MCID: PYR022
MIFTS: 51

Pyruvate Dehydrogenase E1-Alpha Deficiency

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic 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 57 59 75 37 29 13 6 40
Pyruvate Dehydrogenase Complex Deficiency 57 53 25 59 37 29 6
Pyruvate Decarboxylase Deficiency 57 12 53 59 75 15
Pyruvate Dehydrogenase Deficiency 12 76 53 25 59 75
Pdh Deficiency 57 53 25 75
Pyruvate Dehydrogenase Complex Deficiency Disease 12 44 73
Pdhad 57 59 75
Ataxia with Lactic Acidosis I 57 75
Pdhc 53 59
Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency 53
Ataxia Intermittent with Pyruvate Dehydrogenase or Decarboxylase Deficiency 75
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency 59
Ataxia, Intermittent, with Pyruvate Dehydrogenase Deficiency 57
Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency 25
Ataxia, Intermittent, with Abnormal Pyruvate Metabolism 57
Ataxia Intermittent with Abnormal Pyruvate Metabolism 75
Pyruvate Dehydrogenase E1 Alpha Deficiency 73
Deficiency of Pyruvic Dehydrogenase 12
Ataxia with Lactic Acidosis 1 53
Ataxia with Lactic Acidosis 25
Pdhc Deficiency 25
Pdc Deficiency 53
Pdh 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
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 : 53 Pyruvate dehydrogenase complex (PDC) deficiency is a type of metabolic disease. This means that the body is not able to efficiently break down nutrients in food to be used for energy. Symptoms of PDC deficiency include signs of metabolic dysfunction such as extreme tiredness (lethargy), poor feeding, and rapid breathing (tachypnea). Other symptoms may include signs of neurological dysfunction such as developmental delay, periods of uncontrolled movements (ataxia), low muscle tone (hypotonia), abnormal eye movements, and seizures. Symptoms usually begin in infancy, but signs can first appear at birth or later in childhood. Symptoms may be especially apparent during times of illness, stress, or after meals with high amounts of carbohydrates. The most common form of PDC deficiency is caused by genetic changes (mutations or pathogenic variants) in the PDHA1 gene. These pathogenic variants are inherited in an X-linked manner. Pathogenic variants in other genes including PDHB, DLAT, PDHX, DLD, and PDP1 can also cause PDC deficiency. These pathogenic variants are inherited in an autosomal recessive manner. PDC deficiency is diagnosed based on laboratory tests including blood tests, analysis of the urine, and brain MRI. The diagnosis can be confirmed by analyzing the pyruvate dehydrogenase enzyme. Treatment for PDC deficiency includes dietary supplementation with carnitine, thiamine, and lipoic acid. 

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 lethargy, seizures and nasal flaring. 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 brain, testes and eye, and related phenotypes are hypertelorism and pectus excavatum

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.

Genetics Home Reference : 25 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.

OMIM : 57 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 : 75 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.

Wikipedia : 76 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 lactic acidosis 28.4 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 10.0
7 epileptic encephalopathy, early infantile, 15 9.9
8 epilepsy 9.9
9 infantile epileptic encephalopathy 9.9
10 pyruvate dehydrogenase e3-binding protein deficiency 9.7 PDHA1 PDHX
11 leigh syndrome 8.9 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:

57
Head And Neck Face:
frontal bossing
long philtrum

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

Neurologic Central Nervous System:
seizures
dystonia
choreoathetosis
lethargy
cerebral atrophy
more
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:

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
3 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
4 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
5 abnormality of eye movement 59 32 frequent (33%) Frequent (79-30%) HP:0000496
6 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
7 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
8 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
10 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
11 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
12 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
13 abnormal pyramidal signs 59 32 frequent (33%) Frequent (79-30%) HP:0007256
14 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
15 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
16 abnormal facial shape 59 32 very rare (1%) Very frequent (99-80%) HP:0001999
17 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
18 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
19 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
20 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
21 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
22 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
23 dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001332
24 multiple lipomas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001012
25 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
26 narrow face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000275
27 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
28 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
29 cerebral palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100021
30 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
31 aplasia/hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0007370
32 trigonocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000243
33 tachypnea 59 32 frequent (33%) Frequent (79-30%) HP:0002789
34 osteolytic defects of the middle phalanx of the 4th toe 59 32 frequent (33%) Frequent (79-30%) HP:0100453
35 agenesis of corpus callosum 32 HP:0001274
36 ptosis 32 HP:0000508
37 intellectual disability 32 HP:0001249
38 anteverted nares 32 HP:0000463
39 growth delay 59 Very frequent (99-80%)
40 increased serum lactate 32 HP:0002151
41 cerebral atrophy 32 HP:0002059
42 generalized hypotonia 32 HP:0001290
43 small for gestational age 32 HP:0001518
44 hyperalaninemia 32 HP:0003348
45 episodic ataxia 32 HP:0002131
46 increased csf lactate 32 HP:0002490
47 decreased activity of the pyruvate dehydrogenase complex 32 HP:0002928
48 flared nostrils 32 HP:0000454
49 apneic episodes precipitated by illness, fatigue, stress 32 HP:0002872
50 basal ganglia cysts 32 HP:0006799

UMLS symptoms related to Pyruvate Dehydrogenase E1-Alpha Deficiency:


lethargy, seizures, nasal flaring

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.72 HIBCH
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.72 PDHB
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.72 HIBCH
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.72 PC PDHB HIBCH
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.72 PC
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.72 PC
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.72 MAP3K15
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.72 HIBCH
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.72 PDHB MAP3K15
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.72 HIBCH
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.72 MAP3K15
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.72 MAP3K15
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.72 PDHB
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.72 PC
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.72 MAP3K15
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.72 HIBCH
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.72 HIBCH
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.72 MAP3K15

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 29 PDHA1
2 Pyruvate Dehydrogenase Complex Deficiency 29

Anatomical Context for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

41
Brain, Testes, Eye, Cortex

Publications for Pyruvate Dehydrogenase E1-Alpha Deficiency

Articles related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

(show all 23)
# Title Authors Year
1
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. ( 29681092 )
2018
2
Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview. ( 26354166 )
2015
3
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. ( 23467562 )
2013
4
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility. ( 22142326 )
2012
5
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. ( 21914562 )
2011
6
Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts. ( 21846590 )
2011
7
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. ( 20002461 )
2010
8
Novel mutation (R263X) of the E1I+ subunit in pyruvate dehydrogenase complex deficiency. ( 20958858 )
2010
9
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. ( 20002125 )
2010
10
Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit. ( 17923481 )
2008
11
Brain MR imaging and proton MR spectroscopy in female mice with pyruvate dehydrogenase complex deficiency. ( 17342409 )
2007
12
A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene. ( 17043409 )
2006
13
Magnetic resonance spectroscopic investigation of mitochondrial fuel metabolism and energetics in cultured human fibroblasts: effects of pyruvate dehydrogenase complex deficiency and dichloroacetate. ( 16765624 )
2006
14
Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency. ( 11870584 )
2001
15
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. ( 10679936 )
2000
16
Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency. ( 10567050 )
1999
17
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. ( 9619647 )
1998
18
Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. ( 9467010 )
1998
19
Pyruvate dehydrogenase complex deficiency and absence of subunit X. ( 9501264 )
1998
20
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency. ( 8664900 )
1996
21
Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit. ( 7757088 )
1995
22
Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). ( 3103091 )
1987
23
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:

75 (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 top 50) (show all 379)
# 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.1167_1170delCAGT (p.Ser390Lysfs) deletion Pathogenic rs606231184 GRCh37 Chromosome X, 19377765: 19377768
3 PDHA1 NM_000284.3(PDHA1): c.934_940delAGTAAGA (p.Ser312Valfs) deletion Pathogenic rs606231185 GRCh38 Chromosome X, 19358950: 19358956
4 PDHA1 NM_000284.3(PDHA1): c.934_940delAGTAAGA (p.Ser312Valfs) deletion Pathogenic rs606231185 GRCh37 Chromosome X, 19377068: 19377074
5 PDHA1 NM_001173454.1(PDHA1): c.1247G> A (p.Arg416His) single nucleotide variant Pathogenic rs137853250 GRCh37 Chromosome X, 19377731: 19377731
6 PDHA1 NM_001173454.1(PDHA1): c.1247G> A (p.Arg416His) single nucleotide variant Pathogenic rs137853250 GRCh38 Chromosome X, 19359613: 19359613
7 PDHA1 NM_000284.3(PDHA1): c.937_939delAAG (p.Lys313del) deletion Pathogenic rs137853251 GRCh37 Chromosome X, 19377071: 19377073
8 PDHA1 NM_000284.3(PDHA1): c.937_939delAAG (p.Lys313del) deletion Pathogenic rs137853251 GRCh38 Chromosome X, 19358953: 19358955
9 PDHA1 NM_000284.3(PDHA1): c.1159_1160delAA (p.Lys387Valfs) deletion Pathogenic rs606231186 GRCh38 Chromosome X, 19359639: 19359640
10 PDHA1 NM_000284.3(PDHA1): c.1159_1160delAA (p.Lys387Valfs) deletion Pathogenic rs606231186 GRCh37 Chromosome X, 19377757: 19377758
11 PDHA1 NM_000284.3(PDHA1): c.1073_1092del20 (p.Glu358Glyfs) deletion Pathogenic rs606231187 GRCh38 Chromosome X, 19359553: 19359572
12 PDHA1 NM_000284.3(PDHA1): c.1073_1092del20 (p.Glu358Glyfs) deletion Pathogenic rs606231187 GRCh37 Chromosome X, 19377671: 19377690
13 PDHA1 NM_000284.3(PDHA1) insertion Pathogenic rs606231188 GRCh38 Chromosome X, 19358913: 19358933
14 PDHA1 NM_000284.3(PDHA1) insertion Pathogenic rs606231188 GRCh37 Chromosome X, 19377031: 19377051
15 PDHA1 NM_000284.3(PDHA1): c.787C> G (p.Arg263Gly) single nucleotide variant Pathogenic rs137853259 GRCh37 Chromosome X, 19373831: 19373831
16 PDHA1 NM_000284.3(PDHA1): c.787C> G (p.Arg263Gly) single nucleotide variant Pathogenic rs137853259 GRCh38 Chromosome X, 19355713: 19355713
17 PDHA1 NM_000284.3(PDHA1): c.904C> T (p.Arg302Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853252 GRCh37 Chromosome X, 19377038: 19377038
18 PDHA1 NM_000284.3(PDHA1): c.904C> T (p.Arg302Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853252 GRCh38 Chromosome X, 19358920: 19358920
19 PDHA1 NM_000284.3(PDHA1): c.1142_1145dupATCA (p.Trp383Serfs) duplication Pathogenic rs606231189 GRCh38 Chromosome X, 19359622: 19359625
20 PDHA1 NM_000284.3(PDHA1): c.1142_1145dupATCA (p.Trp383Serfs) duplication Pathogenic rs606231189 GRCh37 Chromosome X, 19377740: 19377743
21 PDHA1 NM_000284.3(PDHA1): c.773A> C (p.Asp258Ala) single nucleotide variant Pathogenic rs137853253 GRCh37 Chromosome X, 19373817: 19373817
22 PDHA1 NM_000284.3(PDHA1): c.773A> C (p.Asp258Ala) single nucleotide variant Pathogenic rs137853253 GRCh38 Chromosome X, 19355699: 19355699
23 PDHA1 NM_000284.3(PDHA1): c.615C> G (p.Phe205Leu) single nucleotide variant Pathogenic rs137853254 GRCh37 Chromosome X, 19373478: 19373478
24 PDHA1 NM_000284.3(PDHA1): c.615C> G (p.Phe205Leu) single nucleotide variant Pathogenic rs137853254 GRCh38 Chromosome X, 19355360: 19355360
25 PDHA1 NM_000284.3(PDHA1): c.727T> A (p.Tyr243Asn) single nucleotide variant Pathogenic rs137853255 GRCh37 Chromosome X, 19373590: 19373590
26 PDHA1 NM_000284.3(PDHA1): c.727T> A (p.Tyr243Asn) single nucleotide variant Pathogenic rs137853255 GRCh38 Chromosome X, 19355472: 19355472
27 PDHA1 NM_000284.3(PDHA1): c.943G> A (p.Asp315Asn) single nucleotide variant Pathogenic rs137853256 GRCh37 Chromosome X, 19377077: 19377077
28 PDHA1 NM_000284.3(PDHA1): c.943G> A (p.Asp315Asn) single nucleotide variant Pathogenic rs137853256 GRCh38 Chromosome X, 19358959: 19358959
29 PDHA1 NM_000284.3(PDHA1): c.861_862insT (p.Arg288Serfs) insertion Pathogenic rs606231190 GRCh38 Chromosome X, 19357681: 19357682
30 PDHA1 NM_000284.3(PDHA1): c.861_862insT (p.Arg288Serfs) insertion Pathogenic rs606231190 GRCh37 Chromosome X, 19375799: 19375800
31 PDHA1 NM_000284.3(PDHA1): c.29G> C (p.Arg10Pro) single nucleotide variant Pathogenic rs137853257 GRCh37 Chromosome X, 19362184: 19362184
32 PDHA1 NM_000284.3(PDHA1): c.29G> C (p.Arg10Pro) single nucleotide variant Pathogenic rs137853257 GRCh38 Chromosome X, 19344066: 19344066
33 PDHA1 PDHA1, 13-BP INS, EX10 insertion Pathogenic
34 PDHA1 NM_000284.3(PDHA1) duplication Pathogenic rs606231191 GRCh38 Chromosome X, 19359554: 19359589
35 PDHA1 NM_000284.3(PDHA1) duplication Pathogenic rs606231191 GRCh37 Chromosome X, 19377672: 19377707
36 PDHA1 NM_000284.3(PDHA1): c.863G> A (p.Arg288His) single nucleotide variant Pathogenic rs137853258 GRCh37 Chromosome X, 19375801: 19375801
37 PDHA1 NM_000284.3(PDHA1): c.863G> A (p.Arg288His) single nucleotide variant Pathogenic rs137853258 GRCh38 Chromosome X, 19357683: 19357683
38 PDHA1 NM_000284.3(PDHA1): c.*79_*90dupAGTCAATGAAAT duplication Pathogenic rs606231192 GRCh38 Chromosome X, 19359732: 19359743
39 PDHA1 NM_000284.3(PDHA1): c.*79_*90dupAGTCAATGAAAT duplication Pathogenic rs606231192 GRCh37 Chromosome X, 19377850: 19377861
40 PDHA1 NM_000284.3(PDHA1): c.648A> C (p.Leu216Phe) single nucleotide variant Pathogenic rs121917898 GRCh37 Chromosome X, 19373511: 19373511
41 PDHA1 NM_000284.3(PDHA1): c.648A> C (p.Leu216Phe) single nucleotide variant Pathogenic rs121917898 GRCh38 Chromosome X, 19355393: 19355393
42 PDHA1 NM_000284.3(PDHA1): c.422G> A (p.Arg141Gln) single nucleotide variant Pathogenic rs794729213 GRCh37 Chromosome X, 19371203: 19371203
43 PDHA1 NM_000284.3(PDHA1): c.422G> A (p.Arg141Gln) single nucleotide variant Pathogenic rs794729213 GRCh38 Chromosome X, 19353085: 19353085
44 DLD NM_000108.4(DLD): c.100A> G (p.Thr34Ala) single nucleotide variant Uncertain significance rs138002793 GRCh37 Chromosome 7, 107533705: 107533705
45 DLD NM_000108.4(DLD): c.100A> G (p.Thr34Ala) single nucleotide variant Uncertain significance rs138002793 GRCh38 Chromosome 7, 107893260: 107893260
46 DLD NM_000108.4(DLD): c.763A> C (p.Met255Leu) single nucleotide variant Uncertain significance rs533405046 GRCh37 Chromosome 7, 107556029: 107556029
47 DLD NM_000108.4(DLD): c.763A> C (p.Met255Leu) single nucleotide variant Uncertain significance rs533405046 GRCh38 Chromosome 7, 107915584: 107915584
48 DLAT NM_001931.4(DLAT): c.572C> T (p.Ala191Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200500508 GRCh38 Chromosome 11, 112028857: 112028857
49 DLAT NM_001931.4(DLAT): c.572C> T (p.Ala191Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200500508 GRCh37 Chromosome 11, 111899581: 111899581
50 PDHX NM_003477.2(PDHX): c.-23C> A single nucleotide variant Benign/Likely benign rs201033364 GRCh38 Chromosome 11, 34916633: 34916633

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:

37
# 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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 HIBCH PC PDHA1 PDHB PDHX
2
Show member pathways
12.25 PC PDHA1 PDHB PDHX
3
Show member pathways
11.73 PDHA1 PDHB PDHX
4
Show member pathways
11.59 PC PDHA1 PDHB
5
Show member pathways
11.58 HIBCH PC PDHA1 PDHB
6 11.51 PDHA1 PDHB
7 11.48 PDHA1 PDHB
8
Show member pathways
11.32 PDHA1 PDHB PDHX
9 11.27 PDHA1 PDHB
10
Show member pathways
11.06 PC PDHA1 PDHB
11
Show member pathways
10.94 PDHA1 PDHB PDHX
12 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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