MCID: PYR025
MIFTS: 21

Pyruvate Dehydrogenase E2 Deficiency malady

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

Aliases & Classifications for Pyruvate Dehydrogenase E2 Deficiency

About this section

Aliases & Descriptions for Pyruvate Dehydrogenase E2 Deficiency:

Name: Pyruvate Dehydrogenase E2 Deficiency 50 23 52 68 25 12 66
Dihydrolipoyllysine-Residue Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 52
Lactic Acidemia Due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex 68
Dihydrolipoamide Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 52
 
Pyruvate Dehydrogenase Complex Component E2 Deficiency 52
Dihydrolipoamide Acetyltransferase Deficiency 23
Pdhe2 Deficiency 68

Characteristics:

Orphanet epidemiological data:

52
pyruvate dehydrogenase e2 deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood

HPO:

62
pyruvate dehydrogenase e2 deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 245348
Orphanet52 ORPHA79244
ICD10 via Orphanet29 E74.4
MedGen35 C1855565

Summaries for Pyruvate Dehydrogenase E2 Deficiency

About this section
UniProtKB/Swiss-Prot:68 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 ataxia, ataxia and drooling. An important gene associated with Pyruvate Dehydrogenase E2 Deficiency is DLAT (Dihydrolipoamide S-Acetyltransferase).

Description from OMIM:50 245348

Related Diseases for Pyruvate Dehydrogenase E2 Deficiency

About this section

Symptoms for Pyruvate Dehydrogenase E2 Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

245348

Clinical features from OMIM:

245348

HPO human phenotypes related to Pyruvate Dehydrogenase E2 Deficiency:

(show all 16)
id Description Frequency HPO Source Accession
1 microcephaly HP:0000252
2 ptosis HP:0000508
3 nystagmus HP:0000639
4 oculomotor apraxia HP:0000657
5 ataxia HP:0001251
6 intellectual disability, mild HP:0001256
7 global developmental delay HP:0001263
8 choreoathetosis HP:0001266
9 neonatal hypotonia HP:0001319
10 hyperreflexia HP:0001347
11 delayed gross motor development HP:0002194
12 paroxysmal dystonia HP:0002268
13 drooling HP:0002307
14 poor speech HP:0002465
15 lactic acidosis HP:0003128
16 jerky head movements HP:0006961

UMLS symptoms related to Pyruvate Dehydrogenase E2 Deficiency:


ataxia, drooling, dystonia, paroxysmal

Drugs & Therapeutics for Pyruvate Dehydrogenase E2 Deficiency

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pyruvate Dehydrogenase E2 Deficiency

Genetic Tests for Pyruvate Dehydrogenase E2 Deficiency

About this section

Genetic tests related to Pyruvate Dehydrogenase E2 Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E2 Deficiency25 23 DLAT

Anatomical Context for Pyruvate Dehydrogenase E2 Deficiency

About this section

Animal Models for Pyruvate Dehydrogenase E2 Deficiency or affiliated genes

About this section

Publications for Pyruvate Dehydrogenase E2 Deficiency

About this section

Variations for Pyruvate Dehydrogenase E2 Deficiency

About this section

Clinvar genetic disease variations for Pyruvate Dehydrogenase E2 Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DLATDLAT, 3-BP DEL, 361GAAdeletionPathogenic
2NM_001931.4(DLAT): c.1728C> A (p.Phe576Leu)single nucleotide variantPathogenicrs119103240GRCh37Chr 11, 111931812: 111931812

Expression for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

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

Pathways for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

About this section

GO Terms for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

About this section

Sources for Pyruvate Dehydrogenase E2 Deficiency

About this section
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