MCID: LCT005
MIFTS: 28

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 50 68 12
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 50 23 52 68 25 66
Lactic Acidemia Due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex 68
Branched Chain Alpha-Ketoacid Dehydrogenase Complex Deficiency 52
Pyruvate Dehydrogenase Complex Component E3 Deficiency 52
Pyruvate Dehydrogenase Protein X Component Deficiency 52
Glycine Cleavage System L Protein Deficiency 52
 
Nadh Cytochrome B5 Reductase Deficiency 66
Dihydrolipoyl Dehydrogenase Deficiency 52
Lipoamide Dehydrogenase Deficiency 52
2-Oxoglutarate Complex Deficiency 52
Diaphorase Deficiency 52
Pdhxd 68

Characteristics:

Orphanet epidemiological data:

52
pyruvate dehydrogenase e3-binding protein deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood

HPO:

62
lacticacidemia due to pdx1 deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset, variable expressivity


Classifications:



External Ids:

OMIM50 245349
Orphanet52 ORPHA255182
ICD10 via Orphanet29 E74.4
MedGen35 C1855553
MeSH37 D000140

Summaries for Lacticacidemia Due to Pdx1 Deficiency

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UniProtKB/Swiss-Prot:68 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, cyanosis and headache. An important gene associated with Lacticacidemia Due to Pdx1 Deficiency is PDHX (Pyruvate Dehydrogenase Complex Component X). Affiliated tissues include eye.

Description from OMIM:50 245349

Related Diseases for Lacticacidemia Due to Pdx1 Deficiency

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1dihydrolipoamide dehydrogenase deficiency11.5
2methemoglobinemia, type i11.3
3autosomal recessive congenital methemoglobinemia11.0
4lactic acidosis10.2
5methemoglobinemia10.0
6hepatitis10.0
7liver disease10.0
8myoglobinuria10.0
9pyruvate dehydrogenase e1-alpha deficiency10.0
10congenital methemoglobinemia9.9
11hereditary methemoglobinemia9.8
12severe combined immunodeficiency, b cell-negative9.5PDHX, PDX1

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

UMLS symptoms related to Lacticacidemia Due to Pdx1 Deficiency:


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

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 Deficiency25 23 PDHX

Anatomical Context for Lacticacidemia Due to Pdx1 Deficiency

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

34
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
2PDHXNG_013368.1: g.5604_20276del14673deletionPathogenic
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet