MCID: LCT005
MIFTS: 30

Lacticacidemia Due to Pdx1 Deficiency

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

Aliases & Classifications for Lacticacidemia Due to Pdx1 Deficiency

MalaCards integrated aliases for Lacticacidemia Due to Pdx1 Deficiency:

Name: Lacticacidemia Due to Pdx1 Deficiency 54 71 13
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 24 56 71 29 69
Lactic Acidemia Due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex 71
Branched Chain Alpha-Ketoacid Dehydrogenase Complex Deficiency 56
Pyruvate Dehydrogenase Complex Component E3 Deficiency 56
Pyruvate Dehydrogenase Protein X Component Deficiency 56
Glycine Cleavage System L Protein Deficiency 56
Nadh Cytochrome B5 Reductase Deficiency 69
Dihydrolipoyl Dehydrogenase Deficiency 56
Lipoamide Dehydrogenase Deficiency 56
2-Oxoglutarate Complex Deficiency 56
Diaphorase Deficiency 56
Pdhxd 71

Characteristics:

Orphanet epidemiological data:

56
pyruvate dehydrogenase e3-binding protein deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth or in early childhood
phenotypic similarities to leigh syndrome
patients may or may not have dysmorphic features


HPO:

32
lacticacidemia due to pdx1 deficiency:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Lacticacidemia Due to Pdx1 Deficiency

UniProtKB/Swiss-Prot : 71 Pyruvate dehydrogenase E3-binding protein deficiency: A metabolic disorder characterized by decreased activity of the pyruvate dehydrogenase complex without observable reduction in the activities of enzymes E1, E2, or E3. Clinical features include hypotonia and psychomotor retardation.

MalaCards based summary : Lacticacidemia Due to Pdx1 Deficiency, also known as pyruvate dehydrogenase e3-binding protein deficiency, is related to methemoglobinemia, type i and dihydrolipoamide dehydrogenase deficiency, and has symptoms including optic atrophy, dystonia and ataxia. An important gene associated with Lacticacidemia Due to Pdx1 Deficiency is PDHX (Pyruvate Dehydrogenase Complex Component X). Affiliated tissues include eye, and related phenotype is shRNA abundance <= 50%.

Description from OMIM: 245349

Related Diseases for Lacticacidemia Due to Pdx1 Deficiency

Diseases related to Lacticacidemia Due to Pdx1 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 methemoglobinemia, type i 11.1
2 dihydrolipoamide dehydrogenase deficiency 11.1
3 methemoglobinemia 9.9
4 lactic acidosis 9.9
5 congenital methemoglobinemia 9.8
6 hereditary methemoglobinemia 9.7
7 severe combined immunodeficiency, b cell-negative 9.5 PDHX PDX1

Graphical network of the top 20 diseases related to Lacticacidemia Due to Pdx1 Deficiency:



Diseases related to Lacticacidemia Due to Pdx1 Deficiency

Symptoms & Phenotypes for Lacticacidemia Due to Pdx1 Deficiency

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
mental retardation
dystonia
ataxia
developmental delay
spastic paraplegia
more
Head And Neck- Head:
microcephaly
trigonocephaly
frontal metopic ridge

Head And Neck- Mouth:
high palate

Chest- External Features:
pectus excavatum (1 patient)

Head And Neck- Eyes:
optic atrophy
epicanthal folds
hypertelorism
abnormal ocular movements

Metabolic Features:
metabolic acidosis
lactic acidosis

Laboratory- Abnormalities:
increased serum alanine
decreased activity of the pyruvate dehydrogenase (pdh) complex
increased serum pyruvate
lacticacidemia
decreased levels of component x protein of the pdh complex


Clinical features from OMIM:

245349

Human phenotypes related to Lacticacidemia Due to Pdx1 Deficiency:

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 optic atrophy 32 HP:0000648
2 dystonia 32 HP:0001332
3 ataxia 32 HP:0001251
4 spastic paraplegia 32 HP:0001258
5 seizures 32 HP:0001250
6 unsteady gait 32 HP:0002317
7 microcephaly 32 HP:0000252
8 metabolic acidosis 32 HP:0001942
9 hypertelorism 32 HP:0000316
10 trigonocephaly 32 HP:0000243
11 global developmental delay 32 HP:0001263
12 lactic acidosis 32 HP:0003128
13 neonatal hypotonia 32 HP:0001319
14 intellectual disability 32 HP:0001249
15 pectus excavatum 32 HP:0000767
16 partial agenesis of the corpus callosum 32 HP:0001338
17 subependymal cysts 32 HP:0002416
18 high palate 32 HP:0000218
19 spastic tetraplegia 32 HP:0002510
20 epicanthus 32 HP:0000286
21 increased serum pyruvate 32 HP:0003542
22 poor gross motor coordination 32 HP:0007015
23 poor fine motor coordination 32 HP:0007010
24 abnormality of eye movement 32 HP:0000496
25 hyperalaninemia 32 HP:0003348
26 decreased activity of the pyruvate dehydrogenase complex 32 HP:0002928

UMLS symptoms related to Lacticacidemia Due to Pdx1 Deficiency:


ataxia, cyanosis, headache, lethargy, seizures, dyspnea on exertion

GenomeRNAi Phenotypes related to Lacticacidemia Due to Pdx1 Deficiency according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 8.62 PDHX PDX1

Drugs & Therapeutics for Lacticacidemia Due to Pdx1 Deficiency

Search Clinical Trials , NIH Clinical Center for Lacticacidemia Due to Pdx1 Deficiency

Genetic Tests for Lacticacidemia Due to Pdx1 Deficiency

Genetic tests related to Lacticacidemia Due to Pdx1 Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 29 24 PDHX

Anatomical Context for Lacticacidemia Due to Pdx1 Deficiency

MalaCards organs/tissues related to Lacticacidemia Due to Pdx1 Deficiency:

39
Eye

Publications for Lacticacidemia Due to Pdx1 Deficiency

Variations for Lacticacidemia Due to Pdx1 Deficiency

ClinVar genetic disease variations for Lacticacidemia Due to Pdx1 Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PDHX NG_013368.1: g.5604_20276del14673 deletion Pathogenic GRCh38 Chromosome 11, 34916733: 34931405
2 PDHX NM_003477.2(PDHX): c.965_1023del59 (p.Asp322Alafs) deletion Pathogenic GRCh38 Chromosome 11, 34978124: 34978182
3 PDHX NM_003477.2(PDHX): c.87_90delGAAG (p.Lys30Glyfs) deletion Pathogenic rs724159828 GRCh38 Chromosome 11, 34916742: 34916745
4 PDHX NM_003477.2(PDHX): c.641+1G> A single nucleotide variant Pathogenic rs724159829 GRCh38 Chromosome 11, 34960519: 34960519
5 PDHX NM_003477.2(PDHX): c.1024-1G> A single nucleotide variant Pathogenic rs724159830 GRCh38 Chromosome 11, 34984569: 34984569
6 PDHX NM_003477.2(PDHX): c.620delC (p.Pro207Leufs) deletion Pathogenic rs724159979 GRCh38 Chromosome 11, 34960497: 34960497
7 PDHX AJ298105.1: g.61273_107768del46496ins6086 deletion Pathogenic
8 PDHX NM_003477.2(PDHX): c.742C> T (p.Gln248Ter) single nucleotide variant Pathogenic rs113309941 GRCh37 Chromosome 11, 34988287: 34988287
9 PDHX NM_003477.2(PDHX): c.1183-3088_1247+760del deletion Pathogenic GRCh38 Chromosome 11, 34989227: 34993139
10 PDHX NM_003477.2(PDHX): c.1336C> T (p.Arg446Ter) single nucleotide variant Pathogenic rs1135402725 GRCh37 Chromosome 11, 35016549: 35016549

Expression for Lacticacidemia Due to Pdx1 Deficiency

Search GEO for disease gene expression data for Lacticacidemia Due to Pdx1 Deficiency.

Pathways for Lacticacidemia Due to Pdx1 Deficiency

GO Terms for Lacticacidemia Due to Pdx1 Deficiency

Sources for Lacticacidemia Due to Pdx1 Deficiency

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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42 MeSH
43 MESH via Orphanet
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59 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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