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 51 69 12
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 51 24 53 69 26 67
Lactic Acidemia Due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex 69
Branched Chain Alpha-Ketoacid Dehydrogenase Complex Deficiency 53
Pyruvate Dehydrogenase Complex Component E3 Deficiency 53
Pyruvate Dehydrogenase Protein X Component Deficiency 53
Glycine Cleavage System L Protein Deficiency 53
 
Nadh Cytochrome B5 Reductase Deficiency 67
Dihydrolipoyl Dehydrogenase Deficiency 53
Lipoamide Dehydrogenase Deficiency 53
2-Oxoglutarate Complex Deficiency 53
Diaphorase Deficiency 53
Pdhxd 69

Characteristics:

Orphanet epidemiological data:

53
pyruvate dehydrogenase e3-binding protein deficiency:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood

HPO:

63
lacticacidemia due to pdx1 deficiency:
Inheritance: autosomal recessive inheritance
Onset and clinical course: congenital onset, variable expressivity

Classifications:



External Ids:

OMIM51 245349
Orphanet53 ORPHA255182
ICD10 via Orphanet30 E74.4
MedGen36 C1855553
MeSH38 D000140

Summaries for Lacticacidemia Due to Pdx1 Deficiency

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UniProtKB/Swiss-Prot:69 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:51 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 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:

 63 (show all 26)
id Description HPO Frequency HPO Source Accession
1 high palate63 HP:0000218
2 trigonocephaly63 HP:0000243
3 microcephaly63 HP:0000252
4 epicanthus63 HP:0000286
5 hypertelorism63 HP:0000316
6 abnormality of eye movement63 HP:0000496
7 optic atrophy63 HP:0000648
8 pectus excavatum63 HP:0000767
9 intellectual disability63 HP:0001249
10 seizures63 HP:0001250
11 ataxia63 HP:0001251
12 spastic paraplegia63 HP:0001258
13 global developmental delay63 HP:0001263
14 neonatal hypotonia63 HP:0001319
15 dystonia63 HP:0001332
16 partial agenesis of the corpus callosum63 HP:0001338
17 metabolic acidosis63 HP:0001942
18 unsteady gait63 HP:0002317
19 subependymal cysts63 HP:0002416
20 spastic tetraplegia63 HP:0002510
21 decreased activity of the pyruvate dehydrogenase complex63 HP:0002928
22 lactic acidosis63 HP:0003128
23 hyperalaninemia63 HP:0003348
24 increased serum pyruvate63 HP:0003542
25 poor fine motor coordination63 HP:0007010
26 poor gross motor coordination63 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 Deficiency26 24 PDHX

Anatomical Context for Lacticacidemia Due to Pdx1 Deficiency

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

35
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, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet