PDHAD
MCID: PYR022
MIFTS: 28

Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHAD) malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Rare diseases categories

Summaries for Pyruvate Dehydrogenase E1-Alpha Deficiency

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OMIM:46 Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in... (312170) more...

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 abnormal facial shape, microcephaly and long philtrum. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (pyruvate dehydrogenase (lipoamide) alpha 1).

Aliases & Classifications for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
48Orphanet, 61UMLS, 21GeneTests, 23GTR, 46OMIM, 27ICD10 via Orphanet
See all sources

Pyruvate Dehydrogenase E1-Alpha Deficiency, Aliases & Descriptions:

Name: Pyruvate Dehydrogenase E1-Alpha Deficiency 21 23 46 48 61
Pyruvate Decarboxylase Deficiency 48 61
 
Pdhad 48 61
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 Orphanet27 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 Deficiency21 23 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:

63 (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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pyruvate Dehydrogenase E1-Alpha Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet