loading...| Preferred Name | leukoencephalopathy with vanishing white matter | |
| Synonyms |
childhood ataxia with central nervous system hypomyelination CACH vanishing white matter leukodystrophy Cree leukoencephalopathy |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060868 |
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| database_cross_reference |
ORDO:135 GARD:231 OMIM:603896 ICD10CM:E75.2 |
|
| definition |
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. |
|
| has_exact_synonym |
childhood ataxia with central nervous system hypomyelination CACH vanishing white matter leukodystrophy Cree leukoencephalopathy |
|
| has_obo_namespace |
disease_ontology |
|
| IAO_0000115 |
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. |
|
| id |
DOID:0060868 |
|
| label |
leukoencephalopathy with vanishing white matter |
|
| notation |
DOID:0060868 |
|
| note |
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. |
|
| prefLabel |
leukoencephalopathy with vanishing white matter |
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| subClassOf |