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:
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Acidosis, Lactic (D000140)
Parent Node:
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Hyperglycinemia, Nonketotic (D020158)
Parent Node:
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Seizures (D012640)
..Starting node
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HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES (OMIM:614462)

       Child Nodes:



 Sister Nodes: 
..expandAdams Nance syndrome (C538224)
..expandAlcohol Withdrawal Seizures (D020270)
..expandAlopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism (C563370)
..expandARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES (OMIM:615553)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandCerebroretinal Microangiopathy with Calcifications and Cysts (C567401)
..expandChromosome 15q13.3 Microdeletion Syndrome (C567439)
..expandConvulsive Disorder, Familial, with Prenatal or Early Onset (C565678)
..expandCopper deficiency, familial benign (C535468)
..expandCryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly (C563840)
..expandDYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER (OMIM:617171)
..expandDysmyelination With Jaundice (C565610)
..expandGlycosylphosphatidylinositol deficiency (C537277)
..expandHyper-Beta-Alaninemia (C562684)
..expandHYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES (OMIM:614462)  LSDB  L: 00479;
..expandHyperleucine-Isoleucinemia (C562674)
..expandHYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY (OMIM:614300)
..expandHyperphosphatemia, Polyuria, and Seizures (C565494)
..expandHYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION (OMIM:616418)
..expandHypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..expandHypotonia, Seizures, And Precocious Puberty (C567566)
..expandInfantile convulsions and paroxysmal choreoathetosis, familial (C535522)
..expandMENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..expandMental retardation, X-linked, syndromic 5 (C535773)
..expandMethionine Malabsorption Syndrome (C562682)
..expandMicrocephaly seizures genital hypoplasia (C537540)
..expandMicrocephaly seizures mental retardation heart disorders (C537544)
..expandMicrocephaly sparse hair mental retardation seizures (C537545)
..expandMICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..expandMICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
..expandMICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..expandMICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES (OMIM:614833)
..expandMuller Barth Menger syndrome (C537370)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1 (OMIM:614080)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
..expandMULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (OMIM:615398)
..expandNEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
..expandOPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES (OMIM:616732)
..expandPACHYGYRIA WITH MENTAL RETARDATION, SEIZURES, AND ARACHNOID CYSTS (OMIM:600176)
..expandPartington X-linked mental retardation syndrome (C536300)
..expandPerniola Krajewska Carnevale syndrome (C536660)
..expandPhosphoglycerate Dehydrogenase Deficiency (C566618)
..expandPhosphoserine Aminotransferase Deficiency (C567032)
..expandPyridoxamine 5-Prime-Phosphate Oxidase Deficiency (C566449)
..expandQazi Markouizos syndrome (C536259)
..expandSEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME (OMIM:616632)
..expandSeizures, Febrile (D003294) Child21
..expandSeSAME syndrome (C557674)
..expandStatus Epilepticus (D013226) Child1
..expandTranebjaerg Svejgaard syndrome (C536978)
..expandWHITE-SUTTON SYNDROME (OMIM:616364)
..expandX-linked mental retardation Gustavson type (C536759)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5854
Name:HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES
Definition:
Alternative IDs:
ParentIDs:MESH:D000140|MESH:D012640|MESH:D020158
TreeNumbers:C10.228.140.163.100.375/614462 |C10.597.742/614462 |C16.320.565.100.477/614462 |C16.320.565.189.375/614462 |C18.452.076.176.180/614462 |C18.452.132.100.375/614462 |C18.452.648.100.477/614462 |C18.452.648.189.375/614462 |C23.888.592.742/614462
Synonyms:HGCLAS |PDHLD |PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease|Signs and symptoms
Reference: MedGen: 614462
MeSH: 614462
OMIM: 614462;
MSeqDR LSDB: 00479;  
Genes: LIAS; TTC7A;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002104Apnea
3 HP:0002059Cerebral atrophyHP:0040283
4 HP:0001298Encephalopathy
NAMDC:  Encephalopathy (At least one neurological manifestation marked with an *)
5 HP:0011968Feeding difficulties
6 HP:0001371Flexion contracture
7 HP:0001290Generalized hypotonia
8 HP:0001510Growth delay
NAMDC:  Growth delay
9 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
10 HP:0002151Increased serum lactate
11 HP:0003128Lactic acidosis
12 HP:0002415LeukodystrophyHP:0040283
13 HP:0000252Microcephaly
14 HP:0001270Motor delay
15 HP:0001336Myoclonus
NAMDC:  Myoclonus
16 HP:0012736Profound global developmental delay
17 HP:0002093Respiratory insufficiency
18 HP:0001250Seizures
NAMDC:  Seizures
19 HP:0011344Severe global developmental delay
20 HP:0002360Sleep disturbance
21 HP:0002510Spastic tetraplegia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000004.11:g.(?_39459814)_(39528725_?)dup11019LIASUncertain significance-1RCV000708154; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943945981439528725nana-C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NC_000004.11:g.(?_39460718)_(39478755_?)dup11019LIASUncertain significance-1RCV000549144; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946071839478755nana-C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.7C>T (p.Leu3=)11019LIASLikely benignrs1553933562RCV000533614; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946074439460744CT4:g.39460744C>TClinGen:CA438944410
NM_006859.4(LIAS):c.11G>T (p.Arg4Leu)11019LIASUncertain significance-1RCV001065491; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946074839460748GT4:g.39460748G>T-
NM_006859.4(LIAS):c.14G>C (p.Cys5Ser)11019LIASUncertain significance-1RCV001201438; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946075139460751GC4:g.39460751G>C-
NM_006859.4(LIAS):c.20A>T (p.Asp7Val)11019LIASUncertain significance-1RCV001065076; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946075739460757AT4:g.39460757A>T-
NM_006859.4(LIAS):c.23C>T (p.Ala8Val)11019LIASUncertain significancers1467308371RCV000813169; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946076039460760CT4:g.39460760C>T-
NM_006859.4(LIAS):c.29G>A (p.Arg10His)11019LIASUncertain significancers1370681479RCV000650018; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946076639460766GA4:g.39460766G>AClinGen:CA356663505C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.31A>T (p.Thr11Ser)11019LIASLikely benignrs147516123RCV000650027; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946076839460768AT4:g.39460768A>TClinGen:CA315735C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.35T>A (p.Leu12Gln)11019LIASUncertain significancers1436660040RCV000687196; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946077239460772TA4:g.39460772T>A-
NM_006859.4(LIAS):c.37G>A (p.Gly13Arg)11019LIASUncertain significancers1320749254RCV000697865; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946077439460774GA4:g.39460774G>A-
NM_006859.4(LIAS):c.56G>C (p.Arg19Thr)11019LIASUncertain significance-1RCV001216725; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946242039462420GC4:g.39462420G>C-
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser)11019LIASBenign/Likely benignrs140921822RCV000442643|RCV000712219|RCV001082170; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946242139462421AC4:g.39462421A>CClinGen:CA2894568CN169374 not specified;
NM_006859.4(LIAS):c.64dup (p.Cys22fs)11019LIASPathogenicrs960319940RCV000650023; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946242339462424AAT4:g.39462423_39462424insTClinGen:CA658796424C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.60T>C (p.Tyr20=)11019LIASLikely benignrs201996792RCV000532731|RCV000616697; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:401859|MedGen:CN16937443946242439462424TC4:g.39462424T>CClinGen:CA2894570
NM_006859.4(LIAS):c.66C>G (p.Cys22Trp)11019LIASUncertain significance-1RCV001041713; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946243039462430CG4:g.39462430C>G-
NM_006859.4(LIAS):c.80C>T (p.Pro27Leu)11019LIASUncertain significancers369125654RCV000690970; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946244439462444CT4:g.39462444C>T-
NM_006859.4(LIAS):c.81G>A (p.Pro27=)11019LIASLikely benignrs760501971RCV000935249; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946244539462445GA4:g.39462445G>A-
NM_006859.4(LIAS):c.108G>T (p.Lys36Asn)11019LIASUncertain significancers199942447RCV000823167; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946247239462472GT4:g.39462472G>T-
NM_006859.4(LIAS):c.110A>T (p.Glu37Val)11019LIASUncertain significancers763606110RCV000650019; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946247439462474AT4:g.39462474A>TClinGen:CA2894583C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.114C>A (p.Leu38=)11019LIASLikely benignrs750439302RCV000527383; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946247839462478CA4:g.39462478C>AClinGen:CA95724939
NM_006859.4(LIAS):c.120G>T (p.Gln40His)11019LIASUncertain significancers1041843537RCV000542397; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946248439462484GT4:g.39462484G>TClinGen:CA95724946
NM_006859.4(LIAS):c.122A>G (p.Asn41Ser)11019LIASUncertain significancers761295906RCV000188053|RCV000548048; NMedGen:CN517202|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946248639462486AG4:g.39462486A>GClinGen:CA315749CN169374 not specified;
NM_006859.4(LIAS):c.129A>G (p.Pro43=)11019LIASLikely benignrs377315137RCV000650028; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946249339462493AG4:g.39462493A>GClinGen:CA2894592C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.140A>G (p.Asp47Gly)11019LIASUncertain significancers1184621128RCV000700357; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946250439462504AG4:g.39462504A>G-
NM_006859.4(LIAS):c.168G>A (p.Arg56=)11019LIASLikely benignrs768182597RCV000942862; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946253239462532GA4:g.39462532G>A-
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile)11019LIASUncertain significancers141723499RCV000650020; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946253739462537CT4:g.39462537C>TClinGen:CA2894601C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.212del (p.Gly71fs)11019LIASPathogenic-1RCV001209580; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946257539462575AGA4:g.39462575_39462575del-
NM_006859.4(LIAS):c.218G>C (p.Arg73Thr)11019LIASUncertain significancers1172950083RCV000526052; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946258239462582GC4:g.39462582G>CClinGen:CA356663914
NM_006859.4(LIAS):c.218+4A>G11019LIASUncertain significance-1RCV001202183; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946258639462586AG4:g.39462586A>G-
NM_006859.4(LIAS):c.244A>G (p.Thr82Ala)11019LIASUncertain significancers1560666276RCV000698183; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946384139463841AG4:g.39463841A>G-
NM_006859.4(LIAS):c.266dup (p.Asn89fs)11019LIASPathogenic-1RCV001223318; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946385839463859GGA4:g.39463858_39463859insA-
NM_006859.4(LIAS):c.266A>T (p.Asn89Ile)11019LIASUncertain significance-1RCV001214949; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946386339463863AT4:g.39463863A>T-
NM_006859.4(LIAS):c.277del (p.Lys92_Leu93insTer)11019LIASConflicting interpretations of pathogenicityrs1553934069RCV000627392|RCV001208252; NMedGen:CN517202|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946387439463874ACA4:g.39463874_39463874delClinGen:CA658796425CN169374 not specified;
NM_006859.4(LIAS):c.292C>T (p.Arg98Trp)11019LIASUncertain significancers796052702RCV000696446; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946388939463889CT4:g.39463889C>T-C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.297T>C (p.Asn99=)11019LIASBenign/Likely benignrs144299903RCV000188044|RCV000861542; NMedGen:CN169374|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946389439463894TC4:g.39463894T>CClinGen:CA315731CN169374 not specified;
NM_006859.4(LIAS):c.298T>A (p.Leu100Ile)11019LIASUncertain significance-1RCV001040465; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946389539463895TA4:g.39463895T>A-
NM_006859.4(LIAS):c.306C>A (p.Leu102=)11019LIASBenignrs61731032RCV000126624|RCV000540749|RCV000677016; NMedGen:CN169374|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:401859|MedGen:CN51720243946390339463903CA4:g.39463903C>AClinGen:CA291930CN517202 not provided;
NM_006859.4(LIAS):c.312A>G (p.Thr104=)11019LIASUncertain significancers749254524RCV000799381; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946390939463909AG4:g.39463909A>G-
NM_006859.4(LIAS):c.329G>A (p.Arg110Gln)11019LIASUncertain significance-1RCV001037519; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946516139465161GA4:g.39465161G>A-
NM_006859.4(LIAS):c.331T>A (p.Cys111Ser)11019LIASUncertain significancers747124026RCV000650016|RCV000730078; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:401859|MedGen:CN51720243946516339465163TA4:g.39465163T>AClinGen:CA2894646C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.348G>C (p.Glu116Asp)11019LIASUncertain significance-1RCV001231307; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946518039465180GC4:g.39465180G>C-
NM_006859.4(LIAS):c.363del (p.Glu122fs)11019LIASPathogenicrs1553934199RCV000650024; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946519539465195GAG4:g.39465195_39465195delClinGen:CA658796426C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr)11019LIASUncertain significancers74528014RCV000712218|RCV001222759; NMedGen:CN517202|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946520839465208GA4:g.39465208G>A-
NM_006859.4(LIAS):c.386C>T (p.Thr129Met)11019LIASUncertain significance-1RCV001227498; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946521839465218CT4:g.39465218C>T-
NM_006859.4(LIAS):c.393+4G>A11019LIASConflicting interpretations of pathogenicityrs368453789RCV000441874|RCV000650021; NMedGen:CN169374|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946522939465229GA4:g.39465229G>AClinGen:CA2894657CN169374 not specified;
NM_006859.4(LIAS):c.393+7C>T11019LIASUncertain significancers372423537RCV000808192; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946523239465232CT4:g.39465232C>T-
NM_006859.4(LIAS):c.393+7C>A11019LIASLikely benignrs372423537RCV000871595; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946523239465232CA4:g.39465232C>A-
NM_006859.4(LIAS):c.393+7C>G11019LIASUncertain significance-1RCV001196141; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946523239465232CG4:g.39465232C>G-
NM_006859.4(LIAS):c.393+8C>A11019LIASBenignrs201574806RCV000529515; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946523339465233CA4:g.39465233C>AClinGen:CA315733C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.393+10G>A11019LIASBenignrs372094616RCV000126625|RCV000555762; NMedGen:CN169374|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946523539465235GA4:g.39465235G>AClinGen:CA291932CN169374 not specified;
NM_006859.4(LIAS):c.394-6T>C11019LIASUncertain significance-1RCV001036491; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946666039466660TC4:g.39466660T>C-
NM_006859.4(LIAS):c.403G>C (p.Asp135His)11019LIASUncertain significancers772011702RCV000698810; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946667539466675GC4:g.39466675G>C-C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.440dup (p.Thr148fs)11019LIASPathogenic-1RCV001206495; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946671039466711TTA4:g.39466710_39466711insA-
NM_006859.4(LIAS):c.446C>G (p.Ala149Gly)11019LIASUncertain significance-1RCV001230201; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946671839466718CG4:g.39466718C>G-
NM_006859.4(LIAS):c.473G>C (p.Ser158Thr)11019LIASUncertain significancers751421705RCV000650026; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946674539466745GC4:g.39466745G>CClinGen:CA2894692C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.475_477delinsAAA (p.Glu159Lys)11019LIASPathogenicrs869320760RCV000210221; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946674739466749GAGAAANC_000004.11:g.39466747_39466749delinsAAAClinGen:CA351355,OMIM:607031.0002C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.475G>A (p.Glu159Lys)11019LIASUncertain significance-1RCV001174542; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946674739466747GA4:g.39466747G>A-
NM_006859.4(LIAS):c.488C>T (p.Thr163Ile)11019LIASUncertain significance-1RCV001219128; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946676039466760CT4:g.39466760C>T-
NM_006859.4(LIAS):c.542A>T (p.Asp181Val)11019LIASUncertain significancers796052704RCV001204325; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946681439466814AT4:g.39466814A>T-
NM_006859.4(LIAS):c.548A>G (p.Asp183Gly)11019LIASUncertain significance-1RCV001070988; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946682039466820AG4:g.39466820A>G-
NM_006859.4(LIAS):c.550+4A>G11019LIASUncertain significancers1560668262RCV000695685; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946682639466826AG4:g.39466826A>G-
NM_001363700.2(LIAS):c.299+1682_299+1690del11019LIASUncertain significancers776064587RCV000650022; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946690439466912AGATATGCCTA4:g.39466904_39466912delClinGen:CA2894707
NM_006859.4(LIAS):c.552T>G (p.Asp184Glu)11019LIASUncertain significance-1RCV001216983; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946690639466906TG4:g.39466906T>G-
NM_006859.4(LIAS):c.563G>C (p.Gly188Ala)11019LIASUncertain significancers1210720598RCV000706297; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946691739466917GC4:g.39466917G>C-
NM_006859.4(LIAS):c.587C>A (p.Thr196Asn)11019LIASLikely pathogenic-1RCV001257439; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946694139466941CA4:g.39466941C>A-
NM_006859.4(LIAS):c.589G>A (p.Val197Ile)11019LIASUncertain significance-1RCV001215937; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946694339466943GA4:g.39466943G>A-
NM_006859.4(LIAS):c.592T>A (p.Ser198Thr)11019LIASUncertain significancers1553934367RCV000650025; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946694639466946TA4:g.39466946T>AClinGen:CA356664778C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.595T>C (p.Tyr199His)11019LIASUncertain significance-1RCV001232566; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946694939466949TC4:g.39466949T>C-
NM_006859.4(LIAS):c.616A>G (p.Lys206Glu)11019LIASUncertain significance-1RCV001232815; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946914539469145AG4:g.39469145A>G-
NM_006859.4(LIAS):c.620T>G (p.Ile207Ser)11019LIASUncertain significancers1196873747RCV000805881; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946914939469149TG4:g.39469149T>G-
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)11019LIASUncertain significancers374709255RCV000188057|RCV000822700; NMedGen:CN517202|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946916639469166AG4:g.39469166A>GClinGen:CA315756
NM_006859.4(LIAS):c.643G>A (p.Asp215Asn)11019LIASUncertain significancers1560669433RCV000694316; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946917239469172GA4:g.39469172G>A-
NM_006859.4(LIAS):c.643del (p.Asp215fs)11019LIASLikely pathogenic-1RCV001195900; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946917239469172TGT4:g.39469172_39469172del-
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu)11019LIASPathogenicrs869312808RCV000210212; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946917439469174TA4:g.39469174T>AOMIM:607031.0003,ClinGen:CA353555
NM_006859.4(LIAS):c.650G>A (p.Arg217Gln)11019LIASUncertain significancers570807277RCV000700777; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946917939469179GA4:g.39469179G>A-
NM_006859.4(LIAS):c.657T>A (p.Asp219Glu)11019LIASUncertain significancers1021766315RCV000703724; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946918639469186TA4:g.39469186T>A-
NM_006859.4(LIAS):c.664_665delinsTA (p.Ala222Ter)11019LIASPathogenic-1RCV001205828; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946919339469194GCTANC_000004.11:g.39469193_39469194delinsTA-
NM_006859.4(LIAS):c.683T>C (p.Leu228Pro)11019LIASUncertain significancers1553934545RCV000650015; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946921239469212TC4:g.39469212T>CClinGen:CA356664995C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.701A>T (p.Tyr234Phe)11019LIASUncertain significance-1RCV001203074; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946923039469230AT4:g.39469230A>T-
NM_006859.4(LIAS):c.725C>T (p.Pro242Leu)11019LIASUncertain significancers746107734RCV000693760; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946925439469254CT4:g.39469254C>T-
NM_006859.4(LIAS):c.726G>A (p.Pro242=)11019LIASBenignrs371053949RCV000542906; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946925539469255GA4:g.39469255G>AClinGen:CA2894744C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.737+1G>A11019LIASLikely pathogenicrs546751789RCV000693572; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946926739469267GA4:g.39469267G>A-C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.737+9G>A11019LIASLikely benignrs750744754RCV000559589; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943946927539469275GA4:g.39469275G>AClinGen:CA2894747
NM_006859.4(LIAS):c.746G>A (p.Arg249His)11019LIASUncertain significancers144133667RCV000023604; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947164739471647GA4:g.39471647G>AClinGen:CA129378,UniProtKB:O43766#VAR_067839,OMIM:607031.0001C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.751C>T (p.Pro251Ser)11019LIASUncertain significancers146513468RCV000687154; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947165239471652CT4:g.39471652C>T-
NM_006859.4(LIAS):c.769C>G (p.Gln257Glu)11019LIASUncertain significancers1427248293RCV000815783; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947167039471670CG4:g.39471670C>G-
NM_006859.4(LIAS):c.779G>A (p.Arg260His)11019LIASUncertain significance-1RCV001207240; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947168039471680GA4:g.39471680G>A-
NM_006859.4(LIAS):c.797A>G (p.Lys266Arg)11019LIASUncertain significancers1560671038RCV000698446; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947169839471698AG4:g.39471698A>G-
NM_006859.4(LIAS):c.807G>A (p.Gln269=)11019LIASLikely benignrs140846573RCV000427732|RCV000862428; NMedGen:CN169374|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947170839471708GA4:g.39471708G>AClinGen:CA2894776CN169374 not specified;
NM_006859.4(LIAS):c.807G>T (p.Gln269His)11019LIASUncertain significance-1RCV001208619; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947170839471708GT4:g.39471708G>T-
NM_006859.4(LIAS):c.832A>C (p.Ile278Leu)11019LIASUncertain significancers528498907RCV000805721; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947173339471733AC4:g.39471733A>C-
NM_006859.4(LIAS):c.849C>T (p.Gly283=)11019LIASConflicting interpretations of pathogenicityrs146030265RCV000188047|RCV001080362; NMedGen:CN517202|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947175039471750CT4:g.39471750C>TClinGen:CA315737CN169374 not specified;
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys)11019LIASUncertain significancers796052699RCV000188048|RCV000801566; NMedGen:CN517202|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947175139471751GA4:g.39471751G>AClinGen:CA315739
NM_006859.4(LIAS):c.869A>T (p.Tyr290Phe)11019LIASUncertain significance-1RCV001237915; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947177039471770AT4:g.39471770A>T-
NM_006859.4(LIAS):c.880A>G (p.Lys294Glu)11019LIASUncertain significance-1RCV001060081; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947178139471781AG4:g.39471781A>G-
NM_006859.4(LIAS):c.890G>A (p.Arg297His)11019LIASUncertain significancers756021613RCV000704982; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947286239472862GA4:g.39472862G>A-C3280887 614462 Pyruvate dehydrogenase lipoic acid synthetase deficiency;
NM_006859.4(LIAS):c.894G>C (p.Glu298Asp)11019LIASUncertain significance-1RCV001214501; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947286639472866GC4:g.39472866G>C-
NM_006859.4(LIAS):c.905A>G (p.Asp302Gly)11019LIASUncertain significancers1206469888RCV000730707|RCV000807984; NMedGen:CN517202|MONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947287739472877AG4:g.39472877A>G-
NM_006859.4(LIAS):c.944G>A (p.Arg315His)11019LIASUncertain significancers145535775RCV000650017|RCV000712220; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:401859|MedGen:CN51720243947291639472916GA4:g.39472916G>AClinGen:CA315745CN169374 not specified;
NM_006859.4(LIAS):c.999A>G (p.Lys333=)11019LIASUncertain significance-1RCV001204970; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947476439474764AG4:g.39474764A>G-
NM_006859.4(LIAS):c.1049G>A (p.Arg350His)11019LIASUncertain significance-1RCV001047014; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947481439474814GA4:g.39474814G>A-
NM_006859.4(LIAS):c.1063G>C (p.Ala355Pro)11019LIASLikely pathogenic-1RCV001257440; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947482839474828GC4:g.39474828G>C-
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs)11019LIASUncertain significancers1560674852RCV000700186; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947871839478722AAAAACA4:g.39478718_39478722del-
NM_006859.4(LIAS):c.1113C>A (p.Asp371Glu)11019LIASUncertain significance-1RCV001209131; NMONDO:MONDO:0013762,MedGen:C3280887,OMIM:614462, Orphanet:40185943947872939478729CA4:g.39478729C>A-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000121897 MSeqDR Search EnsemblLIAS11105lipoic acid synthetase [Source:HGNC Symbol;Acc:16429]00479

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