PDH
MCID: PYR025
MIFTS: 35

Pyruvate Dehydrogenase E2 Deficiency (PDH) malady

Neuronal diseases, Metabolic diseases, Fetal diseases categories

Summaries for Pyruvate Dehydrogenase E2 Deficiency

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46OMIM, 32MalaCards
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MalaCards: Pyruvate Dehydrogenase E2 Deficiency, also known as dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency, is related to pyruvate decarboxylase deficiency and west syndrome, and has symptoms including epicanthic folds, upslanted palpebral fissures/mongoloid slanting palpebral fissures and hypertelorism. An important gene associated with Pyruvate Dehydrogenase E2 Deficiency is DLAT (dihydrolipoamide S-acetyltransferase). Affiliated tissues include lung and eye.

Description from OMIM:46 245348, 245349, 246900, 312170, 608782 614111 more

Aliases & Classifications for Pyruvate Dehydrogenase E2 Deficiency

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46 48 60
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
pyruvate dehydrogenase complex deficiency disease 60
pyruvate dehydrogenase complex deficiency 48
pyruvate dehydrogenase deficiency 48
pdhc 48
pdh 48


External Ids:

MESH via Orphanet35 C536257, D015325
ICD10 via Orphanet26 E74.4
SNOMED-CT via Orphanet57 46683007
UMLS via Orphanet61 C0034345, C2936911

Related Diseases for Pyruvate Dehydrogenase E2 Deficiency

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



Diseases related to pyruvate dehydrogenase e2 deficiency

Clinical Features for Pyruvate Dehydrogenase E2 Deficiency

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

245348,245349,246900,312170,608782,614111

Clinical synopsis from OMIM:

245348

Symptoms:

48 (show all 38)
  • epicanthic folds
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • hypertelorism
  • narrow face
  • frontal bossing/prominent forehead
  • trigonocephaly
  • intrauterine growth retardation
  • 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
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • elocution disorders/dysarthria/dysphonia
  • microcephaly
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • x-linked dominant inheritance
  • autosomal recessive inheritance
  • obnubilation/coma/lethargia/desorientation
  • hypotonia
  • motor deficit/trouble
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • abnormal eye movements/oculomotor disorder
  • respiratory rhythm disorder
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypertonia/spasticity/rigidity/stiffness
  • pyramidal syndrome
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • tremor
  • ataxia/incoordination/trouble of the equilibrium
  • abnormal gait
  • corpus callosum/septum pellucidum total/partial agenesis
  • facial dysmorphism

Drugs & Therapeutics for Pyruvate Dehydrogenase E2 Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Sources:
20GeneTests, 22GTR
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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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Sources:
32MalaCards
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MalaCards organs/tissues related to Pyruvate Dehydrogenase E2 Deficiency:

32
Lung, Eye

Animal Models for Pyruvate Dehydrogenase E2 Deficiency or affiliated genes

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Publications for Pyruvate Dehydrogenase E2 Deficiency

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Genetic Variations for Pyruvate Dehydrogenase E2 Deficiency

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Expression for genes affiliated with Pyruvate Dehydrogenase E2 Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet