|
MCID: WLF004
MIFTS: 60
|
Wolfram Syndrome
Categories:
Blood diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Wolfram Syndrome:
Characteristics:Orphanet epidemiological data:60
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
Orphanet: 60
Rare eye diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
|
|
NIH Rare Diseases
:
54
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.
MalaCards based summary : Wolfram Syndrome, also known as diabetes mellitus and insipidus with optic atrophy and deafness, 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 Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and pituitary, and related phenotypes are diabetes mellitus and sensorineural hearing impairment Disease Ontology : 12 An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1). Genetics Home Reference : 26 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. Wikipedia : 77 Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and... more... |
Human phenotypes related to Wolfram Syndrome:60 33 (show all 41)
UMLS symptoms related to Wolfram Syndrome:seizures, ataxia, tremor MGI Mouse Phenotypes related to Wolfram Syndrome:47
|
Drugs for Wolfram Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 41)
Interventional clinical trials:
Cochrane evidence based reviews: wolfram syndrome |
MalaCards organs/tissues related to Wolfram Syndrome:42
Eye,
Brain,
Pituitary,
Pancreas,
Kidney,
Testes,
Hypothalamus
|
Articles related to Wolfram Syndrome:(show top 50) (show all 291)
|
Genes related to Wolfram Syndrome (2 elite genes):(show all 16) - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Wolfram Syndrome:6 (show top 50) (show all 87)
|
|
Search
GEO
for disease gene expression data for Wolfram Syndrome.
|
Pathways related to Wolfram Syndrome according to KEGG:38
|
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 15)
Molecular functions related to Wolfram Syndrome according to GeneCards Suite gene sharing:
|
|