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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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Disease Browser
Parent Node: Cysts (D003560)
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
..Starting node ..Megalencephalic leukoencephalopathy with subcortical cysts (C536141)
Child Nodes:
Sister Nodes:
..Adrenoleukodystrophy (D000326) 4
..Alexander Disease (D038261) 1
..Canavan Disease (D017825)
..Dysmyelination With Jaundice (C565610)
..Hypomyelination, Global Cerebral (C567847)
..Leukodystrophy, Dysmyelinating, with Oligodontia (C564344)
..Leukodystrophy, Globoid Cell (D007965) 1
..Leukodystrophy, Hypomyelinating, 2 (C563855)
..Leukodystrophy, Hypomyelinating, 4 (C567390)
..Leukodystrophy, Hypomyelinating, 5 (C567166)
..Leukodystrophy, Hypomyelinating, 6 (C567314)
..Leukodystrophy, Metachromatic (D007966) 5
..Megalencephalic leukoencephalopathy with subcortical cysts (C536141)
..Megalencephaly with Dysmyelination (C565408)
..Optic Atrophy with Demyelinating Disease of CNS (C563496)
..Pelizaeus-Merzbacher Disease (D020371) 1
..Vasculopathy, Retinal, With Cerebral Leukodystrophy (C566007)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6892

Name:

Megalencephalic leukoencephalopathy with subcortical cysts

Definition:

Alternative IDs:

OMIM:604004

ParentIDs:

MESH:D003560|MESH:D020279

TreeNumbers:

C04.182/C536141 |C10.228.140.163.100.362/C536141 |C10.228.140.695.625/C536141 |C10.314.400/C536141 |C10.574.500.494/C536141 |C16.320.400.367/C536141 |C16.320.565.189.362/C536141 |C18.452.132.100.362/C536141 |C18.452.648.189.362/C536141 |C23.300.306/C536141

Synonyms:

Infantile Leukoencephalopathy and Megalencephaly |Leukoencephalopathy with Swelling and A Discrepantly Mild Course |Leukoencephalopathy with swelling and cysts |LVM |MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1 |Megalencephaly-cystic leukodyst

Slim Mappings:

Cancer|Genetic disease (inborn)|Metabolic disease|Nervous system disease|Pathology (anatomical condition)

Reference:

MedGen: C536141
MeSH: C536141
OMIM: 604004;

Genes: MLC1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0001251	Ataxia
4	HP:0006943	Diffuse spongiform leukoencephalopathy
5	HP:0007341	Diffuse swelling of cerebral white matter
6	HP:0001256	Intellectual disability, mild
7	HP:0000256	Macrocephaly
8	HP:0001355	Megalencephaly
9	HP:0001270	Motor delay
10	HP:0001250	Seizure
11	HP:0001257	Spasticity

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_015166.3(MLC1):c.1031A>G (p.Asn344Ser)	23209	MLC1	Benign;Likely benign	11568188	RCV000020711; RCV000117622;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478; MedGen:CN169374	22	50502491	50502491	NM_015166.3:c.1031A>G	NP_055981.1:p.Asn344Ser	NC_000022.10:g.50502491T>C	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1; CN169374 not specified
NM_015166.3(MLC1):c.925C>A (p.Leu309Met)	23209	MLC1	Benign	80358240	RCV000020716;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50502597	50502597	NM_015166.3:c.925C>A	NP_055981.1:p.Leu309Met	NC_000022.10:g.50502597G>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.839C>T (p.Ser280Leu)	23209	MLC1	Pathogenic	121908341	RCV000004978;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50506917	50506917	NM_015166.3:c.839C>T	NP_055981.1:p.Ser280Leu	NC_000022.10:g.50506917G>A	OMIM Allelic Variant:605908.0001	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.714+1G>A	23209	MLC1	Likely pathogenic	761620701	RCV000169359;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50512644	50512644	NM_015166.3:c.714+1G>A		NC_000022.10:g.50512644C>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.654C>A (p.Asn218Lys)	23209	MLC1	Benign;Likely benign	41302601	RCV000020715;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50512705	50512705	NM_015166.3:c.654C>A	NP_055981.1:p.Asn218Lys	NC_000022.10:g.50512705G>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.594_597delCTCA (p.Tyr198Terfs)	23209	MLC1	Pathogenic	267607236	RCV000004985;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50515270	50515273	NM_015166.3:c.594_597delCTCA	NP_055981.1:p.Tyr198Terfs	NC_000022.10:g.50515270_50515273delTGAG	OMIM Allelic Variant:605908.0008	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.512G>T (p.Cys171Phe)	23209	MLC1	Benign;Likely benign	6010260	RCV000020714; RCV000117624;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478; MedGen:CN169374	22	50515843	50515843	NM_015166.3:c.512G>T	NP_055981.1:p.Cys171Phe	NC_000022.10:g.50515843C>A	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1; CN169374 not specified
NM_015166.3(MLC1):c.298_423+108del	23209	MLC1	Pathogenic	-1	RCV000020713;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50518239	50518796	NM_015166.3:c.298_423+108del			dbVar:nssv3761554,dbVar:nsv1067881	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.423C>A (p.Asn141Lys)	23209	MLC1	Pathogenic	121908343	RCV000004982;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50518347	50518347	NM_015166.3:c.423C>A	NP_055981.1:p.Asn141Lys	NC_000022.10:g.50518347G>T	OMIM Allelic Variant:605908.0005	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.422A>G (p.Asn141Ser)	23209	MLC1	Pathogenic	121908344	RCV000004983;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50518348	50518348	NM_015166.3:c.422A>G	NP_055981.1:p.Asn141Ser	NC_000022.10:g.50518348T>C	OMIM Allelic Variant:605908.0006	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.324delT (p.Asn110Thrfs)	23209	MLC1	Likely pathogenic	786204747	RCV000169597;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50518446	50518446	NM_015166.3:c.324delT	NP_055981.1:p.Asn110Thrfs	NC_000022.10:g.50518446delA	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.278C>T (p.Ser93Leu)	23209	MLC1	Pathogenic	80358245	RCV000004979;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50518816	50518816	NM_015166.3:c.278C>T	NP_055981.1:p.Ser93Leu	NC_000022.10:g.50518816G>A	OMIM Allelic Variant:605908.0002	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.274C>T (p.Pro92Ser)	23209	MLC1	Pathogenic	121908345	RCV000004984;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50518820	50518820	NM_015166.3:c.274C>T	NP_055981.1:p.Pro92Ser	NC_000022.10:g.50518820G>A	OMIM Allelic Variant:605908.0007	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.223delG (p.Val75Cysfs)	23209	MLC1	Pathogenic	794729233	RCV000184054;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50521557	50521557	NM_015166.3:c.223delG	NP_055981.1:p.Val75Cysfs	NC_000022.10:g.50521557delC	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.206C>T (p.Ser69Leu)	23209	MLC1	Pathogenic	281875309	RCV000024319; RCV000059741;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478; MedGen:CN221809	22	50521574	50521574	NM_015166.3:c.206C>T	NP_055981.1:p.Ser69Leu	NC_000022.10:g.50521574G>A	OMIM Allelic Variant:605908.0013,UniProtKB (variants):VAR_067762	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1; CN221809 not provided
NM_015166.3(MLC1):c.178-10T>A	23209	MLC1	Pathogenic	80358243	RCV000020712;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50521612	50521612	NM_015166.3:c.178-10T>A		NC_000022.10:g.50521612A>T	-	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.176G>A (p.Gly59Glu)	23209	MLC1	Pathogenic	80358242	RCV000004986;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50523156	50523156	NM_015166.3:c.176G>A	NP_055981.1:p.Gly59Glu	NC_000022.10:g.50523156C>T	OMIM Allelic Variant:605908.0009	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1
NM_015166.3(MLC1):c.135dupC (p.Cys46Leufs)	23209	MLC1	Pathogenic	80358241	RCV000004987;	N	MedGen:C1858854,OMIM:604004,ORPHA:2478	22	50523197	50523197	NM_015166.3:c.135dupC	NP_055981.1:p.Cys46Leufs	NC_000022.10:g.50523197dupG	OMIM Allelic Variant:605908.0011	C1858854 604004 Megalencephalic leukoencephalopathy with subcortical cysts 1