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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/620315
http://purl.bioontology.org/ontology/OMIM/620315
|
|---|---|
| Preferred Name | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5 |
| Synonyms |
CREE LEUKOENCEPHALOPATHY
VWM5
CLE
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CREE LEUKOENCEPHALOPATHY
VWM5
CLE
|
|---|---|
| prefLabel | LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5
|
| Gene Symbol |
CACH
EIF2B5
CLE
VWM5
|
| notation | 620315
|
| Scope Statement | In mutational analysis of EIF2B genes in 68 families [MISCELLANEOUS]
62% had mutations in EIF2B5 [MISCELLANEOUS]
Onset variable from infancy (early-onset) to adulthood (late-onset) [MISCELLANEOUS]
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]
Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 5 gene (EIF2B5, 603945.0001) [MOLECULAR BASIS]
Cree leukoencephalopathy is a rapidly fatal infantile variant (onset 3-9 months) in the Canadian Cree and Chippewayan indigenous population [MISCELLANEOUS]
Episodic deterioration provoked following fever, head trauma, or fright [MISCELLANEOUS]
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| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 3q27
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| tui | T047
|
| cui | C5779973
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