MCID: PYR025
MIFTS: 20

Pyruvate Dehydrogenase E2 Deficiency malady

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

Aliases & Classifications for Pyruvate Dehydrogenase E2 Deficiency

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Aliases & Descriptions for Pyruvate Dehydrogenase E2 Deficiency:

Name: Pyruvate Dehydrogenase E2 Deficiency 52 24 54 70 27 12 68
Dihydrolipoyllysine-Residue Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 54
Lactic Acidemia Due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex 70
Dihydrolipoamide Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 54
 
Pyruvate Dehydrogenase Complex Component E2 Deficiency 54
Dihydrolipoamide Acetyltransferase Deficiency 24
Pdhe2 Deficiency 70

Characteristics:

Orphanet epidemiological data:

54
pyruvate dehydrogenase e2 deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood

HPO:

64
pyruvate dehydrogenase e2 deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 245348
Orphanet54 ORPHA79244
ICD10 via Orphanet31 E74.4
MedGen37 C1855565

Summaries for Pyruvate Dehydrogenase E2 Deficiency

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UniProtKB/Swiss-Prot:70 Pyruvate dehydrogenase E2 deficiency: Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent.

MalaCards based summary: Pyruvate Dehydrogenase E2 Deficiency, is also known as dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency, and has symptoms including microcephaly, ptosis and nystagmus. An important gene associated with Pyruvate Dehydrogenase E2 Deficiency is DLAT (Dihydrolipoamide S-Acetyltransferase).

Description from OMIM:52 245348

Related Diseases for Pyruvate Dehydrogenase E2 Deficiency

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Symptoms & Phenotypes for Pyruvate Dehydrogenase E2 Deficiency

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Symptoms by clinical synopsis from OMIM:

245348

Clinical features from OMIM:

245348

Human phenotypes related to Pyruvate Dehydrogenase E2 Deficiency:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 microcephaly64 HP:0000252
2 ptosis64 HP:0000508
3 nystagmus64 HP:0000639
4 oculomotor apraxia64 HP:0000657
5 ataxia64 HP:0001251
6 intellectual disability, mild64 HP:0001256
7 global developmental delay64 HP:0001263
8 choreoathetosis64 HP:0001266
9 neonatal hypotonia64 HP:0001319
10 hyperreflexia64 HP:0001347
11 delayed gross motor development64 HP:0002194
12 paroxysmal dystonia64 HP:0002268
13 drooling64 HP:0002307
14 poor speech64 HP:0002465
15 lactic acidosis64 HP:0003128
16 jerky head movements64 HP:0006961

UMLS symptoms related to Pyruvate Dehydrogenase E2 Deficiency:


ataxia, drooling, dystonia, paroxysmal

Drugs & Therapeutics for Pyruvate Dehydrogenase E2 Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pyruvate Dehydrogenase E2 Deficiency

Genetic Tests for Pyruvate Dehydrogenase E2 Deficiency

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Genetic tests related to Pyruvate Dehydrogenase E2 Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E2 Deficiency27 24 DLAT

Anatomical Context for Pyruvate Dehydrogenase E2 Deficiency

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Publications for Pyruvate Dehydrogenase E2 Deficiency

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Variations for Pyruvate Dehydrogenase E2 Deficiency

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Clinvar genetic disease variations for Pyruvate Dehydrogenase E2 Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DLATDLAT, 3-BP DEL, 361GAAdeletionPathogenicChr na, -1: -1
2DLATNM_001931.4(DLAT): c.1728C> A (p.Phe576Leu)SNVPathogenicrs119103240GRCh37Chr 11, 111931812: 111931812

Expression for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

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Search GEO for disease gene expression data for Pyruvate Dehydrogenase E2 Deficiency.

Pathways for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

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GO Terms for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

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Sources for Pyruvate Dehydrogenase E2 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