PDHXD
MCID: LCT005
MIFTS: 28

Lacticacidemia Due to Pdx1 Deficiency (PDHXD) malady

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

Aliases & Classifications for Lacticacidemia Due to Pdx1 Deficiency

Aliases & Descriptions for Lacticacidemia Due to Pdx1 Deficiency:

Name: Lacticacidemia Due to Pdx1 Deficiency 54 66 13
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 54 24 56 66 29 69
Lactic Acidemia Due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex 66
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 66

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;

HPO:

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


Classifications:



External Ids:

OMIM 54 245349
Orphanet 56 ORPHA255182
ICD10 via Orphanet 34 E74.4
MedGen 40 C1855553
MeSH 42 D000140

Summaries for Lacticacidemia Due to Pdx1 Deficiency

UniProtKB/Swiss-Prot : 66 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 dihydrolipoamide dehydrogenase deficiency and methemoglobinemia, type i, and has symptoms including ataxia, seizures and dystonia. 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

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 by clinical synopsis from OMIM:

245349

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 ataxia 32 HP:0001251
2 seizures 32 HP:0001250
3 dystonia 32 HP:0001332
4 hypertelorism 32 HP:0000316
5 pectus excavatum 32 HP:0000767
6 high palate 32 HP:0000218
7 abnormality of eye movement 32 HP:0000496
8 intellectual disability 32 HP:0001249
9 global developmental delay 32 HP:0001263
10 microcephaly 32 HP:0000252
11 optic atrophy 32 HP:0000648
12 neonatal hypotonia 32 HP:0001319
13 spastic tetraplegia 32 HP:0002510
14 epicanthus 32 HP:0000286
15 poor fine motor coordination 32 HP:0007010
16 lactic acidosis 32 HP:0003128
17 metabolic acidosis 32 HP:0001942
18 spastic paraplegia 32 HP:0001258
19 partial agenesis of the corpus callosum 32 HP:0001338
20 increased serum pyruvate 32 HP:0003542
21 trigonocephaly 32 HP:0000243
22 unsteady gait 32 HP:0002317
23 hyperalaninemia 32 HP:0003348
24 poor gross motor coordination 32 HP:0007015
25 subependymal cysts 32 HP:0002416
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 PDHX, ARG446TER single nucleotide variant Pathogenic

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
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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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
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