PDH
MCID: PYR025
MIFTS: 35

Pyruvate Dehydrogenase E2 Deficiency (PDH) malady

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

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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 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:47 245348, 245349, 246900, 312170, 608782 614111 more

Aliases & Classifications for Pyruvate Dehydrogenase E2 Deficiency

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Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


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 62
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 62
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 Orphanet59 46683007
UMLS via Orphanet63 C0034345, C2936911

Related Diseases for Pyruvate Dehydrogenase E2 Deficiency

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



Diseases related to pyruvate dehydrogenase e2 deficiency

Symptoms for Pyruvate Dehydrogenase E2 Deficiency

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

245348

Clinical features from OMIM:

245348,245349,246900,312170,608782,614111

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials
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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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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:
33MalaCards
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MalaCards organs/tissues related to Pyruvate Dehydrogenase E2 Deficiency:

33
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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Variations for Pyruvate Dehydrogenase E2 Deficiency

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Pyruvate Dehydrogenase E2 Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1DLATNM_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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Sources:
2BioGPS, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet