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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620312
http://purl.bioontology.org/ontology/OMIM/620312
|
|---|---|
| Preferred Name | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 |
| Synonyms |
VWM2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | VWM2
|
|---|---|
| prefLabel | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2
|
| Gene Symbol |
EIF2B2
VWM2
|
| Scope Statement | 19% had mutations in EIF2B2 [MISCELLANEOUS]
In mutational analysis of EIF2B genes in 68 families [MISCELLANEOUS]
Onset variable from infancy (early-onset) to adulthood (late-onset) [MISCELLANEOUS]
Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 2 gene (EIF2B2, 606454.0001) [MOLECULAR BASIS]
Chronic, progressive disease with episodes of rapid deterioration with loss of motor functioning and possible coma [MISCELLANEOUS]
Subset of patients with ovarian failure and later onset of neurologic dysfunction [MISCELLANEOUS]
Episodic deterioration provoked following fever or head trauma [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q24
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620312
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830404
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |