ORPHA:99854

Cree leukoencephalopathy

This disease is described under CACH syndrome

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Cree leukoencephalopathy
fr	Leucoencéphalopathie crie
de	Cree-Leukoenzephalopathie
es	Leucoencefalopatía de Cree
it	Leucoencefalopatia di Cree
nl	Cree-leuko-encefalopathie
pt	Leucoencefalopatia de Cree
pl	Leukoencefalopatia Cree'a
cs	Kríjská leukoencefalopatie
uk	Лейкоенцефалопатія племені Кри
zh	印第安人脑白质病
tr	Cree lökoensefalopati

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	603896	NTBT		validated
ICD-10	E75.2	NTBT	attributed	validated
ICD-11	8A44.3	NTBT	index	validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

5 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
EIF2B1	Disease-causing germline mutation(s) in	Assessed	HGNC:3257	ENSG00000111361	606686	12q24.31	eukaryotic translation initiation factor 2B subunit alpha	20301435[PMID]_15136673[PMID]
EIF2B2	Disease-causing germline mutation(s) in	Assessed	HGNC:3258	ENSG00000119718	606454	14q24.3	eukaryotic translation initiation factor 2B subunit beta	20301435[PMID]_15136673[PMID]
EIF2B3	Disease-causing germline mutation(s) in	Assessed	HGNC:3259	ENSG00000070785	606273	1p34.1	eukaryotic translation initiation factor 2B subunit gamma	20301435[PMID]_15136673[PMID]
EIF2B4	Disease-causing germline mutation(s) in	Assessed	HGNC:3260	ENSG00000115211	606687	2p23.3	eukaryotic translation initiation factor 2B subunit delta	20301435[PMID]_15136673[PMID]
EIF2B5	Disease-causing germline mutation(s) in	Assessed	HGNC:3261	ENSG00000145191	603945	3q27.1	eukaryotic translation initiation factor 2B subunit epsilon	20301435[PMID]_15136673[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.