MCID: LCT005
MIFTS: 27

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 52 70 12
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 52 24 54 70 27 68
Lactic Acidemia Due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex 70
Branched Chain Alpha-Ketoacid Dehydrogenase Complex Deficiency 54
Pyruvate Dehydrogenase Complex Component E3 Deficiency 54
Pyruvate Dehydrogenase Protein X Component Deficiency 54
Glycine Cleavage System L Protein Deficiency 54
 
Nadh Cytochrome B5 Reductase Deficiency 68
Dihydrolipoyl Dehydrogenase Deficiency 54
Lipoamide Dehydrogenase Deficiency 54
2-Oxoglutarate Complex Deficiency 54
Diaphorase Deficiency 54
Pdhxd 70

Characteristics:

Orphanet epidemiological data:

54
pyruvate dehydrogenase e3-binding protein deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood

HPO:

64
lacticacidemia due to pdx1 deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset, variable expressivity

Classifications:



External Ids:

OMIM52 245349
Orphanet54 ORPHA255182
ICD10 via Orphanet31 E74.4
MedGen37 C1855553
MeSH39 D000140

Summaries for Lacticacidemia Due to Pdx1 Deficiency

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UniProtKB/Swiss-Prot:70 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 high palate, trigonocephaly and microcephaly. An important gene associated with Lacticacidemia Due to Pdx1 Deficiency is PDHX (Pyruvate Dehydrogenase Complex Component X). Affiliated tissues include eye.

Description from OMIM:52 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 deficiency11.4
2methemoglobinemia, type i11.0
3autosomal recessive congenital methemoglobinemia10.9
4pyruvate dehydrogenase e1-alpha deficiency10.9
5lactic acidosis10.0
6methemoglobinemia9.9
7hepatitis9.9
8liver disease9.9
9myoglobinuria9.9
10congenital methemoglobinemia9.8
11hereditary methemoglobinemia9.7
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 & Phenotypes for Lacticacidemia Due to Pdx1 Deficiency

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Symptoms by clinical synopsis from OMIM:

245349

Clinical features from OMIM:

245349

Human phenotypes related to Lacticacidemia Due to Pdx1 Deficiency:

 64 (show all 26)
id Description HPO Frequency HPO Source Accession
1 high palate64 HP:0000218
2 trigonocephaly64 HP:0000243
3 microcephaly64 HP:0000252
4 epicanthus64 HP:0000286
5 hypertelorism64 HP:0000316
6 abnormality of eye movement64 HP:0000496
7 optic atrophy64 HP:0000648
8 pectus excavatum64 HP:0000767
9 intellectual disability64 HP:0001249
10 seizures64 HP:0001250
11 ataxia64 HP:0001251
12 spastic paraplegia64 HP:0001258
13 global developmental delay64 HP:0001263
14 neonatal hypotonia64 HP:0001319
15 dystonia64 HP:0001332
16 partial agenesis of the corpus callosum64 HP:0001338
17 metabolic acidosis64 HP:0001942
18 unsteady gait64 HP:0002317
19 subependymal cysts64 HP:0002416
20 spastic tetraplegia64 HP:0002510
21 decreased activity of the pyruvate dehydrogenase complex64 HP:0002928
22 lactic acidosis64 HP:0003128
23 hyperalaninemia64 HP:0003348
24 increased serum pyruvate64 HP:0003542
25 poor fine motor coordination64 HP:0007010
26 poor gross motor coordination64 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 Deficiency27 24 PDHX

Anatomical Context for Lacticacidemia Due to Pdx1 Deficiency

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

36
Eye

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, ARG446TERSNVPathogenicChr na, -1: -1
2PDHXNG_013368.1: g.5604_20276del14673deletionPathogenicGRCh38Chr 11, 34916733: 34931405
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> ASNVPathogenicrs724159829GRCh38Chr 11, 34960519: 34960519
6PDHXNM_003477.2(PDHX): c.1024-1G> ASNVPathogenicrs724159830GRCh38Chr 11, 34984569: 34984569
7PDHXNM_003477.2(PDHX): c.620delC (p.Pro207Leufs)deletionPathogenicrs724159979GRCh38Chr 11, 34960497: 34960497
8PDHXAJ298105.1: g.61273_107768del46496ins6086deletionPathogenicChr na, -1: -1
9PDHXNM_003477.2(PDHX): c.742C> T (p.Gln248Ter)SNVPathogenicrs113309941GRCh37Chr 11, 34988287: 34988287
10PDHXNM_003477.2(PDHX): c.1183-3088_1247+760deldeletionPathogenicGRCh38Chr 11, 34989227: 34993139
11PDHXNM_003477.2(PDHX): c.44G> A (p.Arg15His)SNVPathogenicrs387906998GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet