PDHBD
MCID: PYR012
MIFTS: 19

Pyruvate Dehydrogenase E1-Beta Deficiency (PDHBD) malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories
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Summaries for Pyruvate Dehydrogenase E1-Beta Deficiency

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Sources:
47OMIM, 33MalaCards
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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 dehydrogenase e1-alpha deficiency. An important gene associated with Pyruvate Dehydrogenase E1-Beta Deficiency is PDHB (pyruvate dehydrogenase (lipoamide) beta).

Description from OMIM:47 614111

Aliases & Classifications for Pyruvate Dehydrogenase E1-Beta Deficiency

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Sources:
62UMLS, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47 49 62
pyruvate dehydrogenase complex e1 component subunit beta deficiency 49
pyruvate dehydrogenase complex deficiency disease 62
pdhbd 49


External Ids:

OMIM47 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 dehydrogenase e1-alpha deficiency10.1

Symptoms for Pyruvate Dehydrogenase E1-Beta Deficiency

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Sources:
47OMIM
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Clinical features from OMIM:

614111

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Beta Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Pyruvate Dehydrogenase E1-Beta Deficiency

Search NIH Clinical Center 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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Variations for Pyruvate Dehydrogenase E1-Beta Deficiency

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pyruvate Dehydrogenase E1-Beta Deficiency:

64
id Symbol AA change Variation ID SNP ID
1PDHBp.Pro344SerVAR_021058rs28933391
2PDHBp.Tyr132CysVAR_030954rs28935769

Clinvar genetic disease variations for Pyruvate Dehydrogenase E1-Beta Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1PDHBNM_000925.3(PDHB): c.395A> G (p.Tyr132Cys)single nucleotide variantPathogenicrs28935769GRCh37Chr 3, 58416578: 58416578
2PDHBNM_000925.3(PDHB): c.1030C> T (p.Pro344Ser)single nucleotide variantPathogenicrs28933391GRCh37Chr 3, 58413811: 58413811

Expression for genes affiliated with Pyruvate Dehydrogenase E1-Beta Deficiency

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Sources:
2BioGPS, 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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet