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: Genetic Diseases, X-Linked (D040181)
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
..Starting node ..Pelizaeus-Merzbacher Disease (D020371)
Child Nodes:
........Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant (C566813)
Sister Nodes:
..Adrenoleukodystrophy (D000326) 4
..Alexander Disease (D038261) 1
..Canavan Disease (D017825)
..Dysmyelination With Jaundice (C565610)
..Hypomyelination, Global Cerebral (C567847) L: 00107;
..Leukodystrophy, Dysmyelinating, with Oligodontia (C564344)
..Leukodystrophy, Globoid Cell (D007965) 1
..LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
..LEUKODYSTROPHY, HYPOMYELINATING, 11 (OMIM:616494)
..LEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
..LEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
..Leukodystrophy, Hypomyelinating, 2 (C563855)
..LEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
..Leukodystrophy, Hypomyelinating, 4 (C567390) L: 00421;
..Leukodystrophy, Hypomyelinating, 5 (C567166)
..Leukodystrophy, Hypomyelinating, 6 (C567314)
..LEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
..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,ClinVar, CTD

Term ID:

9642

Name:

Pelizaeus-Merzbacher Disease

Definition:

A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)

Alternative IDs:

DO:DOID:3210|OMIM:169500|OMIM:312080

ParentIDs:

MESH:D020279|MESH:D040181

TreeNumbers:

C10.228.140.163.100.362.775 |C10.228.140.695.625.775 |C10.314.400.775 |C16.320.322.906 |C16.320.565.189.362.775 |C18.452.132.100.362.775 |C18.452.648.189.362.775

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D020371
MeSH: D020371
OMIM: 169500;
MSeqDR :
Genes: LMNB1; PLP1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0005341	Autonomic bladder dysfunction
3	HP:0008652	Autonomic erectile dysfunction
4	HP:0007480	Decreased sweating due to autonomic dysfunction
5	HP:0004926	Orthostatic hypotension due to autonomic dysfunction
6	HP:0003581	Adult onset
7	HP:0000079	Abnormality of the urinary system
8	HP:0001251	Ataxia
9	HP:0003487	Babinski sign
10	HP:0007371	Corpus callosum atrophy
11	HP:0000716	Depressivity NAMDC: Depression
12	HP:0006994	Diffuse leukoencephalopathy
13	HP:0002171	Gliosis
14	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
15	HP:0000802	Impotence
16	HP:0002415	Leukodystrophy
17	HP:0000639	Nystagmus
18	HP:0000751	Personality changes
19	HP:0003676	Progressive
20	HP:0002344	Progressive neurologic deterioration
21	HP:0007024	Pseudobulbar paralysis
22	HP:0001257	Spasticity NAMDC: Spasticity
23	HP:0007262	Symmetric peripheral demyelination

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_005573.4(LMNB1):c.-314C>T	4001	LMNB1	Benign	rs561989552	RCV000263750;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126112887	126112887	NC_000005.9:g.126112887C>T	ClinGen:CA10618905	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.-298G>T	4001	LMNB1	Benign	rs111865788	RCV000316347;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126112903	126112903	NC_000005.9:g.126112903G>T	ClinGen:CA10622452	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.-159C>G	4001	LMNB1	Uncertain significance	rs886059857	RCV000373329;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126113042	126113042	NC_000005.9:g.126113042C>G	ClinGen:CA10622464	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.-76G>T	4001	LMNB1	Uncertain significance	rs1371898314	RCV001155358;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126113125	126113125	5:g.126113125G>T	-
NM_005573.4(LMNB1):c.60G>A (p.Thr20=)	4001	LMNB1	Benign	rs755396585	RCV001155359\|RCV002070906;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN517202	5	126113260	126113260	5:g.126113260G>A	-
NM_005573.4(LMNB1):c.141C>T (p.Ile47=)	4001	LMNB1	Benign	rs755177047	RCV000295130\|RCV002058505;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN517202	5	126113341	126113341	NC_000005.9:g.126113341C>T	ClinGen:CA3390419	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.279C>T (p.Leu93=)	4001	LMNB1	Benign	rs74362780	RCV000333700\|RCV000970700;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN517202	5	126113479	126113479	NC_000005.9:g.126113479C>T	ClinGen:CA3390432	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.360-19C>T	4001	LMNB1	Benign/Likely benign	-1	RCV001522968\|RCV002501846;	N	MedGen:CN517202\|MONDO:MONDO:0030928,MedGen:C5543048,OMIM:619179; MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126140449	126140449	126140449	-
NM_005573.4(LMNB1):c.360-8T>C	4001	LMNB1	Uncertain significance	rs376081850	RCV001334424;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126140460	126140460	126140460	-
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp)	4001	LMNB1	Uncertain significance	rs1205547665	RCV001198634;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126140519	126140519	5:g.126140519A>T	-
NM_005573.4(LMNB1):c.414T>C (p.Tyr138=)	4001	LMNB1	Benign	rs3749830	RCV000057048\|RCV000386109;	N	MedGen:CN517202\|MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126140522	126140522	5:g.126140522T>C	ClinGen:CA217399	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.432G>A (p.Ser144=)	4001	LMNB1	Benign	rs34224885	RCV000117493\|RCV000294151\|RCV001512219;	N	MedGen:CN169374\|MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN517202	5	126140540	126140540	NC_000005.9:g.126140540G>A	ClinGen:CA153531	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.642+10T>C	4001	LMNB1	Benign/Likely benign	rs200907573	RCV000346610\|RCV000963162;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN517202	5	126141398	126141398	NC_000005.9:g.126141398T>C	ClinGen:CA3390506	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.672A>G (p.Glu224=)	4001	LMNB1	Likely benign	rs372510778	RCV000384885;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126145901	126145901	NC_000005.9:g.126145901A>G	ClinGen:CA3390528	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys)	4001	LMNB1	Conflicting interpretations of pathogenicity	rs142016804	RCV000791125\|RCV001795969;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN517202	5	126145905	126145905	NC_000005.9:g.126145905C>T	ClinGen:CA3390531	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys)	4001	LMNB1	Benign	rs771251880	RCV001157047;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126145929	126145929	5:g.126145929C>T	-
NM_005573.4(LMNB1):c.775C>T (p.Leu259=)	4001	LMNB1	Uncertain significance	rs575662572	RCV001157048;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126146004	126146004	5:g.126146004C>T	-
NM_005573.4(LMNB1):c.852T>C (p.Ser284=)	4001	LMNB1	Benign	rs61726489	RCV000057049\|RCV000345073;	N	MedGen:CN517202\|MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126147503	126147503	5:g.126147503T>C	ClinGen:CA217401	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala)	4001	LMNB1	Uncertain significance	rs374998378	RCV001157049;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126147504	126147504	5:g.126147504A>G	-
NM_005573.4(LMNB1):c.889C>T (p.Arg297Cys)	4001	LMNB1	Uncertain significance	-1	RCV002466949;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126147540	126147540	NC_000005.9:g.126147540C>T	-
NM_005573.4(LMNB1):c.987T>C (p.Ala329=)	4001	LMNB1	Uncertain significance	rs1751792373	RCV001157050;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126154661	126154661	5:g.126154661T>C	-
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His)	4001	LMNB1	Uncertain significance	rs994236399	RCV001157051;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126154684	126154684	5:g.126154684G>A	-
NM_005573.4(LMNB1):c.1023C>T (p.Asp341=)	4001	LMNB1	Benign	rs886059858	RCV000395495\|RCV002058506;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN517202	5	126154697	126154697	NC_000005.9:g.126154697C>T	ClinGen:CA3390618	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.1161-6A>G	4001	LMNB1	Uncertain significance	rs765920630	RCV001253965;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126156596	126156596	5:g.126156596A>G	-
NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn)	4001	LMNB1	Benign	rs150504258	RCV001253966;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126156619	126156619	5:g.126156619G>A	-
NM_005573.4(LMNB1):c.1190G>A (p.Arg397His)	4001	LMNB1	Likely benign	rs746416284	RCV000305501;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126156631	126156631	NC_000005.9:g.126156631G>A	ClinGen:CA3390666	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.1387-3T>C	4001	LMNB1	Uncertain significance	rs886059859	RCV000339403;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126158470	126158470	NC_000005.9:g.126158470T>C	ClinGen:CA10620020	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.1492-11G>T	4001	LMNB1	Benign	rs201050320	RCV000395587\|RCV002058507;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN517202	5	126161669	126161669	NC_000005.9:g.126161669G>T	ClinGen:CA3390736	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val)	4001	LMNB1	Benign	rs36105360	RCV000057047\|RCV000299258\|RCV001795046;	N	MedGen:CN517202\|MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN169374	5	126161690	126161690	5:g.126161690C>T	ClinGen:CA217397,UniProtKB:P20700#VAR_031646	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.1560G>A (p.Ser520=)	4001	LMNB1	Benign	rs6875053	RCV000356354\|RCV001520837;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN517202	5	126161748	126161748	NC_000005.9:g.126161748G>A	ClinGen:CA3390755	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*15T>C	4001	LMNB1	Benign	rs140296800	RCV000259722;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126171971	126171971	NC_000005.9:g.126171971T>C	ClinGen:CA3390814	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*18C>T	4001	LMNB1	Benign	rs2230151	RCV000057046\|RCV000298597;	N	MedGen:CN517202\|MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126171974	126171974	5:g.126171974C>T	ClinGen:CA217396	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*43T>C	4001	LMNB1	Benign	rs1051643	RCV000369546\|RCV001683395;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN517202	5	126171999	126171999	NC_000005.9:g.126171999T>C	ClinGen:CA3390817	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*54A>T	4001	LMNB1	Conflicting interpretations of pathogenicity	rs370551700	RCV001154643\|RCV002264206;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN517202	5	126172010	126172010	5:g.126172010A>T	-
NM_005573.4(LMNB1):c.*189T>G	4001	LMNB1	Uncertain significance	rs1752249694	RCV001154644;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126172145	126172145	5:g.126172145T>G	-
NM_005573.4(LMNB1):c.*239C>T	4001	LMNB1	Benign	rs1051644	RCV000277393;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126172195	126172195	NC_000005.9:g.126172195C>T	ClinGen:CA10622470	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*270T>C	4001	LMNB1	Uncertain significance	rs1021872186	RCV001154645;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126172226	126172226	5:g.126172226T>C	-
NM_005573.4(LMNB1):c.*284T>G	4001	LMNB1	Conflicting interpretations of pathogenicity	rs550205958	RCV001154646\|RCV002512139;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027\|MedGen:CN517202	5	126172240	126172240	5:g.126172240T>G	-
NM_005573.4(LMNB1):c.*301T>C	4001	LMNB1	Uncertain significance	rs960666703	RCV001155478;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126172257	126172257	5:g.126172257T>C	-
NM_005573.4(LMNB1):c.*503A>T	4001	LMNB1	Benign	rs181936031	RCV000329948;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126172459	126172459	NC_000005.9:g.126172459A>T	ClinGen:CA10622361	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*518T>C	4001	LMNB1	Benign	rs185784874	RCV000386736;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126172474	126172474	NC_000005.9:g.126172474T>C	ClinGen:CA10620026	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*629G>A	4001	LMNB1	Uncertain significance	rs761208282	RCV000271365;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126172585	126172585	NC_000005.9:g.126172585G>A	ClinGen:CA10620027	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*629G>C	4001	LMNB1	Uncertain significance	rs761208282	RCV000328799;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126172585	126172585	NC_000005.9:g.126172585G>C	ClinGen:CA10622473	CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*631G>A	4001	LMNB1	Uncertain significance	rs569902214	RCV001155479;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126172587	126172587	5:g.126172587G>A	-
NM_005573.4(LMNB1):c.*634A>G	4001	LMNB1	Uncertain significance	rs1382551348	RCV001155480;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126172590	126172590	5:g.126172590A>G	-
NM_005573.4(LMNB1):c.*640G>A	4001	LMNB1	Uncertain significance	rs1294635743	RCV001155481;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126172596	126172596	5:g.126172596G>A	-
NM_005573.4(LMNB1):c.*691A>G	4001	LMNB1	Benign	rs77429268	RCV000382569;	N	MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027	5	126172647	126172647	NC_000005.9:g.126172647A>G	ClinGen:CA10620028	CN239186 Leukodystrophy, Adult-Onset;

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