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Childhood Ataxia with Central Nervous System Hypomyelinization (CUI C1858991) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C1858991

NCI Thesaurus Code: C122664  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare, progressive neurological disorder inherited in an autosomal recessive pattern. It is caused by mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes, resulting in deterioration of central nervous system's white matter. Usually, there are no signs and symptoms of the disorder at birth. During early childhood, affected individuals develop spasticity and ataxia which may be associated with deterioration of the metal function. Examination of the brain at autopsy reveals normal gray matter while the white matter is soft and gelatinous with numerous small cavities.

GARD Definition: Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (brain and spinal cord). This disorder causes deterioration of the central nervous system's white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects the nerves. Most affected individuals begin to show signs and symptoms in early childhood, which include abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). Symptoms of this condition can be exacerbated by episodes of fever and/or head trauma. More severe forms, which are less common, may be apparent at birth.

This condition is inherited in an autosomal recessive fashion and is caused by mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes. - this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
CACH Syndromes
CACH syndrome
CACH VWM Syndromes
CACH VWM Syndrome
CACH/VWM syndrome
CACH
Centralis Diffusa, Myelinosis
Centralis Diffusas, Myelinosis
Childhood Ataxia with Central Nervous System Hypomyelination
Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood ataxia with diffuse central nervous system hypomyelination
CLE
Cree leukoencehalopathy
Cree Leukoencephalopathies
Cree Leukoencephalopathy
Diffusa, Myelinosis Centralis
Diffusas, Myelinosis Centralis
Leukoencephalopathies, Cree
Leukoencephalopathy with vanishing white matter
Leukoencephalopathy, Cree
Myelinosis Centralis Diffusas
Myelinosis centralis diffusa
Syndrome, CACH VWM
Syndrome, CACH
Syndromes, CACH VWM
Syndromes, CACH
Vanishing White Matter Leukodystrophy
VWM Syndrome, CACH
VWM Syndromes, CACH
VWM

External Source Codes: 
NCI Thesaurus Code C122664 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DISEASE_IDENTIFIER_ID 2002 GARD
DISEASE_IDENTIFIER_ID 2003 GARD
DISEASE_IDENTIFIER_ID 2004 GARD
DISEASE_IDENTIFIER_ID 2005 GARD
DISEASE_IDENTIFIER_ID 2006 GARD
GENELOCUS ,2,p,2,3,.,3, OMIM
GENESYMBOL EIF2B4 OMIM
HAS_GARD_PAGE true GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/231/leukoencephalopathy-with-vanishing-white-matter/resources/1 GARD
TERMUI T000888249 MSH
TERMUI T757790 MSH
TERMUI T768684 MSH
TERMUI T807477 MSH
TERMUI T831879 MSH
TERMUI T841917 MSH
TERMUI T843513 MSH
TERMUI T845105 MSH
TERMUI T845106 MSH
TH GHR (2014) MSH
TH NLM (2011) MSH
TH NLM (2016) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C1858991

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