MCID: LCT005
MIFTS: 23

Lacticacidemia Due to Pdx1 Deficiency malady

Neuronal diseases, Metabolic diseases, Fetal diseases categories

Summaries for Lacticacidemia Due to Pdx1 Deficiency

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46OMIM, 32MalaCards
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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 nadh cytochrome b5 reductase deficiency. 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:46 245349

Aliases & Classifications for Lacticacidemia Due to Pdx1 Deficiency

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Sources:
46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
pyruvate dehydrogenase e3-binding protein deficiency 48 60
branched chain alpha-ketoacid dehydrogenase complex deficiency 48
pyruvate dehydrogenase complex component e3 deficiency 48
pyruvate dehydrogenase protein x component deficiency 48
glycine cleavage system l protein deficiency 48
nadh cytochrome b5 reductase deficiency 60
dihydrolipoyl dehydrogenase deficiency 48
lipoamide dehydrogenase deficiency 48
2-oxoglutarate complex deficiency 48
diaphorase deficiency 48


External Ids:

OMIM46 245349
ICD10 via Orphanet26 E74.4

Related Diseases for Lacticacidemia Due to Pdx1 Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Lacticacidemia Due to Pdx1 Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1pyruvate dehydrogenase e3-binding protein deficiency10.8
2nadh cytochrome b5 reductase deficiency10.7
3methemoglobinemia10.6
4methemoglobinemia, type i10.6
5congenital methemoglobinemia10.5
6lipoamide dehydrogenase deficiency10.5
7lactic acidosis10.4
8maple syrup urine disease10.2
9hepatitis a10.2
10hepatitis10.2
11liver disease10.2
12diabetes mellitus10.0PDX1
13insulinoma10.0PDX1
14pyruvate decarboxylase deficiency10.0PDHX

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



Diseases related to lacticacidemia due to pdx1 deficiency

Clinical Features for Lacticacidemia Due to Pdx1 Deficiency

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46OMIM
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Clinical features from OMIM:

245349

Clinical synopsis from OMIM:

245349

Drugs & Therapeutics for Lacticacidemia Due to Pdx1 Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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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Genetic Variations for Lacticacidemia Due to Pdx1 Deficiency

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Expression for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

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1BioGPS, 15Gene 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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44Novoseek
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Compounds related to Lacticacidemia Due to Pdx1 Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1serine449.1PDX1, PDHX
2pyruvate449.0PDX1, PDHX
3glucose448.8PDX1, PDHX

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet