Leukoencephalopathy with vanishing white matter 1

Preferred Label : Leukoencephalopathy with vanishing white matter 1;

Symbol : VWM1;

CISMeF acronym : VWM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Childhood ataxia with central nervous system hypomyelinization; Vanishing white matter leukodystrophy; CACH;

Description : Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 1 gene (EIF2B1, 606686.0001); Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 3 gene (EIF2B3, 606273.0001); Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 4 gene (EIF2B4, 606687.0001); Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 2 gene (EIF2B2, 606454.0001); Caused by mutation in the eukaryotic translation initiation factor 2B, subunit 5 gene (EIF2B5, 603945.0001);

Prefixed ID : #603896;

Details

Origin ID

603896;

UMLS CUI

C5779972;

Automatic exact mappings (from CISMeF team)
- Barrett Esophagus [NCIt concept]
- Confocal Laser Endomicroscopy [NCIt concept]
- Congenital or early infantile CACH syndrome [ORDO Disease]
- Cree leukoencephalopathy [ICD-11 More detail]
- Cree leukoencephalopathy [ORDO Disease]
- EIF2B5 wt Allele [NCIt concept]
- Hidden [NCIt concept]
- Juvenile or adult CACH syndrome [ORDO Disease]
- Late infantile CACH syndrome [ORDO Disease]
- Memory Cache [NCIt concept]
- Occult (qualifier value) [SNOMED CT concept]
- Ovarioleukodystrophy [ICD-11 More detail]
- Speckled (qualifier value) [SNOMED CT concept]
- childhood ataxia with central nervous system hypomyelinization [MeSH concept]
- cutaneous lupus erythematosus, nos [SNOMED Notion]
- leukoencephalopathies [MeSH Descriptor]
- lupus erythematosus, cutaneous [MeSH concept]
- lupus erythematosus, cutaneous [MeSH Descriptor]
- occult [SNOMED Notion]
- spinal stenosis [MeSH Descriptor]
Currated CISMeF NLP mapping
- CACH syndrome [ICD-11 More detail]
- CACH syndrome [ORDO Disease]
- Leukoencephalopathy with Vanishing White Matter [NCIt concept]
- Ovarioleukodystrophy [ORDO Disease]
- Vanishing white matter disease (disorder) [SNOMED CT concept]
- leukoencephalopathy with vanishing white matter [DO Concept]
- leukoencephalopathy with vanishing white matter [Disease (Nov.)]
- vanishing white matter leukodystrophy with ovarian failure [MeSH concept]
DO Cross reference
- leukoencephalopathy with vanishing white matter [DO Concept]
Genes related to phenotype
- Eukaryotic translation initiation factor 2b, subunit 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- CNS demyelination [HPO term]
- Cerebral hypomyelination [HPO term]
- Cessation of head growth [HPO term]
- Decreased circulating progesterone [HPO term]
- Delusions [HPO term]
- Demyelination [HPO term]
- Developmental regression [HPO term]
- Dysarthria [HPO term]
- Emotional lability [HPO term]
- Fever [HPO term]
- Gait disturbance [HPO term]
- Generalized hypotonia [HPO term]
- Gliosis [HPO term]
- Hypotonia [HPO term]
- Juvenile onset [HPO term]
- Lethargy [HPO term]
- Leukoencephalopathy [HPO term]
- Leukoencephalopathy, severe [HPO term]
- Macrocephaly [HPO term]
- Memory impairment [HPO term]
- Memory loss [HPO term]
- Optic atrophy [HPO term]
- Personality changes [HPO term]
- Premature ovarian insufficiency [HPO term]
- Primary amenorrhea [HPO term]
- Primary gonadal insufficiency [HPO term]
- Secondary amenorrhea [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Unsteady gait [HPO term]
Narrower ORDO disease(s)
- Congenital or early infantile CACH syndrome [ORDO Disease]
- Juvenile or adult CACH syndrome [ORDO Disease]
- Late infantile CACH syndrome [ORDO Disease]
ORDO concept(s)
- CACH syndrome [ORDO Disease]
- Congenital or early infantile CACH syndrome [ORDO Disease]
- Cree leukoencephalopathy [ORDO Disease]
- Juvenile or adult CACH syndrome [ORDO Disease]
- Late infantile CACH syndrome [ORDO Disease]
- Ovarioleukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CACH syndrome [ORDO Disease]
- Cree leukoencephalopathy [ORDO Disease]
- Leukoencephalopathy with Vanishing White Matter [NCIt concept]
- Vanishing white matter disease (disorder) [SNOMED CT concept]
- childhood ataxia with central nervous system hypomyelinization [MeSH concept]
- leukoencephalopathy with vanishing white matter [DO Concept]
- leukoencephalopathy with vanishing white matter [Disease (Nov.)]
Validated automatic mappings to BTNT
- vanishing white matter leukodystrophy with ovarian failure [MeSH Supplementary Concept]

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