PDHAD
MCID: PYR022
MIFTS: 24

Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHAD) malady

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

Summaries for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
48OMIM, 34MalaCards
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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:48 312170

Aliases & Classifications for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
50Orphanet, 63UMLS, 21GeneTests, 23GTR, 48OMIM, 27ICD10 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 e1-alpha deficiency:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

pyruvate dehydrogenase e1-alpha deficiency 21 23 48 50 63
pyruvate dehydrogenase complex e1 component subunit alpha deficiency 50
pyruvate dehydrogenase complex deficiency disease 63
pyruvate decarboxylase deficiency 50
pdhad 50


External Ids:

OMIM48 312170
ICD10 via Orphanet27 E74.4

Related Diseases for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
18GeneCards, 19GeneDecks
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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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Sources:
48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Genetic Tests for Pyruvate Dehydrogenase E1-Alpha Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E1-Alpha Deficiency21 23 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:
65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pyruvate Dehydrogenase E1-Alpha Deficiency:

65 (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, 16Gene 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
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