MCID: PYR025
MIFTS: 19

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 49 11 22 51 67 24 65
Dihydrolipoyllysine-Residue Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 51
Lactic Acidemia Due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex 67
Dihydrolipoamide Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 51
 
Pyruvate Dehydrogenase Complex Component E2 Deficiency 51
Dihydrolipoamide Acetyltransferase Deficiency 22
Pdhe2 Deficiency 67

Characteristics:

Orphanet epidemiological data:

51
pyruvate dehydrogenase e2 deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood

HPO:

61
pyruvate dehydrogenase e2 deficiency:
Onset and clinical course: infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 245348
Orphanet51 79244
ICD10 via Orphanet28 E74.4
MedGen34 C1855565
UMLS65 C1855565

Summaries for Pyruvate Dehydrogenase E2 Deficiency

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UniProtKB/Swiss-Prot:67 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 jerky head movements, lactic acidosis and poor speech. An important gene associated with Pyruvate Dehydrogenase E2 Deficiency is DLAT (Dihydrolipoamide S-Acetyltransferase).

Description from OMIM:49 245348

Related Diseases for Pyruvate Dehydrogenase E2 Deficiency

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Symptoms for Pyruvate Dehydrogenase E2 Deficiency

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

UMLS symptoms related to Pyruvate Dehydrogenase E2 Deficiency:


dystonia, paroxysmal, drooling, ataxia

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 Deficiency22 DLAT

Anatomical Context for Pyruvate Dehydrogenase E2 Deficiency

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Animal Models for Pyruvate Dehydrogenase E2 Deficiency or affiliated genes

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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, 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

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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
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