MCID: PYR022
MIFTS: 51

Pyruvate Dehydrogenase E1-Alpha Deficiency

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Pyruvate Dehydrogenase E1-Alpha Deficiency

MalaCards integrated aliases for Pyruvate Dehydrogenase E1-Alpha Deficiency:

Name: Pyruvate Dehydrogenase E1-Alpha Deficiency 53 55 71 36 28 13
Pyruvate Dehydrogenase Complex Deficiency 53 49 24 55 36 28
Pyruvate Decarboxylase Deficiency 53 12 49 55 71 14
Pyruvate Dehydrogenase Deficiency 12 72 49 24 55 71
Pyruvate Dehydrogenase Complex Deficiency Disease 12 41 69
Pdh Deficiency 53 24 71
Pdhad 53 55 71
Ataxia with Lactic Acidosis I 53 71
Pdhc 49 55
Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency 49
Ataxia Intermittent with Pyruvate Dehydrogenase or Decarboxylase Deficiency 71
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency 55
Ataxia, Intermittent, with Pyruvate Dehydrogenase Deficiency 53
Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency 24
Ataxia, Intermittent, with Abnormal Pyruvate Metabolism 53
Ataxia Intermittent with Abnormal Pyruvate Metabolism 71
Pyruvate Dehydrogenase E1 Alpha Deficiency 69
Deficiency of Pyruvic Dehydrogenase 12
Ataxia with Lactic Acidosis 1 49
Ataxia with Lactic Acidosis 24
Pdhc Deficiency 24
Pdh 55

Characteristics:

Orphanet epidemiological data:

55
pyruvate dehydrogenase e1-alpha deficiency
Inheritance: X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood;
pyruvate dehydrogenase deficiency
Inheritance: Autosomal recessive,Not applicable,X-linked dominant; Prevalence: <1/1000000 (Europe); Age of onset: Childhood,Infancy,Neonatal; Age of death: adolescent,late childhood;

OMIM:

53
Miscellaneous:
highly variable phenotype
onset in infancy or early childhood
two main phenotypes, metabolic and neurologic
35% of patients have facial dysmorphism
a subset of patients improve with thiamine
severe infantile cases usually die by 6 months
females demonstrate lyonization with corresponding phenotypic variation

Inheritance:
x-linked dominant


HPO:

31
pyruvate dehydrogenase e1-alpha deficiency:
Onset and clinical course phenotypic variability infantile onset
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Pyruvate Dehydrogenase E1-Alpha Deficiency

NIH Rare Diseases : 49 Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. Progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. Severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake. Childhood-onset forms of the condition are often associated with intermittent periods of illness but normal neurological development. Prognosis is difficult to predict due to the many causes of the condition, but in most cases of neonatal and infantile onset, prognosis is described as poor. The most common form of pyruvate dehydrogenase deficiency is caused by mutations in the E1 alpha gene, and is inherited in an X-linked dominant manner; all other forms are caused by various genes and are inherited in an autosomal recessive manner. In addition to directly treating acidosis and providing alternative energy for the body, treatment typically includes dietary supplementation with thiamine, carnitine, and lipoic acids, although not all individuals respond to this therapy. Last updated: 1/4/2011

MalaCards based summary : Pyruvate Dehydrogenase E1-Alpha Deficiency, also known as pyruvate dehydrogenase complex deficiency, is related to lactic acidosis and pyruvate carboxylase deficiency, and has symptoms including ataxia, dyspnea and seizures. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (Pyruvate Dehydrogenase E1 Alpha 1 Subunit), and among its related pathways/superpathways are Pyruvate metabolism and Glycolysis / Gluconeogenesis. Affiliated tissues include eye, brain and cortex, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

OMIM : 53 Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). (312170)

UniProtKB/Swiss-Prot : 71 Pyruvate dehydrogenase E1-alpha deficiency: An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis.

Genetics Home Reference : 24 Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.

Disease Ontology : 12 A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.

Wikipedia : 72 Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD) is... more...

Related Diseases for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

# Related Disease Score Top Affiliating Genes
1 lactic acidosis 29.0 PC PDHA1 PDHX
2 pyruvate carboxylase deficiency 11.6
3 pyruvate dehydrogenase e2 deficiency 11.4
4 pyruvate dehydrogenase e1-beta deficiency 11.2
5 west syndrome 10.0
6 encephalopathy 9.9
7 pyruvate dehydrogenase e3-binding protein deficiency 9.9 PDHA1 PDHX
8 mitochondrial metabolism disease 9.4 HIBCH PDHA1
9 leigh syndrome 9.4 PDHA1 PDHB PDHX

Graphical network of the top 20 diseases related to Pyruvate Dehydrogenase E1-Alpha Deficiency:



Diseases related to Pyruvate Dehydrogenase E1-Alpha Deficiency

Symptoms & Phenotypes for Pyruvate Dehydrogenase E1-Alpha Deficiency

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
lethargy
dystonia
choreoathetosis
cerebral atrophy
more
Head And Neck Nose:
wide nasal bridge
flared nostrils
upturned nose

Growth Weight:
low birth weight

Metabolic Features:
lactic acidosis, severe
lactic acidosis, chronic
a subset of patients may have subtle increases in blood lactate
a subset of patients may have normal levels of blood lactate

Head And Neck Face:
frontal bossing
long philtrum

Head And Neck Head:
microcephaly
narrow head

Head And Neck Eyes:
abnormal eye movements
episodic ptosis

Laboratory Abnormalities:
increased blood pyruvic acid
increased blood lactic acid
increased csf pyruvic acid
increased csf lactic acid
increased blood alanine
more

Clinical features from OMIM:

312170

Human phenotypes related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

55 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 dyspnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002094
3 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
4 tremor 55 31 frequent (33%) Frequent (79-30%) HP:0001337
5 lethargy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001254
6 dystonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001332
7 abnormal pyramidal signs 55 31 frequent (33%) Frequent (79-30%) HP:0007256
8 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
9 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
10 frontal bossing 55 31 occasional (7.5%) Occasional (29-5%) HP:0002007
11 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
12 abnormality of eye movement 55 31 frequent (33%) Frequent (79-30%) HP:0000496
13 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
14 spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0001257
15 dysarthria 55 31 frequent (33%) Frequent (79-30%) HP:0001260
16 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
17 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
18 wide nasal bridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000431
19 abnormal facial shape 55 31 very rare (1%) Very frequent (99-80%) HP:0001999
20 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
21 feeding difficulties in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008872
22 long philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000343
23 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
24 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
25 multiple lipomas 55 31 occasional (7.5%) Occasional (29-5%) HP:0001012
26 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
27 narrow face 55 31 occasional (7.5%) Occasional (29-5%) HP:0000275
28 upslanted palpebral fissure 55 31 occasional (7.5%) Occasional (29-5%) HP:0000582
29 cerebral palsy 55 31 occasional (7.5%) Occasional (29-5%) HP:0100021
30 aplasia/hypoplasia of the corpus callosum 55 31 frequent (33%) Frequent (79-30%) HP:0007370
31 trigonocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000243
32 choreoathetosis 55 31 frequent (33%) Frequent (79-30%) HP:0001266
33 tachypnea 55 31 frequent (33%) Frequent (79-30%) HP:0002789
34 osteolytic defects of the middle phalanx of the 4th toe 55 31 frequent (33%) Frequent (79-30%) HP:0100453
35 agenesis of corpus callosum 31 HP:0001274
36 ptosis 31 HP:0000508
37 intellectual disability 31 HP:0001249
38 anteverted nares 31 HP:0000463
39 growth delay 55 Very frequent (99-80%)
40 increased serum lactate 31 HP:0002151
41 cerebral atrophy 31 HP:0002059
42 generalized hypotonia 31 HP:0001290
43 small for gestational age 31 HP:0001518
44 hyperalaninemia 31 HP:0003348
45 episodic ataxia 31 HP:0002131
46 increased csf lactate 31 HP:0002490
47 flared nostrils 31 HP:0000454
48 apneic episodes precipitated by illness, fatigue, stress 31 HP:0002872
49 basal ganglia cysts 31 HP:0006799
50 chronic lactic acidosis 31 HP:0004925

UMLS symptoms related to Pyruvate Dehydrogenase E1-Alpha Deficiency:


nasal flaring, seizures, lethargy

GenomeRNAi Phenotypes related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards Suite gene sharing:

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.5 HIBCH
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.5 PDHB
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.5 HIBCH
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.5 PC PDHB HIBCH
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.5 PC
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.5 PC
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.5 HIBCH
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.5 PDHB
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.5 HIBCH
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.5 PDHB
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.5 PC
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.5 HIBCH
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.5 HIBCH

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Alpha Deficiency

Search Clinical Trials , NIH Clinical Center for Pyruvate Dehydrogenase E1-Alpha Deficiency

Cochrane evidence based reviews: pyruvate dehydrogenase complex deficiency disease

Genetic Tests for Pyruvate Dehydrogenase E1-Alpha Deficiency

Genetic tests related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

# Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E1-Alpha Deficiency 28 PDHA1
2 Pyruvate Dehydrogenase Complex Deficiency 28

Anatomical Context for Pyruvate Dehydrogenase E1-Alpha Deficiency

MalaCards organs/tissues related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

38
Eye, Brain, Cortex

Publications for Pyruvate Dehydrogenase E1-Alpha Deficiency

Articles related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

(show all 20)
# Title Authors Year
1
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. ( 23467562 )
2013
2
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility. ( 22142326 )
2012
3
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. ( 21914562 )
2011
4
Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts. ( 21846590 )
2011
5
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. ( 20002125 )
2010
6
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. ( 20002461 )
2010
7
Novel mutation (R263X) of the E1I+ subunit in pyruvate dehydrogenase complex deficiency. ( 20958858 )
2010
8
Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit. ( 17923481 )
2008
9
A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene. ( 17043409 )
2006
10
Magnetic resonance spectroscopic investigation of mitochondrial fuel metabolism and energetics in cultured human fibroblasts: effects of pyruvate dehydrogenase complex deficiency and dichloroacetate. ( 16765624 )
2006
11
Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency. ( 11870584 )
2001
12
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. ( 10679936 )
2000
13
Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency. ( 10567050 )
1999
14
Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. ( 9467010 )
1998
15
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. ( 9619647 )
1998
16
Pyruvate dehydrogenase complex deficiency and absence of subunit X. ( 9501264 )
1998
17
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency. ( 8664900 )
1996
18
Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit. ( 7757088 )
1995
19
Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). ( 3103091 )
1987
20
Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency. ( 6438601 )
1984

Variations for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

71 (show all 20)
# Symbol AA change Variation ID SNP ID
1 PDHA1 p.Arg72Cys VAR_004949 rs863224148
2 PDHA1 p.His113Asp VAR_004950
3 PDHA1 p.Gly162Arg VAR_004951 rs866868610
4 PDHA1 p.Val167Met VAR_004952
5 PDHA1 p.Ala199Thr VAR_004953
6 PDHA1 p.Phe205Leu VAR_004954 rs137853254
7 PDHA1 p.Met210Val VAR_004955 rs794727843
8 PDHA1 p.Pro217Leu VAR_004956
9 PDHA1 p.Thr231Ala VAR_004957
10 PDHA1 p.Asp258Ala VAR_004958 rs137853253
11 PDHA1 p.Arg263Gly VAR_004959 rs137853259
12 PDHA1 p.Arg263Gln VAR_004960
13 PDHA1 p.His292Leu VAR_004961
14 PDHA1 p.Arg302Cys VAR_004962 rs137853252
15 PDHA1 p.Arg302His VAR_004963
16 PDHA1 p.Arg378His VAR_004966 rs137853250
17 PDHA1 p.Arg10Pro VAR_010238 rs137853257
18 PDHA1 p.Tyr243Asn VAR_021053 rs137853255
19 PDHA1 p.Arg288His VAR_021055 rs137853258
20 PDHA1 p.Asp315Asn VAR_021056 rs137853256

ClinVar genetic disease variations for Pyruvate Dehydrogenase E1-Alpha Deficiency:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDHA1 NM_000284.3(PDHA1): c.1167_1170delCAGT (p.Ser390Lysfs) deletion Pathogenic rs606231184 GRCh38 Chromosome X, 19359647: 19359650
2 PDHA1 NM_000284.3(PDHA1): c.934_940delAGTAAGA (p.Ser312Valfs) deletion Pathogenic rs606231185 GRCh38 Chromosome X, 19358950: 19358956
3 PDHA1 NM_000284.3(PDHA1): c.1133G> A (p.Arg378His) single nucleotide variant Pathogenic rs137853250 GRCh37 Chromosome X, 19377731: 19377731
4 PDHA1 NM_000284.3(PDHA1): c.937_939delAAG (p.Lys313del) deletion Pathogenic rs137853251 GRCh37 Chromosome X, 19377071: 19377073
5 PDHA1 NM_000284.3(PDHA1): c.1159_1160delAA (p.Lys387Valfs) deletion Pathogenic rs606231186 GRCh38 Chromosome X, 19359639: 19359640
6 PDHA1 NM_000284.3(PDHA1): c.1073_1092del20 (p.Glu358Glyfs) deletion Pathogenic rs606231187 GRCh38 Chromosome X, 19359553: 19359572
7 PDHA1 NM_000284.3(PDHA1) insertion Pathogenic rs606231188 GRCh38 Chromosome X, 19358913: 19358933
8 PDHA1 NM_000284.3(PDHA1): c.787C> G (p.Arg263Gly) single nucleotide variant Pathogenic rs137853259 GRCh37 Chromosome X, 19373831: 19373831
9 PDHA1 NM_000284.3(PDHA1): c.904C> T (p.Arg302Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853252 GRCh37 Chromosome X, 19377038: 19377038
10 PDHA1 NM_000284.3(PDHA1): c.1142_1145dupATCA (p.Trp383Serfs) duplication Pathogenic rs606231189 GRCh38 Chromosome X, 19359622: 19359625
11 PDHA1 NM_000284.3(PDHA1): c.773A> C (p.Asp258Ala) single nucleotide variant Pathogenic rs137853253 GRCh37 Chromosome X, 19373817: 19373817
12 PDHA1 NM_000284.3(PDHA1): c.615C> G (p.Phe205Leu) single nucleotide variant Pathogenic rs137853254 GRCh37 Chromosome X, 19373478: 19373478
13 PDHA1 NM_000284.3(PDHA1): c.727T> A (p.Tyr243Asn) single nucleotide variant Pathogenic rs137853255 GRCh37 Chromosome X, 19373590: 19373590
14 PDHA1 NM_000284.3(PDHA1): c.943G> A (p.Asp315Asn) single nucleotide variant Pathogenic rs137853256 GRCh37 Chromosome X, 19377077: 19377077
15 PDHA1 NM_000284.3(PDHA1): c.861_862insT (p.Arg288Serfs) insertion Pathogenic rs606231190 GRCh38 Chromosome X, 19357681: 19357682
16 PDHA1 NM_000284.3(PDHA1): c.29G> C (p.Arg10Pro) single nucleotide variant Pathogenic rs137853257 GRCh37 Chromosome X, 19362184: 19362184
17 PDHA1 PDHA1, 13-BP INS, EX10 insertion Pathogenic
18 PDHA1 NM_000284.3(PDHA1) duplication Pathogenic rs606231191 GRCh38 Chromosome X, 19359554: 19359589
19 PDHA1 NM_000284.3(PDHA1): c.863G> A (p.Arg288His) single nucleotide variant Pathogenic rs137853258 GRCh37 Chromosome X, 19375801: 19375801
20 PDHA1 NM_000284.3(PDHA1): c.*79_*90dupAGTCAATGAAAT duplication Pathogenic rs606231192 GRCh38 Chromosome X, 19359732: 19359743
21 PDHA1 NM_000284.3(PDHA1): c.648A> C (p.Leu216Phe) single nucleotide variant Pathogenic rs121917898 GRCh37 Chromosome X, 19373511: 19373511
22 PDHA1 NM_000284.3(PDHA1): c.422G> A (p.Arg141Gln) single nucleotide variant Pathogenic rs794729213 GRCh37 Chromosome X, 19371203: 19371203
23 PDHA1 NM_000284.3(PDHA1): c.1132C> T (p.Arg378Cys) single nucleotide variant Pathogenic rs863224147 GRCh37 Chromosome X, 19377730: 19377730
24 PDHA1 NM_000284.3(PDHA1): c.640T> C (p.Trp214Arg) single nucleotide variant Likely pathogenic rs886042089 GRCh37 Chromosome X, 19373503: 19373503
25 PDHA1 NM_000284.3(PDHA1): c.292-23A> G single nucleotide variant Pathogenic rs1057518702 GRCh38 Chromosome X, 19351258: 19351258
26 PDHA1 NM_000284.3(PDHA1): c.461A> G (p.His154Arg) single nucleotide variant Likely pathogenic rs1131692230 GRCh37 Chromosome X, 19371242: 19371242

Expression for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

Pathways for Pyruvate Dehydrogenase E1-Alpha Deficiency

Pathways related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Pyruvate metabolism hsa00620
2 Glycolysis / Gluconeogenesis hsa00010

Pathways related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 HIBCH PC PDHA1 PDHB PDHX
2
Show member pathways
13.23 HIBCH PDHA1 PDHB PDHX
3
Show member pathways
12.25 PC PDHA1 PDHB PDHX
4
Show member pathways
11.73 PDHA1 PDHB PDHX
5
Show member pathways
11.59 PC PDHA1 PDHB
6
Show member pathways
11.58 HIBCH PC PDHA1 PDHB
7 11.51 PDHA1 PDHB
8 11.48 PDHA1 PDHB
9
Show member pathways
11.32 PDHA1 PDHB PDHX
10 11.27 PDHA1 PDHB
11
Show member pathways
11.06 PC PDHA1 PDHB
12
Show member pathways
10.94 PDHA1 PDHB PDHX
13 10.88 HIBCH PC PDHA1 PDHX

GO Terms for Pyruvate Dehydrogenase E1-Alpha Deficiency

Cellular components related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.55 HIBCH PC PDHA1 PDHB PDHX
2 mitochondrial matrix GO:0005759 9.35 HIBCH PC PDHA1 PDHB PDHX
3 pyruvate dehydrogenase complex GO:0045254 8.8 PDHA1 PDHB PDHX

Biological processes related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.67 PC PDHA1 PDHB PDHX
2 glucose metabolic process GO:0006006 9.43 PDHA1 PDHB
3 cellular nitrogen compound metabolic process GO:0034641 9.43 PDHA1 PDHB PDHX
4 tricarboxylic acid cycle GO:0006099 9.4 PDHA1 PDHB
5 regulation of acetyl-CoA biosynthetic process from pyruvate GO:0010510 9.33 PDHA1 PDHB PDHX
6 acetyl-CoA biosynthetic process from pyruvate GO:0006086 9.32 PDHA1 PDHB
7 mitochondrial acetyl-CoA biosynthetic process from pyruvate GO:0061732 9.13 PDHA1 PDHB PDHX
8 pyruvate metabolic process GO:0006090 8.92 PC PDHA1 PDHB PDHX

Molecular functions related to Pyruvate Dehydrogenase E1-Alpha Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 pyruvate dehydrogenase (acetyl-transferring) activity GO:0004739 9.16 PDHA1 PDHB
2 pyruvate dehydrogenase activity GO:0004738 8.96 PDHA1 PDHB
3 pyruvate dehydrogenase (NAD+) activity GO:0034604 8.8 PDHA1 PDHB PDHX

Sources for Pyruvate Dehydrogenase E1-Alpha Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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