PDHAD
MCID: PYR022
MIFTS: 24

Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHAD) malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases categories
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Summaries for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
47OMIM, 33MalaCards
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MalaCards: Pyruvate Dehydrogenase E1-Alpha Deficiency, also known as pyruvate dehydrogenase complex e1 component subunit alpha deficiency, is related to pyruvate decarboxylase deficiency and lactic acidosis. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1).

Description from OMIM:47 312170

Aliases & Classifications for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
49Orphanet, 62UMLS, 20GeneTests, 22GTR, 47OMIM, 26ICD10 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 e1-alpha deficiency:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

pyruvate dehydrogenase e1-alpha deficiency 20 22 47 49 62
pyruvate dehydrogenase complex e1 component subunit alpha deficiency 49
pyruvate dehydrogenase complex deficiency disease 62
pyruvate decarboxylase deficiency 49
pdhad 49


External Ids:

OMIM47 312170
ICD10 via Orphanet26 E74.4

Related Diseases for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Pyruvate Dehydrogenase E1-Alpha Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pyruvate decarboxylase deficiency10.8
2lactic acidosis10.5
3ataxia10.2

Symptoms for Pyruvate Dehydrogenase E1-Alpha Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

312170

Clinical features from OMIM:

312170

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Pyruvate Dehydrogenase E1-Alpha Deficiency

Genetic Tests for Pyruvate Dehydrogenase E1-Alpha Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E1-Alpha Deficiency20 22 PDHA1

Anatomical Context for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Animal Models for Pyruvate Dehydrogenase E1-Alpha Deficiency or affiliated genes

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Publications for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Variations for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pyruvate Dehydrogenase E1-Alpha Deficiency:

64 (show all 17)
id Symbol AA change Variation ID SNP ID
1PDHA1p.Arg72CysVAR_004949
2PDHA1p.His113AspVAR_004950
3PDHA1p.Gly162ArgVAR_004951
4PDHA1p.Val167MetVAR_004952
5PDHA1p.Ala199ThrVAR_004953
6PDHA1p.Met210ValVAR_004955
7PDHA1p.Pro217LeuVAR_004956
8PDHA1p.Thr231AlaVAR_004957
9PDHA1p.Arg263GlyVAR_004959rs28936081
10PDHA1p.Arg263GlnVAR_004960
11PDHA1p.His292LeuVAR_004961
12PDHA1p.Arg302CysVAR_004962
13PDHA1p.Arg302HisVAR_004963
14PDHA1p.Arg10ProVAR_010238
15PDHA1p.Tyr243AsnVAR_021053
16PDHA1p.Arg288HisVAR_021055
17PDHA1p.Asp315AsnVAR_021056rs28935187

Expression for genes affiliated with Pyruvate Dehydrogenase E1-Alpha 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 E1-Alpha Deficiency

Search GEO for disease gene expression data for Pyruvate Dehydrogenase E1-Alpha Deficiency.

Pathways for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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Compounds for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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GO Terms for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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Products for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyruvate Dehydrogenase E1-Alpha 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