MCID: LCT005
MIFTS: 29

Lacticacidemia Due to Pdx1 Deficiency malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Rare diseases categories

Summaries for Lacticacidemia Due to Pdx1 Deficiency

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MalaCards based summary: Lacticacidemia Due to Pdx1 Deficiency, also known as pyruvate dehydrogenase e3-binding protein deficiency, is related to dihydrolipoamide dehydrogenase deficiency and lactic acidosis, and has symptoms including autosomal recessive inheritance, high palate and trigonocephaly. 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. Affiliated tissues include eye.

Description from OMIM:45 245349

Aliases & Classifications for Lacticacidemia Due to Pdx1 Deficiency

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Lacticacidemia Due to Pdx1 Deficiency, Aliases & Descriptions:

Name: Lacticacidemia Due to Pdx1 Deficiency 45 10
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 45 20 47 22 60
Branched Chain Alpha-Ketoacid Dehydrogenase Complex Deficiency 47
Pyruvate Dehydrogenase Complex Component E3 Deficiency 47
Pyruvate Dehydrogenase Protein X Component Deficiency 47
Glycine Cleavage System L Protein Deficiency 47
 
Nadh Cytochrome B5 Reductase Deficiency 60
Dihydrolipoyl Dehydrogenase Deficiency 47
Lipoamide Dehydrogenase Deficiency 47
2-Oxoglutarate Complex Deficiency 47
Diaphorase Deficiency 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
pyruvate dehydrogenase e3-binding protein deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood


External Ids:

OMIM45 245349
Orphanet47 255182
ICD10 via Orphanet26 E74.4

Related Diseases for Lacticacidemia Due to Pdx1 Deficiency

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Diseases related to Lacticacidemia Due to Pdx1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dihydrolipoamide dehydrogenase deficiency10.6
2lactic acidosis10.4
3hepatitis10.3
4liver disease10.3
5methemoglobinemia, type i10.3
6congenital methemoglobinemia10.3
7methemoglobinemia10.3
8recessive hereditary methemoglobinemia type 110.1
9recessive hereditary methemoglobinemia type 210.1

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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Symptoms by clinical synopsis from OMIM:

245349

Clinical features from OMIM:

245349

HPO human phenotypes related to Lacticacidemia Due to Pdx1 Deficiency:

(show all 29)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 high palate HP:0000218
3 trigonocephaly HP:0000243
4 microcephaly HP:0000252
5 epicanthus HP:0000286
6 hypertelorism HP:0000316
7 abnormality of eye movement HP:0000496
8 optic atrophy HP:0000648
9 pectus excavatum HP:0000767
10 intellectual disability HP:0001249
11 seizures HP:0001250
12 ataxia HP:0001251
13 spastic paraplegia HP:0001258
14 global developmental delay HP:0001263
15 neonatal hypotonia HP:0001319
16 dystonia HP:0001332
17 partial agenesis of the corpus callosum HP:0001338
18 metabolic acidosis HP:0001942
19 unsteady gait HP:0002317
20 subependymal cysts HP:0002416
21 spastic tetraplegia HP:0002510
22 decreased activity of the pyruvate dehydrogenase (pdh) complex HP:0002928
23 lactic acidosis HP:0003128
24 hyperalaninemia HP:0003348
25 increased serum pyruvate HP:0003542
26 congenital onset HP:0003577
27 variable expressivity HP:0003828
28 poor fine motor coordination HP:0007010
29 poor gross motor coordination HP:0007015

Drugs & Therapeutics for Lacticacidemia Due to Pdx1 Deficiency

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Drug clinical trials:

Search ClinicalTrials for Lacticacidemia Due to Pdx1 Deficiency

Search NIH Clinical Center for Lacticacidemia Due to Pdx1 Deficiency

Genetic Tests for Lacticacidemia Due to Pdx1 Deficiency

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Genetic tests related to Lacticacidemia Due to Pdx1 Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E3-Binding Protein Deficiency20 22 PDHX

Anatomical Context for Lacticacidemia Due to Pdx1 Deficiency

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MalaCards organs/tissues related to Lacticacidemia Due to Pdx1 Deficiency:

31
Eye

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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Clinvar genetic disease variations for Lacticacidemia Due to Pdx1 Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PDHXPDHX, 85-BP DEL, NT78deletionPathogenic
2PDHXPDHX, 59-BP DEL, NT965deletionPathogenic
3PDHXPDHX, 4-BP DEL, 125GAAGdeletionPathogenic
4PDHXPDHX, IVS5DS, G-Asingle nucleotide variantPathogenic
5PDHXPDHX, IVS8AS, G-A, -1single nucleotide variantPathogenic
6PDHXPDHX, 1-BP DEL, 620CdeletionPathogenic
7PDHXPDHX, 46-KB DELdeletionPathogenic
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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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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Sources:
43Novoseek
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Compounds related to Lacticacidemia Due to Pdx1 Deficiency according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1serine439.1PDHX, PDX1
2pyruvate439.0PDHX, PDX1
3glucose438.8PDHX, 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
  • Proteins
  • Kits and Assays

Sources for Lacticacidemia Due to Pdx1 Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet