PDHAD
MCID: PYR022
MIFTS: 38

Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHAD) malady

Neuronal diseases, Metabolic diseases, Fetal diseases categories

Summaries for Pyruvate Dehydrogenase E1-Alpha Deficiency

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46OMIM, 32MalaCards
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MalaCards: Pyruvate Dehydrogenase E1-Alpha Deficiency, also known as pyruvate dehydrogenase complex e1 component subunit alpha deficiency, is related to lactic acidosis and pyruvate decarboxylase deficiency. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pyruvate metabolism. The compounds lipoamide and dichloroacetate have been mentioned in the context of this disorder.

Description from OMIM:46 312170

Aliases & Classifications for Pyruvate Dehydrogenase E1-Alpha Deficiency

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20GeneTests, 22GTR, 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 e1-alpha deficiency:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

pyruvate dehydrogenase e1-alpha deficiency 20 22 46 48 60
pyruvate dehydrogenase complex e1 component subunit alpha deficiency 48
pyruvate dehydrogenase complex deficiency disease 60
pyruvate decarboxylase deficiency 48
pdhad 48


External Ids:

OMIM46 312170
ICD10 via Orphanet26 E74.4

Related Diseases for Pyruvate Dehydrogenase E1-Alpha Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Pyruvate Dehydrogenase E1-Alpha Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis30.7PDHA1
2pyruvate decarboxylase deficiency10.8
3pyruvate dehydrogenase phosphatase deficiency10.3
4pyruvate dehydrogenase e2 deficiency10.3
5pyruvate dehydrogenase e1-beta deficiency10.3
6dihydrolipoamide dehydrogenase deficiency10.3
7hypertrophy of breast10.0PDHA1, PDP1
8leigh disease10.0PDHA1, PDP1

Graphical network of diseases related to Pyruvate Dehydrogenase E1-Alpha Deficiency:



Diseases related to pyruvate dehydrogenase e1-alpha deficiency

Clinical Features for Pyruvate Dehydrogenase E1-Alpha Deficiency

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46OMIM
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Clinical features from OMIM:

312170

Clinical synopsis from OMIM:

312170

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

Search CenterWatch for Pyruvate Dehydrogenase E1-Alpha Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Pyruvate Dehydrogenase E1-Alpha Deficiency

Search CenterWatch for Pyruvate Dehydrogenase E1-Alpha Deficiency

Genetic Tests for Pyruvate Dehydrogenase E1-Alpha Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E1-Alpha Deficiency20 22 PDHA1

Anatomical Context for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Animal Models for Pyruvate Dehydrogenase E1-Alpha Deficiency or affiliated genes

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Publications for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Genetic Variations for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Pyruvate Dehydrogenase E1-Alpha Deficiency:

62 (show all 17)
id Symbol AA change Variation ID SNP ID
1PDHA1p.Arg72CysVAR_004949
2PDHA1p.His113AspVAR_004950
3PDHA1p.Gly162ArgVAR_004951
4PDHA1p.Val167MetVAR_004952
5PDHA1p.Ala199ThrVAR_004953
6PDHA1p.Met210ValVAR_004955
7PDHA1p.Pro217LeuVAR_004956
8PDHA1p.Thr231AlaVAR_004957
9PDHA1p.Arg263GlyVAR_004959rs28936081
10PDHA1p.Arg263GlnVAR_004960
11PDHA1p.His292LeuVAR_004961
12PDHA1p.Arg302CysVAR_004962
13PDHA1p.Arg302HisVAR_004963
14PDHA1p.Arg10ProVAR_010238
15PDHA1p.Tyr243AsnVAR_021053
16PDHA1p.Arg288HisVAR_021055
17PDHA1p.Asp315AsnVAR_021056rs28935187

Expression for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

Search GEO for disease gene expression data for Pyruvate Dehydrogenase E1-Alpha Deficiency.

Pathways for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1lipoamide44 2410.4PDHA1, PDP1
2dichloroacetate449.4PDHA1, PDP1
3acetyl-l-carnitine449.4PDHA1, PDP1
4thiamine pyrophosphate44 2410.4PDP1, PDHA1
5carnitine449.4PDHA1, PDP1
6citrate449.4PDHA1, PDP1
7acetyl-coa44 2410.3PDHA1, PDP1
8pyruvate449.3PDP1, PDHA1
9nadh44 11 2411.3PDHA1, PDP1
10glycogen44 2410.2PDHA1, PDP1
11lactate449.2PDHA1, PDP1
12adp44 28 2411.1PDP1, PDHA1
13glucose449.1PDHA1, PDP1
14oxygen44 2410.0PDHA1, PDP1
15atp44 289.8PDHA1, PDP1

GO Terms for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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16Gene Ontology
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Cellular components related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.1PDHA1, PDP1

Biological processes related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular metabolic processGO:0442379.1PDHA1, PDP1
2regulation of acetyl-CoA biosynthetic process from pyruvateGO:0105109.0PDHA1, PDP1
3pyruvate metabolic processGO:0060908.8PDHA1, PDP1

Products for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyruvate Dehydrogenase E1-Alpha 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