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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Brain Diseases, Metabolic, Inborn (D020739)
Parent Node:
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Mitochondrial Diseases (D028361)
Parent Node:
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Pyruvate Metabolism, Inborn Errors (D015323)
..Starting node
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Pyruvate Carboxylase Deficiency Disease (D015324)

       Child Nodes:
........expandLeigh necrotizing encephalopathy due to pyruvate carboxylase deficiency (C536255)



 Sister Nodes: 
..expandLeigh Disease (D007888) Child12  LSDB C:3 L: 00015;
..expandPyruvate Carboxylase Deficiency Disease (D015324) Child1  LSDB  L: 00398;
..expandPyruvate Dehydrogenase Complex Deficiency Disease (D015325) Child4  LSDB C:3 L: 00442;
..expandPyruvate Kinase Deficiency of Red Cells (C564858)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9544
Name:Pyruvate Carboxylase Deficiency Disease
Definition:An autosomal recessive metabolic disorder caused by absent or decreased PYRUVATE CARBOXYLASE activity, the enzyme that regulates gluconeogenesis, lipogenesis, and neurotransmitter synthesis. Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic HYPOGLYCEMIA, and hypotonia. The clinical course may be similar to LEIGH DISEASE. (From Am J Hum Genet 1998 Jun;62(6):1312-9)
Alternative IDs:OMIM:266150
ParentIDs:MESH:D015323|MESH:D020739|MESH:D028361
TreeNumbers:C10.228.140.163.100.725 |C16.320.565.189.725 |C16.320.565.202.810.666 |C18.452.132.100.725 |C18.452.648.189.725 |C18.452.648.202.810.666 |C18.452.660.705
Synonyms:Ataxia with Lactic Acidosis 2 |Ataxia with Lactic Acidosis II |Ataxia with Lactic Acidosis, Type II |Deficiency Disease, Pyruvate Carboxylase |Deficiency, Pyruvate Carboxylase |Lactic Acidosis with Ataxia, Type II |LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUV
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: D015324
MeSH: D015324
OMIM: 266150;
MSeqDR LSDB: 00398;  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0002169Clonus
4 HP:0001263Global developmental delay
NAMDC:  Mental retardation
5 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
6 HP:0002240Hepatomegaly
7 HP:0003348Hyperalaninemia
8 HP:0001943Hypoglycemia
9 HP:0002151Increased serum lactate
10 HP:0003542Increased serum pyruvate
11 HP:0001249Intellectual disability
12 HP:0003128Lactic acidosis
13 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
14 HP:0007190Neuronal loss in the cerebral cortex
15 HP:0006970Periventricular leukomalacia
16 HP:0002049Proximal renal tubular acidosis
17 HP:0001250Seizures
NAMDC:  Seizures
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000920.3(PC):c.3409_3410delCT (p.Leu1137Valfs)5091PCPathogenic113994148RCV000020391; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116661649766616498NM_000920.3:c.3409_3410delCTNP_000911.2:p.Leu1137ValfsNC_000011.9:g.66616497_66616498delAG-C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.2874G>T (p.Gly958=)5091PCBenign1131855RCV000020390; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116661743266617432NM_000920.3:c.2874G>TNP_000911.2:p.Gly958=NC_000011.9:g.66617432C>A-C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.2619C>T (p.Asn873=)5091PCBenign2229745RCV000020389; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116661779066617790NM_000920.3:c.2619C>TNP_000911.2:p.Asn873=NC_000011.9:g.66617790G>A-C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.2540C>T (p.Ala847Val)5091PCPathogenic113994147RCV000020388; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116661786966617869NM_000920.3:c.2540C>TNP_000911.2:p.Ala847ValNC_000011.9:g.66617869G>A-C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.2286C>G (p.Arg762=)5091PCBenign1051707RCV000020387; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116661833266618332NM_000920.3:c.2286C>GNP_000911.2:p.Arg762=NC_000011.9:g.66618332G>C-C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.2229G>T (p.Met743Ile)5091PCPathogenic28940590RCV000002176; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116661838966618389NM_000920.3:c.2229G>TNP_000911.2:p.Met743IleNC_000011.9:g.66618389C>AOMIM Allelic Variant:608786.0002C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.2114C>A (p.Ser705Ter)5091PCPathogenic113994146RCV000020385; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116661862066618620NM_000920.3:c.2114C>ANP_000911.2:p.Ser705TerNC_000011.9:g.66618620G>T-C0034341 266150 Pyruvate carboxylase deficiency
NM_022172.2(PC):c.2095G>T (p.Val699Leu)5091PCLikely pathogenic760108147RCV000207120; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116661863966618639NM_022172.2:c.2095G>TNP_071504.2:p.Val699Leu-C0034341 266150 Pyruvate carboxylase deficiency
NM_022172.2(PC):c.2095G>A (p.Val699Met)5091PCLikely pathogenic760108147RCV000207120; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116661863966618639NM_022172.2:c.2095G>ANP_071504.2:p.Val699Met-C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.1892G>A (p.Arg631Gln)5091PCPathogenic113994145RCV000020384; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116661935166619351NM_000920.3:c.1892G>ANP_000911.2:p.Arg631GlnNC_000011.9:g.66619351C>T-C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.1828G>A (p.Ala610Thr)5091PCPathogenic28940589RCV000002175; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116661941566619415NM_000920.3:c.1828G>ANP_000911.2:p.Ala610ThrNC_000011.9:g.66619415C>TOMIM Allelic Variant:608786.0001C0034341 266150 Pyruvate carboxylase deficiency
NM_001040716.1(PC):c.1748G>T (p.Arg583Leu)5091PCPathogenic119103242RCV000002182; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116661998766619987NM_001040716.1:c.1748G>TNP_001035806.1:p.Arg583LeuNC_000011.9:g.66619987C>AOMIM Allelic Variant:608786.0008C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.1705A>G (p.Thr569Ala)5091PCPathogenic113994144RCV000020382; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116662003066620030NM_000920.3:c.1705A>GNP_000911.2:p.Thr569AlaNC_000011.9:g.66620030T>C-C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.1351C>T (p.Arg451Cys)5091PCPathogenic113994143RCV000002178; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116663126266631262NM_000920.3:c.1351C>TNP_000911.2:p.Arg451CysNC_000011.9:g.66631262G>AOMIM Allelic Variant:608786.0004C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.1054G>T (p.Ala352Ser)5091PCBenign1051704RCV000020381; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116663378966633789NM_000920.3:c.1054G>TNP_000911.2:p.Ala352SerNC_000011.9:g.66633789C>A-C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.796T>A (p.Ser266Thr)5091PCPathogenic113994142RCV000020392; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116663788066637880NM_000920.3:c.796T>ANP_000911.2:p.Ser266ThrNC_000011.9:g.66637880A>T-C0034341 266150 Pyruvate carboxylase deficiency
NM_001040716.1(PC):c.467G>A (p.Arg156Gln)5091PCPathogenic119103241RCV000002181; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116663880666638806NM_001040716.1:c.467G>ANP_001035806.1:p.Arg156GlnNC_000011.9:g.66638806C>TOMIM Allelic Variant:608786.0007C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.434T>C (p.Val145Ala)5091PCPathogenic28940591RCV000002177; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116663883966638839NM_000920.3:c.434T>CNP_000911.2:p.Val145AlaNC_000011.9:g.66638839A>GOMIM Allelic Variant:608786.0003C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.227A>T (p.His76Leu)5091PCBenign7104156RCV000020386; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116663925266639252NM_000920.3:c.227A>TNP_000911.2:p.His76LeuNC_000011.9:g.66639252T>A-C0034341 266150 Pyruvate carboxylase deficiency
NM_000920.3(PC):c.184C>T (p.Arg62Cys)5091PCPathogenic113994141RCV000020383; NMedGen:C0034341,OMIM:266150,ORPHA:3008,SNOMED CT:87694001116663929566639295NM_000920.3:c.184C>TNP_000911.2:p.Arg62CysNC_000011.9:g.66639295G>A-C0034341 266150 Pyruvate carboxylase deficiency
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000173599 MSeqDR Search EnsemblPC11920pyruvate carboxylase [Source:HGNC Symbol;Acc:8636]00398

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