PDHAD
MCID: PYR022
MIFTS: 24

Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHAD) malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Rare diseases categories
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Summaries for Pyruvate Dehydrogenase E1-Alpha Deficiency

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MalaCards based summary: Pyruvate Dehydrogenase E1-Alpha Deficiency, also known as pyruvate decarboxylase deficiency, is related to pyruvate decarboxylase deficiency and lactic acidosis, and has symptoms including An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1).

Description from OMIM:46 312170

Aliases & Classifications for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Pyruvate Dehydrogenase E1-Alpha Deficiency, Aliases & Descriptions:

Name: Pyruvate Dehydrogenase E1-Alpha Deficiency 20 22 46 48 62
Pyruvate Decarboxylase Deficiency 48 62
 
Pdhad 48 62
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
pyruvate dehydrogenase e1-alpha deficiency:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


External Ids:

OMIM46 312170
ICD10 via Orphanet26 E74.4

Related Diseases for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Diseases related to Pyruvate Dehydrogenase E1-Alpha Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pyruvate decarboxylase deficiency10.9
2lactic acidosis10.5
3ataxia10.2

Symptoms for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Symptoms by clinical synopsis from OMIM:

312170

Clinical features from OMIM:

312170

HPO human phenotypes related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

(show all 32)
id Description Frequency HPO Source Accession
1 abnormal facial shape 35% HP:0001999
2 microcephaly HP:0000252
3 long philtrum HP:0000343
4 wide nasal bridge HP:0000431
5 flared nostrils HP:0000454
6 anteverted nares HP:0000463
7 abnormality of eye movement HP:0000496
8 ptosis HP:0000508
9 intellectual disability HP:0001249
10 seizures HP:0001250
11 muscular hypotonia HP:0001252
12 lethargy HP:0001254
13 global developmental delay HP:0001263
14 choreoathetosis HP:0001266
15 agenesis of corpus callosum HP:0001274
16 dystonia HP:0001332
17 x-linked dominant inheritance HP:0001423
18 small for gestational age HP:0001518
19 frontal bossing HP:0002007
20 cerebral atrophy HP:0002059
21 ventriculomegaly HP:0002119
22 episodic ataxia HP:0002131
23 increased serum lactate HP:0002151
24 increased csf lactate HP:0002490
25 apneic episodes precipitated by illness, fatigue, stress HP:0002872
26 decreased activity of the pyruvate dehydrogenase (pdh) complex HP:0002928
27 hyperalaninemia HP:0003348
28 infantile onset HP:0003593
29 phenotypic variability HP:0003812
30 severe lactic acidosis HP:0004900
31 chronic lactic acidosis HP:0004925
32 basal ganglia cysts HP:0006799

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Drug clinical trials:

Search ClinicalTrials for Pyruvate Dehydrogenase E1-Alpha Deficiency

Search NIH Clinical Center for Pyruvate Dehydrogenase E1-Alpha Deficiency

Genetic Tests for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Genetic tests related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E1-Alpha Deficiency20 22 PDHA1

Anatomical Context for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Animal Models for Pyruvate Dehydrogenase E1-Alpha Deficiency or affiliated genes

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Publications for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Variations for Pyruvate Dehydrogenase E1-Alpha Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Pyruvate Dehydrogenase E1-Alpha Deficiency:

64 (show all 17)
id Symbol AA change Variation ID SNP ID
1PDHA1p.Arg72CysVAR_004949
2PDHA1p.His113AspVAR_004950
3PDHA1p.Gly162ArgVAR_004951
4PDHA1p.Val167MetVAR_004952
5PDHA1p.Ala199ThrVAR_004953
6PDHA1p.Met210ValVAR_004955
7PDHA1p.Pro217LeuVAR_004956
8PDHA1p.Thr231AlaVAR_004957
9PDHA1p.Arg263GlyVAR_004959rs28936081
10PDHA1p.Arg263GlnVAR_004960
11PDHA1p.His292LeuVAR_004961
12PDHA1p.Arg302CysVAR_004962
13PDHA1p.Arg302HisVAR_004963
14PDHA1p.Arg10ProVAR_010238
15PDHA1p.Tyr243AsnVAR_021053
16PDHA1p.Arg288HisVAR_021055
17PDHA1p.Asp315AsnVAR_021056rs28935187

Expression for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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Expression patterns in normal tissues for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

Search GEO for disease gene expression data for Pyruvate Dehydrogenase E1-Alpha Deficiency.

Pathways for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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Compounds for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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GO Terms for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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Products for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for Pyruvate Dehydrogenase E1-Alpha Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet