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Acidosis, Lactic (D000140)
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Pyruvate Dehydrogenase Complex Deficiency Disease (D015325)
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Pyruvate Dehydrogenase E3-Binding Protein Deficiency (C565447)

       Child Nodes:



 Sister Nodes: 
..expandPhosphoenolpyruvate carboxykinase 2 deficiency (C536655)  LSDB  L: 00046;
..expandPyruvate Dehydrogenase E1-Beta Deficiency (C566729)  LSDB  L: 00478;
..expandPyruvate Dehydrogenase E2 Deficiency (C565448)  LSDB  L: 00475;
..expandPyruvate Dehydrogenase E3-Binding Protein Deficiency (C565447)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:10503
Name:Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Definition:
Alternative IDs:OMIM:245349
ParentIDs:MESH:D000140|MESH:D015325
TreeNumbers:C10.228.140.163.100.750/C565447 |C10.597.606.360.455.875/C565447 |C16.320.322.500.875/C565447 |C16.320.400.525.875/C565447 |C16.320.565.189.750/C565447 |C16.320.565.202.810.766/C565447 |C18.452.076.176.180/C565447 |C18.452.132.100.750/C565447 |C18.452.648.189.75
Synonyms:Lactic Acidemia due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex |PDHXD
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Nervous system disease
Reference: MedGen: C565447
MeSH: C565447
OMIM: 245349;
MSeqDR LSDB:  
Genes: PDHX; PDYN;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003577Congenital onset
3 HP:0000496Abnormality of eye movement
4 HP:0001251Ataxia
5 HP:0002928Decreased activity of the pyruvate dehydrogenase complex
6 HP:0001332Dystonia
NAMDC:  Dystonia
7 HP:0000286Epicanthus
8 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
9 HP:0001263Global developmental delay
NAMDC:  Mental retardation
10 HP:0000218High palate
11 HP:0003348Hyperalaninemia
12 HP:0000316Hypertelorism
13 HP:0003542Increased serum pyruvate
14 HP:0001249Intellectual disability
15 HP:0003128Lactic acidosis
16 HP:0001942Metabolic acidosis
17 HP:0000252Microcephaly
18 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
19 HP:0000648Optic atrophy
20 HP:0001338Partial agenesis of the corpus callosum
21 HP:0000767Pectus excavatum
22 HP:0007010Poor fine motor coordination
23 HP:0007015Poor gross motor coordination
24 HP:0001250Seizures
NAMDC:  Seizures
25 HP:0001258Spastic paraplegia
26 HP:0002510Spastic tetraplegia
27 HP:0002416Subependymal cysts
28 HP:0000243Trigonocephaly
29 HP:0002317Unsteady gait
30 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003477.2(PDHX):c.44G>A (p.Arg15His)8050PDHXUncertain significance387906998RCV000023731; RCV000198591; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182; MedGen:CN517202113493824634938246OMIM Allelic Variant:608769.0010CN169374 not specified;
NG_013368.1:g.5604_20276del8050PDHXPathogenic-1RCV000002192; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182113493828034952952OMIM Allelic Variant:608769.0001C1855553 245349 Pyruvate dehydrogenase E3-binding protein deficiency;
NM_003477.2(PDHX):c.87_90del (p.Lys30Glyfs)8050PDHXPathogenic724159828RCV000002194; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182113493828934938292OMIM Allelic Variant:608769.0003C1855553 245349 Pyruvate dehydrogenase E3-binding protein deficiency;
NM_003477.2(PDHX):c.134G>A (p.Trp45Ter)8050PDHXLikely pathogenic1064796807RCV000762841; RCV000486323; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182; MedGen:CN517202113493833634938336-CN517202 not provided;
NM_003477.2(PDHX):c.403G>T (p.Gly135Ter)8050PDHXUncertain significance-1RCV000779059; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182113497899134978991-
NM_003477.2(PDHX):c.479G>A (p.Arg160His)8050PDHXnot provided747386411RCV000579179; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182113497906734979067-C1855553 245349 Pyruvate dehydrogenase E3-binding protein deficiency;
NM_003477.2(PDHX):c.589C>A (p.Leu197Met)8050PDHXUncertain significance139052284RCV000763736; RCV000200463; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182; MedGen:CN517202113498201334982013-CN169374 not specified;
NM_003477.2(PDHX):c.620del (p.Pro207Leufs)8050PDHXPathogenic724159979RCV000002197; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182113498204434982044OMIM Allelic Variant:608769.0006C1855553 245349 Pyruvate dehydrogenase E3-binding protein deficiency;
NM_003477.2(PDHX):c.641+1G>A8050PDHXPathogenic724159829RCV000002195; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182113498206634982066OMIM Allelic Variant:608769.0004C1855553 245349 Pyruvate dehydrogenase E3-binding protein deficiency;
NM_003477.2(PDHX):c.742C>T (p.Gln248Ter)8050PDHXPathogenic113309941RCV000002199; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182113498828734988287OMIM Allelic Variant:608769.0008C1855553 245349 Pyruvate dehydrogenase E3-binding protein deficiency;
NM_003477.2(PDHX):c.965_1023del (p.Asp322Alafs)8050PDHXPathogenic1554989996RCV000002193; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182113499967134999729OMIM Allelic Variant:608769.0002C1855553 245349 Pyruvate dehydrogenase E3-binding protein deficiency;
NM_003477.2(PDHX):c.1024-1G>A8050PDHXPathogenic724159830RCV000002196; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182113500611635006116OMIM Allelic Variant:608769.0005C1855553 245349 Pyruvate dehydrogenase E3-binding protein deficiency;
NM_003477.2(PDHX):c.1129A>G (p.Ile377Val)8050PDHXUncertain significance75430333RCV000680150; RCV000309667; RCV000676200; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182; MedGen:C0034345, Orphanet:ORPHA765,SNOMED CT:46683007; MedGen:CN517202113500622235006222-CN517202 not provided;
NM_003477.2(PDHX):c.1183-3088_1247+760del8050PDHXPathogenic-1RCV000002200; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182113501077435014686OMIM Allelic Variant:608769.0009C1855553 245349 Pyruvate dehydrogenase E3-binding protein deficiency;
NM_003477.2(PDHX):c.1336C>T (p.Arg446Ter)8050PDHXPathogenic1135402725RCV000149582; NMedGen:C1855553,OMIM:245349, Orphanet:ORPHA255182113501654935016549OMIM Allelic Variant:608769.0011C1855553 245349 Pyruvate dehydrogenase E3-binding protein deficiency;
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