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:10231
Name:Primary lateral sclerosis juvenile
Definition:
Alternative IDs:OMIM:606353
ParentIDs:MESH:D016472
TreeNumbers:C10.574.562/C536416 |C10.668.467/C536416
Synonyms:Juvenile Primary Lateral Sclerosis |PLSJ |PLS, JUVENILE |Primary Lateral Sclerosis, Juvenile
Slim Mappings:Nervous system disease
Reference: MedGen: C536416
MeSH: C536416
OMIM: 606353;
MSeqDR LSDB:  
Genes: ALS2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0011463Childhood onset
3 HP:0003621Juvenile onset
4 HP:0002127Abnormal upper motor neuron morphology
5 HP:0003487Babinski sign
6 HP:0002120Cerebral cortical atrophy
7 HP:0000183Difficulty in tongue movements
8 HP:0002015Dysphagia
NAMDC:  Dysphagia
9 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
10 HP:0002193Pseudobulbar behavioral symptoms
11 HP:0001152Saccadic smooth pursuit
12 HP:0003677Slow progression
13 HP:0002464Spastic dysarthria
14 HP:0002064Spastic gait
15 HP:0001285Spastic tetraparesis
16 HP:0002491Spasticity of facial muscles
17 HP:0002501Spasticity of pharyngeal muscles
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_020919.4(ALS2):c.4627-69T>A57679ALS2Benign-1RCV001549125|RCV001549124|RCV001549126|RCV001713030; NMONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MedGen:CN5172022202569992202569992202569992-
NM_020919.4(ALS2):c.4581-48T>C57679ALS2Benignrs3219170RCV000247168|RCV001549260|RCV001549259|RCV001549261|RCV001711575; NMedGen:CN169374|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MedGen:CN51720222025702322025702322:g.202570232A>GClinGen:CA2057543CN169374 not specified;
NM_020919.4(ALS2):c.4580+7G>A57679ALS2Benignrs3219169RCV000242163|RCV000306834|RCV000391745|RCV001509590|RCV001549262|RCV001660346; NMedGen:CN169374|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605|MedGen:CN169291|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604|MedGen:CN51720222025715622025715622:g.202571562C>TClinGen:CA2057550CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter)57679ALS2Likely pathogenicrs863225293RCV000986979|RCV002500830; NMONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:29312202574623202574623NC_000002.11:g.202574623G>AClinVar:217879C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.4123-64G>A57679ALS2Benign-1RCV001549263|RCV001549264|RCV001549265|RCV001673194; NMONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MedGen:CN5172022202574825202574825202574825-
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=)57679ALS2Benignrs3219168RCV000250217|RCV000283291|RCV000347093|RCV000710524|RCV001509591|RCV001549266; NMedGen:CN169374|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605|MedGen:CN169291|MedGen:CN517202|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:24760422025758212025758212:g.202575821G>AClinGen:CA2057684CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.4004+25C>T57679ALS2Benignrs3219167RCV000254072|RCV001549269|RCV001549267|RCV001549268|RCV001651241; NMedGen:CN169374|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604|MedGen:CN51720222025803702025803702:g.202580370G>AClinGen:CA2057701CN169374 not specified;
NM_020919.4(ALS2):c.3583G>T (p.Gly1195Ter)57679ALS2Pathogenicrs1574698048RCV000995485; NMONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:24760422025880942025880942:g.202588094C>A-
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter)57679ALS2Likely pathogenicrs1064797281RCV000488207|RCV002512105; NMedGen:CN517202|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:2931682202591411202591411NC_000002.11:g.202591411C>TClinGen:CA16621787CN517202 not provided;
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met)57679ALS2Uncertain significancers781051642RCV000704262|RCV000764354; NMONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:24762202591435202591435NC_000002.11:g.202591435T>A-C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.2980-2A>G57679ALS2Pathogenicrs386134184RCV000004666; NMONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:2476042202591591202591591NC_000002.11:g.202591591T>CClinGen:CA340253,OMIM:606352.0013C1853396 606353 Juvenile primary lateral sclerosis;
NM_020919.4(ALS2):c.2842-20C>T57679ALS2Benign/Likely benign-1RCV001590574|RCV002070458|RCV002488436; NMedGen:CN517202|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:60722202592518202592518202592518-
NM_020919.4(ALS2):c.2487G>A (p.Leu829=)57679ALS2Uncertain significancers1691690962RCV001331155; NMONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:2476042202598092202598092202598092-
NM_020919.4(ALS2):c.2466G>A (p.Val822=)57679ALS2Benignrs2276615RCV000249292|RCV000288406|RCV000352784|RCV000710522|RCV001509592|RCV001548877; NMedGen:CN169374|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605|MedGen:CN169291|MedGen:CN517202|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:24760422025981132025981132:g.202598113C>TClinGen:CA2058174CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.2171-62C>T57679ALS2Benign-1RCV001548878|RCV001548879|RCV001548880|RCV001655873; NMONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MedGen:CN5172022202606639202606639202606639-
NM_020919.4(ALS2):c.2170+19T>C57679ALS2Likely benign-1RCV002208091|RCV002500434; NMONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:29312202608962202608962202608962-
NM_020919.4(ALS2):c.2104G>T (p.Glu702Ter)57679ALS2Likely pathogenicrs1574748038RCV000991370; NMONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:29316822026090472026090472:g.202609047C>A-
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs)57679ALS2Pathogenicrs386134181RCV000004656|RCV000995486; NMONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:29316822026114192026114202:g.202611419_202611420delClinGen:CA340239,OMIM:606352.0002C1853396 606353 Juvenile primary lateral sclerosis;
NM_020919.4(ALS2):c.1619G>A (p.Gly540Glu)57679ALS2Pathogenicrs386134178RCV000034964; NMONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:2476042202619247202619247NC_000002.11:g.202619247C>TClinGen:CA344594C1853396 606353 Juvenile primary lateral sclerosis;
NM_020919.4(ALS2):c.1427_1428del (p.Glu476fs)57679ALS2Pathogenicrs386134176RCV000004657; NMONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:24760422026221682026221692:g.202622168_202622169delClinGen:CA340240,OMIM:606352.0004C1853396 606353 Juvenile primary lateral sclerosis;
NM_020919.4(ALS2):c.1321_1327del (p.Ile441fs)57679ALS2Likely pathogenic-1RCV002512482; NMONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:2931682202622269202622275NC_000002.11:g.202622272_202622278del-
NM_020919.4(ALS2):c.1233T>G (p.Tyr411Ter)57679ALS2Pathogenicrs369577952RCV000640988|RCV000763471; NMONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:29312202622363202622363NC_000002.11:g.202622363A>CClinGen:CA350326975C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg)57679ALS2Conflicting interpretations of pathogenicityrs190369242RCV000512695|RCV000516346|RCV000764355|RCV001082210|RCV001137184|RCV001139424|RCV001848003; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168; MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604|MONDO:MONDO:0011797,MedGen:C22202622481202622481NC_000002.11:g.202622481G>CClinGen:CA2058513C2931441 607225 Infantile-onset ascending hereditary spastic paralysis;
NM_020919.4(ALS2):c.1102G>A (p.Val368Met)57679ALS2Benignrs3219156RCV000243956|RCV000269440|RCV000326864|RCV000710519|RCV001509593|RCV001548881; NMedGen:CN169374|MedGen:CN169291|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605|MedGen:CN517202|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:24760422026256152026256152:g.202625615C>TClinGen:CA2058548,UniProtKB:Q96Q42#VAR_015656CN169291 ALS2-Related Disorders;
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)57679ALS2Pathogenic/Likely pathogenicrs1574787779RCV000991371|RCV000995488|RCV001030773; NMONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604; MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605; MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293122026261162026261162:g.202626116G>A-
NM_020919.4(ALS2):c.553del (p.Thr185fs)57679ALS2Pathogenicrs386134174RCV000004664|RCV000995489; NMONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:24760422026261642026261642:g.202626164_202626164delClinGen:CA340250,OMIM:606352.0011C1859807 205100 Amyotrophic lateral sclerosis type 2;
NM_020919.4(ALS2):c.367T>C (p.Cys123Arg)57679ALS2Uncertain significancers1429775734RCV001331156|RCV001064572; NMONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:247604|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:29316822026263502026263502:g.202626350A>G-
NM_020919.4(ALS2):c.275_276del (p.Tyr92fs)57679ALS2Pathogenicrs1693780539RCV001089475; NMONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:24760422026264412026264422:g.202626441_202626442del-
NM_020919.4(ALS2):c.20+7T>C57679ALS2Benignrs3219153RCV000243518|RCV000302011|RCV000399186|RCV001509594|RCV001610719|RCV001548882; NMedGen:CN169374|MONDO:MONDO:0008780,MedGen:C1859807,OMIM:205100, Orphanet:300605|MedGen:CN169291|MONDO:MONDO:0011797,MedGen:C2931441,OMIM:607225, Orphanet:293168|MedGen:CN517202|MONDO:MONDO:0011663,MedGen:C1853396,OMIM:606353, Orphanet:24760422026335822026335822:g.202633582A>GClinGen:CA2058752CN169291 ALS2-Related Disorders;
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