MCID: PYR025
MIFTS: 20

Pyruvate Dehydrogenase E2 Deficiency malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Pyruvate Dehydrogenase E2 Deficiency

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Pyruvate Dehydrogenase E2 Deficiency, Aliases & Descriptions:

Name: Pyruvate Dehydrogenase E2 Deficiency 45 10 20 47 22 60
Dihydrolipoyllysine-Residue Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 47
 
Dihydrolipoamide Acetyltransferase Component of Pyruvate Dehydrogenase Complex Deficiency 47
Pyruvate Dehydrogenase Complex Component E2 Deficiency 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
pyruvate dehydrogenase e2 deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood


External Ids:

OMIM45 245348
Orphanet47 79244
ICD10 via Orphanet26 E74.4

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 autosomal recessive inheritance, microcephaly and ptosis. An important gene associated with Pyruvate Dehydrogenase E2 Deficiency is DLAT (dihydrolipoamide S-acetyltransferase).

Description from OMIM:45 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 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 Variation 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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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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pyruvate Dehydrogenase E2 Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet