About: Leukoencephalopathy with vanishing white matter

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Leukoencephalopathy with vanishing white matter Goto Sponge NotDistinct Permalink

An Entity of Type : umbel-rc:AilmentCondition, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)
QRcode icon

http://dbpedia.demo.openlinksw.com/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FLeukoencephalopathy_with_vanishing_white_matter&invfp=IFP_OFF&sas=SAME_AS_OFF

Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor eIF2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5. The disease belongs to a family of conditions called the Leukodystrophies.

Attributes	Values
rdf:type	Thing Disease yago:WikicatNeurodegenerativeDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisorders disease yago:State100024720 umbel-rc:AilmentCondition
rdfs:label	اعتلال بيضاء الدماغ مع تلاشي المادة البيضاء (ar) CACH-Syndrom (de) Syndrome CACH (fr) Leukoencephalopathy with vanishing white matter (en) Leukoencefalopatia z zanikającą istotą białą (pl)
rdfs:comment	اعتلال بيضاء الدماغ مع تلاشي المادة البيضاء (مرض VWM) هو مرض عصبي متنحي وراثي. يحدث المرض بسبب طفرات في أي من الوحدات الفرعية لترميز الجينات الخمسة لعامل بدء التحويل eIF2B: EIF2B1 أو EIF2B2 أو EIF2B3 أو EIF2B4 أو EIF2B5. ينتمي المرض إلى عائلة من الحالات تسمى حثل الكريات البيض. (ar) Das CACH-Syndrom, englisch Akronym für Childhood Ataxie mit Central nervous system Hypomyelinisation, ist eine sehr seltene angeborene Leukenzephalopathie mit den namensgebenden Hauptmerkmalen. Synonyme sind: Infantile Ataxie mit diffuser Hypomyelinisierung des ZNS; Leukoenzephalopathie mit Verlust der weißen Hirnsubstanz; Myelinosis centralis diffusa; Cree-Leukoenzephalopathie; Ovarioleukodystrophie englisch Leukoencephalopathy with vanishing white matter; Vanishing White Matter; VWM Die Erstbeschreibung stammt aus dem Jahre 1997 durch Marjo van der Knaap und Mitarbeiter. (de) Leukoencephalopathy with vanishing white matter (VWM disease) is an autosomal recessive neurological disease. The cause of the disease are mutations in any of the 5 genes encoding subunits of the translation initiation factor eIF2B: EIF2B1, EIF2B2, EIF2B3, EIF2B4, or EIF2B5. The disease belongs to a family of conditions called the Leukodystrophies. (en) Leukoencefalopatia z zanikającą istotą białą (leukoencefalopatia Kri, ang. leukoencephalopathy with vanishing white matter, VWM disease) – rzadka, uwarunkowana genetycznie choroba neurodegeneracyjna. Choroba rozwija się w wieku dziecięcym (między 3. a 19. rokiem życia), objawiając się epizodami ataksji i spastyczności oraz zaburzeniami świadomości o różnym nasileniu, skojarzonych z banalnymi urazami lub infekcjami. U pacjentów z rozpoznaną chorobą wykryto mutacje w genach kodujących czynnik inicjacji translacji : EIF2B1 (OMIM 606686), EIF2B2 (OMIM 606454), EIF2B3 (OMIM 606273), EIF2B4 (OMIM 606687) i EIF2B5 (OMIM 603945). (pl) Le syndrome CACH (acronyme pour l'anglais : Childhood Ataxia with Central Hypomyelination, soit « ataxie infantile avec hypomyélinisation centrale ») est une leucodystrophie se manifestant par une ataxie, une hypertonie musculaire et des troubles de la vue par atrophie de nerf optique. Les manifestations débutant soit dès la naissance ou dans les premières années et aboutissant au bout de quelques années au décès du patient. (fr)
foaf:depiction
dcterms:subject	Rare diseases Demyelinating diseases of CNS
Wikipage page ID	11864399 (xsd:integer)
Wikipage revision ID	1104770380 (xsd:integer)
Link from a Wikipage to another Wikipage	Psychosis Schizophrenia Epilepsy Mutation Metachromatic leukodystrophy EIF2B Inflammation Leukodystrophy Leukoencephalopathy Cree dbr:Melatonin The Stennis Foundation Gene Glial cells Glucose Multiple sclerosis Lipids MRI Macrophages Progressive multifocal leukoencephalopathy Microglia Autosomal recessive Axons B cells Guanosine-5'-triphosphate Premature ovarian failure Amenorrhoea Diffuse myelinoclastic sclerosis Fluid attenuated inversion recovery Rare diseases Guanosine diphosphate Histidine Ataxia EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 Reactive arthritis Arginine Astrocytes Demyelinating diseases of CNS Lactic acid T cells Asphyxia Apoptotic CADASIL Physiological stress Spasticity Metabolic diseases Marjo van der Knaap White matter Thought insertion Excitotoxicity Oxidative stress Oligodendrocytes Leukodystrophies Translation initiation factor Optic atrophy Misdiagnosis Demyelination Multiple sclerosis with cavitary lesions
Link from a Wikipage to an external page	http://www.asnr.org/neurographics/2/1/1/12.shtml
sameAs	Leukoencephalopathy with vanishing white matter Leukoencephalopathy with vanishing white matter Leukoencephalopathy with vanishing white matter

Faceted Search & Find service v1.17_git139 as of Feb 29 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3330 as of Mar 19 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (378 GB total memory, 67 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software