MCID: PYR018
MIFTS: 24

Pyruvate Dehydrogenase Phosphatase Deficiency malady

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

Summaries for Pyruvate Dehydrogenase Phosphatase Deficiency

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Wikipedia:63 Pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDPC 1), also known as protein phosphatase 2C, is... more...

MalaCards based summary: Pyruvate Dehydrogenase Phosphatase Deficiency, also known as pdh phosphatase deficiency, is related to lactic acidosis, and has symptoms including autosomal recessive inheritance, nystagmus and intellectual disability. An important gene associated with Pyruvate Dehydrogenase Phosphatase Deficiency is PDP1 (pyruvate dehyrogenase phosphatase catalytic subunit 1). Affiliated tissues include brain.

Description from OMIM:45 608782

Aliases & Classifications for Pyruvate Dehydrogenase Phosphatase Deficiency

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Pyruvate Dehydrogenase Phosphatase Deficiency, Aliases & Descriptions:

Name: Pyruvate Dehydrogenase Phosphatase Deficiency 45 10 41 20 47 22 60
Pdh Phosphatase Deficiency 41 47
 
Lactic Acidemia with Pyruvate Dehydrogenase Phosphatase Deficiency 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood


External Ids:

OMIM45 608782
Orphanet47 79246
MESH via Orphanet34 C536258
ICD10 via Orphanet26 E74.4
UMLS via Orphanet61 C1837429

Related Diseases for Pyruvate Dehydrogenase Phosphatase Deficiency

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Diseases related to Pyruvate Dehydrogenase Phosphatase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis10.5

Symptoms for Pyruvate Dehydrogenase Phosphatase Deficiency

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Symptoms by clinical synopsis from OMIM:

608782

Clinical features from OMIM:

608782

HPO human phenotypes related to Pyruvate Dehydrogenase Phosphatase Deficiency:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 nystagmus HP:0000639
3 intellectual disability HP:0001249
4 seizures HP:0001250
5 muscular hypotonia HP:0001252
6 global developmental delay HP:0001263
7 dysphagia HP:0002015
8 gait ataxia HP:0002066
9 decreased activity of the pyruvate dehydrogenase (pdh) complex HP:0002928
10 lactic acidosis HP:0003128
11 infantile onset HP:0003593

Drugs & Therapeutics for Pyruvate Dehydrogenase Phosphatase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Pyruvate Dehydrogenase Phosphatase Deficiency

Search NIH Clinical Center for Pyruvate Dehydrogenase Phosphatase Deficiency

Genetic Tests for Pyruvate Dehydrogenase Phosphatase Deficiency

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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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MalaCards organs/tissues related to Pyruvate Dehydrogenase Phosphatase Deficiency:

31
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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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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Clinvar genetic disease variations for Pyruvate Dehydrogenase Phosphatase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PDP1PDP1, 3-BP DEL, LEU213deletionPathogenic
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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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
  • Proteins
  • Kits and Assays

Sources for Pyruvate Dehydrogenase Phosphatase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet