MCID: LCT005
MIFTS: 23

Lacticacidemia Due to Pdx1 Deficiency malady

Neuronal diseases, Metabolic diseases, Fetal diseases, Rare diseases categories
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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 pyruvate dehydrogenase e3-binding protein deficiency and dihydrolipoamide dehydrogenase deficiency, and has symptoms including 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, 62UMLS, 26ICD10 via Orphanet
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Lacticacidemia Due to Pdx1 Deficiency, Aliases & Descriptions:

Name: Lacticacidemia Due to Pdx1 Deficiency 46
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 48 62
Dihydrolipoyl Dehydrogenase Deficiency 48 62
Lipoamide Dehydrogenase Deficiency 48 62
Diaphorase Deficiency 48 62
 
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
2-Oxoglutarate Complex Deficiency 48


Classifications:

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


External Ids:

OMIM46 245349
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/GeneDecks gene sharing:

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

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:

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Search NIH Clinical Center 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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Clinvar genetic disease variations for Lacticacidemia Due to Pdx1 Deficiency:

6
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

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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:
44Novoseek
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Compounds related to Lacticacidemia Due to Pdx1 Deficiency according to GeneCards/GeneDecks:

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet