MCID: PYR018
MIFTS: 25

Pyruvate Dehydrogenase Phosphatase Deficiency malady

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

Summaries for Pyruvate Dehydrogenase Phosphatase Deficiency

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Sources:
66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 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:48 608782

Aliases & Classifications for Pyruvate Dehydrogenase Phosphatase Deficiency

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Sources:
63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 50Orphanet, 27ICD10 via Orphanet, 37MESH via Orphanet, 64UMLS 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):

50
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

pyruvate dehydrogenase phosphatase deficiency 44 21 23 48 50 63
lactic acidemia with pyruvate dehydrogenase phosphatase deficiency 44
pyruvate dehydrogenase complex deficiency disease 63
pdh phosphatase deficiency 50


External Ids:

OMIM48 608782
ICD10 via Orphanet27 E74.4
MESH via Orphanet37 C536258
UMLS via Orphanet64 C1837429

Related Diseases for Pyruvate Dehydrogenase Phosphatase Deficiency

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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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 Phosphatase Deficiency

Search CenterWatch for Pyruvate Dehydrogenase Phosphatase Deficiency

Genetic Tests for Pyruvate Dehydrogenase Phosphatase Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Pyruvate Dehydrogenase Phosphatase Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase Phosphatase Deficiency21 23 PDP1

Anatomical Context for Pyruvate Dehydrogenase Phosphatase Deficiency

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34MalaCards
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MalaCards organs/tissues related to Pyruvate Dehydrogenase Phosphatase Deficiency:

34
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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53PubMed
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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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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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Sources:
2BioGPS, 16Gene 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
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