),1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: adult; Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Eye diseases Ear diseases Endocrine diseases Neuronal diseases Blood diseases
ICD10:
33
Orphanet: 58
Rare eye diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis |
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Genetics Home Reference :
25
Wolfram syndrome is a condition that affects many of the body's systems. The hallmark features of Wolfram syndrome are high blood sugar levels resulting from a shortage of the hormone insulin (diabetes mellitus) and progressive vision loss due to degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). People with Wolfram syndrome often also have pituitary gland dysfunction that results in the excretion of excessive amounts of urine (diabetes insipidus), hearing loss caused by changes in the inner ear (sensorineural deafness), urinary tract problems, reduced amounts of the sex hormone testosterone in males (hypogonadism), or neurological or psychiatric disorders.
Diabetes mellitus is typically the first symptom of Wolfram syndrome, usually diagnosed around age 6. Nearly everyone with Wolfram syndrome who develops diabetes mellitus requires insulin replacement therapy. Optic atrophy is often the next symptom to appear, usually around age 11. The first signs of optic atrophy are loss of color vision and side (peripheral) vision. Over time, the vision problems get worse, and people with optic atrophy are usually blind within approximately 8 years after signs of optic atrophy first begin.
In diabetes insipidus, the pituitary gland, which is located at the base of the brain, does not function normally. This abnormality disrupts the release of a hormone called vasopressin, which helps control the body's water balance and urine production. Approximately 70 percent of people with Wolfram syndrome have diabetes insipidus. Pituitary gland dysfunction can also cause hypogonadism in males. The lack of testosterone that occurs with hypogonadism affects growth and sexual development. 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. Sixty to 90 percent of people with Wolfram syndrome have a urinary tract problem. Urinary tract problems include obstruction of the ducts between the kidneys and bladder (ureters), a large bladder that cannot empty normally (high-capacity atonal bladder), disrupted urination (bladder sphincter dyssynergia), and difficulty controlling the flow of urine (incontinence).
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. 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, loss of the gag reflex, muscle spasms (myoclonus), seizures, reduced sensation in the lower extremities (peripheral neuropathy), and intellectual impairment. Psychiatric disorders associated with Wolfram syndrome include psychosis, episodes of severe depression, and impulsive and aggressive behavior.
There are two types of Wolfram syndrome with many overlapping features. The two types are differentiated by their genetic cause. In addition to the usual features of Wolfram syndrome, individuals with Wolfram syndrome type 2 have stomach or intestinal ulcers and excessive bleeding after an injury. The tendency to bleed excessively combined with the ulcers typically leads to abnormal bleeding in the gastrointestinal system. People with Wolfram syndrome type 2 do not develop diabetes insipidus.
Wolfram syndrome is often 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.
MalaCards based summary : Wolfram Syndrome, also known as didmoad syndrome, is related to wolfram syndrome 2 and wolfram syndrome 1, and has symptoms including seizures, ataxia and tremor. An important gene associated with Wolfram Syndrome is WFS1 (Wolframin ER Transmembrane Glycoprotein), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Neuroscience. The drugs Acetylcysteine and Iron have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and kidney, and related phenotypes are sensorineural hearing impairment and optic atrophy Disease Ontology : 12 A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. NIH Rare Diseases : 52 Wolfram syndrome , which is also known by the acronym DIDMOAD, is an inherited condition characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), a gradual loss of vision caused by optic atrophy (OA), and deafness (D). Other symptoms may include bladder and bowel dysfunction, problems with the parts of the inner ear and brain that help control balance and eye movements (vestibular deficits), temperature regulation problems, decreased balance, uncoordinated (ataxic) gait and olfactory deficits. Also, psychiatric symptoms such as anxiety and depression have also been noted in some cases. There are two types of Wolfram syndrome (type 1 and type 2) which are primarily differentiated by their genetic cause. Type 1 is caused by changes (mutations ) in the WFS1 gene , while type 2 is caused by mutations in the CISD2 gene. Both forms are inherited in an autosomal recessive manner. However, some cases of Wolfram syndrome type 1 have an autosomal dominant inheritance and are more severe. Diagnosis is suspected in cases of childhood-onset diabetes mellitus and optic atrophy, and this visual impairment is not due to the diabetes. Treatment is symptomatic and supportive. KEGG : 36 Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Two different categories of WFS (WFS1 and 2) are recognized, each with its own subset of variable symptoms, and resulting from mutations in the WFS1 and CISD2 genes, respectively. The WFS1 encodes an endoplasmic reticulum membrane-embedded protein. ERIS, the protein that CISD2 encodes, also localizes to the endoplasmic reticulum. Wikipedia : 74 Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and... more... |
Human phenotypes related to Wolfram Syndrome:58 31 (show all 41)
UMLS symptoms related to Wolfram Syndrome:seizures, ataxia, tremor MGI Mouse Phenotypes related to Wolfram Syndrome:45
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Drugs for Wolfram Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 36)
Interventional clinical trials:
Cochrane evidence based reviews: wolfram syndrome |
Genetic tests related to Wolfram Syndrome:
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MalaCards organs/tissues related to Wolfram Syndrome:40
Brain,
Eye,
Kidney,
Pituitary,
Skeletal Muscle,
Pancreas,
Testes
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Articles related to Wolfram Syndrome:(show top 50) (show all 599)
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Genes related to Wolfram Syndrome (2 elite genes):(show all 38) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Wolfram Syndrome:6 (show top 50) (show all 59)
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Search
GEO
for disease gene expression data for Wolfram Syndrome.
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Pathways related to Wolfram Syndrome according to KEGG:36
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Cellular components related to Wolfram Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Wolfram Syndrome according to GeneCards Suite gene sharing:(show all 12)
Molecular functions related to Wolfram Syndrome according to GeneCards Suite gene sharing:
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