MCID: LCT005
MIFTS: 22

Lacticacidemia Due to Pdx1 Deficiency malady

Neuronal diseases, Fetal diseases, Rare diseases categories

Summaries for Lacticacidemia Due to Pdx1 Deficiency

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48OMIM, 34MalaCards
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MalaCards: Lacticacidemia Due to Pdx1 Deficiency, also known as pyruvate dehydrogenase e3-binding protein deficiency, is related to pyruvate dehydrogenase e3-binding protein deficiency and lactic acidosis. An important gene associated with Lacticacidemia Due to Pdx1 Deficiency is PDX1 (pancreatic and duodenal homeobox 1). The compounds serine and pyruvate have been mentioned in the context of this disorder.

Description from OMIM:48 245349

Aliases & Classifications for Lacticacidemia Due to Pdx1 Deficiency

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50Orphanet, 63UMLS, 48OMIM, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

50
pyruvate dehydrogenase e3-binding protein deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

lacticacidemia due to pdx1 deficiency 48
pyruvate dehydrogenase e3-binding protein deficiency 50 63
branched chain alpha-ketoacid dehydrogenase complex deficiency 50
pyruvate dehydrogenase complex component e3 deficiency 50
pyruvate dehydrogenase protein x component deficiency 50
glycine cleavage system l protein deficiency 50
nadh cytochrome b5 reductase deficiency 63
dihydrolipoyl dehydrogenase deficiency 50
lipoamide dehydrogenase deficiency 50
2-oxoglutarate complex deficiency 50
diaphorase deficiency 50


External Ids:

OMIM48 245349
ICD10 via Orphanet27 E74.4

Related Diseases for Lacticacidemia Due to Pdx1 Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Lacticacidemia Due to Pdx1 Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pyruvate dehydrogenase e3-binding protein deficiency10.8
2lactic acidosis10.4
3dihydrolipoamide dehydrogenase deficiency10.4
4maple syrup urine disease10.3
5hepatitis10.3
6liver disease10.3
7nadh cytochrome b5 reductase deficiency10.2
8methemoglobinemia, type i10.2
9congenital methemoglobinemia10.1
10methemoglobinemia10.1

Graphical network of diseases related to Lacticacidemia Due to Pdx1 Deficiency:



Diseases related to lacticacidemia due to pdx1 deficiency

Symptoms for Lacticacidemia Due to Pdx1 Deficiency

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48OMIM
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Symptoms by clinical synopsis from OMIM:

245349

Clinical features from OMIM:

245349

Drugs & Therapeutics for Lacticacidemia Due to Pdx1 Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Lacticacidemia Due to Pdx1 Deficiency

Search CenterWatch for Lacticacidemia Due to Pdx1 Deficiency

Genetic Tests for Lacticacidemia Due to Pdx1 Deficiency

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Anatomical Context for Lacticacidemia Due to Pdx1 Deficiency

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Animal Models for Lacticacidemia Due to Pdx1 Deficiency or affiliated genes

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Publications for Lacticacidemia Due to Pdx1 Deficiency

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Variations for Lacticacidemia Due to Pdx1 Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Lacticacidemia Due to Pdx1 Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1PDHXPDHX, 85-BP DEL, NT78deletionPathogenic/card/lacticacidemia_due_to_pdx1_deficiency
2PDHXPDHX, 59-BP DEL, NT965deletionPathogenic/card/lacticacidemia_due_to_pdx1_deficiency
3PDHXPDHX, 4-BP DEL, 125GAAGdeletionPathogenic/card/lacticacidemia_due_to_pdx1_deficiency
4PDHXPDHX, IVS5DS, G-Asingle nucleotide variantPathogenic/card/lacticacidemia_due_to_pdx1_deficiency
5PDHXPDHX, IVS8AS, G-A, -1single nucleotide variantPathogenic/card/lacticacidemia_due_to_pdx1_deficiency
6PDHXPDHX, 1-BP DEL, 620CdeletionPathogenic/card/lacticacidemia_due_to_pdx1_deficiency
7PDHXPDHX, 46-KB DELdeletionPathogenic/card/lacticacidemia_due_to_pdx1_deficiency
8PDHXNM_003477.2(PDHX): c.742C> T (p.Gln248Ter)single nucleotide variantPathogenicrs113309941GRCh37Chr 11, 34988287: 34988287
9PDHXPDHX, 3,913-BP DELdeletionPathogenic
10PDHXNM_003477.2(PDHX): c.44G> A (p.Arg15His)single nucleotide variantPathogenicrs387906998GRCh37Chr 11, 34938246: 34938246

Expression for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

Search GEO for disease gene expression data for Lacticacidemia Due to Pdx1 Deficiency.

Pathways for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

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Compounds for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

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46Novoseek
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Compounds related to Lacticacidemia Due to Pdx1 Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine469.1PDHX, PDX1
2pyruvate469.0PDHX, PDX1
3glucose468.8PDHX, PDX1

GO Terms for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

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Products for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lacticacidemia Due to Pdx1 Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet