MCID: PYR018
MIFTS: 24

Pyruvate Dehydrogenase Phosphatase Deficiency

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

Aliases & Classifications for Pyruvate Dehydrogenase Phosphatase Deficiency

MalaCards integrated aliases for Pyruvate Dehydrogenase Phosphatase Deficiency:

Name: Pyruvate Dehydrogenase Phosphatase Deficiency 53 49 55 71 36 28 13 69
Lactic Acidemia with Pyruvate Dehydrogenase Phosphatase Deficiency 53 49
Pdh Phosphatase Deficiency 55
Pdp Deficiency 71
Pdhpd 53

Characteristics:

Orphanet epidemiological data:

55
pyruvate dehydrogenase phosphatase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
pyruvate dehydrogenase phosphatase deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 608782
Orphanet 55 ORPHA79246
MESH via Orphanet 42 C536258
UMLS via Orphanet 70 C1837429
ICD10 via Orphanet 33 E74.4
MedGen 39 C1837429
KEGG 36 H01996
UMLS 69 C1837429

Summaries for Pyruvate Dehydrogenase Phosphatase Deficiency

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79246Disease definitionPyruvate dehydrogenase phosphatase deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by lactic acidemia in the neonatal period.EpidemiologyPrevalence is unknown but this form of PDHD appears to be very rare, with only three patients reported.Clinical descriptionAll three patients presented in the newborn period with lactic acidosis and hypotonia. Two siblings from one family have had a prolonged course on a ketogenic diet, surviving into teenage years with exercise intolerance and mild developmental delay. The third patient died at age 6 months.EtiologyThe disorder is caused by mutations in the PDP1 gene (8q22.1) encoding pyruvate dehyrogenase phosphatase isoform 1, an enzyme which regulates the activity of the pyruvate dehydrogenase complex.Genetic counselingThe pattern of inheritance is autosomal recessive.Visit the Orphanet disease page for more resources. Last updated: 8/1/2012

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.

UniProtKB/Swiss-Prot : 71 Pyruvate dehydrogenase phosphatase deficiency: Results in lactic acidosis leading to neurological dysfunction.

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:

# Related Disease Score Top Affiliating Genes
1 lactic acidosis 10.1

Symptoms & Phenotypes for Pyruvate Dehydrogenase Phosphatase Deficiency

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
developmental delay
mental retardation
ataxic gait
low densities in the basal ganglia similar to leigh syndrome

Abdomen Gastroin testinal:
dysphagia

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
nystagmus

Metabolic Features:
lactic acidosis

Laboratory Abnormalities:
decreased activity of the pyruvate dehydrogenase (pdh) complex
decreased activity of the pdh phosphatase


Clinical features from OMIM:

608782

Human phenotypes related to Pyruvate Dehydrogenase Phosphatase Deficiency:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 gait ataxia 31 HP:0002066
3 nystagmus 31 HP:0000639
4 intellectual disability 31 HP:0001249
5 dysphagia 31 HP:0002015
6 global developmental delay 31 HP:0001263
7 lactic acidosis 31 HP:0003128
8 generalized hypotonia 31 HP:0001290
9 decreased activity of the pyruvate dehydrogenase complex 31 HP:0002928

UMLS symptoms related to Pyruvate Dehydrogenase Phosphatase Deficiency:


gait ataxia, seizures

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:

# Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase Phosphatase Deficiency 28 PDP1

Anatomical Context for Pyruvate Dehydrogenase Phosphatase Deficiency

MalaCards organs/tissues related to Pyruvate Dehydrogenase Phosphatase Deficiency:

38
Brain

Publications for Pyruvate Dehydrogenase Phosphatase Deficiency

Articles related to Pyruvate Dehydrogenase Phosphatase Deficiency:

# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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