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:
expand
Genetic Diseases, X-Linked (D040181)
Parent Node:
expand
Hereditary Central Nervous System Demyelinating Diseases (D020279)
..Starting node
..expand
Pelizaeus-Merzbacher Disease (D020371)

       Child Nodes:
........expandLeukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant (C566813)



 Sister Nodes: 
..expandAdrenoleukodystrophy (D000326) Child4
..expandAlexander Disease (D038261) Child1
..expandCanavan Disease (D017825)
..expandDysmyelination With Jaundice (C565610)
..expandHypomyelination, Global Cerebral (C567847)  LSDB  L: 00107;
..expandLeukodystrophy, Dysmyelinating, with Oligodontia (C564344)
..expandLeukodystrophy, Globoid Cell (D007965) Child1
..expandLEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
..expandLEUKODYSTROPHY, HYPOMYELINATING, 11 (OMIM:616494)
..expandLEUKODYSTROPHY, HYPOMYELINATING, 12 (OMIM:616683)
..expandLEUKODYSTROPHY, HYPOMYELINATING, 13 (OMIM:616881)
..expandLeukodystrophy, Hypomyelinating, 2 (C563855)
..expandLEUKODYSTROPHY, HYPOMYELINATING, 3 (OMIM:260600)
..expandLeukodystrophy, Hypomyelinating, 4 (C567390)  LSDB  L: 00421;
..expandLeukodystrophy, Hypomyelinating, 5 (C567166)
..expandLeukodystrophy, Hypomyelinating, 6 (C567314)
..expandLEUKODYSTROPHY, HYPOMYELINATING, 9 (OMIM:616140)
..expandLeukodystrophy, Metachromatic (D007966) Child5
..expandMegalencephalic leukoencephalopathy with subcortical cysts (C536141)
..expandMegalencephaly with Dysmyelination (C565408)
..expandOptic Atrophy with Demyelinating Disease of CNS (C563496)
..expandPelizaeus-Merzbacher Disease (D020371) Child1
..expandVasculopathy, 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:ADLD |Adult Pelizaeus Merzbacher Disease |Adult Pelizaeus-Merzbacher Disease |Atypical Pelizaeus Merzbacher Disease |Atypical Pelizaeus-Merzbacher Disease |Brain Pelizaeus-Merzbacher Sclerosis |Brain Sclerosis, Pelizaeus-Merzbacher |Classic Pelizaeus Merzbacher
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D020371
MeSH: D020371
OMIM: 169500;
MSeqDR LSDB:  
Genes: LMNB1; PLP1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0005341Autonomic bladder dysfunction
3 HP:0008652Autonomic erectile dysfunction
4 HP:0007480Decreased sweating due to autonomic dysfunction
5 HP:0004926Orthostatic hypotension due to autonomic dysfunction
6 HP:0003581Adult onset
7 HP:0000079Abnormality of the urinary system
8 HP:0001251Ataxia
9 HP:0003487Babinski sign
10 HP:0007371Corpus callosum atrophy
11 HP:0000716Depressivity
NAMDC:  Depression
12 HP:0006994Diffuse leukoencephalopathy
13 HP:0002171Gliosis
14 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
15 HP:0000802Impotence
16 HP:0002415Leukodystrophy
17 HP:0000639Nystagmus
18 HP:0000751Personality changes
19 HP:0003676Progressive
20 HP:0002344Progressive neurologic deterioration
21 HP:0007024Pseudobulbar paralysis
22 HP:0001257Spasticity
NAMDC:  Spasticity
23 HP:0007262Symmetric peripheral demyelination
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_005573.4(LMNB1):c.-314C>T4001LMNB1Benignrs561989552RCV000263750; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126112887126112887CTNC_000005.9:g.126112887C>TClinGen:CA10618905CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.-298G>T4001LMNB1Benignrs111865788RCV000316347; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126112903126112903GTNC_000005.9:g.126112903G>TClinGen:CA10622452CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.-159C>G4001LMNB1Uncertain significancers886059857RCV000373329; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126113042126113042CGNC_000005.9:g.126113042C>GClinGen:CA10622464CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.-76G>T4001LMNB1Uncertain significancers1371898314RCV001155358; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126113125126113125GT5:g.126113125G>T-
NM_005573.4(LMNB1):c.60G>A (p.Thr20=)4001LMNB1Benignrs755396585RCV001155359|RCV002070906; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027|MedGen:CN5172025126113260126113260GA5:g.126113260G>A-
NM_005573.4(LMNB1):c.141C>T (p.Ile47=)4001LMNB1Benignrs755177047RCV000295130|RCV002058505; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027|MedGen:CN5172025126113341126113341CTNC_000005.9:g.126113341C>TClinGen:CA3390419CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.279C>T (p.Leu93=)4001LMNB1Benignrs74362780RCV000333700|RCV000970700; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027|MedGen:CN5172025126113479126113479CTNC_000005.9:g.126113479C>TClinGen:CA3390432CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.360-8T>C4001LMNB1Uncertain significancers376081850RCV001334424; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126140460126140460TC126140460-
NM_005573.4(LMNB1):c.411A>T (p.Glu137Asp)4001LMNB1Uncertain significancers1205547665RCV001198634; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126140519126140519AT5:g.126140519A>T-
NM_005573.4(LMNB1):c.414T>C (p.Tyr138=)4001LMNB1Benignrs3749830RCV000057048|RCV000386109; NMedGen:CN517202|MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126140522126140522TC5:g.126140522T>CClinGen:CA217399CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.432G>A (p.Ser144=)4001LMNB1Benignrs34224885RCV000117493|RCV000294151|RCV001512219; NMedGen:CN169374|MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027|MedGen:CN5172025126140540126140540GANC_000005.9:g.126140540G>AClinGen:CA153531CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.642+10T>C4001LMNB1Benign/Likely benignrs200907573RCV000346610|RCV000963162; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027|MedGen:CN5172025126141398126141398TCNC_000005.9:g.126141398T>CClinGen:CA3390506CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.672A>G (p.Glu224=)4001LMNB1Likely benignrs372510778RCV000384885; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126145901126145901AGNC_000005.9:g.126145901A>GClinGen:CA3390528CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys)4001LMNB1Conflicting interpretations of pathogenicityrs142016804RCV000791125|RCV001795969; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027|MedGen:CN5172025126145905126145905CTNC_000005.9:g.126145905C>TClinGen:CA3390531CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.700C>T (p.Arg234Cys)4001LMNB1Benignrs771251880RCV001157047; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126145929126145929CT5:g.126145929C>T-
NM_005573.4(LMNB1):c.775C>T (p.Leu259=)4001LMNB1Uncertain significancers575662572RCV001157048; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126146004126146004CT5:g.126146004C>T-
NM_005573.4(LMNB1):c.852T>C (p.Ser284=)4001LMNB1Benignrs61726489RCV000057049|RCV000345073; NMedGen:CN517202|MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126147503126147503TC5:g.126147503T>CClinGen:CA217401CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.853A>G (p.Thr285Ala)4001LMNB1Uncertain significancers374998378RCV001157049; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126147504126147504AG5:g.126147504A>G-
NM_005573.4(LMNB1):c.987T>C (p.Ala329=)4001LMNB1Uncertain significancers1751792373RCV001157050; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126154661126154661TC5:g.126154661T>C-
NM_005573.4(LMNB1):c.1010G>A (p.Arg337His)4001LMNB1Uncertain significancers994236399RCV001157051; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126154684126154684GA5:g.126154684G>A-
NM_005573.4(LMNB1):c.1023C>T (p.Asp341=)4001LMNB1Benignrs886059858RCV000395495|RCV002058506; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027|MedGen:CN5172025126154697126154697CTNC_000005.9:g.126154697C>TClinGen:CA3390618CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.1161-6A>G4001LMNB1Uncertain significancers765920630RCV001253965; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126156596126156596AG5:g.126156596A>G-
NM_005573.4(LMNB1):c.1178G>A (p.Ser393Asn)4001LMNB1Benignrs150504258RCV001253966; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126156619126156619GA5:g.126156619G>A-
NM_005573.4(LMNB1):c.1190G>A (p.Arg397His)4001LMNB1Likely benignrs746416284RCV000305501; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126156631126156631GANC_000005.9:g.126156631G>AClinGen:CA3390666CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.1387-3T>C4001LMNB1Uncertain significancers886059859RCV000339403; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126158470126158470TCNC_000005.9:g.126158470T>CClinGen:CA10620020CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.1492-11G>T4001LMNB1Benignrs201050320RCV000395587|RCV002058507; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027|MedGen:CN5172025126161669126161669GTNC_000005.9:g.126161669G>TClinGen:CA3390736CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val)4001LMNB1Benignrs36105360RCV000057047|RCV000299258|RCV001795046; NMedGen:CN517202|MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027|MedGen:CN1693745126161690126161690CT5:g.126161690C>TClinGen:CA217397,UniProtKB:P20700#VAR_031646CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.1560G>A (p.Ser520=)4001LMNB1Benignrs6875053RCV000356354|RCV001520837; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027|MedGen:CN5172025126161748126161748GANC_000005.9:g.126161748G>AClinGen:CA3390755CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*15T>C4001LMNB1Benignrs140296800RCV000259722; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126171971126171971TCNC_000005.9:g.126171971T>CClinGen:CA3390814CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*18C>T4001LMNB1Benignrs2230151RCV000057046|RCV000298597; NMedGen:CN517202|MONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126171974126171974CT5:g.126171974C>TClinGen:CA217396CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*43T>C4001LMNB1Benignrs1051643RCV000369546|RCV001683395; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:99027|MedGen:CN5172025126171999126171999TCNC_000005.9:g.126171999T>CClinGen:CA3390817CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*54A>T4001LMNB1Uncertain significancers370551700RCV001154643; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172010126172010AT5:g.126172010A>T-
NM_005573.4(LMNB1):c.*189T>G4001LMNB1Uncertain significancers1752249694RCV001154644; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172145126172145TG5:g.126172145T>G-
NM_005573.4(LMNB1):c.*239C>T4001LMNB1Benignrs1051644RCV000277393; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172195126172195CTNC_000005.9:g.126172195C>TClinGen:CA10622470CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*270T>C4001LMNB1Uncertain significancers1021872186RCV001154645; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172226126172226TC5:g.126172226T>C-
NM_005573.4(LMNB1):c.*284T>G4001LMNB1Uncertain significancers550205958RCV001154646; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172240126172240TG5:g.126172240T>G-
NM_005573.4(LMNB1):c.*301T>C4001LMNB1Uncertain significancers960666703RCV001155478; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172257126172257TC5:g.126172257T>C-
NM_005573.4(LMNB1):c.*503A>T4001LMNB1Benignrs181936031RCV000329948; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172459126172459ATNC_000005.9:g.126172459A>TClinGen:CA10622361CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*518T>C4001LMNB1Benignrs185784874RCV000386736; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172474126172474TCNC_000005.9:g.126172474T>CClinGen:CA10620026CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*629G>A4001LMNB1Uncertain significancers761208282RCV000271365; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172585126172585GANC_000005.9:g.126172585G>AClinGen:CA10620027CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*629G>C4001LMNB1Uncertain significancers761208282RCV000328799; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172585126172585GCNC_000005.9:g.126172585G>CClinGen:CA10622473CN239186 Leukodystrophy, Adult-Onset;
NM_005573.4(LMNB1):c.*631G>A4001LMNB1Uncertain significancers569902214RCV001155479; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172587126172587GA5:g.126172587G>A-
NM_005573.4(LMNB1):c.*634A>G4001LMNB1Uncertain significancers1382551348RCV001155480; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172590126172590AG5:g.126172590A>G-
NM_005573.4(LMNB1):c.*640G>A4001LMNB1Uncertain significancers1294635743RCV001155481; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172596126172596GA5:g.126172596G>A-
NM_005573.4(LMNB1):c.*691A>G4001LMNB1Benignrs77429268RCV000382569; NMONDO:MONDO:0008215,MedGen:C1868512,OMIM:169500, Orphanet:990275126172647126172647AGNC_000005.9:g.126172647A>GClinGen:CA10620028CN239186 Leukodystrophy, Adult-Onset;
MSeqDR Portal