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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Leukoencephalopathies (D056784)
Parent Node: Ovarian Diseases (D010049)
..Starting node ..Vanishing White Matter Leukodystrophy with Ovarian Failure (C565836)
Child Nodes:
Sister Nodes:
..Anovulation (D000858)
..Chondrodysplasia, acromesomelic, with genital anomalies (C537913)
..Menopause, Premature (D008594) 1
..Oophoritis (D009869) 1
..Ovarian Cysts (D010048) 5
..OVARIAN DYSGENESIS 1 (OMIM:233300)
..Ovarian Hyperstimulation Syndrome (D016471)
..Ovarian Neoplasms (D010051) 25
..Primary Ovarian Insufficiency (D016649) 9
..Vanishing White Matter Leukodystrophy with Ovarian Failure (C565836)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11518

Name:

Vanishing White Matter Leukodystrophy with Ovarian Failure

Definition:

Alternative IDs:

OMIM:603896

ParentIDs:

MESH:D010049|MESH:D056784

TreeNumbers:

C10.228.140.695/C565836 |C13.351.500.056.630/C565836 |C19.391.630/C565836

Synonyms:

CACH |CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION |CREE LEUKOENCEPHALOPATHY;CLE VANISHING WHITE MATTER LEUKODYSTROPHY WITH OVARIAN FAILURE, INCLUDED |LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER |Ovarioleukodystrophy |OVARIOLEUKODYSTROPH

Slim Mappings:

Endocrine system disease|Nervous system disease|Urogenital disease (female)

Reference:

MedGen: C565836
MeSH: C565836
OMIM: 603896;

Genes: EIF2B1; EIF2B2; EIF2B3; EIF2B4; EIF2B5;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset	HP:0040282
3	HP:0000618	Blindness	HP:0040283
4	HP:0006808	Cerebral hypomyelination
5	HP:0004485	Cessation of head growth
6	HP:0007305	CNS demyelination
7	HP:0008233	Decreased circulating progesterone
8	HP:0000746	Delusions
9	HP:0002376	Developmental regression
10	HP:0001260	Dysarthria
11	HP:0000712	Emotional lability
12	HP:0001288	Gait disturbance
13	HP:0001290	Generalized hypotonia
14	HP:0001252	Hypotonia
15	HP:0001254	Lethargy
16	HP:0002352	Leukoencephalopathy
17	HP:0000256	Macrocephaly	HP:0040282
18	HP:0002354	Memory impairment
19	HP:0000648	Optic atrophy
20	HP:0000751	Personality changes
21	HP:0008209	Premature ovarian insufficiency
22	HP:0008193	Primary gonadal insufficiency
23	HP:0000869	Secondary amenorrhea
24	HP:0001250	Seizure
25	HP:0001257	Spasticity
26	HP:0002317	Unsteady gait

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001414.3(EIF2B1):c.833C>G (p.Pro278Arg)	1967	EIF2B1	Pathogenic	863225049	RCV000201220;	N	MedGen:C1858991,OMIM:603896	12	124106388	124106388	NM_001414.3:c.833C>G	NP_001405.1:p.Pro278Arg	NC_000012.11:g.124106388G>C	OMIM Allelic Variant:606686.0004	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_001414.3(EIF2B1):c.824A>G (p.Tyr275Cys)	1967	EIF2B1	Pathogenic	758746181	RCV000201219;	N	MedGen:C1858991,OMIM:603896	12	124106397	124106397	NM_001414.3:c.824A>G	NP_001405.1:p.Tyr275Cys	NC_000012.11:g.124106397T>C	OMIM Allelic Variant:606686.0006	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_001414.3(EIF2B1):c.715T>G (p.Phe239Val)	1967	EIF2B1	Pathogenic	863225052	RCV000201226;	N	MedGen:C1858991,OMIM:603896	12	124107221	124107221	NM_001414.3:c.715T>G	NP_001405.1:p.Phe239Val	NC_000012.11:g.124107221A>C	OMIM Allelic Variant:606686.0007	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_001414.3(EIF2B1):c.622A>T (p.Asn208Tyr)	1967	EIF2B1	Pathogenic	113994007	RCV000004340;	N	MedGen:C1858991,OMIM:603896	12	124109339	124109339	NM_001414.3:c.622A>T	NP_001405.1:p.Asn208Tyr	NC_000012.11:g.124109339T>A	OMIM Allelic Variant:606686.0002	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_001414.3(EIF2B1):c.613_615delGGA (p.Gly205del)	1967	EIF2B1	Pathogenic	863225051	RCV000201218;	N	MedGen:C1858991,OMIM:603896	12	124109346	124109348	NM_001414.3:c.613_615delGGA	NP_001405.1:p.Gly205del	NC_000012.11:g.124109346_124109348delTCC	OMIM Allelic Variant:606686.0005	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_001414.3(EIF2B1):c.547G>T (p.Val183Phe)	1967	EIF2B1	Pathogenic	863225048	RCV000201228;	N	MedGen:C1858991,OMIM:603896	12	124110976	124110976	NM_001414.3:c.547G>T	NP_001405.1:p.Val183Phe	NC_000012.11:g.124110976C>A	OMIM Allelic Variant:606686.0003	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_001414.3(EIF2B1):c.328A>G (p.Lys110Glu)	1967	EIF2B1	Pathogenic	863225050	RCV000201227;	N	MedGen:C1858991,OMIM:603896	12	124114757	124114757	NM_001414.3:c.328A>G	NP_001405.1:p.Lys110Glu	NC_000012.11:g.124114757T>C	OMIM Allelic Variant:606686.0008	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_001414.3(EIF2B1):c.252+1G>A	1967	EIF2B1	Pathogenic	113994006	RCV000004339;	N	MedGen:C1858991,OMIM:603896	12	124114943	124114943	NM_001414.3:c.252+1G>A		NC_000012.11:g.124114943C>T	OMIM Allelic Variant:606686.0001	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_014239.3(EIF2B2):c.254T>A (p.Val85Glu)	8892	EIF2B2	Pathogenic	397514648	RCV000033202;	N	MedGen:C1858991,OMIM:603896	14	75470068	75470068	NM_014239.3:c.254T>A	NP_055054.1:p.Val85Glu	NC_000014.8:g.75470068T>A	OMIM Allelic Variant:606454.0006	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_014239.3(EIF2B2):c.599G>T (p.Gly200Val)	8892	EIF2B2	Likely pathogenic	113994012	RCV000190580;	N	MedGen:C1858991,OMIM:603896	14	75472570	75472570	NM_014239.3:c.599G>T	NP_055054.1:p.Gly200Val	NC_000014.8:g.75472570G>T	-	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_014239.3(EIF2B2):c.638A>G (p.Glu213Gly)	8892	EIF2B2	Pathogenic	104894425	RCV000004583; RCV000004584;	N	MedGen:C1847967; MedGen:C1858991,OMIM:603896	14	75472609	75472609	NM_014239.3:c.638A>G	NP_055054.1:p.Glu213Gly	NC_000014.8:g.75472609A>G	OMIM Allelic Variant:606454.0001	C1858991 603896 Leukoencephalopathy with vanishing white matter; C1847967 Ovarioleukodystrophy
NM_014239.3(EIF2B2):c.947T>A (p.Val316Asp)	8892	EIF2B2	Pathogenic	104894426	RCV000004585;	N	MedGen:C1858991,OMIM:603896	14	75475782	75475782	NM_014239.3:c.947T>A	NP_055054.1:p.Val316Asp	NC_000014.8:g.75475782T>A	OMIM Allelic Variant:606454.0002	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_020365.4(EIF2B3):c.1037T>C (p.Ile346Thr)	8891	EIF2B3	Pathogenic	119474039	RCV000004690;	N	MedGen:C1858991,OMIM:603896	1	45341306	45341306	NM_020365.4:c.1037T>C	NP_065098.1:p.Ile346Thr	NC_000001.10:g.45341306A>G	OMIM Allelic Variant:606273.0004	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_020365.4(EIF2B3):c.674G>A (p.Arg225Gln)	8891	EIF2B3	Pathogenic	113994024	RCV000004687;	N	MedGen:C1858991,OMIM:603896	1	45347394	45347394	NM_020365.4:c.674G>A	NP_065098.1:p.Arg225Gln	NC_000001.10:g.45347394C>T	OMIM Allelic Variant:606273.0001	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_020365.4(EIF2B3):c.260C>T (p.Ala87Val)	8891	EIF2B3	Pathogenic	113994022	RCV000004689;	N	MedGen:C1858991,OMIM:603896	1	45444021	45444021	NM_020365.4:c.260C>T	NP_065098.1:p.Ala87Val	NC_000001.10:g.45444021G>A	OMIM Allelic Variant:606273.0003	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_020365.4(EIF2B3):c.80T>A (p.Leu27Gln)	8891	EIF2B3	Pathogenic	397514647	RCV000033201;	N	MedGen:C1858991,OMIM:603896	1	45446761	45446761	NM_020365.4:c.80T>A	NP_065098.1:p.Leu27Gln	NC_000001.10:g.45446761A>T	OMIM Allelic Variant:606273.0005	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_001034116.1(EIF2B4):c.1191+1G>A	8890	EIF2B4	Pathogenic	113994037	RCV000004335;	N	MedGen:C1858991,OMIM:603896	2	27589625	27589625	NM_001034116.1:c.1191+1G>A		NC_000002.11:g.27589625C>T	OMIM Allelic Variant:606687.0003	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_001034116.1(EIF2B4):c.1120C>T (p.Arg374Cys)	8890	EIF2B4	Pathogenic	113994035	RCV000004334;	N	MedGen:C1858991,OMIM:603896	2	27589697	27589697	NM_001034116.1:c.1120C>T	NP_001029288.1:p.Arg374Cys	NC_000002.11:g.27589697G>A	OMIM Allelic Variant:606687.0002	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_001034116.1(EIF2B4):c.1070G>A (p.Arg357Gln)	8890	EIF2B4	Pathogenic	113994033	RCV000004333;	N	MedGen:C1858991,OMIM:603896	2	27589747	27589747	NM_001034116.1:c.1070G>A	NP_001029288.1:p.Arg357Gln	NC_000002.11:g.27589747C>T	OMIM Allelic Variant:606687.0001	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_001034116.1(EIF2B4):c.683C>T (p.Ala228Val)	8890	EIF2B4	Pathogenic	113994027	RCV000004336;	N	MedGen:C1858991,OMIM:603896	2	27590914	27590914	NM_001034116.1:c.683C>T	NP_001029288.1:p.Ala228Val	NC_000002.11:g.27590914G>A	OMIM Allelic Variant:606687.0004	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_003907.2(EIF2B5):c.166T>G (p.Phe56Val)	8893	EIF2B5	Pathogenic	113994043	RCV000006315;	N	MedGen:C1858991,OMIM:603896	3	183853339	183853339	NM_003907.2:c.166T>G	NP_003898.2:p.Phe56Val	NC_000003.11:g.183853339T>G	OMIM Allelic Variant:603945.0010	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_003907.2(EIF2B5):c.167T>G (p.Phe56Cys)	8893	EIF2B5	Pathogenic	121908541	RCV000006316;	N	MedGen:C1858991,OMIM:603896	3	183853340	183853340	NM_003907.2:c.167T>G	NP_003898.2:p.Phe56Cys	NC_000003.11:g.183853340T>G	OMIM Allelic Variant:603945.0011	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_003907.2(EIF2B5):c.271A>G (p.Thr91Ala)	8893	EIF2B5	Pathogenic	28939717	RCV000006305;	N	MedGen:C1858991,OMIM:603896	3	183854475	183854475	NM_003907.2:c.271A>G	NP_003898.2:p.Thr91Ala	NC_000003.11:g.183854475A>G	OMIM Allelic Variant:603945.0001	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_003907.2(EIF2B5):c.318A>T (p.Leu106Phe)	8893	EIF2B5	Pathogenic	113994048	RCV000175759;	N	MedGen:C1858991,OMIM:603896	3	183854522	183854522	NM_003907.2:c.318A>T	NP_003898.2:p.Leu106Phe	NC_000003.11:g.183854522A>T	-	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_003907.2(EIF2B5):c.338G>A (p.Arg113His)	8893	EIF2B5	Pathogenic	113994049	RCV000006308; RCV000006309;	N	MedGen:C1847967; MedGen:C1858991,OMIM:603896	3	183855425	183855425	NM_003907.2:c.338G>A	NP_003898.2:p.Arg113His	NC_000003.11:g.183855425G>A	OMIM Allelic Variant:603945.0004	C1858991 603896 Leukoencephalopathy with vanishing white matter; C1847967 Ovarioleukodystrophy
NM_003907.2(EIF2B5):c.545C>T (p.Thr182Met)	8893	EIF2B5	Pathogenic	113994053	RCV000006313;	N	MedGen:C1858991,OMIM:603896	3	183855724	183855724	NM_003907.2:c.545C>T	NP_003898.2:p.Thr182Met	NC_000003.11:g.183855724C>T	OMIM Allelic Variant:603945.0008	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_003907.2(EIF2B5):c.584G>A (p.Arg195His)	8893	EIF2B5	Pathogenic	113994054	RCV000006310;	Y	MedGen:C1858991,OMIM:603896	3	183855763	183855763	NM_003907.2:c.584G>A	NP_003898.2:p.Arg195His	NC_000003.11:g.183855763G>A	OMIM Allelic Variant:603945.0005	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_003907.2(EIF2B5):c.808G>C (p.Asp270His)	8893	EIF2B5	Pathogenic	397514646	RCV000033200;	N	MedGen:C1858991,OMIM:603896	3	183857910	183857910	NM_003907.2:c.808G>C	NP_003898.2:p.Asp270His	NC_000003.11:g.183857910G>C	OMIM Allelic Variant:603945.0012	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_003907.2(EIF2B5):c.925G>C (p.Val309Leu)	8893	EIF2B5	Pathogenic	113994061	RCV000006311;	N	MedGen:C1858991,OMIM:603896	3	183858287	183858287	NM_003907.2:c.925G>C	NP_003898.2:p.Val309Leu	NC_000003.11:g.183858287G>C	OMIM Allelic Variant:603945.0006	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_003907.2(EIF2B5):c.944G>A (p.Arg315His)	8893	EIF2B5	Pathogenic	113994064	RCV000006314;	N	MedGen:C1858991,OMIM:603896	3	183858306	183858306	NM_003907.2:c.944G>A	NP_003898.2:p.Arg315His	NC_000003.11:g.183858306G>A	OMIM Allelic Variant:603945.0009	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_003907.2(EIF2B5):c.1157G>T (p.Gly386Val)	8893	EIF2B5	Pathogenic	113994074	RCV000006307;	N	MedGen:C1858991,OMIM:603896	3	183859713	183859713	NM_003907.2:c.1157G>T	NP_003898.2:p.Gly386Val	NC_000003.11:g.183859713G>T	OMIM Allelic Variant:603945.0003	C1858991 603896 Leukoencephalopathy with vanishing white matter
NM_003907.2(EIF2B5):c.1882T>C (p.Trp628Arg)	8893	EIF2B5	Pathogenic	28937596	RCV000006306;	N	MedGen:C1858991,OMIM:603896	3	183861899	183861899	NM_003907.2:c.1882T>C	NP_003898.2:p.Trp628Arg	NC_000003.11:g.183861899T>C	OMIM Allelic Variant:603945.0002	C1858991 603896 Leukoencephalopathy with vanishing white matter