MCID: PYR025
MIFTS: 20

Pyruvate Dehydrogenase E2 Deficiency malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Rare diseases categories
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Summaries for Pyruvate Dehydrogenase E2 Deficiency

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

Description from OMIM:46 245348

Aliases & Classifications for Pyruvate Dehydrogenase E2 Deficiency

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Pyruvate Dehydrogenase E2 Deficiency, Aliases & Descriptions:

Name: Pyruvate Dehydrogenase E2 Deficiency 20 22 46 48 62
Dihydrolipoyllysine-Residue Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 48
 
Dihydrolipoamide Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 48
Pyruvate Dehydrogenase Complex Component E2 Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
pyruvate dehydrogenase e2 deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Child / adolescent


External Ids:

OMIM46 245348
ICD10 via Orphanet26 E74.4

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 18)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 microcephaly HP:0000252
3 ptosis HP:0000508
4 nystagmus HP:0000639
5 oculomotor apraxia HP:0000657
6 ataxia HP:0001251
7 intellectual disability, mild HP:0001256
8 global developmental delay HP:0001263
9 choreoathetosis HP:0001266
10 neonatal hypotonia HP:0001319
11 hyperreflexia HP:0001347
12 delayed gross motor development HP:0002194
13 paroxysmal dystonia HP:0002268
14 drooling HP:0002307
15 poor speech HP:0002465
16 lactic acidosis HP:0003128
17 infantile onset HP:0003593
18 jerky head movements HP:0006961

Drugs & Therapeutics for Pyruvate Dehydrogenase E2 Deficiency

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Drug clinical trials:

Search ClinicalTrials for Pyruvate Dehydrogenase E2 Deficiency

Search 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 Deficiency20 22 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:

6
id Gene Name Type Significance SNP ID Assembly Location
1DLATDLAT, 3-BP DEL, 361GAAdeletionPathogenic
2DLATNM_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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Expression patterns in normal tissues for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

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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Compounds 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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Products for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Pyruvate Dehydrogenase E2 Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet