MCID: PYR018
MIFTS: 25

Pyruvate Dehydrogenase Phosphatase Deficiency malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Pyruvate Dehydrogenase Phosphatase Deficiency

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Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pyruvate Dehydrogenase Phosphatase Deficiency:

Name: Pyruvate Dehydrogenase Phosphatase Deficiency 50 46 23 52 68 25 12 66
Lactic Acidemia with Pyruvate Dehydrogenase Phosphatase Deficiency 46 23
 
Pdh Phosphatase Deficiency 52
Pdp Deficiency 68

Characteristics:

Orphanet epidemiological data:

52
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood

HPO:

62
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM50 608782
Orphanet52 ORPHA79246
ICD10 via Orphanet29 E74.4
MESH via Orphanet38 C536258
UMLS via Orphanet67 C1837429
MedGen35 C1837429

Summaries for Pyruvate Dehydrogenase Phosphatase Deficiency

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UniProtKB/Swiss-Prot:68 Pyruvate dehydrogenase phosphatase deficiency: Results in lactic acidosis leading to neurological dysfunction.

MalaCards based summary: Pyruvate Dehydrogenase Phosphatase Deficiency, also known as lactic acidemia with pyruvate dehydrogenase phosphatase deficiency, is related to lactic acidosis, and has symptoms including seizures, seizures and gait ataxia. An important gene associated with Pyruvate Dehydrogenase Phosphatase Deficiency is PDP1 (Pyruvate Dehyrogenase Phosphatase Catalytic Subunit 1). Affiliated tissues include brain.

Wikipedia:69 Pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDPC 1), also known as protein phosphatase 2C, is... more...

Description from OMIM:50 608782

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 acidosis10.1

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 9)
id Description Frequency HPO Source Accession
1 nystagmus HP:0000639
2 intellectual disability HP:0001249
3 seizures HP:0001250
4 muscular hypotonia HP:0001252
5 global developmental delay HP:0001263
6 dysphagia HP:0002015
7 gait ataxia HP:0002066
8 decreased activity of the pyruvate dehydrogenase complex HP:0002928
9 lactic acidosis HP:0003128

UMLS symptoms related to Pyruvate Dehydrogenase Phosphatase Deficiency:


seizures, gait ataxia

Drugs & Therapeutics for Pyruvate Dehydrogenase Phosphatase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, 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 Deficiency25 23 PDP1

Anatomical Context for Pyruvate Dehydrogenase Phosphatase Deficiency

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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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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:

5
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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GO Terms for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

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Sources for Pyruvate Dehydrogenase Phosphatase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet