MCID: PYR012
MIFTS: 25

Pyruvate Dehydrogenase E1-Beta Deficiency malady

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

Aliases & Classifications for Pyruvate Dehydrogenase E1-Beta Deficiency

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Sources:
49OMIM, 11diseasecard, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Pyruvate Dehydrogenase E1-Beta Deficiency:

Name: Pyruvate Dehydrogenase E1-Beta Deficiency 49 11 22 51 24 65 67
Pdhbd 51 67
Pyruvate Dehydrogenase Complex E1 Component Subunit Beta Deficiency 51
 
Pyruvate Dehydrogenase E1 B Deficiency 22
Pyruvate Dehydrogenase Deficiency 67
Pdh Deficiency 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
pyruvate dehydrogenase e1-beta deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood


External Ids:

OMIM49 614111
Orphanet51 255138
ICD10 via Orphanet28 E74.4
MeSH36 D015325

Summaries for Pyruvate Dehydrogenase E1-Beta Deficiency

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UniProtKB/Swiss-Prot:67 Pyruvate dehydrogenase E1-beta deficiency: An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis.

MalaCards based summary: Pyruvate Dehydrogenase E1-Beta Deficiency, also known as pdhbd, is related to pyruvate dehydrogenase e1-alpha deficiency and leigh syndrome, 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:49 614111

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 deficiency10.8
2leigh syndrome10.2
3pyruvate dehydrogenase e2 deficiency10.2
4periventricular leukomalacia10.2
5cerebritis10.2
6dystonia10.2
7spinocerebellar degeneration10.2
8leukomalacia10.2
9ataxia10.2

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



Diseases related to pyruvate dehydrogenase e1-beta deficiency

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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Interventional clinical trials:

Search ClinicalTrials, 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 Deficiency22 24 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:

67
id Symbol AA change Variation ID SNP ID
1PDHBp.Pro344SerVAR_021058rs28933391
2PDHBp.Tyr132CysVAR_030954rs28935769

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

5
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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GO Terms for genes affiliated with Pyruvate Dehydrogenase E1-Beta Deficiency

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Sources for Pyruvate Dehydrogenase E1-Beta Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet