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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pyruvate Dehydrogenase Phosphatase Deficiency:

Name: Pyruvate Dehydrogenase Phosphatase Deficiency 51 47 24 53 69 26 12 67
Lactic Acidemia with Pyruvate Dehydrogenase Phosphatase Deficiency 47 24
 
Pdh Phosphatase Deficiency 53
Pdp Deficiency 69

Characteristics:

Orphanet epidemiological data:

53
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood

HPO:

63
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM51 608782
Orphanet53 ORPHA79246
MESH via Orphanet39 C536258
UMLS via Orphanet68 C1837429
ICD10 via Orphanet30 E74.4
MedGen36 C1837429

Summaries for Pyruvate Dehydrogenase Phosphatase Deficiency

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UniProtKB/Swiss-Prot:69 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:70 Pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDPC 1), also known as protein phosphatase 2C, is... more...

Description from OMIM:51 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 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:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 nystagmus63 HP:0000639
2 intellectual disability63 HP:0001249
3 seizures63 HP:0001250
4 muscular hypotonia63 HP:0001252
5 global developmental delay63 HP:0001263
6 dysphagia63 HP:0002015
7 gait ataxia63 HP:0002066
8 decreased activity of the pyruvate dehydrogenase complex63 HP:0002928
9 lactic acidosis63 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 Deficiency26 24 PDP1

Anatomical Context for Pyruvate Dehydrogenase Phosphatase Deficiency

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MalaCards organs/tissues related to Pyruvate Dehydrogenase Phosphatase Deficiency:

35
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, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet