PedAM

Pediatric Disease Annotations & Medicines


	leukoencephalopathy with vanishing white matter

Disease ID	1806
Disease	leukoencephalopathy with vanishing white matter
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.
Synonym	cach syndrome cach syndromes cach vwm syndrome cach vwm syndromes 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 cree leukoencephalopathies cree leukoencephalopathy diffusa, myelinosis centralis diffusas, myelinosis centralis leukoencephalopathies, cree leukoencephalopathy, cree myelinosis centralis diffusa myelinosis centralis diffusas syndrome, cach syndrome, cach vwm syndromes, cach syndromes, cach vwm vanishing white matter leukodystrophy vwm vwm syndrome, cach vwm syndromes, cach
Orphanet	ORPHANET:135 ORPHANET:99854
OMIM	OMIM:603896
UMLS	C1858991
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0270612 \| leukoencephalopathy \| 8 C0023522 \| metachromatic leukodystrophy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) EIF2B4 \| 8890 \| CLINVAR;ORPHANET;UNIPROT EIF2B5 \| 8893 \| CLINVAR;ORPHANET;UNIPROT EIF2B1 \| 1967 \| CLINVAR;ORPHANET;UNIPROT EIF2B2 \| 8892 \| CLINVAR;ORPHANET;UNIPROT EIF2B3 \| 8891 \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:114) 5019 \| OXCT1 \| DISEASES 23645 \| PPP1R15A \| DISEASES 1071 \| CETP \| DISEASES 11198 \| SUPT16H \| DISEASES 1983 \| EIF5 \| DISEASES 5020 \| OXT \| DISEASES 2222 \| FDFT1 \| DISEASES 2639 \| GCDH \| DISEASES 6404 \| SELPLG \| DISEASES 2703 \| GJA8 \| DISEASES 667 \| DST \| DISEASES 3852 \| KRT5 \| DISEASES 2670 \| GFAP \| DISEASES 3866 \| KRT15 \| DISEASES 6737 \| TRIM21 \| DISEASES 23378 \| RRP8 \| DISEASES 1965 \| EIF2S1 \| DISEASES 1535 \| CYBA \| DISEASES 51637 \| C14orf166 \| DISEASES 4016 \| LOXL1 \| DISEASES 7294 \| TXK \| DISEASES 25759 \| SHC2 \| DISEASES 6595 \| SMARCA2 \| DISEASES 55749 \| CCAR1 \| DISEASES 6713 \| SQLE \| DISEASES 8892 \| EIF2B2 \| DISEASES 597 \| BCL2A1 \| DISEASES 5045 \| FURIN \| DISEASES 1039 \| CDR2 \| DISEASES 8996 \| NOL3 \| DISEASES 863 \| CBFA2T3 \| DISEASES 10130 \| PDIA6 \| DISEASES 8893 \| EIF2B5 \| DISEASES 6770 \| STAR \| DISEASES 5047 \| PAEP \| DISEASES 738 \| VPS51 \| DISEASES 26040 \| SETBP1 \| DISEASES 9601 \| PDIA4 \| DISEASES 29028 \| ATAD2 \| DISEASES 3562 \| IL3 \| DISEASES 2923 \| PDIA3 \| DISEASES 116285 \| ACSM1 \| DISEASES 134526 \| ACOT12 \| DISEASES 1602 \| DACH1 \| DISEASES 5354 \| PLP1 \| DISEASES 154 \| ADRB2 \| DISEASES 3627 \| CXCL10 \| DISEASES 1938 \| EEF2 \| DISEASES 23209 \| MLC1 \| DISEASES 11007 \| CCDC85B \| DISEASES 1191 \| CLU \| DISEASES 8630 \| HSD17B6 \| DISEASES 56676 \| ASCL3 \| DISEASES 84938 \| ATG4C \| DISEASES 5339 \| PLEC \| DISEASES 7025 \| NR2F1 \| DISEASES 5034 \| P4HB \| DISEASES 5831 \| PYCR1 \| DISEASES 246329 \| STAC3 \| DISEASES 2242 \| FES \| DISEASES 79582 \| SPAG16 \| DISEASES 468 \| ATF4 \| DISEASES 10011 \| SRA1 \| DISEASES 1981 \| EIF4G1 \| DISEASES 6622 \| SNCA \| DISEASES 9623 \| TCL1B \| DISEASES 1811 \| SLC26A3 \| DISEASES 79971 \| WLS \| DISEASES 140885 \| SIRPA \| DISEASES 1822 \| ATN1 \| DISEASES 1644 \| DDC \| DISEASES 10298 \| PAK4 \| DISEASES 6942 \| TCF20 \| DISEASES 93034 \| NT5C1B \| DISEASES 8891 \| EIF2B3 \| DISEASES 23560 \| GTPBP4 \| DISEASES 4283 \| CXCL9 \| DISEASES 55157 \| DARS2 \| DISEASES 639 \| PRDM1 \| DISEASES 153 \| ADRB1 \| DISEASES 4803 \| NGF \| DISEASES 10660 \| LBX1 \| DISEASES 55361 \| PI4K2A \| DISEASES 5236 \| PGM1 \| DISEASES 953 \| ENTPD1 \| DISEASES 26027 \| ACOT11 \| DISEASES 5900 \| RALGDS \| DISEASES 6418 \| SET \| DISEASES 26147 \| PHF19 \| DISEASES 51230 \| PHF20 \| DISEASES 4593 \| MUSK \| DISEASES 11330 \| CTRC \| DISEASES 1184 \| CLCN5 \| DISEASES 375790 \| AGRN \| DISEASES 51199 \| NIN \| DISEASES 51520 \| LARS \| DISEASES 79962 \| DNAJC22 \| DISEASES 4599 \| MX1 \| DISEASES 81035 \| COLEC12 \| DISEASES 9612 \| NCOR2 \| DISEASES 7018 \| TF \| DISEASES 1052 \| CEBPD \| DISEASES 1385 \| CREB1 \| DISEASES 4719 \| NDUFS1 \| DISEASES 23533 \| PIK3R5 \| DISEASES 85443 \| DCLK3 \| DISEASES 8890 \| EIF2B4 \| DISEASES 1719 \| DHFR \| DISEASES 25821 \| MTO1 \| DISEASES 30836 \| DNTTIP2 \| DISEASES 1967 \| EIF2B1 \| DISEASES 56244 \| BTNL2 \| DISEASES 344 \| APOC2 \| DISEASES 692149 \| SCARNA14 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1806
Disease	leukoencephalopathy with vanishing white matter
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0002352 \| Leukoencephalopathy \| 8

Disease ID	1806
Disease	leukoencephalopathy with vanishing white matter
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:32)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894425	NA	8892	EIF2B2	umls:C1858991	CLINVAR	NA	0.362985861	NA	EIF2B2	14	75005906	A	G
rs104894426	NA	8892	EIF2B2	umls:C1858991	CLINVAR	NA	0.362985861	NA	EIF2B2	14	75009079	T	A
rs113994006	NA	1967	EIF2B1	umls:C1858991	CLINVAR	NA	0.362985861	NA	EIF2B1	12	123630396	C	T
rs113994007	NA	1967	EIF2B1	umls:C1858991	CLINVAR	NA	0.362985861	NA	EIF2B1	12	123624792	T	A
rs113994012	NA	8892	EIF2B2	umls:C1858991	CLINVAR	NA	0.362985861	NA	EIF2B2	14	75005867	G	C,T
rs113994022	NA	8891	EIF2B3	umls:C1858991	CLINVAR	NA	0.360271442	NA	EIF2B3	1	44978349	G	A
rs113994024	NA	8891	EIF2B3	umls:C1858991	CLINVAR	NA	0.360271442	NA	EIF2B3	1	44881722	C	T
rs113994027	NA	8890	EIF2B4	umls:C1858991	CLINVAR	NA	0.362985861	NA	EIF2B4	2	27368047	G	A
rs113994033	NA	8890	EIF2B4	umls:C1858991	CLINVAR	NA	0.362985861	NA	EIF2B4;LOC105374363	2	27366880	C	T
rs113994035	NA	8890	EIF2B4	umls:C1858991	CLINVAR	NA	0.362985861	NA	EIF2B4;LOC105374363	2	27366830	G	A
rs113994037	NA	8890	EIF2B4	umls:C1858991	CLINVAR	NA	0.362985861	NA	EIF2B4;LOC105374363	2	27366758	C	T
rs113994043	NA	8893	EIF2B5	umls:C1858991	CLINVAR	NA	0.361357209	NA	EIF2B5;LOC105374249	3	184135551	T	G
rs113994048	NA	8893	EIF2B5	umls:C1858991	CLINVAR	NA	0.361357209	NA	EIF2B5;LOC105374249	3	184136734	A	T
rs113994049	15776425	8893	EIF2B5	umls:C1858991	UNIPROT	In this study 15 well-characterised patients with the classical form of leukoencephalopathy with vanishing white matter (VWM) or with phenotypic variants like ovarioleukodystrophy were investigated for mutations in the genes EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 encoding eIF2B.	0.361357209	2005	EIF2B5	3	184137637	G	A
rs113994049	NA	8893	EIF2B5	umls:C1858991	CLINVAR	NA	0.361357209	NA	EIF2B5	3	184137637	G	A
rs113994053	NA	8893	EIF2B5	umls:C1858991	CLINVAR	NA	0.361357209	NA	EIF2B5	3	184137936	C	T
rs113994054	25457085	8893	EIF2B5	umls:C1858991	BeFree	Whole-exome sequencing identified two heterozygous mutations in the EIF2B5 gene: a known mutation, c.584G>A (R195H, which is homozygous in CLE), and a novel mutation, c.1223T>C (I408T, which resides in the I-patch).	0.361357209	2014	EIF2B5	3	184137975	G	A
rs113994054	12325082	8893	EIF2B5	umls:C1858991	UNIPROT	Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.	0.361357209	2002	EIF2B5	3	184137975	G	A
rs113994054	NA	8893	EIF2B5	umls:C1858991	CLINVAR	NA	0.361357209	NA	EIF2B5	3	184137975	G	A
rs113994061	NA	8893	EIF2B5	umls:C1858991	CLINVAR	NA	0.361357209	NA	EIF2B5	3	184140499	G	C
rs113994064	NA	8893	EIF2B5	umls:C1858991	CLINVAR	NA	0.361357209	NA	EIF2B5	3	184140518	G	A
rs113994074	NA	8893	EIF2B5	umls:C1858991	CLINVAR	NA	0.361357209	NA	EIF2B5	3	184141925	G	T
rs119474039	NA	8891	EIF2B3	umls:C1858991	CLINVAR	NA	0.360271442	NA	EIF2B3	1	44875634	A	G
rs121908541	NA	8893	EIF2B5	umls:C1858991	CLINVAR	NA	0.361357209	NA	EIF2B5;LOC105374249	3	184135552	T	G
rs28937596	11704758	8893	EIF2B5	umls:C1858991	UNIPROT	We have identified mutations in EIF2B5 and EIF2B2, encoding the epsilon- and beta-subunits of the translation initiation factor eIF2B and located on chromosomes 3q27 and 14q24, respectively, as causing VWM.	0.361357209	2001	EIF2B5	3	184144111	T	C
rs28937596	NA	8893	EIF2B5	umls:C1858991	CLINVAR	NA	0.361357209	NA	EIF2B5	3	184144111	T	C
rs28939717	NA	8893	EIF2B5	umls:C1858991	CLINVAR	NA	0.361357209	NA	EIF2B5;LOC105374249	3	184136687	A	G
rs28939717	11704758	8893	EIF2B5	umls:C1858991	UNIPROT	We have identified mutations in EIF2B5 and EIF2B2, encoding the epsilon- and beta-subunits of the translation initiation factor eIF2B and located on chromosomes 3q27 and 14q24, respectively, as causing VWM.	0.361357209	2001	EIF2B5;LOC105374249	3	184136687	A	G
rs397514646	NA	8893	EIF2B5	umls:C1858991	CLINVAR	NA	0.361357209	NA	EIF2B5	3	184140122	G	A,C,T
rs397514647	NA	8891	EIF2B3	umls:C1858991	CLINVAR	NA	0.360271442	NA	EIF2B3	1	44981089	A	T
rs397514648	NA	8892	EIF2B2	umls:C1858991	CLINVAR	NA	0.362985861	NA	EIF2B2	14	75003365	T	A
rs758746181	NA	1967	EIF2B1	umls:C1858991	CLINVAR	NA	0.362985861	NA	EIF2B1	12	123621850	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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