MCID: LCT005
MIFTS: 31

Lacticacidemia Due to Pdx1 Deficiency malady

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

Aliases & Classifications for Lacticacidemia Due to Pdx1 Deficiency

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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 67 24 65
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

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

HPO:

61
lacticacidemia due to pdx1 deficiency:
Onset and clinical course: variable expressivity, congenital onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 245349
Orphanet51 255182
ICD10 via Orphanet28 E74.4
MedGen34 C1855553
MeSH36 D000140
UMLS65 C1855553, C0268193

Summaries for Lacticacidemia Due to Pdx1 Deficiency

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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 dihydrolipoamide dehydrogenase deficiency and methemoglobinemia, type i, and has symptoms including poor gross motor coordination, poor fine motor coordination and increased serum pyruvate. An important gene associated with Lacticacidemia Due to Pdx1 Deficiency is PDHX (Pyruvate Dehydrogenase Complex Component X), and among its related pathways are Insulin secretion and Developmental Biology. Affiliated tissues include eye.

Description from OMIM:49 245349

Related Diseases for Lacticacidemia Due to Pdx1 Deficiency

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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

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Symptoms by clinical synopsis from OMIM:

245349

Clinical features from OMIM:

245349

HPO human phenotypes related to Lacticacidemia Due to Pdx1 Deficiency:

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

Drugs & Therapeutics for Lacticacidemia Due to Pdx1 Deficiency

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Interventional clinical trials:

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

Genetic Tests for Lacticacidemia Due to Pdx1 Deficiency

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Genetic tests related to Lacticacidemia Due to Pdx1 Deficiency:

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

Anatomical Context for Lacticacidemia Due to Pdx1 Deficiency

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

33
Eye

Animal Models for Lacticacidemia Due to Pdx1 Deficiency or affiliated genes

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Publications for Lacticacidemia Due to Pdx1 Deficiency

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Variations for Lacticacidemia Due to Pdx1 Deficiency

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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

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

Pathways for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

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GO Terms for genes affiliated with Lacticacidemia Due to Pdx1 Deficiency

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Sources for Lacticacidemia Due to Pdx1 Deficiency

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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