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
Term ID:7108
Name:Lissencephaly
Definition:A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
Alternative IDs:DO:DOID:0050453|OMIM:607432|OMIM:614019|OMIM:615191|OMIM:617255
ParentIDs:MESH:D054081
TreeNumbers:C10.500.507.450.499 |C16.131.666.507.450.499
Synonyms:Agyria |Agyrias |Broad Gyri of Cerebrum |ILS |Large Gyri of Cerebrum |LIS1 |LIS4 |LIS5 |LIS8 |Lissencephalia |Lissencephalies |LISSENCEPHALY 1 |LISSENCEPHALY 4 |LISSENCEPHALY 4 WITH MICROCEPHALY |LISSENCEPHALY 5 |LISSENCEPHALY 8 |LISSENCEPHALY, CLASSIC SUBCORTICAL LAMIN
Slim Mappings:Congenital abnormality|Nervous system disease
Reference: MedGen: D054082
MeSH: D054082
OMIM: 607432;
MSeqDR LSDB:  
Genes: LAMB1; NDE1; PAFAH1B1;
Phenotypes
1 HP:0002500Abnormality of the cerebral white matter
2 HP:0001321Cerebellar hypoplasia
3 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
4 HP:0001263Global developmental delay
NAMDC:  Mental retardation
5 HP:0002282Heterotopia
6 HP:0002365Hypoplasia of the brainstem
7 HP:0001249Intellectual disability
8 HP:0008936Muscular hypotonia of the trunk
9 HP:0001302Pachygyria
10 HP:0005484Postnatal microcephaly
11 HP:0001250Seizures
NAMDC:  Seizures
12 HP:0001285Spastic tetraparesis
13 HP:0003745Sporadic
14 HP:0003828Variable expressivity
15 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000017.10:g.(?_2541532)_(2541639_?)del5048PAFAH1B1Likely pathogenic-1RCV000585819; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA1020091725415322541639-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)5048PAFAH1B1Pathogenicrs121434489RCV000008549; RCV000008548; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009; MedGen:C1848201, Orphanet:ORPHA99796172541604254160417:g.2541604C>TOMIM Allelic Variant:601545.0009C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.71_72dup (p.Glu25fs)5048PAFAH1B1Pathogenicrs797045866RCV000194082; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172568702256870317:g.2568702_2568703insTA-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.92T>C (p.Phe31Ser)5048PAFAH1B1Pathogenicrs121434486RCV000008545; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172568725256872517:g.2568725T>COMIM Allelic Variant:601545.0006,UniProtKB (protein):P43034#VAR_015398C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.118-11_118-7del5048PAFAH1B1Uncertain significancers1555526298RCV000656496; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172569296256930017:g.2569296_2569300del-
NM_000430.4(PAFAH1B1):c.177del (p.Arg60fs)5048PAFAH1B1Pathogenicrs1555526309RCV000677424; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172569368256936817:g.2569368_2569368del-
NM_000430.4(PAFAH1B1):c.190_192+5dup5048PAFAH1B1Pathogenicrs797045857RCV000192347; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172569381256938217:g.2569381_2569382insAAGGTAAC-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.288_289dup (p.Arg97fs)5048PAFAH1B1Pathogenicrs797045858RCV000193550; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172570378257037917:g.2570378_2570379insCC-
NM_000430.4(PAFAH1B1):c.347dup (p.His117fs)5048PAFAH1B1Pathogenicrs797045859RCV000192650; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172570436257043717:g.2570436_2570437insT-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs)5048PAFAH1B1Pathogenicrs797045861RCV000194728; RCV000481949; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009; MedGen:CN517202172573495257349617:g.2573495_2573496insA-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.446A>G (p.His149Arg)5048PAFAH1B1Pathogenicrs121434482RCV000008540; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172573503257350317:g.2573503A>GOMIM Allelic Variant:601545.0001,UniProtKB (protein):P43034#VAR_007724C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser)5048PAFAH1B1Pathogenicrs121434487RCV000008546; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172573541257354117:g.2573541G>AOMIM Allelic Variant:601545.0007,UniProtKB (protein):P43034#VAR_015399C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.514dup (p.Met172fs)5048PAFAH1B1Pathogenicrs1555526718RCV000502531; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172573570257357117:g.2573570_2573571insA-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.523A>T (p.Lys175Ter)5048PAFAH1B1Pathogenicrs797045061RCV000191116; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172573580257358017:g.2573580A>T-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.537dup (p.Gln180fs)5048PAFAH1B1Pathogenicrs587784271RCV000192553; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172573590257359117:g.2573590_2573591insT-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.568+1G>A5048PAFAH1B1Pathogenicrs1555526733RCV000504157; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172573626257362617:g.2573626G>A-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.569-3del5048PAFAH1B1Likely pathogenicrs797045863RCV000193791; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172575943257594317:g.2575943_2575943del-
NM_000430.4(PAFAH1B1):c.667dup (p.Thr223fs)5048PAFAH1B1Pathogenicrs797045864RCV000194642; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172576044257604517:g.2576044_2576045insA-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.701_702GA[1] (p.Glu235fs)5048PAFAH1B1Pathogenicrs797045865RCV000623963; RCV000192866; RCV000599007; NMeSH:D030342,MedGen:C0950123; MedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009; MedGen:CN517202172577382257738317:g.2577382_2577383del-
NM_000430.4(PAFAH1B1):c.728_732dup (p.Asp245fs)5048PAFAH1B1Pathogenicrs797045867RCV000194563; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172577406257740717:g.2577406_2577407insCAAAT-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.770_772delinsTGACCCA (p.Thr257fs)5048PAFAH1B1Pathogenicrs797045868RCV000192780; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172577452257745417:g.2577452_2577453insGACCCA-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.771_772TG[1] (p.Val258fs)5048PAFAH1B1Pathogenicrs797045869RCV000194019; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172577453257745417:g.2577453_2577454del-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter)5048PAFAH1B1Pathogenicrs121434483RCV000008541; RCV000255710; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009; MedGen:CN517202172577499257749917:g.2577499C>TOMIM Allelic Variant:601545.0002C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.818G>A (p.Arg273Gln)5048PAFAH1B1Likely pathogenicrs794729199RCV000184018; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172577500257750017:g.2577500G>A-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.829dup (p.His277fs)5048PAFAH1B1Pathogenicrs797045870RCV000195211; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172577510257751117:g.2577510_2577511insC-
NM_000430.4(PAFAH1B1):c.830A>C (p.His277Pro)5048PAFAH1B1Pathogenicrs121434490RCV000008550; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172577512257751217:g.2577512A>COMIM Allelic Variant:601545.0010,UniProtKB (protein):P43034#VAR_037301C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.852G>A (p.Trp284Ter)5048PAFAH1B1Pathogenicrs1567559851RCV000680056; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172577534257753417:g.2577534G>A-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.899A>G (p.Glu300Gly)5048PAFAH1B1Likely pathogenicrs1555527149RCV000504340; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172577581257758117:g.2577581A>G-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.900G>C (p.Glu300Asp)5048PAFAH1B1Likely pathogenicrs587784291RCV000500981; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172577582257758217:g.2577582G>C-
NM_000430.4(PAFAH1B1):c.911del (p.Ser304fs)5048PAFAH1B1Pathogenicrs797045871RCV000193085; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172579809257980917:g.2579809_2579809del-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.933dup (p.Leu312fs)5048PAFAH1B1Pathogenicrs797045872RCV000193935; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172579830257983117:g.2579830_2579831insG-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.949G>C (p.Asp317His)5048PAFAH1B1Pathogenicrs121434485RCV000008544; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172579847257984717:g.2579847G>COMIM Allelic Variant:601545.0005,UniProtKB (protein):P43034#VAR_015400C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.991_1002+10del5048PAFAH1B1Pathogenicrs1567561137RCV000008542; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172579886257990717:g.2579886_2579907delOMIM Allelic Variant:601545.0003C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.1003-30_1032del5048PAFAH1B1Pathogenicrs1555527743RCV000193329; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172583426258348517:g.2583426_2583485del-C0431375 607432 Lissencephaly 1;
NC_000017.10:g.(?_2583433)_(2585146_?)del5048PAFAH1B1Likely pathogenic-1RCV000585868; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA1020091725834332585146-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs)5048PAFAH1B1Pathogenicrs797045855RCV000194197; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009172583472258347317:g.2583472_2583473insT-
NM_000430.4(PAFAH1B1):c.1159+1G>A5048PAFAH1B1Pathogenicrs1057520515RCV000502763; RCV000424252; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009; MedGen:CN517202172583615258361517:g.2583615G>A-C0431375 607432 Lissencephaly 1;
NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile)5048PAFAH1B1Uncertain significancers1131691295RCV000709855; RCV000492828; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA102009; MedGen:CN169374172585053258505317:g.2585053C>T-CN169374 not specified;
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