MCID: PYR018
MIFTS: 25

Pyruvate Dehydrogenase Phosphatase Deficiency malady

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

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDPC 1), also known as protein phosphatase 2C, is... more...

MalaCards: Pyruvate Dehydrogenase Phosphatase Deficiency, also known as lactic acidemia with pyruvate dehydrogenase phosphatase deficiency, is related to lactic acidosis. An important gene associated with Pyruvate Dehydrogenase Phosphatase Deficiency is PDP1 (pyruvate dehyrogenase phosphatase catalytic subunit 1). Affiliated tissues include brain.

Description from OMIM:47 608782

Aliases & Classifications for Pyruvate Dehydrogenase Phosphatase Deficiency

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Sources:
62UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 26ICD10 via Orphanet, 36MESH via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

pyruvate dehydrogenase phosphatase deficiency 43 20 22 47 49 62
lactic acidemia with pyruvate dehydrogenase phosphatase deficiency 43
pyruvate dehydrogenase complex deficiency disease 62
pdh phosphatase deficiency 49


External Ids:

OMIM47 608782
ICD10 via Orphanet26 E74.4
MESH via Orphanet36 C536258
UMLS via Orphanet63 C1837429

Related Diseases for Pyruvate Dehydrogenase Phosphatase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis10.5

Symptoms for Pyruvate Dehydrogenase Phosphatase Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

608782

Clinical features from OMIM:

608782

Drugs & Therapeutics for Pyruvate Dehydrogenase Phosphatase Deficiency

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Pyruvate Dehydrogenase Phosphatase Deficiency

Genetic Tests for Pyruvate Dehydrogenase Phosphatase Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Pyruvate Dehydrogenase Phosphatase Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase Phosphatase Deficiency20 22 PDP1

Anatomical Context for Pyruvate Dehydrogenase Phosphatase Deficiency

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33MalaCards
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MalaCards organs/tissues related to Pyruvate Dehydrogenase Phosphatase Deficiency:

33
Brain

Animal Models for Pyruvate Dehydrogenase Phosphatase Deficiency or affiliated genes

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Publications for Pyruvate Dehydrogenase Phosphatase Deficiency

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52PubMed
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Articles related to Pyruvate Dehydrogenase Phosphatase Deficiency:

idTitleAuthorsYear
1
Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition? (16574315)
2006
2
Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. (15855260)
2005
3
Lactic acidosis due to a defect in the pyruvate dehydrogenase complex: a possible brain pyruvate dehydrogenase phosphatase deficiency. (215904)
1978
4
Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy. (172850)
1975

Variations for Pyruvate Dehydrogenase Phosphatase Deficiency

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

1
id Gene Name Type Significance SNP ID Assembly Location
1PDP1PDP1, 3-BP DEL, LEU213deletionPathogenic/card/pyruvate_dehydrogenase_phosphatase_deficiency
2PDP1NM_018444.3(PDP1): c.277G> T (p.Glu93Ter)single nucleotide variantPathogenicrs267606938GRCh37Chr 8, 94934564: 94934564

Expression for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

Search GEO for disease gene expression data for Pyruvate Dehydrogenase Phosphatase Deficiency.

Pathways for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

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Compounds for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

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GO Terms for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

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Products for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyruvate Dehydrogenase Phosphatase 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