MCID: PYR018
MIFTS: 24

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:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pyruvate Dehydrogenase Phosphatase Deficiency:

Name: Pyruvate Dehydrogenase Phosphatase Deficiency 49 11 45 22 51 67 24 65
Lactic Acidemia with Pyruvate Dehydrogenase Phosphatase Deficiency 45 22
 
Pdh Phosphatase Deficiency 51
Pdp Deficiency 67

Characteristics:

Orphanet epidemiological data:

51
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood

HPO:

61
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset


Classifications:



External Ids:

OMIM49 608782
Orphanet51 79246
ICD10 via Orphanet28 E74.4
MESH via Orphanet37 C536258
UMLS via Orphanet66 C1837429
MedGen34 C1837429
UMLS65 C1837429

Summaries for Pyruvate Dehydrogenase Phosphatase Deficiency

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UniProtKB/Swiss-Prot:67 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 nystagmus, intellectual disability and seizures. An important gene associated with Pyruvate Dehydrogenase Phosphatase Deficiency is PDP1 (Pyruvate Dehyrogenase Phosphatase Catalytic Subunit 1). Affiliated tissues include breast and brain.

Wikipedia:68 Pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDPC 1), also known as protein phosphatase 2C, is... more...

Description from OMIM:49 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 (pdh) complex HP:0002928
9 lactic acidosis HP:0003128

UMLS symptoms related to Pyruvate Dehydrogenase Phosphatase Deficiency:


gait ataxia, seizures

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 Deficiency22 PDP1

Anatomical Context for Pyruvate Dehydrogenase Phosphatase Deficiency

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MalaCards organs/tissues related to Pyruvate Dehydrogenase Phosphatase Deficiency:

33
Breast, 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet