MCID: PYR012
MIFTS: 19

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 52 24 54 70 27 12 68
Pdhbd 54 70
Pyruvate Dehydrogenase Complex E1 Component Subunit Beta Deficiency 54
Pyruvate Dehydrogenase Complex Deficiency Disease 68
 
Pyruvate Dehydrogenase E1 B Deficiency 24
Pyruvate Dehydrogenase Deficiency 70
Pdh Deficiency 70

Characteristics:

Orphanet epidemiological data:

54
pyruvate dehydrogenase e1-beta deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood

HPO:

64
pyruvate dehydrogenase e1-beta deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 614111
Orphanet54 ORPHA255138
ICD10 via Orphanet31 E74.4
MeSH39 D015325

Summaries for Pyruvate Dehydrogenase E1-Beta Deficiency

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UniProtKB/Swiss-Prot:70 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:52 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 deficiency10.9

Symptoms & Phenotypes for Pyruvate Dehydrogenase E1-Beta Deficiency

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Clinical features from OMIM:

614111

Human phenotypes related to Pyruvate Dehydrogenase E1-Beta Deficiency:

 64
id Description HPO Frequency HPO Source Accession
1 generalized hypotonia64 HP:0001290
2 lactic acidosis64 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 Deficiency27 24 PDHB

Anatomical Context for Pyruvate Dehydrogenase E1-Beta Deficiency

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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:

70
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)SNVPathogenicrs28935769GRCh37Chr 3, 58416578: 58416578
2PDHBNM_000925.3(PDHB): c.1030C> T (p.Pro344Ser)SNVPathogenicrs28933391GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet