PDHBD
MCID: PYR012
MIFTS: 19

Pyruvate Dehydrogenase E1-Beta Deficiency (PDHBD) malady

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

Summaries for Pyruvate Dehydrogenase E1-Beta Deficiency

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 614111

Aliases & Classifications for Pyruvate Dehydrogenase E1-Beta Deficiency

About this section
Sources:
63UMLS, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 27ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

50
pyruvate dehydrogenase e1-beta deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Child / adolescent


Aliases & Descriptions:

pyruvate dehydrogenase e1-beta deficiency 21 23 48 50 63
pyruvate dehydrogenase complex e1 component subunit beta deficiency 50
pyruvate dehydrogenase complex deficiency disease 63
pdhbd 50


External Ids:

OMIM48 614111
ICD10 via Orphanet27 E74.4

Related Diseases for Pyruvate Dehydrogenase E1-Beta Deficiency

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

614111

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Beta Deficiency

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Pyruvate Dehydrogenase E1-Beta Deficiency

Drug clinical trials:

Search ClinicalTrials for Pyruvate Dehydrogenase E1-Beta Deficiency

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Pyruvate Dehydrogenase E1-Beta Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E1-Beta Deficiency21 23 PDHB

Anatomical Context for Pyruvate Dehydrogenase E1-Beta Deficiency

About this section

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

About this section

Publications for Pyruvate Dehydrogenase E1-Beta Deficiency

About this section

Variations for Pyruvate Dehydrogenase E1-Beta Deficiency

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Pyruvate Dehydrogenase E1-Beta Deficiency

About this section

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

About this section

Products for genes affiliated with Pyruvate Dehydrogenase E1-Beta Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyruvate Dehydrogenase E1-Beta Deficiency

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet