PDH
MCID: PYR025
MIFTS: 35

Pyruvate Dehydrogenase E2 Deficiency (PDH) malady

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

Summaries for Pyruvate Dehydrogenase E2 Deficiency

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48OMIM, 34MalaCards
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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:48 245348, 245349, 246900, 312170, 608782 614111 more

Aliases & Classifications for Pyruvate Dehydrogenase E2 Deficiency

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Sources:
21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS 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):

50
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 21 23 48 50 63
dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency 50
dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency 50
pyruvate dehydrogenase complex component e2 deficiency 50
pyruvate dehydrogenase complex deficiency disease 63
pyruvate dehydrogenase complex deficiency 50
pyruvate dehydrogenase deficiency 50
pdhc 50
pdh 50


External Ids:

MESH via Orphanet37 C536257, D015325
ICD10 via Orphanet27 E74.4
SNOMED-CT via Orphanet60 46683007
UMLS via Orphanet64 C0034345, C2936911

Related Diseases for Pyruvate Dehydrogenase E2 Deficiency

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Sources:
18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

245348

Clinical features from OMIM:

245348,245349,246900,312170,608782,614111

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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:
21GeneTests, 23GTR
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Genetic tests related to Pyruvate Dehydrogenase E2 Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E2 Deficiency21 23 DLAT

Anatomical Context for Pyruvate Dehydrogenase E2 Deficiency

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Sources:
34MalaCards
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MalaCards organs/tissues related to Pyruvate Dehydrogenase E2 Deficiency:

34
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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet