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:8602
Name:NBIA2B
Definition:
Alternative IDs:OMIM:610217
ParentIDs:MESH:D019150|MESH:D019189
TreeNumbers:C10.228.140.744/C565699 |C18.452.565/C565699
Synonyms:Neuroaxonal Dystrophy, Atypical |NEUROAXONAL DYSTROPHY, ATYPICAL KARAK SYNDROME, INCLUDED |Neurodegeneration With Brain Iron Accumulation 2B |Neurodegeneration With Brain Iron Accumulation, PLA2G6-Related
Slim Mappings:Metabolic disease|Nervous system disease
Reference: MedGen: C565699
MeSH: C565699
OMIM: 610217;
MSeqDR LSDB:  
Genes: PLA2G6;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0011463Childhood onset
3 HP:0003487Babinski sign
4 HP:0002067Bradykinesia
5 HP:0001272Cerebellar atrophy
6 HP:0002059Cerebral atrophy
7 HP:0002072Chorea
NAMDC:  Chorea
8 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
9 HP:0001260Dysarthria
NAMDC:  Dysarthria
10 HP:0002075Dysdiadochokinesis
11 HP:0001310Dysmetria
12 HP:0002015Dysphagia
NAMDC:  Dysphagia
13 HP:0001332Dystonia
NAMDC:  Dystonia
14 HP:0000712Emotional lability
15 HP:0011968Feeding difficulties
16 HP:0002066Gait ataxia
17 HP:0000752Hyperactivity
18 HP:0001276Hypertonia
19 HP:0007772Impaired smooth pursuit
20 HP:0100710Impulsivity
21 HP:0002080Intention tremor
22 HP:0001268Mental deterioration
23 HP:0002180Neurodegeneration
24 HP:0002185Neurofibrillary tangles
25 HP:0000639Nystagmus
26 HP:0000648Optic atrophy
27 HP:0003812Phenotypic variability
28 HP:0003676Progressive
29 HP:0001250Seizures
NAMDC:  Seizures
30 HP:0000736Short attention span
31 HP:0001257Spasticity
NAMDC:  Spasticity
32 HP:0001884Talipes calcaneovalgus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)8398PLA2G6Pathogenicrs587784353RCV000006578|RCV000006579|RCV000147322|RCV000255768; NMONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069|MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|Human Phenotype Ontology:HP:0012675,MedGen:C4021076|MedGen:CN517202223850821838508219TCATNC_000022.10:g.38508218_38508219delClinGen:CA173267,OMIM:603604.0007C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)8398PLA2G6Pathogenic/Likely pathogenicrs121908687RCV000006582|RCV000763482|RCV001268312; NMONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223850854838508548GA22:g.38508548G>AClinGen:CA253798,UniProtKB:O60733#VAR_062531,OMIM:603604.0010C2751842 612953 Parkinson disease 14;
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)8398PLA2G6Pathogenicrs587784350RCV000147317|RCV000985141; NHuman Phenotype Ontology:HP:0012675,MedGen:C4021076|MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223850855438508554GANC_000022.10:g.38508554G>AClinGen:CA173258C4021076 Iron accumulation in brain;
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)8398PLA2G6Pathogenic/Likely pathogenicrs121908686RCV000006581|RCV000811054|RCV001251187|RCV001588801; NMONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069|MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|MedGen:CN517202223850856538508565CTNC_000022.10:g.38508565C>TClinGen:CA253797,UniProtKB:O60733#VAR_062530,OMIM:603604.0009C2751842 612953 Parkinson disease 14;
NM_003560.4(PLA2G6):c.2152G>A (p.Ala718Thr)8398PLA2G6Uncertain significancers371872005RCV001250513; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223850954438509544CT22:g.38509544C>T-
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del)8398PLA2G6Pathogenicrs587784343RCV000006575|RCV000147311|RCV000480455|RCV000761526|RCV001523781; NMONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069|Human Phenotype Ontology:HP:0012675,MedGen:C4021076|MedGen:CN517202|MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|MONDO:MONDO:0018307,MedGen:CN043643,OMIM:PS234200, Orphanet:223850962438509626GACAG22:g.38509624_38509626delClinGen:CA173247,OMIM:603604.0004C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.1976A>G (p.Asn659Ser)8398PLA2G6Likely pathogenicrs1555978219RCV000500906; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223851159238511592TCNC_000022.10:g.38511592T>CClinGen:CA411524699C1857747 610217 Neurodegeneration with brain iron accumulation 2b;
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser)8398PLA2G6Uncertain significance-1RCV001733384|RCV001839056; NMedGen:CN169374|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223851161138511611CT38511611-
NM_003560.4(PLA2G6):c.1933C>T (p.Arg645Ter)8398PLA2G6Pathogenicrs1484455290RCV001329715; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223851163538511635GA38511635-
NM_003560.4(PLA2G6):c.1880-9del8398PLA2G6Pathogenicrs1569243771RCV000761544; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223851169738511697CGCNC_000022.10:g.38511700del-
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)8398PLA2G6Pathogenic/Likely pathogenicrs149712244RCV000147303|RCV000413569|RCV000578256|RCV000624119|RCV001849994; NHuman Phenotype Ontology:HP:0012675,MedGen:C4021076|MedGen:CN517202|MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069223851216238512162CT22:g.38512162C>TClinGen:CA173233C0950123 Inborn genetic diseases;
NM_003560.4(PLA2G6):c.1742+2T>G8398PLA2G6Likely pathogenicrs2087478227RCV001250206; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223851676438516764AC22:g.38516764A>C-
NM_003560.4(PLA2G6):c.1690del (p.Phe563_Leu564insTer)8398PLA2G6Pathogenic-1RCV001845038; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223851681838516818AGA38516817-
NM_003560.4(PLA2G6):c.1676C>T (p.Pro559Leu)8398PLA2G6Uncertain significance-1RCV001823528; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223851683238516832GA38516832-
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)8398PLA2G6Pathogenicrs121908681RCV000006573|RCV001003639|RCV001542712; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|Human Phenotype Ontology:HP:0001251,Human Phenotype Ontology:HP:0001253,Human Phenotype Ontology:HP:0002513,Human Phenotype Ontology:HP:0007050,Human Phenotype Ontology:HP:0007157,MONDO:MOND223851687438516874TG22:g.38516874T>GClinGen:CA253793,UniProtKB:O60733#VAR_029372,OMIM:603604.0002C1857747 610217 Neurodegeneration with brain iron accumulation 2b;
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)8398PLA2G6Conflicting interpretations of pathogenicityrs143826762RCV000147295|RCV000765649|RCV000811515|RCV001144627|RCV001288670; NHuman Phenotype Ontology:HP:0012675,MedGen:C4021076|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069; MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351|MONDO:MONDO223851689338516893CTNC_000022.10:g.38516893C>TClinGen:CA173219C4021076 Iron accumulation in brain;
NM_003560.4(PLA2G6):c.1613G>A (p.Arg538His)8398PLA2G6Pathogenic/Likely pathogenicrs535486098RCV000147294|RCV000412963|RCV001823117|RCV001849993; NHuman Phenotype Ontology:HP:0012675,MedGen:C4021076|MedGen:CN517202|MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069223851689538516895CTNC_000022.10:g.38516895C>TClinGen:CA173217C4021076 Iron accumulation in brain;
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn)8398PLA2G6Conflicting interpretations of pathogenicityrs1555988382RCV000502668|RCV001329713; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069223851918738519187CGNC_000022.10:g.38519187C>GClinGen:CA411527942C1857747 610217 Neurodegeneration with brain iron accumulation 2b;
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln)8398PLA2G6Pathogenicrs587784330RCV000147286|RCV000995605|RCV002051814; NHuman Phenotype Ontology:HP:0012675,MedGen:C4021076|MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069223851925138519251AT22:g.38519251A>TClinGen:CA173204C4021076 Iron accumulation in brain;
NM_003560.4(PLA2G6):c.1427+1G>A8398PLA2G6Pathogenic/Likely pathogenicrs750939090RCV000500147|RCV000763483|RCV001783002; NMONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|223852237738522377CT22:g.38522377C>TClinGen:CA10230870C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.1349-2A>G8398PLA2G6Pathogenicrs797045888RCV000195256|RCV001781569; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|MedGen:CN517202223852245838522458TCNC_000022.10:g.38522458T>CClinGen:CA277467C1857747 610217 Neurodegeneration with brain iron accumulation 2b;
NM_003560.4(PLA2G6):c.1125del (p.Val376fs)8398PLA2G6Pathogenic-1RCV001844389; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223852552238525522CTC38525521-
NM_003560.4(PLA2G6):c.1021G>A (p.Ala341Thr)8398PLA2G6Pathogenic/Likely pathogenicrs769000561RCV001268304|RCV002051590; NMedGen:CN517202|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223852889438528894CT22:g.38528894C>T-
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup)8398PLA2G6Conflicting interpretations of pathogenicityrs797045889RCV000193975|RCV001582688; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|MedGen:CN169374223852896738528968CCGCGNC_000022.10:g.38528968_38528970dupGCGClinGen:CA277236C1857747 610217 Neurodegeneration with brain iron accumulation 2b;
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr)8398PLA2G6Conflicting interpretations of pathogenicityrs528966598RCV000345705|RCV000224530|RCV000765650|RCV002057229; NMONDO:MONDO:0017998,MedGen:CN204472, Orphanet:329303|MedGen:CN517202|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:3223852901738529017CT22:g.38529017C>TClinGen:CA10231094C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His)8398PLA2G6Conflicting interpretations of pathogenicityrs141825182RCV000585504|RCV000765651|RCV001083799|RCV001150840; NMedGen:CN517202|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600223854145438541454CT22:g.38541454C>TClinGen:CA10231275CN517202 not provided;
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp)8398PLA2G6Conflicting interpretations of pathogenicityrs142530390RCV000712686|RCV001085110|RCV001150842|RCV001836872; NMedGen:CN517202|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069|MONDO:MONDO:0017998,MedGen:CN204472, Orphanet:329303|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35223854154538541545GCNC_000022.10:g.38541545G>C-
NM_003560.4(PLA2G6):c.319del (p.Leu107fs)8398PLA2G6Pathogenicrs776376695RCV001264800; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069223854155138541551AGA22:g.38541551_38541551del-
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr)8398PLA2G6Conflicting interpretations of pathogenicityrs121908685RCV000006580|RCV000535771|RCV000660638|RCV001540404; NMONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; 223854163238541632CT22:g.38541632C>TClinGen:CA253795,OMIM:603604.0008C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn)8398PLA2G6Uncertain significancers150024227RCV000260236|RCV000765653|RCV000762074|RCV001094773; NMONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:35069|223856534338565343CTNC_000022.10:g.38565343C>TClinGen:CA10231378C0270724 256600 Infantile neuroaxonal dystrophy;
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys)8398PLA2G6Uncertain significancers143250889RCV000584924|RCV001144725|RCV000764385|RCV001231034; NMedGen:CN517202|MONDO:MONDO:0017998,MedGen:CN204472, Orphanet:329303|MONDO:MONDO:0013060,MedGen:C2751842,OMIM:612953, Orphanet:199351; MONDO:MONDO:0024457,MedGen:C0270724,OMIM:256600, Orphanet:35069; MONDO:MONDO:0012444,MedGen:C1857747,OMIM:610217, Orphanet:3223856541838565418GA22:g.38565418G>AClinGen:CA10231391CN517202 not provided;
MSeqDR Portal