PDP DEFICIENCY
MCID: PYR018
MIFTS: 24

Pyruvate Dehydrogenase Phosphatase Deficiency (PDP DEFICIENCY) malady

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

Aliases & Classifications for Pyruvate Dehydrogenase Phosphatase Deficiency

Aliases & Descriptions for Pyruvate Dehydrogenase Phosphatase Deficiency:

Name: Pyruvate Dehydrogenase Phosphatase Deficiency 54 50 24 56 66 29 13 69
Lactic Acidemia with Pyruvate Dehydrogenase Phosphatase Deficiency 50 24
Pdh Phosphatase Deficiency 56
Pdp Deficiency 66

Characteristics:

Orphanet epidemiological data:

56
pyruvate dehydrogenase phosphatase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

HPO:

32
pyruvate dehydrogenase phosphatase deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 608782
Orphanet 56 ORPHA79246
MESH via Orphanet 43 C536258
UMLS via Orphanet 70 C1837429
ICD10 via Orphanet 34 E74.4
MedGen 40 C1837429

Summaries for Pyruvate Dehydrogenase Phosphatase Deficiency

UniProtKB/Swiss-Prot : 66 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, gait ataxia and nystagmus. 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: 608782

Related Diseases for Pyruvate Dehydrogenase Phosphatase Deficiency

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

id Related Disease Score Top Affiliating Genes
1 lactic acidosis 10.0

Symptoms & Phenotypes for Pyruvate Dehydrogenase Phosphatase Deficiency

Symptoms by clinical synopsis from OMIM:

608782

Clinical features from OMIM:

608782

Human phenotypes related to Pyruvate Dehydrogenase Phosphatase Deficiency:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 gait ataxia 32 HP:0002066
3 nystagmus 32 HP:0000639
4 intellectual disability 32 HP:0001249
5 muscular hypotonia 32 HP:0001252
6 dysphagia 32 HP:0002015
7 global developmental delay 32 HP:0001263
8 lactic acidosis 32 HP:0003128
9 decreased activity of the pyruvate dehydrogenase complex 32 HP:0002928

UMLS symptoms related to Pyruvate Dehydrogenase Phosphatase Deficiency:


seizures, gait ataxia

Drugs & Therapeutics for Pyruvate Dehydrogenase Phosphatase Deficiency

Search Clinical Trials , NIH Clinical Center for Pyruvate Dehydrogenase Phosphatase Deficiency

Genetic Tests for Pyruvate Dehydrogenase Phosphatase Deficiency

Genetic tests related to Pyruvate Dehydrogenase Phosphatase Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase Phosphatase Deficiency 29 24 PDP1

Anatomical Context for Pyruvate Dehydrogenase Phosphatase Deficiency

MalaCards organs/tissues related to Pyruvate Dehydrogenase Phosphatase Deficiency:

39
Brain

Publications for Pyruvate Dehydrogenase Phosphatase Deficiency

Articles related to Pyruvate Dehydrogenase Phosphatase Deficiency:

id Title Authors Year
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

ClinVar genetic disease variations for Pyruvate Dehydrogenase Phosphatase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PDP1 PDP1, 3-BP DEL, LEU213 deletion Pathogenic
2 PDP1 NM_018444.3(PDP1): c.277G> T (p.Glu93Ter) single nucleotide variant Pathogenic rs267606938 GRCh37 Chromosome 8, 94934564: 94934564

Expression for Pyruvate Dehydrogenase Phosphatase Deficiency

Search GEO for disease gene expression data for Pyruvate Dehydrogenase Phosphatase Deficiency.

Pathways for Pyruvate Dehydrogenase Phosphatase Deficiency

GO Terms for Pyruvate Dehydrogenase Phosphatase Deficiency

Sources for Pyruvate Dehydrogenase Phosphatase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....