Entry Search - 603896 603945 606273 606454 606686 606687 620312 620313 620314 620315

Search: '603896 603945 606273 606454 606686 606687 620312 620313 620314 620315 (Search in: MIM number)'

Results: 10 entries.

# 603896. LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1; VWM1
Cytogenetic location: 12q24.31
Matching terms: 603896
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
12q24.31	Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure	603896	AR	3	EIF2B1	606686

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Leukoencephalopathy with vanishing white matter - PS603896 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p34.1	Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure	AR	3	620313	EIF2B3	606273
2p23.3	Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure	AR	3	620314	EIF2B4	606687
3q27.1	Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure	AR	3	620315	EIF2B5	603945
12q24.31	Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure	AR	3	603896	EIF2B1	606686
14q24.3	Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure	AR	3	620312	EIF2B2	606454

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Links
Testing GTR EuroGentest CACH syndrome Congenital or early infant… Late infantile CACH syndro… Juvenile or adult CACH syn… Ovarioleukodystrophy Cree leukoencephalopathy	Clinical Resources Clinical Trials EuroGentest CACH syndrome Congenital or early infant… Late infantile CACH syndro… Juvenile or adult CACH syn… Ovarioleukodystrophy Cree leukoencephalopathy Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet CACH syndrome Congenital or early infant… Late infantile CACH syndro… Juvenile or adult CACH syn… Ovarioleukodystrophy Cree leukoencephalopathy	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
ORPHA: 135, 157713, 157716, 157719, 99853, 99854 DO: 0070374

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* 606273. EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3; EIF2B3
Cytogenetic location: 1p34.1, Genomic coordinates (GRCh38): 1:44,850,522-44,986,595
Matching terms: 606273
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1p34.1	Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure	620313	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 603945. EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5
Cytogenetic location: 3q27.1, Genomic coordinates (GRCh38): 3:184,135,358-184,145,311
Matching terms: 603945
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3q27.1	Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure	620315	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 606686. EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1; EIF2B1
Cytogenetic location: 12q24.31, Genomic coordinates (GRCh38): 12:123,620,406-123,633,686
Matching terms: 606686
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q24.31	Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure	603896	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 606687. EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4; EIF2B4
Cytogenetic location: 2p23.3, Genomic coordinates (GRCh38): 2:27,364,352-27,370,338
Matching terms: 606687
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p23.3	Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure	620314	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 606454. EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2
Cytogenetic location: 14q24.3, Genomic coordinates (GRCh38): 14:75,002,921-75,012,366
Matching terms: 606454
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
14q24.3	Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure	620312	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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# 620312. LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2; VWM2
Cytogenetic location: 14q24.3
Matching terms: 620312
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
14q24.3	Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure	620312	AR	3	EIF2B2	606454

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Leukoencephalopathy with vanishing white matter - PS603896 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p34.1	Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure	AR	3	620313	EIF2B3	606273
2p23.3	Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure	AR	3	620314	EIF2B4	606687
3q27.1	Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure	AR	3	620315	EIF2B5	603945
12q24.31	Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure	AR	3	603896	EIF2B1	606686
14q24.3	Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure	AR	3	620312	EIF2B2	606454

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Links
Testing EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 135 DO: 0070373

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# 620313. LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3; VWM3
Cytogenetic location: 1p34.1
Matching terms: 620313
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1p34.1	Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure	620313	AR	3	EIF2B3	606273

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Leukoencephalopathy with vanishing white matter - PS603896 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p34.1	Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure	AR	3	620313	EIF2B3	606273
2p23.3	Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure	AR	3	620314	EIF2B4	606687
3q27.1	Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure	AR	3	620315	EIF2B5	603945
12q24.31	Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure	AR	3	603896	EIF2B1	606686
14q24.3	Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure	AR	3	620312	EIF2B2	606454

▲ Close

Links
Testing EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 135 DO: 0070372

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# 620314. LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4; VWM4
Cytogenetic location: 2p23.3
Matching terms: 620314
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2p23.3	Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure	620314	AR	3	EIF2B4	606687

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Leukoencephalopathy with vanishing white matter - PS603896 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p34.1	Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure	AR	3	620313	EIF2B3	606273
2p23.3	Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure	AR	3	620314	EIF2B4	606687
3q27.1	Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure	AR	3	620315	EIF2B5	603945
12q24.31	Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure	AR	3	603896	EIF2B1	606686
14q24.3	Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure	AR	3	620312	EIF2B2	606454

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 135 DO: 0070371

▲ Close

10:

# 620315. LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5; VWM5
Cytogenetic location: 3q27.1
Matching terms: 620315
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
3q27.1	Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure	620315	AR	3	EIF2B5	603945

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Leukoencephalopathy with vanishing white matter - PS603896 - 5 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p34.1	Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure	AR	3	620313	EIF2B3	606273
2p23.3	Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure	AR	3	620314	EIF2B4	606687
3q27.1	Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure	AR	3	620315	EIF2B5	603945
12q24.31	Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure	AR	3	603896	EIF2B1	606686
14q24.3	Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure	AR	3	620312	EIF2B2	606454

▲ Close

Links
Testing EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
ORPHA: 135 DO: 0070367

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Search: 603896 603945 606273 606454 606686 606687 620312 620313 620314 620315 (Search in: MIM number)

Results: 10 entries.

# 603896. LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 1; VWM1
Cytogenetic location: 12q24.31
Matching terms: 603896

* 606273. EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3; EIF2B3
Cytogenetic location: 1p34.1, Genomic coordinates (GRCh38): 1:44,850,522-44,986,595
Matching terms: 606273

* 603945. EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5; EIF2B5
Cytogenetic location: 3q27.1, Genomic coordinates (GRCh38): 3:184,135,358-184,145,311
Matching terms: 603945

* 606686. EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1; EIF2B1
Cytogenetic location: 12q24.31, Genomic coordinates (GRCh38): 12:123,620,406-123,633,686
Matching terms: 606686

* 606687. EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4; EIF2B4
Cytogenetic location: 2p23.3, Genomic coordinates (GRCh38): 2:27,364,352-27,370,338
Matching terms: 606687

* 606454. EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2; EIF2B2
Cytogenetic location: 14q24.3, Genomic coordinates (GRCh38): 14:75,002,921-75,012,366
Matching terms: 606454

# 620312. LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2; VWM2
Cytogenetic location: 14q24.3
Matching terms: 620312

# 620313. LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3; VWM3
Cytogenetic location: 1p34.1
Matching terms: 620313

# 620314. LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4; VWM4
Cytogenetic location: 2p23.3
Matching terms: 620314

10:

# 620315. LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5; VWM5
Cytogenetic location: 3q27.1
Matching terms: 620315

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