MCID: PYR018
MIFTS: 22

Pyruvate Dehydrogenase Phosphatase Deficiency malady

Neuronal, Metabolic, Fetal categories

Summaries for Pyruvate Dehydrogenase Phosphatase Deficiency

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 pyruvate decarboxylase deficiency and pyruvate dehydrogenase e2 deficiency. 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

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Metabolic


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 61
lactic acidemia with pyruvate dehydrogenase phosphatase deficiency 43
pyruvate dehydrogenase complex deficiency disease 61
pdh phosphatase deficiency 49


External Ids:

OMIM47 608782
ICD10 via Orphanet26 E74.4

Related Diseases for Pyruvate Dehydrogenase Phosphatase Deficiency

Sources:
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
1pyruvate decarboxylase deficiency10.5
2pyruvate dehydrogenase e2 deficiency10.3
3pyruvate dehydrogenase e1-beta deficiency10.3
4pyruvate dehydrogenase e1-alpha deficiency10.3
5dihydrolipoamide dehydrogenase deficiency10.3
6protein c deficiency10.3
7protein r deficiency10.3

Graphical network of diseases related to Pyruvate Dehydrogenase Phosphatase Deficiency:



Diseases related to pyruvate dehydrogenase phosphatase deficiency

Clinical Features for Pyruvate Dehydrogenase Phosphatase Deficiency

Sources:
47OMIM
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Clinical features from OMIM:

608782

Clinical synopsis from OMIM:

608782

Drugs & Therapeutics for Pyruvate Dehydrogenase Phosphatase Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pyruvate Dehydrogenase Phosphatase Deficiency

Drug clinical trials:

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Search NIH Clinical Center for Pyruvate Dehydrogenase Phosphatase Deficiency

Search CenterWatch for Pyruvate Dehydrogenase Phosphatase Deficiency

Genetic Tests for Pyruvate Dehydrogenase Phosphatase Deficiency

Sources:
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

Sources:
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

Sources:
28inGenious Targeting Laboratory
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Publications for Pyruvate Dehydrogenase Phosphatase Deficiency

Sources:
51PubMed
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Articles related to Pyruvate Dehydrogenase Phosphatase Deficiency:

idTitleAuthorsYear
1
Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency. (17095275)
2007
2
Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition? (16574315)
2006
3
Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation. (15855260)
2005
4
Lactic acidosis due to a defect in the pyruvate dehydrogenase complex: a possible brain pyruvate dehydrogenase phosphatase deficiency. (215904)
1978
5
Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy. (172850)
1975

Genetic Variations for Pyruvate Dehydrogenase Phosphatase Deficiency

Expression for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

Sources:
1BioGPS, 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

Compounds for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

GO Terms for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

Products for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pyruvate Dehydrogenase Phosphatase Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet