PDH
MCID: PYR018
MIFTS: 48

Pyruvate Dehydrogenase Phosphatase Deficiency (PDH) malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Fetal diseases categories
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Summaries for Pyruvate Dehydrogenase Phosphatase Deficiency

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Wikipedia:65 Pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDPC 1), also known as protein phosphatase 2C, is... more...

MalaCards based summary: Pyruvate Dehydrogenase Phosphatase Deficiency, also known as lactic acidemia with pyruvate dehydrogenase phosphatase deficiency, is related to lactic acidosis and leigh disease, and has symptoms including facial dysmorphism, feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia and motor deficit/trouble. An important gene associated with Pyruvate Dehydrogenase Phosphatase Deficiency is PDP1 (pyruvate dehyrogenase phosphatase catalytic subunit 1), and among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The compounds 2-oxo acid and dihydrolipoamide have been mentioned in the context of this disorder. Affiliated tissues include eye, lung and brain.

Descriptions from OMIM:46 608782, 614111, 245348, 245349, 246900 312170 more

Aliases & Classifications for Pyruvate Dehydrogenase Phosphatase Deficiency

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Pyruvate Dehydrogenase Phosphatase Deficiency, Aliases & Descriptions:

Name: Pyruvate Dehydrogenase Phosphatase Deficiency 42 20 22 46 48 62
Lactic Acidemia with Pyruvate Dehydrogenase Phosphatase Deficiency 42 62
Pyruvate Dehydrogenase Complex Deficiency 48 62
Pyruvate Dehydrogenase Deficiency 48 62
 
Pdh 48 62
Pyruvate Dehydrogenase Complex Deficiency Disease 62
Pdh Phosphatase Deficiency 48
Pdhc 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
pyruvate dehydrogenase complex deficiency:
Inheritance: Autosomal recessive,Sporadic,X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Child / adolescent
pyruvate dehydrogenase phosphatase deficiency:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


External Ids:

MESH via Orphanet35 C536257, D015325, C536258
ICD10 via Orphanet26 E74.4
UMLS via Orphanet63 C0034345, C2936911, C1837429

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/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis30.6PDP1, PDHX
2leigh disease30.1PDP1, PDHX
3primary biliary cirrhosis29.7PDP1, PDHX
4pyruvate decarboxylase deficiency10.8
5west syndrome10.5
6pyruvate dehydrogenase e2 deficiency10.5
7pyruvate dehydrogenase e1-alpha deficiency10.3
8periventricular leukomalacia10.2
9cerebritis10.2
10dystonia10.2
11spinocerebellar degeneration10.2
12leukomalacia10.2
13ataxia10.2
14ischemia10.2
15hypoxia10.2
16breast cancer10.0
17dihydrolipoamide dehydrogenase deficiency10.0
18galactosemia9.9PDP1, PDHX

Graphical network of diseases related to Pyruvate Dehydrogenase Phosphatase Deficiency:



Diseases related to pyruvate dehydrogenase phosphatase deficiency

Symptoms for Pyruvate Dehydrogenase Phosphatase Deficiency

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Symptoms by clinical synopsis from OMIM:

608782

Clinical features from OMIM:

608782,614111,245348,245349,246900,312170

Symptoms:

48 (show all 38)
  • facial dysmorphism
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • motor deficit/trouble
  • hypotonia
  • obnubilation/coma/lethargia/desorientation
  • autosomal recessive inheritance
  • x-linked dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • abnormal eye movements/oculomotor disorder
  • respiratory rhythm disorder
  • corpus callosum/septum pellucidum total/partial agenesis
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • tremor
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • pyramidal syndrome
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • elocution disorders/dysarthria/dysphonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • intrauterine growth retardation
  • trigonocephaly
  • frontal bossing/prominent forehead
  • narrow face
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • epicanthic folds
  • broad nose/nasal bridge
  • long philtrum
  • high vaulted/narrow palate
  • pectus excavatum
  • xanthomas/lipomas
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • dilated cerebral ventricles without hydrocephaly
  • dystonia/torticollis/writer's cramp/blepharospasms
  • acute palsy
  • early death/lethality

HPO human phenotypes related to Pyruvate Dehydrogenase Phosphatase Deficiency:

(show all 41)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 reduced consciousness/confusion hallmark (90%) HP:0004372
3 feeding difficulties in infancy hallmark (90%) HP:0008872
4 microcephaly typical (50%) HP:0000252
5 abnormality of eye movement typical (50%) HP:0000496
6 seizures typical (50%) HP:0001250
7 hypertonia typical (50%) HP:0001276
8 gait disturbance typical (50%) HP:0001288
9 tremor typical (50%) HP:0001337
10 intrauterine growth retardation typical (50%) HP:0001511
11 chorea typical (50%) HP:0002072
12 neurological speech impairment typical (50%) HP:0002167
13 incoordination typical (50%) HP:0002311
14 abnormal pattern of respiration typical (50%) HP:0002793
15 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
16 cognitive impairment typical (50%) HP:0100543
17 abnormality of the palate occasional (7.5%) HP:0000174
18 trigonocephaly occasional (7.5%) HP:0000243
19 narrow face occasional (7.5%) HP:0000275
20 epicanthus occasional (7.5%) HP:0000286
21 hypertelorism occasional (7.5%) HP:0000316
22 long philtrum occasional (7.5%) HP:0000343
23 abnormality of the nose occasional (7.5%) HP:0000366
24 upslanted palpebral fissure occasional (7.5%) HP:0000582
25 pectus excavatum occasional (7.5%) HP:0000767
26 multiple lipomas occasional (7.5%) HP:0001012
27 frontal bossing occasional (7.5%) HP:0002007
28 respiratory insufficiency occasional (7.5%) HP:0002093
29 ventriculomegaly occasional (7.5%) HP:0002119
30 cerebral palsy occasional (7.5%) HP:0100021
31 autosomal recessive inheritance HP:0000007
32 nystagmus HP:0000639
33 intellectual disability HP:0001249
34 seizures HP:0001250
35 muscular hypotonia HP:0001252
36 global developmental delay HP:0001263
37 dysphagia HP:0002015
38 gait ataxia HP:0002066
39 decreased activity of the pyruvate dehydrogenase (pdh) complex HP:0002928
40 lactic acidosis HP:0003128
41 infantile onset HP:0003593

Drugs & Therapeutics for Pyruvate Dehydrogenase Phosphatase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Pyruvate Dehydrogenase Phosphatase Deficiency

Search 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 Deficiency20 22 PDP1

Anatomical Context for Pyruvate Dehydrogenase Phosphatase Deficiency

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MalaCards organs/tissues related to Pyruvate Dehydrogenase Phosphatase Deficiency:

32
Eye, Lung, 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:

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1PDHXPDHX, 85-BP DEL, NT78deletionPathogenic
2PDHXPDHX, 59-BP DEL, NT965deletionPathogenic
3PDHXPDHX, 4-BP DEL, 125GAAGdeletionPathogenic
4PDHXPDHX, IVS5DS, G-Asingle nucleotide variantPathogenic
5PDHXPDHX, IVS8AS, G-A, -1single nucleotide variantPathogenic
6PDHXPDHX, 1-BP DEL, 620CdeletionPathogenic
7PDHXPDHX, 46-KB DELdeletionPathogenic
8PDHXNM_003477.2(PDHX): c.742C> T (p.Gln248Ter)single nucleotide variantPathogenicrs113309941GRCh37Chr 11, 34988287: 34988287
9PDHXPDHX, 3,913-BP DELdeletionPathogenic
10PDHXNM_003477.2(PDHX): c.44G> A (p.Arg15His)single nucleotide variantPathogenicrs387906998GRCh37Chr 11, 34938246: 34938246
11PDP1PDP1, 3-BP DEL, LEU213deletionPathogenic
12PDP1NM_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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Expression patterns in normal tissues for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

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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Pathways related to Pyruvate Dehydrogenase Phosphatase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1PDP1, PDHX
2
Show member pathways
9.1PDP1, PDHX
3
Show member pathways
TCA cycle37
pyruvate decarboxylation to acetyl CoA37
NAD phosphorylation and dephosphorylation37
TCA Cycle37
conversion of glucose to acetyl CoA and entry into the TCA cycle37
9.1PDP1, PDHX

Compounds for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

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Sources:
44Novoseek, 24HMDB
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Compounds related to Pyruvate Dehydrogenase Phosphatase Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
12-oxo acid449.3PDP1, PDHX
2dihydrolipoamide44 2410.2PDP1, PDHX
3alpha lipoic acid449.2PDP1, PDHX
4alpha-ketoglutarate449.1PDHX, PDP1
5serine449.1PDP1, PDHX
6pyruvate449.0PDP1, PDHX
7glucose448.8PDP1, PDHX

GO Terms for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

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Cellular components related to Pyruvate Dehydrogenase Phosphatase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057599.1PDP1, PDHX

Biological processes related to Pyruvate Dehydrogenase Phosphatase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of acetyl-CoA biosynthetic process from pyruvateGO:0105109.1PDP1, PDHX
2small molecule metabolic processGO:0442819.1PDP1, PDHX
3pyruvate metabolic processGO:0060909.0PDP1, PDHX
4cellular metabolic processGO:0442378.8PDP1, PDHX

Products for genes affiliated with Pyruvate Dehydrogenase Phosphatase Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Pyruvate Dehydrogenase Phosphatase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet