MCID: PYR018
MIFTS: 23

Pyruvate Dehydrogenase Phosphatase Deficiency malady

Neuronal diseases, Metabolic diseases, Fetal diseases categories

Summaries for Pyruvate Dehydrogenase Phosphatase Deficiency

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Sources:
63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 lactic acidosis. An important gene associated with Pyruvate Dehydrogenase Phosphatase Deficiency is PDP1 (pyruvate dehyrogenase phosphatase catalytic subunit 1).

Description from OMIM:46 608782

Aliases & Classifications for Pyruvate Dehydrogenase Phosphatase Deficiency

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Sources:
60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

pyruvate dehydrogenase phosphatase deficiency 42 20 22 46 48 60
lactic acidemia with pyruvate dehydrogenase phosphatase deficiency 42
pyruvate dehydrogenase complex deficiency disease 60
pdh phosphatase deficiency 48


External Ids:

OMIM46 608782
ICD10 via Orphanet26 E74.4

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
1pyruvate decarboxylase deficiency10.5
2lactic acidosis10.4
3pyruvate dehydrogenase e2 deficiency10.3
4pyruvate dehydrogenase e1-beta deficiency10.3
5pyruvate dehydrogenase e1-alpha deficiency10.3
6dihydrolipoamide dehydrogenase 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

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46OMIM
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Clinical features from OMIM:

608782

Clinical synopsis from OMIM:

608782

Drugs & Therapeutics for Pyruvate Dehydrogenase Phosphatase Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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

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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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Animal Models for Pyruvate Dehydrogenase Phosphatase Deficiency or affiliated genes

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Publications for Pyruvate Dehydrogenase Phosphatase Deficiency

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Genetic Variations for Pyruvate Dehydrogenase Phosphatase Deficiency

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Expression for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet