MCID: PYR012
MIFTS: 20

Pyruvate Dehydrogenase E1-Beta Deficiency malady

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pyruvate Dehydrogenase E1-Beta Deficiency

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Aliases & Descriptions for Pyruvate Dehydrogenase E1-Beta Deficiency:

Name: Pyruvate Dehydrogenase E1-Beta Deficiency 50 23 52 68 25 12 66
Pdhbd 52 68
Pyruvate Dehydrogenase Complex E1 Component Subunit Beta Deficiency 52
 
Pyruvate Dehydrogenase E1 B Deficiency 23
Pyruvate Dehydrogenase Deficiency 68
Pdh Deficiency 68

Characteristics:

Orphanet epidemiological data:

52
pyruvate dehydrogenase e1-beta deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood

HPO:

62
pyruvate dehydrogenase e1-beta deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614111
Orphanet52 ORPHA255138
ICD10 via Orphanet29 E74.4
MeSH37 D015325

Summaries for Pyruvate Dehydrogenase E1-Beta Deficiency

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UniProtKB/Swiss-Prot:68 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 has symptoms including generalized hypotonia and lactic acidosis. An important gene associated with Pyruvate Dehydrogenase E1-Beta Deficiency is PDHB (Pyruvate Dehydrogenase (Lipoamide) Beta).

Description from OMIM:50 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 deficiency10.0

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 generalized hypotonia HP:0001290
2 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 Deficiency25 23 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:

68
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet