MCID: LCT005
MIFTS: 30

Lacticacidemia Due to Pdx1 Deficiency malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Lacticacidemia Due to Pdx1 Deficiency

About this section
Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 51Orphanet, 65UMLS, 22GeneTests, 24GTR, 28ICD10 via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Lacticacidemia Due to Pdx1 Deficiency:

Name: Lacticacidemia Due to Pdx1 Deficiency 49 11 67
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 22 51 24 65 67
Lactic Acidemia Due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex 67
Branched Chain Alpha-Ketoacid Dehydrogenase Complex Deficiency 51
Pyruvate Dehydrogenase Complex Component E3 Deficiency 51
Pyruvate Dehydrogenase Protein X Component Deficiency 51
Glycine Cleavage System L Protein Deficiency 51
 
Nadh Cytochrome B5 Reductase Deficiency 65
Dihydrolipoyl Dehydrogenase Deficiency 51
Lipoamide Dehydrogenase Deficiency 51
2-Oxoglutarate Complex Deficiency 51
Diaphorase Deficiency 51
Pdhxd 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
pyruvate dehydrogenase e3-binding protein deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood


External Ids:

OMIM49 245349
Orphanet51 255182
ICD10 via Orphanet28 E74.4
MedGen34 C1855553
MeSH36 D000140

Summaries for Lacticacidemia Due to Pdx1 Deficiency

About this section
UniProtKB/Swiss-Prot:67 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 and dihydrolipoamide dehydrogenase deficiency, and has symptoms including autosomal recessive inheritance, high palate and trigonocephaly. An important gene associated with Lacticacidemia Due to Pdx1 Deficiency is PDHX (Pyruvate Dehydrogenase Complex, Component X), and among its related pathways are Glucose / Energy Metabolism and Developmental Biology. Affiliated tissues include eye.

Description from OMIM:49 245349

Related Diseases for Lacticacidemia Due to Pdx1 Deficiency

About this section

Graphical network of diseases related to Lacticacidemia Due to Pdx1 Deficiency:



Diseases related to lacticacidemia due to pdx1 deficiency

Symptoms for Lacticacidemia Due to Pdx1 Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

245349

Clinical features from OMIM:

245349

HPO human phenotypes related to Lacticacidemia Due to Pdx1 Deficiency:

(show all 29)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 high palate HP:0000218
3 trigonocephaly HP:0000243
4 microcephaly HP:0000252
5 epicanthus HP:0000286
6 hypertelorism HP:0000316
7 abnormality of eye movement HP:0000496
8 optic atrophy HP:0000648
9 pectus excavatum HP:0000767
10 intellectual disability HP:0001249
11 seizures HP:0001250
12 ataxia HP:0001251
13 spastic paraplegia HP:0001258
14 global developmental delay HP:0001263
15 neonatal hypotonia HP:0001319
16 dystonia HP:0001332
17 partial agenesis of the corpus callosum HP:0001338
18 metabolic acidosis HP:0001942
19 unsteady gait HP:0002317
20 subependymal cysts HP:0002416
21 spastic tetraplegia HP:0002510
22 decreased activity of the pyruvate dehydrogenase (pdh) complex HP:0002928
23 lactic acidosis HP:0003128
24 hyperalaninemia HP:0003348
25 increased serum pyruvate HP:0003542
26 congenital onset HP:0003577
27 variable expressivity HP:0003828
28 poor fine motor coordination HP:0007010
29 poor gross motor coordination HP:0007015

Drugs & Therapeutics for Lacticacidemia Due to Pdx1 Deficiency

About this section

Interventional clinical trials:

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

Genetic Tests for Lacticacidemia Due to Pdx1 Deficiency

About this section

Genetic tests related to Lacticacidemia Due to Pdx1 Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E3-Binding Protein Deficiency22 24 PDHX

Anatomical Context for Lacticacidemia Due to Pdx1 Deficiency

About this section

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

33
Eye

Animal Models for Lacticacidemia Due to Pdx1 Deficiency or affiliated genes

About this section

Publications for Lacticacidemia Due to Pdx1 Deficiency

About this section

Variations for Lacticacidemia Due to Pdx1 Deficiency

About this section

Clinvar genetic disease variations for Lacticacidemia Due to Pdx1 Deficiency:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1PDHXPDHX, ARG446TERsingle nucleotide variantPathogenic
2PDHXPDHX, 85-BP DEL, NT78deletionPathogenic
3PDHXNM_003477.2(PDHX): c.965_1023del59 (p.Asp322Alafs)deletionPathogenicGRCh38Chr 11, 34978124: 34978182
4PDHXNM_003477.2(PDHX): c.87_90delGAAG (p.Lys30Glyfs)deletionPathogenicrs724159828GRCh38Chr 11, 34916742: 34916745
5PDHXNM_003477.2(PDHX): c.641+1G> Asingle nucleotide variantPathogenicrs724159829GRCh38Chr 11, 34960519: 34960519
6PDHXNM_003477.2(PDHX): c.1024-1G> Asingle nucleotide variantPathogenicrs724159830GRCh38Chr 11, 34984569: 34984569
7PDHXNM_003477.2(PDHX): c.620delC (p.Pro207Leufs)deletionPathogenicrs724159979GRCh38Chr 11, 34960497: 34960497
8PDHXAJ298105.1: g.61273_107768del46496ins6086deletionPathogenic
9PDHXNM_003477.2(PDHX): c.742C> T (p.Gln248Ter)single nucleotide variantPathogenicrs113309941GRCh37Chr 11, 34988287: 34988287
10PDHXNM_003477.2(PDHX): c.1183-3088_1247+760deldeletionPathogenicGRCh38Chr 11, 34989227: 34993139
11PDHXNM_003477.2(PDHX): c.44G> A (p.Arg15His)single nucleotide variantPathogenicrs387906998GRCh37Chr 11, 34938246: 34938246

Expression for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

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

Pathways for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

About this section

GO Terms for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

About this section

Sources for Lacticacidemia Due to Pdx1 Deficiency

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet