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:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pyruvate Dehydrogenase Phosphatase Deficiency:

Name: Pyruvate Dehydrogenase Phosphatase Deficiency 52 48 24 54 70 27 12 68
Lactic Acidemia with Pyruvate Dehydrogenase Phosphatase Deficiency 48 24
 
Pdh Phosphatase Deficiency 54
Pdp Deficiency 70

Characteristics:

Orphanet epidemiological data:

54
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood

HPO:

64
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 608782
Orphanet54 ORPHA79246
MESH via Orphanet40 C536258
UMLS via Orphanet69 C1837429
ICD10 via Orphanet31 E74.4
MedGen37 C1837429

Summaries for Pyruvate Dehydrogenase Phosphatase Deficiency

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UniProtKB/Swiss-Prot:70 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 brain.

Wikipedia:71 Pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDPC 1), also known as protein phosphatase 2C, is... more...

Description from OMIM:52 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 acidosis10.0

Symptoms & Phenotypes for Pyruvate Dehydrogenase Phosphatase Deficiency

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Symptoms by clinical synopsis from OMIM:

608782

Clinical features from OMIM:

608782

Human phenotypes related to Pyruvate Dehydrogenase Phosphatase Deficiency:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 nystagmus64 HP:0000639
2 intellectual disability64 HP:0001249
3 seizures64 HP:0001250
4 muscular hypotonia64 HP:0001252
5 global developmental delay64 HP:0001263
6 dysphagia64 HP:0002015
7 gait ataxia64 HP:0002066
8 decreased activity of the pyruvate dehydrogenase complex64 HP:0002928
9 lactic acidosis64 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 Deficiency27 24 PDP1

Anatomical Context for Pyruvate Dehydrogenase Phosphatase Deficiency

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MalaCards organs/tissues related to Pyruvate Dehydrogenase Phosphatase Deficiency:

36
Brain

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, LEU213deletionPathogenicChr na, -1: -1
2PDP1NM_018444.3(PDP1): c.277G> T (p.Glu93Ter)SNVPathogenicrs267606938GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet