PDHBD
MCID: PYR012
MIFTS: 23

Pyruvate Dehydrogenase E1-Beta Deficiency (PDHBD) malady

Neuronal diseases, Metabolic diseases, Fetal diseases categories

Summaries for Pyruvate Dehydrogenase E1-Beta Deficiency

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Sources:
46OMIM, 32MalaCards
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MalaCards: Pyruvate Dehydrogenase E1-Beta Deficiency, also known as pyruvate dehydrogenase complex e1 component subunit beta deficiency, is related to pyruvate decarboxylase deficiency and pyruvate dehydrogenase phosphatase deficiency. An important gene associated with Pyruvate Dehydrogenase E1-Beta Deficiency is PDHB (pyruvate dehydrogenase (lipoamide) beta).

Description from OMIM:46 614111

Aliases & Classifications for Pyruvate Dehydrogenase E1-Beta Deficiency

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Sources:
60UMLS, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 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-beta deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Child / adolescent


Aliases & Descriptions:

pyruvate dehydrogenase e1-beta deficiency 20 22 46 48 60
pyruvate dehydrogenase complex e1 component subunit beta deficiency 48
pyruvate dehydrogenase complex deficiency disease 60
pdhbd 48


External Ids:

OMIM46 614111
ICD10 via Orphanet26 E74.4

Related Diseases for Pyruvate Dehydrogenase E1-Beta Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1pyruvate decarboxylase deficiency10.5
2pyruvate dehydrogenase phosphatase deficiency10.3
3pyruvate dehydrogenase e2 deficiency10.3
4dihydrolipoamide dehydrogenase deficiency10.3
5pyruvate dehydrogenase e1-alpha deficiency10.0

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



Diseases related to pyruvate dehydrogenase e1-beta deficiency

Clinical Features for Pyruvate Dehydrogenase E1-Beta Deficiency

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46OMIM
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Clinical features from OMIM:

614111

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Beta Deficiency

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

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Drug clinical trials:

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Search NIH Clinical Center for Pyruvate Dehydrogenase E1-Beta Deficiency

Search CenterWatch for Pyruvate Dehydrogenase E1-Beta Deficiency

Genetic Tests for Pyruvate Dehydrogenase E1-Beta Deficiency

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

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E1-Beta Deficiency20 22 PDHB

Anatomical Context for Pyruvate Dehydrogenase E1-Beta Deficiency

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

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Publications for Pyruvate Dehydrogenase E1-Beta Deficiency

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Genetic Variations for Pyruvate Dehydrogenase E1-Beta Deficiency

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

62
id Symbol AA change Variation ID SNP ID
1PDHBp.Pro344SerVAR_021058rs28933391
2PDHBp.Tyr132CysVAR_030954rs28935769

Expression for genes affiliated with Pyruvate Dehydrogenase E1-Beta 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-Beta Deficiency

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

Pathways for genes affiliated with Pyruvate Dehydrogenase E1-Beta Deficiency

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Compounds for genes affiliated with Pyruvate Dehydrogenase E1-Beta Deficiency

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

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Products for genes affiliated with Pyruvate Dehydrogenase E1-Beta Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyruvate Dehydrogenase E1-Beta 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