ORPHA:662229

Episodic memory defect leukoencephalopathy

Synonyms: Hippocampal memory defect leukoencephalopathy · White matter hyperintensities-episodic memory defect leukoencephalopathy

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Episodic memory defect leukoencephalopathy	Hippocampal memory defect leukoencephalopathy · White matter hyperintensities-episodic memory defect leukoencephalopathy
fr	Leucoencéphalopathie à perte de mémoire épisodique
de	Episodische Gedächtnisstörungen und Leukoenzephalopathie	Hippocampus-Gedächtnisstörung mit Leukoenzephalopathie · Leukoenzephalopathie mit Hyperintensitäten der weißen Substanz und episodischen Gedächtnisstörungen
es	Defecto de la memoria episódica-leucoencefalopatía	Hiperintensidades de la sustancia blanca-defecto de la memoria episódica-leucoencefalopatía · Leucoencefalopatía por defecto de la memoria del hipocampo
it	Leucoencefalopatia con deficit mnemonici occasionali	Leucoencefalopatia con deficit mnemonici ippocampali
nl	Leuko-encefalopathie met defect van episodisch geheugen	Leuko-encefalopathie met defect van hippocampaal geheugen · Leuko-encefalopathie met hyperintensiteit van witte stof - defect van episodisch geheugen
pt	Leucoencefalopatia com alterações episódicas da memória	Hiperintensidades da substância branca-leucoencefalopatia com alterações episódicas da memória · Leucoencefalopatia com defeitos da memória do hipocampo
pl	Leukoencefalopatia z zaburzeniami pamięci epizodycznej	= en
cs	Leukoencefalopatie s poruchou epizodické paměti	= en
uk	Епізодична лейкоенцефалопатія з дефектом памяті	Лейкоенцефалопатія з гіпокампальним дефектом памяті · Гіперінтенсивність білої речовини - лейкоенцефалопатія з епізодичним дефектом памяті

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	621424	E		validated
ICD-10	G93.4	NTBT	attributed	validated
MONDO	0971077	E		validated
MONDO	971077	E		validated
UMLS	C5925071	E		validated

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

Classification

Preferential parent (Orphanet linearisation):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
LAMB1	Disease-causing germline mutation(s) in	Assessed	HGNC:6486	ENSG00000091136	150240	7q31.1	laminin subunit beta 1	37063705[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/662229
This record as JSON: /data/d/662229.json