MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Leukoencephalopathies (D056784)
..Starting node ..Hereditary Diffuse Leukoencephalopathy with Spheroids (C580150)
Child Nodes:
Sister Nodes:
..Ataxia, Spastic, 3, Autosomal Recessive (C566956)
..Brain Small Vessel Disease with Hemorrhage (C564372)
..Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (C563990)
..Cerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..Dementia, Vascular (D015140) 3
..Demyelinating Autoimmune Diseases, CNS (D020278) 15 C:1
..ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY (OMIM:617186)
..Hereditary Central Nervous System Demyelinating Diseases (D020279) 29 C:2
..Hereditary Diffuse Leukoencephalopathy with Spheroids (C580150)
..HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (OMIM:615281)
..KOSAKI OVERGROWTH SYNDROME (OMIM:616592)
..LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA (OMIM:616763)
..Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism (C567313)
..Leukoencephalopathy Brain Calcifications and Cysts (C000598644)
..LEUKOENCEPHALOPATHY WITH ATAXIA (OMIM:615651)
..Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation (C567009) L: 00418;
..LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema (C563852)
..Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (C535888)
..Leukoencephalopathy, Cystic, Without Megalencephaly (C567845)
..Leukoencephalopathy, Progressive Multifocal (D007968)
..LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889) L: 00638;
..Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..Posterior Leukoencephalopathy Syndrome (D054038)
..Ribose 5-Phosphate Isomerase Deficiency (C563212)
..Telencephalic leukoencephalopathy (C536954)
..Vanishing White Matter Leukodystrophy with Ovarian Failure (C565836)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

5578

Name:

Hereditary Diffuse Leukoencephalopathy with Spheroids

Definition:

Alternative IDs:

OMIM:221820

ParentIDs:

MESH:D056784

TreeNumbers:

C10.228.140.695/C580150

Synonyms:

Slim Mappings:

Nervous system disease

Reference:

MedGen: C580150
MeSH: C580150
OMIM: 221820;
MSeqDR :
Genes: CSF1R; SCN4A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0002500	Abnormality of the cerebral white matter
4	HP:0002186	Apraxia
5	HP:0002067	Bradykinesia
6	HP:0007305	CNS demyelination
7	HP:0000716	Depressivity NAMDC: Depression
8	HP:0000727	Frontal lobe dementia
9	HP:0002171	Gliosis
10	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
11	HP:0002352	Leukoencephalopathy
12	HP:0002354	Memory impairment
13	HP:0002300	Mutism
14	HP:0002529	Neuronal loss in central nervous system
15	HP:0002172	Postural instability
16	HP:0003678	Rapidly progressive
17	HP:0002063	Rigidity
18	HP:0002362	Shuffling gait
19	HP:0001257	Spasticity NAMDC: Spasticity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His)	1436	CSF1R	Pathogenic/Likely pathogenic	-1	RCV000031932\|RCV001561353\|RCV002482936;	N	MONDO:MONDO:0030796,MedGen:C3711381,OMIM:PS221820, Orphanet:313808\|MedGen:CN517202\|MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820, Orphanet:313808; MONDO:MONDO:0032772,MedGen:C5193117,OMIM:618476	5	149435879	149435879	5:g.149435879C>T	ClinGen:CA343014,OMIM:164770.0009	C3711381 221820 Hereditary diffuse leukoencephalopathy with spheroids;
NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys)	1436	CSF1R	Likely pathogenic	-1	RCV001724744\|RCV002290740\|RCV002539735;	N	MONDO:MONDO:0030796,MedGen:C3711381,OMIM:PS221820, Orphanet:313808\|MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820, Orphanet:313808\|MedGen:CN517202	5	149435880	149435880	149435880	-
NM_001288705.3(CSF1R):c.2221G>A (p.Asp741Asn)	1436	CSF1R	Pathogenic	-1	RCV002288456;	N	MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820, Orphanet:313808	5	149437067	149437067	149437067	-
NM_001288705.3(CSF1R):c.2179A>G (p.Arg727Gly)	1436	CSF1R	Uncertain significance	-1	RCV001867588\|RCV002272513;	N	MedGen:CN517202\|MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820, Orphanet:313808	5	149437109	149437109	149437109	-
NM_001288705.3(CSF1R):c.2073G>C (p.Gln691His)	1436	CSF1R	Conflicting interpretations of pathogenicity	-1	RCV001914442\|RCV002484551;	N	MedGen:CN517202\|MONDO:MONDO:0032772,MedGen:C5193117,OMIM:618476; MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820, Orphanet:313808	5	149439322	149439322	149439322	-
NM_001288705.3(CSF1R):c.1961C>A (p.Thr654Asn)	1436	CSF1R	Conflicting interpretations of pathogenicity	-1	RCV002040804\|RCV002468654;	N	MedGen:CN517202\|MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820, Orphanet:313808	5	149440433	149440433	149440433	-
NM_001288705.3(CSF1R):c.1938C>T (p.Ile646=)	1436	CSF1R	Benign/Likely benign	-1	RCV002092059\|RCV002498094;	N	MedGen:CN517202\|MONDO:MONDO:0032772,MedGen:C5193117,OMIM:618476; MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820, Orphanet:313808	5	149440456	149440456	149440456	-
NM_001288705.3(CSF1R):c.1929C>T (p.His643=)	1436	CSF1R	Benign	rs184499252	RCV000259350\|RCV000906141\|RCV002504163;	N	MONDO:MONDO:0030796,MedGen:C3711381,OMIM:PS221820, Orphanet:313808\|MedGen:CN517202\|MONDO:MONDO:0032772,MedGen:C5193117,OMIM:618476; MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820, Orphanet:313808	5	149440465	149440465	5:g.149440465G>A	ClinGen:CA3506636	C3711381 221820 Hereditary diffuse leukoencephalopathy with spheroids;
NM_001288705.3(CSF1R):c.1649G>A (p.Trp550Ter)	1436	CSF1R	Conflicting interpretations of pathogenicity	rs1757544635	RCV001268354\|RCV002293254;	N	MedGen:CN517202\|MONDO:MONDO:0032772,MedGen:C5193117,OMIM:618476; MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820, Orphanet:313808	5	149441390	149441390	5:g.149441390C>T	-
NM_001288705.3(CSF1R):c.1510+16C>T	1436	CSF1R	Benign	-1	RCV001795679\|RCV002478026;	N	MedGen:CN517202\|MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820, Orphanet:313808; MONDO:MONDO:0032772,MedGen:C5193117,OMIM:618476	5	149449420	149449420	149449420	-
NM_001288705.3(CSF1R):c.656C>A (p.Ala219Asp)	1436	CSF1R	Uncertain significance	-1	RCV001959331\|RCV002497904;	N	MedGen:CN517202\|MONDO:MONDO:0032772,MedGen:C5193117,OMIM:618476; MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820, Orphanet:313808	5	149457748	149457748	149457748	-
NM_001288705.3(CSF1R):c.192C>T (p.Gly64=)	1436	CSF1R	Benign	rs56282370	RCV000404408\|RCV000899774\|RCV002488775;	N	MONDO:MONDO:0030796,MedGen:C3711381,OMIM:PS221820, Orphanet:313808\|MedGen:CN517202\|MONDO:MONDO:0032772,MedGen:C5193117,OMIM:618476; MONDO:MONDO:0800027,MedGen:C5561929,OMIM:221820, Orphanet:313808	5	149460445	149460445	NC_000005.9:g.149460445G>A	ClinGen:CA3507257	C3711381 221820 Hereditary diffuse leukoencephalopathy with spheroids;

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