PDH
MCID: PYR025
MIFTS: 29

Pyruvate Dehydrogenase E2 Deficiency (PDH) malady

Neuronal, Metabolic, Fetal categories

Summaries for Pyruvate Dehydrogenase E2 Deficiency

Sources:
47OMIM, 33MalaCards
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MalaCards: Pyruvate Dehydrogenase E2 Deficiency, also known as dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency, is related to protein c deficiency and pyruvate decarboxylase deficiency, and has symptoms including facial dysmorphism, feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia and motor deficit/trouble. An important gene associated with Pyruvate Dehydrogenase E2 Deficiency is DLAT (dihydrolipoamide S-acetyltransferase).

Description from OMIM:47 245348, 245349, 246900, 312170, 608782 614111 more

Aliases & Classifications for Pyruvate Dehydrogenase E2 Deficiency

Sources:
61UMLS, 49Orphanet, 20GeneTests, 22GTR, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Metabolic


Characteristics (Orphanet epidemiological data):

49
pyruvate dehydrogenase complex deficiency:
Inheritance: Autosomal recessive,Sporadic,X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Child / adolescent
pyruvate dehydrogenase e2 deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Child / adolescent


Aliases & Descriptions:

pyruvate dehydrogenase e2 deficiency 20 22 47 49 61
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency 49
dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency 49
pyruvate dehydrogenase complex component e2 deficiency 49
pyruvate dehydrogenase complex deficiency disease 61
pyruvate dehydrogenase complex deficiency 49
pyruvate dehydrogenase deficiency 49
pdhc 49
pdh 49


External Ids:

MESH via Orphanet36 C536257, D015325
ICD10 via Orphanet26 E74.4
SNOMED-CT via Orphanet58 46683007
UMLS via Orphanet62 C0034345, C2936911

Related Diseases for Pyruvate Dehydrogenase E2 Deficiency

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Pyruvate Dehydrogenase E2 Deficiency:



Diseases related to pyruvate dehydrogenase e2 deficiency

Clinical Features for Pyruvate Dehydrogenase E2 Deficiency

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

245348,245349,246900,312170,608782,614111

Clinical synopsis from OMIM:

245348

Symptoms:

49 (show all 38)
  • facial dysmorphism
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • motor deficit/trouble
  • hypotonia
  • obnubilation/coma/lethargia/desorientation
  • autosomal recessive inheritance
  • x-linked dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • abnormal eye movements/oculomotor disorder
  • respiratory rhythm disorder
  • corpus callosum/septum pellucidum total/partial agenesis
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • tremor
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • pyramidal syndrome
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • elocution disorders/dysarthria/dysphonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • intrauterine growth retardation
  • trigonocephaly
  • frontal bossing/prominent forehead
  • narrow face
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • epicanthic folds
  • broad nose/nasal bridge
  • long philtrum
  • high vaulted/narrow palate
  • pectus excavatum
  • xanthomas/lipomas
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • dilated cerebral ventricles without hydrocephaly
  • dystonia/torticollis/writer's cramp/blepharospasms
  • acute palsy
  • early death/lethality

Drugs & Therapeutics for Pyruvate Dehydrogenase E2 Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Pyruvate Dehydrogenase E2 Deficiency

Drug clinical trials:

Search ClinicalTrials for Pyruvate Dehydrogenase E2 Deficiency

Search NIH Clinical Center for Pyruvate Dehydrogenase E2 Deficiency

Search CenterWatch for Pyruvate Dehydrogenase E2 Deficiency

Genetic Tests for Pyruvate Dehydrogenase E2 Deficiency

Sources:
20GeneTests, 22GTR
See all sources

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

Animal Models for Pyruvate Dehydrogenase E2 Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Pyruvate Dehydrogenase E2 Deficiency

Genetic Variations for Pyruvate Dehydrogenase E2 Deficiency

Expression for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Compounds for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

GO Terms for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

Products for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyruvate Dehydrogenase E2 Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet