CREE LEUKOENCEPHALOPATHY

VWM5

CLE

http://purl.bioontology.org/ontology/OMIM/620315

CREE LEUKOENCEPHALOPATHY

VWM5

CLE

C5779973

3q27

CACH

EIF2B5

CLE

VWM5

http://purl.bioontology.org/ontology/OMIM/MTHU077617

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU077653

http://purl.bioontology.org/ontology/OMIM/MTHU077658

http://purl.bioontology.org/ontology/OMIM/MTHU077657

http://purl.bioontology.org/ontology/OMIM/MTHU050419

http://purl.bioontology.org/ontology/OMIM/MTHU001239

http://purl.bioontology.org/ontology/OMIM/MTHU077660

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU077632

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU077626

http://purl.bioontology.org/ontology/OMIM/MTHU001673

http://purl.bioontology.org/ontology/OMIM/MTHU077631

http://purl.bioontology.org/ontology/OMIM/MTHU077659

http://purl.bioontology.org/ontology/OMIM/MTHU077623

http://purl.bioontology.org/ontology/OMIM/MTHU036348

http://purl.bioontology.org/ontology/OMIM/MTHU077655

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU077644

http://purl.bioontology.org/ontology/OMIM/MTHU077654

http://purl.bioontology.org/ontology/OMIM/MTHU077656

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU077634

http://purl.bioontology.org/ontology/OMIM/MTHU001203

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU077615

Phenotype description, molecular basis known.

620315

3

pound

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5

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]

T047