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VWM
MCID: LKN001
MIFTS: 63
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Leukoencephalopathy with Vanishing White Matter (VWM)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leukoencephalopathy with Vanishing White Matter:
Characteristics:Orphanet epidemiological data:58
cach syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;
ovarioleukodystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: adult; OMIM®:57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset usually in late infancy or childhood (1 to 6 years) onset may also occur in early infancy, adolescence, or adulthood early death occurs in affected infants (days to months after disease onset) HPO:31
leukoencephalopathy with vanishing white matter:
Inheritance autosomal recessive inheritance Onset and clinical course juvenile onset Classifications:
ICD10:
32
33
Orphanet: 58
Rare neurological diseases External Ids:
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MedlinePlus Genetics :
43
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects nerves.In most cases, people with leukoencephalopathy with vanishing white matter show no signs or symptoms of the disorder at birth. Affected children may have slightly delayed development of motor skills such as crawling or walking. During early childhood, most affected individuals begin to develop motor symptoms, including abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). There may also be some deterioration of mental functioning, but this is not usually as pronounced as the motor symptoms. Some affected females may have abnormal development of the ovaries (ovarian dysgenesis). Specific changes in the brain as seen using magnetic resonance imaging (MRI) are characteristic of leukoencephalopathy with vanishing white matter, and may be visible before the onset of symptoms.While childhood onset is the most common form of leukoencephalopathy with vanishing white matter, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood, when behavioral or psychiatric problems may be the first signs of the disease. Some females with milder forms of leukoencephalopathy with vanishing white matter who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.Progression of leukoencephalopathy with vanishing white matter is generally uneven, with periods of relative stability interrupted by episodes of rapid decline. People with this disorder are particularly vulnerable to stresses such as infection, mild head trauma or other injury, or even extreme fright. These stresses may trigger the first symptoms of the condition or worsen existing symptoms, and can cause affected individuals to become lethargic or comatose.
MalaCards based summary : Leukoencephalopathy with Vanishing White Matter, also known as cree leukoencephalopathy, is related to childhood ataxia with central nervous system hypomyelination / vanishing white matter and leukoencephalopathy, progressive, with ovarian failure, and has symptoms including seizures, lethargy and personality changes. An important gene associated with Leukoencephalopathy with Vanishing White Matter is EIF2B5 (Eukaryotic Translation Initiation Factor 2B Subunit Epsilon), and among its related pathways/superpathways are RNA transport and Viral mRNA Translation. Affiliated tissues include spinal cord, thalamus and pons, and related phenotypes are brain imaging abnormality and dysmyelinating leukodystrophy Disease Ontology : 12 A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood that has material basis in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27. GARD : 20 Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Most affected people begin to have signs and symptoms during childhood, but symptoms may first become apparent anywhere from before birth to adulthood. Symptoms may include difficulty coordinating movements ( ataxia ); muscle stiffness ( spasticity ); and optic atrophy. Symptoms may worsen rapidly with episodes of fever, after head trauma, or with other stresses on the body. This disorder may be caused by mutations in any of 5 genes and is inherited in an autosomal recessive manner. There is no specific treatment, and prognosis seems to correlate with the age of onset, the earliest forms being more severe. OMIM® : 57 Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997). (603896) (Updated 20-May-2021) KEGG : 36 Leukoencephalopathy with vanishing white matter (VWM), also referred to as childhood ataxia with diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood disorders of cerebral white matter. This autosomal recessive progressive neurological disorder usually begins in early childhood, but a wide spectrum of clinical severity is now recognized from fatal infantile forms such as Cree leukoencephalopathy to mild later-onset forms associated with ovarian failure. The principal findings are cerebellar ataxia and spasticity with relative preservation of mental abilities. Nearly all patients have mutations in any of the 5 genes encoding the eukaryotic translation initiation factor eIF2B. Mutated eIF2B could impair the ability of cells to regulate protein synthesis, especially under conditions of cell stress. UniProtKB/Swiss-Prot : 72 Leukodystrophy with vanishing white matter: A leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. Wikipedia : 73 Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological... more... |
Human phenotypes related to Leukoencephalopathy with Vanishing White Matter:58 31 (show top 50) (show all 74)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)Clinical features from OMIM®:603896 (Updated 20-May-2021)UMLS symptoms related to Leukoencephalopathy with Vanishing White Matter:seizures; lethargy; personality changes; memory loss; muscle spasticity GenomeRNAi Phenotypes related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:26 (show all 49)
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Interventional clinical trials:
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MalaCards organs/tissues related to Leukoencephalopathy with Vanishing White Matter:40
Spinal Cord,
Thalamus,
Pons,
Brain,
Cortex
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Articles related to Leukoencephalopathy with Vanishing White Matter:(show top 50) (show all 102)
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Genes related to Leukoencephalopathy with Vanishing White Matter (8 elite genes):(show top 50) (show all 61) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukoencephalopathy with Vanishing White Matter:6 (show top 50) (show all 319)
UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy with Vanishing White Matter:72 (show top 50) (show all 52)
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Search
GEO
for disease gene expression data for Leukoencephalopathy with Vanishing White Matter.
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Pathways related to Leukoencephalopathy with Vanishing White Matter according to KEGG:36
Pathways related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:(show all 12)
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Cellular components related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:
Biological processes related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:(show all 19)
Molecular functions related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:
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