MCID: PYR018
MIFTS: 25

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 57 53 59 75 37 29 13 6 40 73
Lactic Acidemia with Pyruvate Dehydrogenase Phosphatase Deficiency 57 53
Pdh Phosphatase Deficiency 59
Pdp Deficiency 75
Pdhpd 57

Characteristics:

Orphanet epidemiological data:

59
pyruvate dehydrogenase phosphatase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

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


Classifications:



External Ids:

OMIM 57 608782
Orphanet 59 ORPHA79246
MESH via Orphanet 45 C536258
UMLS via Orphanet 74 C1837429
ICD10 via Orphanet 34 E74.4
MedGen 42 C1837429
KEGG 37 H01996
UMLS 73 C1837429

Summaries for Pyruvate Dehydrogenase Phosphatase Deficiency

NIH Rare Diseases : 53 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.

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 and gait ataxia. An important gene associated with Pyruvate Dehydrogenase Phosphatase Deficiency is PDP1 (Pyruvate Dehyrogenase Phosphatase Catalytic Subunit 1). Affiliated tissues include brain, and related phenotypes are nystagmus and intellectual disability

UniProtKB/Swiss-Prot : 75 Pyruvate dehydrogenase phosphatase deficiency: Results in lactic acidosis leading to neurological dysfunction.

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 lactic acidosis 10.1

Symptoms & Phenotypes for Pyruvate Dehydrogenase Phosphatase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus

Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
hypotonia

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

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:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 muscular hypotonia 32 HP:0001252
5 global developmental delay 32 HP:0001263
6 generalized hypotonia 32 HP:0001290
7 dysphagia 32 HP:0002015
8 gait ataxia 32 HP:0002066
9 decreased activity of the pyruvate dehydrogenase complex 32 HP:0002928
10 lactic acidosis 32 HP:0003128

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:

# Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase Phosphatase Deficiency 29 PDP1

Anatomical Context for Pyruvate Dehydrogenase Phosphatase Deficiency

MalaCards organs/tissues related to Pyruvate Dehydrogenase Phosphatase Deficiency:

41
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
(show top 50) (show all 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDP1 NM_018444.3(PDP1): c.851_853delTTC (p.Leu284del) deletion Pathogenic GRCh38 Chromosome 8, 93922910: 93922912
2 PDP1 NM_018444.3(PDP1): c.851_853delTTC (p.Leu284del) deletion Pathogenic GRCh37 Chromosome 8, 94935138: 94935140
3 PDP1 NM_018444.3(PDP1): c.277G> T (p.Glu93Ter) single nucleotide variant Pathogenic rs267606938 GRCh37 Chromosome 8, 94934564: 94934564
4 PDP1 NM_018444.3(PDP1): c.277G> T (p.Glu93Ter) single nucleotide variant Pathogenic rs267606938 GRCh38 Chromosome 8, 93922336: 93922336
5 PDP1 NM_018444.3(PDP1): c.-142G> C single nucleotide variant Uncertain significance rs764874879 GRCh37 Chromosome 8, 94929210: 94929210
6 PDP1 NM_018444.3(PDP1): c.-142G> C single nucleotide variant Uncertain significance rs764874879 GRCh38 Chromosome 8, 93916982: 93916982
7 PDP1 NM_018444.3(PDP1): c.*49C> A single nucleotide variant Uncertain significance rs192535454 GRCh37 Chromosome 8, 94935950: 94935950
8 PDP1 NM_018444.3(PDP1): c.*49C> A single nucleotide variant Uncertain significance rs192535454 GRCh38 Chromosome 8, 93923722: 93923722
9 PDP1 NM_018444.3(PDP1): c.*566T> C single nucleotide variant Uncertain significance rs78884124 GRCh37 Chromosome 8, 94936467: 94936467
10 PDP1 NM_018444.3(PDP1): c.*566T> C single nucleotide variant Uncertain significance rs78884124 GRCh38 Chromosome 8, 93924239: 93924239
11 PDP1 NM_018444.3(PDP1): c.*631G> C single nucleotide variant Benign rs911 GRCh37 Chromosome 8, 94936532: 94936532
12 PDP1 NM_018444.3(PDP1): c.*631G> C single nucleotide variant Benign rs911 GRCh38 Chromosome 8, 93924304: 93924304
13 PDP1 NM_018444.3(PDP1): c.*886C> T single nucleotide variant Uncertain significance rs547657737 GRCh37 Chromosome 8, 94936787: 94936787
14 PDP1 NM_018444.3(PDP1): c.*886C> T single nucleotide variant Uncertain significance rs547657737 GRCh38 Chromosome 8, 93924559: 93924559
15 PDP1 NM_018444.3(PDP1): c.*1409G> A single nucleotide variant Uncertain significance rs757140568 GRCh37 Chromosome 8, 94937310: 94937310
16 PDP1 NM_018444.3(PDP1): c.*1409G> A single nucleotide variant Uncertain significance rs757140568 GRCh38 Chromosome 8, 93925082: 93925082
17 PDP1 NM_018444.3(PDP1): c.*1564C> A single nucleotide variant Uncertain significance rs111728711 GRCh37 Chromosome 8, 94937465: 94937465
18 PDP1 NM_018444.3(PDP1): c.*1564C> A single nucleotide variant Uncertain significance rs111728711 GRCh38 Chromosome 8, 93925237: 93925237
19 PDP1 NM_018444.3(PDP1): c.*1609A> G single nucleotide variant Uncertain significance rs186669527 GRCh37 Chromosome 8, 94937510: 94937510
20 PDP1 NM_018444.3(PDP1): c.*1609A> G single nucleotide variant Uncertain significance rs186669527 GRCh38 Chromosome 8, 93925282: 93925282
21 PDP1 NM_018444.3(PDP1): c.*1661delT deletion Uncertain significance rs60316663 GRCh37 Chromosome 8, 94937562: 94937562
22 PDP1 NM_018444.3(PDP1): c.*1661delT deletion Uncertain significance rs60316663 GRCh38 Chromosome 8, 93925334: 93925334
23 PDP1 NM_018444.3(PDP1): c.*1736G> C single nucleotide variant Likely benign rs116788695 GRCh37 Chromosome 8, 94937637: 94937637
24 PDP1 NM_018444.3(PDP1): c.*1736G> C single nucleotide variant Likely benign rs116788695 GRCh38 Chromosome 8, 93925409: 93925409
25 PDP1 NM_018444.3(PDP1): c.*1799G> C single nucleotide variant Uncertain significance rs535028389 GRCh37 Chromosome 8, 94937700: 94937700
26 PDP1 NM_018444.3(PDP1): c.*1799G> C single nucleotide variant Uncertain significance rs535028389 GRCh38 Chromosome 8, 93925472: 93925472
27 PDP1 NM_018444.3(PDP1): c.*724delT deletion Uncertain significance rs886063179 GRCh38 Chromosome 8, 93924397: 93924397
28 PDP1 NM_018444.3(PDP1): c.*491T> G single nucleotide variant Uncertain significance rs41272417 GRCh37 Chromosome 8, 94936392: 94936392
29 PDP1 NM_018444.3(PDP1): c.*491T> G single nucleotide variant Uncertain significance rs41272417 GRCh38 Chromosome 8, 93924164: 93924164
30 PDP1 NM_018444.3(PDP1): c.*724delT deletion Uncertain significance rs886063179 GRCh37 Chromosome 8, 94936625: 94936625
31 PDP1 NM_018444.3(PDP1): c.*901_*903delCTT deletion Uncertain significance rs886063181 GRCh37 Chromosome 8, 94936802: 94936804
32 PDP1 NM_018444.3(PDP1): c.*901_*903delCTT deletion Uncertain significance rs886063181 GRCh38 Chromosome 8, 93924574: 93924576
33 PDP1 NM_018444.3(PDP1): c.*1324G> A single nucleotide variant Uncertain significance rs774244422 GRCh37 Chromosome 8, 94937225: 94937225
34 PDP1 NM_018444.3(PDP1): c.*1324G> A single nucleotide variant Uncertain significance rs774244422 GRCh38 Chromosome 8, 93924997: 93924997
35 PDP1 NM_018444.3(PDP1): c.*1370A> G single nucleotide variant Uncertain significance rs886063182 GRCh37 Chromosome 8, 94937271: 94937271
36 PDP1 NM_018444.3(PDP1): c.*1370A> G single nucleotide variant Uncertain significance rs886063182 GRCh38 Chromosome 8, 93925043: 93925043
37 PDP1 NM_018444.3(PDP1): c.*1487A> T single nucleotide variant Uncertain significance rs189435075 GRCh37 Chromosome 8, 94937388: 94937388
38 PDP1 NM_018444.3(PDP1): c.*1487A> T single nucleotide variant Uncertain significance rs189435075 GRCh38 Chromosome 8, 93925160: 93925160
39 PDP1 NM_018444.3(PDP1): c.*1649_*1650insG insertion Uncertain significance rs886063184 GRCh37 Chromosome 8, 94937550: 94937551
40 PDP1 NM_018444.3(PDP1): c.*1649_*1650insG insertion Uncertain significance rs886063184 GRCh38 Chromosome 8, 93925322: 93925323
41 PDP1 NM_018444.3(PDP1): c.*1651T> G single nucleotide variant Uncertain significance rs886063185 GRCh37 Chromosome 8, 94937552: 94937552
42 PDP1 NM_018444.3(PDP1): c.*1651T> G single nucleotide variant Uncertain significance rs886063185 GRCh38 Chromosome 8, 93925324: 93925324
43 PDP1 NM_018444.3(PDP1): c.*1664G> A single nucleotide variant Uncertain significance rs558897089 GRCh37 Chromosome 8, 94937565: 94937565
44 PDP1 NM_018444.3(PDP1): c.*1664G> A single nucleotide variant Uncertain significance rs558897089 GRCh38 Chromosome 8, 93925337: 93925337
45 PDP1 NM_018444.3(PDP1): c.*2133G> A single nucleotide variant Uncertain significance rs886063189 GRCh37 Chromosome 8, 94938034: 94938034
46 PDP1 NM_018444.3(PDP1): c.*2133G> A single nucleotide variant Uncertain significance rs886063189 GRCh38 Chromosome 8, 93925806: 93925806
47 PDP1 NM_018444.3(PDP1): c.*2299A> G single nucleotide variant Uncertain significance rs886063190 GRCh38 Chromosome 8, 93925972: 93925972
48 PDP1 NM_018444.3(PDP1): c.*2299A> G single nucleotide variant Uncertain significance rs886063190 GRCh37 Chromosome 8, 94938200: 94938200
49 PDP1 NM_018444.3(PDP1): c.128G> C (p.Arg43Pro) single nucleotide variant Uncertain significance rs201081450 GRCh38 Chromosome 8, 93922187: 93922187
50 PDP1 NM_018444.3(PDP1): c.128G> C (p.Arg43Pro) single nucleotide variant Uncertain significance rs201081450 GRCh37 Chromosome 8, 94934415: 94934415

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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