MCID: PYR012
MIFTS: 18

Pyruvate Dehydrogenase E1-Beta Deficiency malady

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

Summaries for Pyruvate Dehydrogenase E1-Beta Deficiency

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MalaCards based summary: Pyruvate Dehydrogenase E1-Beta Deficiency, also known as pyruvate dehydrogenase complex e1 component subunit beta deficiency, is related to pyruvate dehydrogenase e1-alpha deficiency, and has symptoms including autosomal recessive inheritance, generalized hypotonia and lactic acidosis. An important gene associated with Pyruvate Dehydrogenase E1-Beta Deficiency is PDHB (pyruvate dehydrogenase (lipoamide) beta).

Description from OMIM:45 614111

Aliases & Classifications for Pyruvate Dehydrogenase E1-Beta Deficiency

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

Pyruvate Dehydrogenase E1-Beta Deficiency, Aliases & Descriptions:

Name: Pyruvate Dehydrogenase E1-Beta Deficiency 45 10 20 47 22 60
Pyruvate Dehydrogenase Complex E1 Component Subunit Beta Deficiency 47
 
Pdhbd 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
pyruvate dehydrogenase e1-beta deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood


External Ids:

OMIM45 614111
Orphanet47 255138
ICD10 via Orphanet26 E74.4

Related Diseases for Pyruvate Dehydrogenase E1-Beta Deficiency

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Diseases related to Pyruvate Dehydrogenase E1-Beta Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pyruvate dehydrogenase e1-alpha deficiency10.1

Symptoms for Pyruvate Dehydrogenase E1-Beta Deficiency

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Clinical features from OMIM:

614111

HPO human phenotypes related to Pyruvate Dehydrogenase E1-Beta Deficiency:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 generalized hypotonia HP:0001290
3 lactic acidosis HP:0003128

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Beta Deficiency

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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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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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UniProtKB/Swiss-Prot genetic disease variations for Pyruvate Dehydrogenase E1-Beta Deficiency:

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

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

6
id Gene Variation 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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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
  • Proteins
  • Kits and Assays

Sources for Pyruvate Dehydrogenase E1-Beta 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