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MCID: LKN001
MIFTS: 56
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Leukoencephalopathy with Vanishing White Matter
Categories:
Genetic diseases, Rare diseases, Neuronal diseases
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MalaCards integrated aliases for Leukoencephalopathy with Vanishing White Matter:
Characteristics:Orphanet epidemiological data:59
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
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:32
leukoencephalopathy with vanishing white matter:
Onset and clinical course juvenile onset Inheritance autosomal recessive inheritance Classifications:
ICD10:
33
34
External Ids:
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NIH Rare Diseases
:
53
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.
MalaCards based summary : Leukoencephalopathy with Vanishing White Matter, also known as cree leukoencephalopathy, is related to leukodystrophy and childhood ataxia with central nervous system hypomyelination/vanishing white matter, and has symptoms including lethargy, muscle spasticity and seizures. 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 Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include brain, spinal cord and cortex, and related phenotypes are macrocephaly and emotional lability 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 Genetics Home Reference : 25 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. 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) UniProtKB/Swiss-Prot : 75 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 : 76 Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological... more... |
Diseases related to Leukoencephalopathy with Vanishing White Matter via text searches within MalaCards or GeneCards Suite gene sharing:(show all 19)
Graphical network of the top 20 diseases related to Leukoencephalopathy with Vanishing White Matter:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:603896Human phenotypes related to Leukoencephalopathy with Vanishing White Matter:32 (show all 24)
UMLS symptoms related to Leukoencephalopathy with Vanishing White Matter:lethargy, muscle spasticity, seizures, personality changes, memory loss GenomeRNAi Phenotypes related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:26 (show all 29)
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Interventional clinical trials:
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MalaCards organs/tissues related to Leukoencephalopathy with Vanishing White Matter:41
Brain,
Spinal Cord,
Cortex
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Articles related to Leukoencephalopathy with Vanishing White Matter:(show all 25)
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- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Leukoencephalopathy with Vanishing White Matter:75 (show top 50) (show all 52)ClinVar genetic disease variations for Leukoencephalopathy with Vanishing White Matter:6
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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:37
Pathways related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:
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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 16)
Molecular functions related to Leukoencephalopathy with Vanishing White Matter according to GeneCards Suite gene sharing:
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