PDHAD
MCID: PYR022
MIFTS: 62

Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHAD)

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

Aliases & Classifications for Pyruvate Dehydrogenase E1-Alpha Deficiency

MalaCards integrated aliases for Pyruvate Dehydrogenase E1-Alpha Deficiency:

Name: Pyruvate Dehydrogenase E1-Alpha Deficiency 56 58 73 36 29 13 6 39
Pyruvate Dehydrogenase Complex Deficiency 56 52 25 58 36 29 6
Pyruvate Decarboxylase Deficiency 56 12 52 58 73 15 17
Pyruvate Dehydrogenase Deficiency 12 74 52 25 58 73
Pdh Deficiency 56 52 25 73
Pyruvate Dehydrogenase Complex Deficiency Disease 12 43 71
Pdhad 56 58 73
Ataxia with Lactic Acidosis I 56 73
Pdhc 52 58
Pdh 52 58
Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency 52
Ataxia Intermittent with Pyruvate Dehydrogenase or Decarboxylase Deficiency 73
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency 58
Ataxia, Intermittent, with Pyruvate Dehydrogenase Deficiency 56
Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency 25
Ataxia, Intermittent, with Abnormal Pyruvate Metabolism 56
Ataxia Intermittent with Abnormal Pyruvate Metabolism 73
Pyruvate Dehydrogenase E1 Alpha Deficiency 71
Deficiency of Pyruvic Dehydrogenase 12
Ataxia with Lactic Acidosis 1 52
Ataxia with Lactic Acidosis 25
Pdhc Deficiency 25
Pdc Deficiency 52

Characteristics:

Orphanet epidemiological data:

58
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:

56
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 infantile onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Pyruvate Dehydrogenase E1-Alpha Deficiency

NIH Rare Diseases : 52 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 pyruvate dehydrogenase e3-binding protein deficiency and lactic acidosis, and has symptoms including seizures, lethargy and nasal flaring. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (Pyruvate Dehydrogenase E1 Subunit Alpha 1), and among its related pathways/superpathways are Pyruvate metabolism and Glycolysis / Gluconeogenesis. The drugs Strawberry and pyruvate have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are muscular hypotonia and feeding difficulties in infancy

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 : 56 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)

KEGG : 36 Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. This deficiency in newborns may lead to brain malformations. The PDH complex comprises three catalytic subunits, PDH (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3), and two regulatory subunits, E1 kinase and phospho-E1-phosphatase, together with a sixth component, E3-binding protein, which is believed to play a role in the attachment of E3 to the E2 core.

UniProtKB/Swiss-Prot : 73 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 : 74 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:

(showing 130, show less)
# Related Disease Score Top Affiliating Genes
1 pyruvate dehydrogenase e3-binding protein deficiency 30.8 PDHX PDHA1
2 lactic acidosis 30.2 POLG PDHX PDHB PDHA1 PC NFU1
3 aceruloplasminemia 29.9 SLC2A1 POLG PC H2AC18
4 dystonia 29.3 SUOX SLC2A1 SLC19A3 POLG PDHA1 LIPT1
5 leigh syndrome 29.1 SUOX SLC19A3 POLG PDHX PDHB PDHA1
6 mitochondrial metabolism disease 28.1 SUOX SLC19A3 POLG PDHX PDHB PDHA1
7 pyruvate carboxylase deficiency 11.9
8 pyruvate dehydrogenase e1-beta deficiency 11.9
9 pyruvate dehydrogenase e2 deficiency 11.7
10 alpha-ketoglutarate dehydrogenase deficiency 11.4
11 leigh syndrome, french canadian type 11.4
12 pyruvate dehydrogenase phosphatase deficiency 11.4
13 hypotonia 10.3
14 biotin deficiency 10.3 SLC19A3 PC H2AC18
15 ataxia and polyneuropathy, adult-onset 10.3
16 encephalopathy 10.3
17 autoimmune disease of urogenital tract 10.3 PDHX H2AC18 DLAT
18 hyperlysinemia, type i 10.3 SUOX PC
19 mitochondrial dna depletion syndrome 9 10.2 SLC19A3 POLG PDHA1
20 fanconi anemia, complementation group i 10.2 POLG H2AC18
21 hydrocephalus, congenital, 1 10.2
22 west syndrome 10.2
23 inherited metabolic disorder 10.2
24 nuclear gene-encoded leigh syndrome 10.2
25 propionic acidemia 10.2 PC HIBCH ECHS1
26 neuropathy 10.2
27 multiple carboxylase deficiency 10.2 SUOX PC H2AC18
28 biotinidase deficiency 10.2 SUOX PC HIBCH
29 glucose transporter type 1 deficiency syndrome 10.2
30 myoclonus 10.2
31 cerebral creatine deficiency syndrome 2 10.2 SUOX POLG
32 acyl-coa dehydrogenase deficiency 10.2 PC ETFDH
33 hepatocellular carcinoma 10.2
34 primary biliary cirrhosis 10.2
35 ischemia 10.2
36 hypoxia 10.2
37 alpha-methylacetoacetic aciduria 10.1 HIBCH ETFDH ECHS1
38 kearns-sayre syndrome 10.1
39 microcephaly 10.1
40 mitochondrial disorders 10.1
41 ocular motor apraxia 10.1
42 carnitine deficiency, systemic primary 10.1 PC ETFDH
43 leigh syndrome with leukodystrophy 10.1 SLC19A3 PDHA1 LIPT1 ECHS1
44 hyper-beta-alaninemia 10.1
45 alacrima, achalasia, and mental retardation syndrome 10.1
46 alcohol-related neurodevelopmental disorder 10.1
47 periventricular leukomalacia 10.1
48 optic nerve disease 10.1
49 movement disease 10.1
50 peripheral nervous system disease 10.1
51 glycine encephalopathy 10.1 SUOX NFU1 LIPT1
52 holocarboxylase synthetase deficiency 10.1 SUOX PC
53 diabetes mellitus, noninsulin-dependent 10.0
54 systemic lupus erythematosus 10.0
55 muscular dystrophy, duchenne type 10.0
56 oral squamous cell carcinoma 10.0
57 glucose intolerance 10.0
58 pneumocystosis 10.0
59 cryptococcosis 10.0
60 esophageal candidiasis 10.0
61 candidiasis 10.0
62 histoplasmosis 10.0
63 squamous cell carcinoma 10.0
64 dental caries 10.0
65 leptospirosis 10.0
66 hyperglycemia 10.0
67 liver cirrhosis 10.0
68 thyroiditis 10.0
69 carotid artery occlusion 10.0
70 muscular dystrophy 10.0
71 toxoplasmosis 10.0
72 anoxia 10.0
73 progressive familial heart block, type ia 10.0
74 macular degeneration, age-related, 2 10.0
75 mitochondrial complex iv deficiency 10.0
76 hydrocephalus due to congenital stenosis of aqueduct of sylvius 10.0
77 dihydrolipoamide dehydrogenase deficiency 10.0
78 3-methylglutaconic aciduria, type i 10.0
79 cyclic vomiting syndrome 10.0
80 diabetes and deafness, maternally inherited 10.0
81 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.0
82 progressive familial heart block, type ib 10.0
83 early infantile epileptic encephalopathy 10.0
84 umbilical hernia 10.0
85 chronic progressive external ophthalmoplegia 10.0
86 right bundle branch block 10.0
87 status epilepticus 10.0
88 acute pancreatitis 10.0
89 bronchiolitis 10.0
90 carbohydrate metabolic disorder 10.0
91 mitochondrial encephalomyopathy 10.0
92 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.0
93 paroxysmal dystonia 10.0
94 pre-descemet corneal dystrophy 10.0
95 carbonic anhydrase va deficiency, hyperammonemia due to 10.0
96 metabolic acidosis 10.0
97 polyneuropathy 10.0
98 myopathy 10.0
99 mitochondrial short-chain enoyl-coa hydratase 1 deficiency 10.0
100 respiratory failure 10.0
101 mitochondrial myopathy 9.9
102 cerebral atrophy 9.9
103 acute liver failure 9.9
104 down syndrome 9.9
105 alexander disease 9.9
106 corpus callosum, agenesis of 9.9
107 friedreich ataxia 9.9
108 3-methylglutaconic aciduria, type iii 9.9
109 canavan disease 9.9
110 diabetes mellitus, ketosis-prone 9.9
111 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
112 spastic quadriplegia 9.9
113 locked-in syndrome 9.9
114 quadriplegia 9.9
115 guillain-barre syndrome 9.9
116 epilepsy 9.9
117 cerebral palsy 9.9
118 chronic fatigue syndrome 9.9
119 primary cerebellar degeneration 9.9
120 episodic ataxia 9.9
121 mitochondrial dna-associated leigh syndrome and narp 9.9
122 polymicrogyria 9.9
123 pachygyria 9.9
124 hypertonia 9.9
125 seizure disorder 9.9
126 spasticity 9.9
127 spinocerebellar degeneration 9.9
128 paroxysmal dyskinesia 9.9
129 disorder of energy metabolism 9.9
130 reye syndrome 9.9 PC ETFDH

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

Human phenotypes related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

58 31 (showing 53, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
3 lethargy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001254
4 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
5 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
6 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
7 abnormality of eye movement 58 31 frequent (33%) Frequent (79-30%) HP:0000496
8 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
9 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
10 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
11 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
12 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
13 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
14 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
15 choreoathetosis 58 31 frequent (33%) Frequent (79-30%) HP:0001266
16 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
17 tachypnea 58 31 frequent (33%) Frequent (79-30%) HP:0002789
18 osteolytic defects of the middle phalanx of the 4th toe 58 31 frequent (33%) Frequent (79-30%) HP:0100453
19 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
20 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
21 frontal bossing 58 31 occasional (7.5%) Occasional (29-5%) HP:0002007
22 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
23 wide nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000431
24 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
25 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
26 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
27 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
28 multiple lipomas 58 31 occasional (7.5%) Occasional (29-5%) HP:0001012
29 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
30 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
31 trigonocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000243
32 narrow face 58 31 occasional (7.5%) Occasional (29-5%) HP:0000275
33 cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100021
34 abnormal facial shape 58 31 very rare (1%) Very frequent (99-80%) HP:0001999
35 agenesis of corpus callosum 31 HP:0001274
36 intellectual disability 31 HP:0001249
37 ptosis 31 HP:0000508
38 anteverted nares 31 HP:0000463
39 generalized hypotonia 31 HP:0001290
40 growth delay 58 Very frequent (99-80%)
41 increased serum lactate 31 HP:0002151
42 increased csf lactate 31 HP:0002490
43 cerebral atrophy 31 HP:0002059
44 hyperalaninemia 31 HP:0003348
45 small for gestational age 31 HP:0001518
46 episodic ataxia 31 HP:0002131
47 severe lactic acidosis 31 HP:0004900
48 decreased activity of the pyruvate dehydrogenase complex 31 HP:0002928
49 psychomotor retardation 31 HP:0025356
50 basal ganglia cysts 31 HP:0006799
51 flared nostrils 31 HP:0000454
52 chronic lactic acidosis 31 HP:0004925
53 apneic episodes precipitated by illness, fatigue, stress 31 HP:0002872

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Pyruvate Dehydrogenase E1-Alpha Deficiency:


seizures, lethargy, nasal flaring

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

26 (showing 27, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 10.51 PEX12
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.51 PEX12 HIBCH
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.51 DLAT
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.51 H2AC18
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.51 HIBCH
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.51 PC SUOX HIBCH
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.51 PC
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.51 H2AC18
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 10.51 PC PEX12 SUOX
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.51 SUOX
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-187 10.51 PEX12
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.51 SUOX
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 10.51 SUOX
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.51 PEX12 SUOX DLAT H2AC18 HIBCH
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.51 DLAT
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.51 H2AC18
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.51 PEX12
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 10.51 PC
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.51 HIBCH
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 10.51 SUOX
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.51 SUOX HIBCH
22 Decreased viability GR00221-A-2 10.05 TAOK3
23 Decreased viability GR00221-A-3 10.05 TAOK3
24 Decreased viability GR00240-S-1 10.05 HIBCH
25 Decreased viability GR00381-A-1 10.05 DLAT PDHB
26 Decreased viability GR00402-S-2 10.05 DLAT ECHS1 ETFDH H2AC18 HIBCH LIPT1
27 no effect GR00402-S-1 9.62 DLAT ECHS1 ETFDH H2AC18 HIBCH LIPT1

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Alpha Deficiency

Drugs for Pyruvate Dehydrogenase E1-Alpha Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 4, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Strawberry Approved Phase 3
2 pyruvate Phase 3
3 4-phenylbutyric acid Phase 1, Phase 2
4 Pharmaceutical Solutions Phase 1

Interventional clinical trials:

(showing 6, show less)
# Name Status NCT ID Phase Drugs
1 Phase 3 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Recruiting NCT02616484 Phase 3 Dichloroacetate (DCA)
2 Pilot Clinical Trial to Investigate the Safety and Efficacy of Phenylbutyrate Therapy for Patients With Pyruvate Dehydrogenase Complex Deficiency. Recruiting NCT03734263 Phase 1, Phase 2 sodium phenylbutyrate
3 A Pilot Study of Rapid Haplotyping Procedure for Personalized Dosing of Dichloroacetate (DCA) in Healthy Volunteers Part 1: Rapid Haplotyping Procedure for Determining the Response of Patients to DCA. Part 2: Personalized Dosing of Dichloroacetate for the Treatment of Rare and Common Diseases Completed NCT02690285 Phase 1 Dichloroacetate (DCA)
4 Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies (North American Mitochondrial Disease Consortium, Rare Diseases Clinical Research Network, Project 7413) Recruiting NCT03056794
5 VIVE Mind: Terapias Corpo-mente Nos Cuidados de saúde primários - Estudo Aleatorizado e Controlado Not yet recruiting NCT04058119
6 VIVE Active: avaliação de um Programa de Treino Funcional Nos Cuidados de saúde primários - Estudo Quasi-experimental Not yet recruiting NCT04058093

Search 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:

40
Brain, Testes, Eye, Cortex, Liver, Heart, Skin

Publications for Pyruvate Dehydrogenase E1-Alpha Deficiency

Articles related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

(showing 181, show less)
# Title Authors PMID Year
1
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene. 61 56 6
10486093 1999
2
Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings. 61 56 6
9686362 1998
3
An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein. 61 56 6
7573035 1995
4
A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency. 61 56 6
1508605 1992
5
Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region. 56 6
12379317 2002
6
Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency. 56 6
9266390 1997
7
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. 56 6
8032855 1994
8
Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit. 56 6
8199595 1994
9
Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift. 56 6
2537010 1989
10
A deficiency of both subunits of pyruvate dehydrogenase which is not expressed in fibroblasts. 56 6
3137520 1988
11
Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again. 61 6
7887408 1995
12
Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. 61 6
1909401 1991
13
Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex. 61 56
3139934 1988
14
Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia. 6
29093066 2017
15
Dihydrolipoamide Dehydrogenase Deficiency 6
25032271 2014
16
Stimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase. 6
21558426 2011
17
Cryptic proteolytic activity of dihydrolipoamide dehydrogenase. 6
17404228 2007
18
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. 6
16770810 2006
19
Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype. 56
16412675 2006
20
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. 6
16049940 2005
21
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. 6
15712224 2005
22
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. 6
15138885 2004
23
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. 6
12925875 2003
24
Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency. 56
12621116 2003
25
Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy. 6
14765544 2003
26
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. 6
11687750 2001
27
Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain. 6
10448086 1999
28
Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. 6
9934985 1999
29
Thiamine-responsive lactic acidaemia: role of pyruvate dehydrogenase complex. 56
9727848 1998
30
Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity. 6
9671272 1998
31
Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene. 56
9259285 1997
32
Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence. 6
9298831 1997
33
Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. 6
8968745 1996
34
Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. 6
8652022 1996
35
Association of cerebral dysgenesis and lactic acidemia with X-linked PDH E1 alpha subunit mutations in females. 6
8771169 1995
36
Pyruvate dehydrogenase deficiency. 56
7853374 1994
37
Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. 56
7880337 1994
38
Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia. 56
7808831 1994
39
Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene. 6
7692352 1993
40
Molecular genetic characterization of an X-linked form of Leigh's syndrome. 56
8498846 1993
41
Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. 6
8506365 1993
42
A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1). 6
8504309 1993
43
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex. 6
8504306 1993
44
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. 6
1640293 1992
45
Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene. 56
1301207 1992
46
X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation. 56
1293379 1992
47
Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein. 6
1338114 1992
48
Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene. 6
1907799 1991
49
Demonstration of an unstable variant of pyruvate dehydrogenase protein (E1) in cultured fibroblasts from a patient with congenital lactic acidemia. 6
1909778 1991
50
Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit. 6
1770778 1991
51
A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency. 6
1779625 1991
52
Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene. 56
2378353 1990
53
Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex. 56
2592988 1989
54
X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex. 56
2737678 1989
55
Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency. 56
3140238 1988
56
Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex. 6
2828359 1988
57
"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis. 56
3123240 1988
58
Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase. 56
3422424 1988
59
Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex. 56
3116190 1987
60
The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA. 6
3034892 1987
61
Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction. 6
3769994 1986
62
Partial pyruvate decarboxylase deficiency with profound lactic acidosis and hyperammonemia: responses to dichloroacetate and benzoate. 56
4050860 1985
63
Thiamine-responsive inborn errors of metabolism. 56
3930844 1985
64
Episodic weakness in pyruvate decarboxylase deficiency. 56
6502351 1984
65
Familial intermittent ataxia with possible X-linked recessive inheritance. Two patients with abnormal pyruvate metabolism and a response to acetazolamide. 56
6539810 1984
66
Lactic acidaemia. 56
6434848 1984
67
X-linked Leigh's syndrome. 56
6891369 1982
68
Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts. 56
6262377 1981
69
Pyruvate dehydrogenase deficiency restricted to brain. 56
6783978 1981
70
The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis. 56
6775276 1980
71
Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency. 56
413346 1977
72
Ketonic diet in the management of pyruvate dehydrogenase deficiency. 56
824610 1976
73
Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes. 56
184426 1976
74
Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase. 56
813176 1976
75
Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis. 56
803713 1975
76
Letter: Leigh's disease and failure of automatic respiration. 56
4137785 1974
77
Letter: Pyruvate decarboxylase deficiency in liver. 56
4810126 1974
78
Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver. 56
4343503 1972
79
Clinical studies of a patient with pyruvate decarboxylase deficiency. 56
5110887 1971
80
Subacute necrotizing encephalomyelopathy. A review and a study of two families. 56
5552162 1971
81
A defect in pyruvate decarboxylase in a child with an intermittent movement disorder. 56
4313434 1970
82
Intermittent cerebellar ataxia associated with hyperpyruvic acidemia, hyperalaninemia, and hyperalaninuria. 56
5786203 1969
83
Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency. 52
28918066 2017
84
Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency. 61
31665995 2020
85
Epileptic phenotypes in children with early-onset mitochondrial diseases. 61
31102535 2019
86
Hypothermic reaction after infection in an infant with pyruvate dehydrogenase complex deficiency. 61
31064704 2019
87
Prospective study of growth and bone mass in Swedish children treated with the modified Atkins diet. 61
31085021 2019
88
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. 61
31392110 2019
89
Pyruvate Dehydrogenase Complex Deficiency: An Unusual Cause of Recurrent Lactic Acidosis in a Paediatric Critical Care Unit. 61
31161145 2019
90
Efficacy of ketogenic diet for pyruvate dehydrogenase complex deficiency. 61
30407699 2018
91
Development of a novel observer reported outcome tool as the primary efficacy outcome measure for a rare disease randomized controlled trial. 61
29129554 2018
92
Pyruvate dehydrogenase complex deficiency is linked to regulatory loop disorder in the αV138M variant of human pyruvate dehydrogenase. 61
29970614 2018
93
[Analysis of a female neonate with pyruvate dehydrogenase complex deficiency]. 61
30098254 2018
94
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. 61
29681092 2018
95
Neuron-specific knockdown of Drosophila PDHB induces reduction of lifespan, deficient locomotive ability, abnormal morphology of motor neuron terminals and photoreceptor axon targeting. 61
29501567 2018
96
Personalized Dosing of Dichloroacetate Using GSTZ1 Clinical Genotyping Assay. 61
29641284 2018
97
Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease. 61
29204204 2017
98
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes. 61
28101805 2017
99
Schizophrenia-like symptoms in a patient with Leigh syndrome. 61
28262162 2017
100
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival. 61
28584645 2017
101
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family. 61
27656664 2016
102
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells. 61
27343776 2016
103
The changing face of dietary therapy for epilepsy. 61
27586246 2016
104
Prenatal presentation of pyruvate dehydrogenase complex deficiency. 61
27026023 2016
105
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. 61
27144126 2016
106
Beneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency. 61
27331005 2016
107
Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview. 61
26354166 2015
108
[Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency]. 61
26287337 2015
109
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 61
25818041 2015
110
[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case]. 61
25582476 2014
111
Energy substrate metabolism in pyruvate dehydrogenase complex deficiency. 61
24914713 2014
112
Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1). 61
23572181 2014
113
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency. 61
27896109 2014
114
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement. 61
23623855 2013
115
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis. 61
23467562 2013
116
Pyruvate dehydrogenase-e1α deficiency presenting as recurrent demyelination: an unusual presentation and a novel mutation. 61
23430811 2013
117
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children. 61
23112753 2012
118
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. 61
22896851 2012
119
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility. 61
22142326 2012
120
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. 61
22079328 2012
121
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. 61
21914562 2011
122
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency. 61
21723463 2011
123
Liver-specific pyruvate dehydrogenase complex deficiency upregulates lipogenesis in adipose tissue and improves peripheral insulin sensitivity. 61
20835892 2010
124
Novel mutation (R263X) of the E1α subunit in pyruvate dehydrogenase complex deficiency. 61
20958858 2010
125
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency. 61
20462777 2010
126
A technical surgery for refractory gastroparesis in a patient with a mitochondrial disorder. 61
20425116 2010
127
Ketogenic diet for treatment of epilepsy. 61
20547519 2010
128
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency. 61
20002461 2010
129
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. 61
20002125 2010
130
Tissue-specific pyruvate dehydrogenase complex deficiency causes cardiac hypertrophy and sudden death of weaned male mice. 61
18586888 2008
131
Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit. 61
17923481 2008
132
Effect of pyruvate dehydrogenase complex deficiency on L-lysine production with Corynebacterium glutamicum. 61
17333167 2007
133
Sonographic femur length to trunk cross area ratio: prediction of fetal outcome in 30 cases in which micromelia was suspected. 61
17578350 2007
134
Brain MR imaging and proton MR spectroscopy in female mice with pyruvate dehydrogenase complex deficiency. 61
17342409 2007
135
A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene. 61
17043409 2006
136
Magnetic resonance spectroscopic investigation of mitochondrial fuel metabolism and energetics in cultured human fibroblasts: effects of pyruvate dehydrogenase complex deficiency and dichloroacetate. 61
16765624 2006
137
Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency. 61
16725381 2006
138
Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption. 61
15944905 2005
139
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene. 61
15558317 2005
140
[The ketogenic diet in German-speaking countries: update 2003]. 61
15455294 2004
141
Introduction of a ketogenic diet in young infants. 61
12555938 2002
142
Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency. 61
12163191 2002
143
[Pyruvate dehydrogenase complex deficiency]. 61
12013991 2002
144
Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency. 61
11870584 2001
145
Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency. 61
11241048 2001
146
[Pyruvate dehydrogenase complex deficiency]. 61
11596336 2001
147
[Pyruvate dehydrogenase complex deficiency]. 61
11528893 2001
148
Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency. 61
11102541 2000
149
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency. 61
10679936 2000
150
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex. 61
10590436 1999
151
Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency. 61
10567050 1999
152
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency. 61
10402601 1999
153
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. 61
10360771 1999
154
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. 61
9619647 1998
155
Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency. 61
9467010 1998
156
Pyruvate dehydrogenase complex deficiency and absence of subunit X. 61
9501264 1998
157
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency. 61
9187674 1997
158
Pyruvate dehydrogenase complex deficiency with multiple minor anomalies. 61
9141261 1997
159
Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency. 61
9075024 1997
160
[Magnetic resonance imaging in thiamine responsive pyruvate dehydrogenase complex deficiency]. 61
8990483 1996
161
Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy. 61
8982956 1996
162
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency. 61
8664900 1996
163
Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy. 61
8656986 1996
164
Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit. 61
7757088 1995
165
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency. 61
8535453 1995
166
Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity. 61
8024267 1994
167
Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis. 61
8337946 1993
168
The expanding clinical spectrum of mitochondrial diseases. 61
8338207 1993
169
Pyruvate dehydrogenase E1 alpha deficiency. 61
1528021 1992
170
Polymorphisms in the human X-linked pyruvate dehydrogenase E1 alpha gene. 61
1674716 1991
171
Pyruvate dehydrogenase complex deficiency: biochemical and immunoblot analysis of cultured skin fibroblasts. 61
2513771 1989
172
[Evaluation of a rapid diagnosis of congenital lactic acidemia by transported peripheral blood samples]. 61
2544213 1989
173
Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity. 61
2502681 1989
174
Biochemical nature of pyruvate dehydrogenase complex in the patient with primary lactic acidaemia. 61
2516171 1989
175
The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency. 61
2517465 1989
176
[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex]. 61
3125426 1987
177
[Clinical and biochemical approach to mitochondrial cytopathy--pyruvate dehydrogenase complex deficiency]. 61
3103656 1987
178
Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease). 61
3103091 1987
179
[Diagnosis of pyruvate dehydrogenase complex deficiency in biopsied muscles and cultured skin fibroblasts]. 61
3098264 1986
180
Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency. 61
6438601 1984
181
Demyelination and disturbed metabolism of pyruvate: a case report. 61
6411474 1983

Variations for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

6 (showing 242, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDHA1 NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)SNV Pathogenic 214941 rs863224150 X:19371287-19371287 X:19353169-19353169
2 PDHA1 NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)SNV Pathogenic 214935 rs863224146 X:19377044-19377044 X:19358926-19358926
3 PDHA1 NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)SNV Pathogenic 214936 rs863224147 X:19377730-19377730 X:19359612-19359612
4 PDHA1 NM_000284.4(PDHA1):c.1163_1166CAGT[1] (p.Ser390fs)short repeat Pathogenic 10871 rs606231184 X:19377758-19377761 X:19359640-19359643
5 PDHA1 NM_000284.4(PDHA1):c.927_933AGTAAGA[1] (p.Ser312fs)short repeat Pathogenic 10872 rs606231185 X:19377059-19377065 X:19358941-19358947
6 PDHA1 NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)SNV Pathogenic 10873 rs137853250 X:19377731-19377731 X:19359613-19359613
7 PDHA1 NM_000284.4(PDHA1):c.938_940del (p.Lys313del)deletion Pathogenic 10874 rs137853251 X:19377071-19377073 X:19358953-19358955
8 PDHA1 NM_000284.4(PDHA1):c.1159_1160del (p.Lys387fs)deletion Pathogenic 10875 rs606231186 X:19377757-19377758 X:19359639-19359640
9 PDHA1 NM_000284.4(PDHA1):c.1073_1092del (p.Glu358fs)deletion Pathogenic 10876 rs606231187 X:19377668-19377687 X:19359550-19359569
10 PDHA1 NM_000284.4(PDHA1):c.900-3_917dupduplication Pathogenic 10877 rs606231188 X:19377029-19377030 X:19358911-19358912
11 PDHA1 NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)SNV Pathogenic 10878 rs137853259 X:19373831-19373831 X:19355713-19355713
12 PDHA1 NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)SNV Pathogenic 10879 rs137853252 X:19377038-19377038 X:19358920-19358920
13 PDHA1 NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)duplication Pathogenic 10880 rs606231189 X:19377737-19377738 X:19359619-19359620
14 PDHA1 NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala)SNV Pathogenic 10881 rs137853253 X:19373817-19373817 X:19355699-19355699
15 PDHA1 NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)SNV Pathogenic 10882 rs137853254 X:19373478-19373478 X:19355360-19355360
16 PDHA1 NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)SNV Pathogenic 10883 rs137853255 X:19373590-19373590 X:19355472-19355472
17 PDHA1 NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn)SNV Pathogenic 10884 rs137853256 X:19377077-19377077 X:19358959-19358959
18 PDHA1 NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)SNV Pathogenic 202188 rs794729213 X:19371203-19371203 X:19353085-19353085
19 PDHA1 NM_000284.4(PDHA1):c.861_862insT (p.Arg288fs)insertion Pathogenic 10886 rs606231190 X:19375799-19375800 X:19357681-19357682
20 PDHA1 NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro)SNV Pathogenic 10887 rs137853257 X:19362184-19362184 X:19344066-19344066
21 PDHA1 PDHA1, 13-BP INS, EX10insertion Pathogenic 10888
22 PDHA1 NM_000284.4(PDHA1):c.1074_1109dup (p.Pro359_Ser370dup)duplication Pathogenic 10889 rs606231191 X:19377671-19377672 X:19359553-19359554
23 PDHA1 NM_000284.4(PDHA1):c.863G>A (p.Arg288His)SNV Pathogenic 10890 rs137853258 X:19375801-19375801 X:19357683-19357683
24 PDHA1 NM_000284.4(PDHA1):c.*79_*90dupduplication Pathogenic 10891 rs1555935690 X:19377849-19377850 X:19359731-19359732
25 PDHA1 NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)SNV Pathogenic 10893 rs121917898 X:19373511-19373511 X:19355393-19355393
26 PDHA1 NM_000284.4(PDHA1):c.292-23A>GSNV Pathogenic 374330 rs1057518702 X:19369376-19369376 X:19351258-19351258
27 PDHA1 NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)SNV Pathogenic 560929 rs1569190962 X:19371263-19371263 X:19353145-19353145
28 PDHA1 NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)SNV Pathogenic 561078 rs1569191372 X:19372621-19372621 X:19354503-19354503
29 PDHA1 NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs)deletion Pathogenic 560930 rs1569194036 X:19377624-19377637 X:19359506-19359519
30 PDHA1 NM_000284.4(PDHA1):c.58-1G>ASNV Pathogenic 567912 rs1569189834 X:19367429-19367429 X:19349311-19349311
31 PDHA1 NM_000284.4(PDHA1):c.930_932AAG[1] (p.Arg311del)short repeat Pathogenic 488571 rs1555935223 X:19377064-19377066 X:19358946-19358948
32 PDHA1 NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)SNV Pathogenic 488569 rs1555933963 X:19371272-19371272 X:19353154-19353154
33 PDHA1 NM_000284.4(PDHA1):c.225G>T (p.Glu75Asp)SNV Pathogenic 627558 rs1569190079 X:19368162-19368162 X:19350044-19350044
34 PDHA1 NM_000284.4(PDHA1):c.934_992dup (p.Ser331delinsArgValArgValThrLeuLeuCysPheSerArgThrGlyTrpTer)duplication Pathogenic 640193 X:19377067-19377068 X:19358949-19358950
35 PDHA1 NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)duplication Pathogenic 803732 X:19373864-19373865 X:19355746-19355747
36 PDHA1 NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys)SNV Pathogenic 807461 X:19373505-19373505 X:19355387-19355387
37 PDHA1 NM_000284.4(PDHA1):c.738C>T (p.Gly246=)SNV Pathogenic/Likely pathogenic 432160 rs1555934379 X:19373601-19373601 X:19355483-19355483
38 PDHA1 NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)SNV Pathogenic/Likely pathogenic 214938 rs863224148 X:19368151-19368151 X:19350033-19350033
39 PDHA1 NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)SNV Likely pathogenic 488568 rs1555933954 X:19371236-19371236 X:19353118-19353118
40 PDHA1 NM_000284.4(PDHA1):c.461A>G (p.His154Arg)SNV Likely pathogenic 430806 rs1131692230 X:19371242-19371242 X:19353124-19353124
41 PDHX NM_001166158.1(PDHX):c.-197deldeletion Likely pathogenic 590822 rs1158194122 11:34938006-34938006 11:34916459-34916459
42 PDHA1 NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs)duplication Likely pathogenic 590820 rs1569190422 X:19369406-19369407 X:19351288-19351289
43 PDHA1 NM_000284.4(PDHA1):c.789_790AG[1] (p.Glu264fs)short repeat Likely pathogenic 590821 rs1569191879 X:19373832-19373833 X:19355714-19355715
44 PDHA1 NM_000284.4(PDHA1):c.291+1_418+1dupduplication Likely pathogenic 599237 X:19368227-19368228 X:19350109-19350110
45 PDHA1 NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)SNV Likely pathogenic 637039 X:19373612-19373612 X:19355494-19355494
46 PDHA1 NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)SNV Likely pathogenic 488570 rs1555934165 X:19372634-19372634 X:19354516-19354516
47 PDHA1 NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)duplication Likely pathogenic 495793 rs1555935486 X:19377647-19377648 X:19359529-19359530
48 PDHA1 NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)SNV Conflicting interpretations of pathogenicity 650357 X:19373555-19373555 X:19355437-19355437
49 PDHX NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser)SNV Conflicting interpretations of pathogenicity 304461 rs118136428 11:34938249-34938249 11:34916702-34916702
50 PDHX NM_003477.3(PDHX):c.474G>A (p.Glu158=)SNV Conflicting interpretations of pathogenicity 304464 rs148723565 11:34979062-34979062 11:34957515-34957515
51 DLAT NM_001931.4(DLAT):c.946C>T (p.Pro316Ser)SNV Conflicting interpretations of pathogenicity 302456 rs149088081 11:111908155-111908155 11:112037431-112037431
52 DLAT NM_001931.4(DLAT):c.506+12G>ASNV Conflicting interpretations of pathogenicity 302453 rs372355218 11:111899375-111899375 11:112028651-112028651
53 DLAT NM_001931.4(DLAT):c.828G>T (p.Leu276=)SNV Conflicting interpretations of pathogenicity 302455 rs199835215 11:111908037-111908037 11:112037313-112037313
54 PDHX NM_003477.3(PDHX):c.1333T>G (p.Phe445Val)SNV Conflicting interpretations of pathogenicity 214959 rs147948716 11:35016546-35016546 11:34994999-34994999
55 PDHX NM_003477.3(PDHX):c.749C>T (p.Thr250Ile)SNV Conflicting interpretations of pathogenicity 214963 rs146876119 11:34988294-34988294 11:34966747-34966747
56 DLD NM_000108.5(DLD):c.763A>C (p.Met255Leu)SNV Conflicting interpretations of pathogenicity 203680 rs533405046 7:107556029-107556029 7:107915584-107915584
57 DLAT NM_001931.4(DLAT):c.572C>T (p.Ala191Val)SNV Conflicting interpretations of pathogenicity 214292 rs200500508 11:111899581-111899581 11:112028857-112028857
58 DLAT NM_001931.4(DLAT):c.55G>C (p.Glu19Gln)SNV Conflicting interpretations of pathogenicity 137086 rs61757217 11:111896251-111896251 11:112025527-112025527
59 DLAT NM_001931.4(DLAT):c.506+11C>TSNV Conflicting interpretations of pathogenicity 137088 rs77846695 11:111899374-111899374 11:112028650-112028650
60 DLD NM_000108.5(DLD):c.543A>T (p.Ile181=)SNV Conflicting interpretations of pathogenicity 137095 rs61749952 7:107545910-107545910 7:107905465-107905465
61 DLD NM_000108.5(DLD):c.34G>A (p.Ala12Thr)SNV Conflicting interpretations of pathogenicity 137103 rs75077312 7:107531729-107531729 7:107891284-107891284
62 PDHB NM_000925.4(PDHB):c.132T>C (p.Asp44=)SNV Conflicting interpretations of pathogenicity 138648 rs11542399 3:58417676-58417676 3:58431949-58431949
63 PDHB NM_001173468.1(PDHB):c.-26G>ASNV Conflicting interpretations of pathogenicity 138653 rs201243189 3:58419562-58419562 3:58433835-58433835
64 PDHX NM_003477.3(PDHX):c.976G>C (p.Val326Leu)SNV Conflicting interpretations of pathogenicity 138664 rs35560997 11:34999682-34999682 11:34978135-34978135
65 PDHX NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys)SNV Conflicting interpretations of pathogenicity 138666 rs34398018 11:35016544-35016544 11:34994997-34994997
66 DLD NM_000108.5(DLD):c.249T>C (p.Val83=)SNV Conflicting interpretations of pathogenicity 137092 rs2228664 7:107542820-107542820 7:107902375-107902375
67 DLAT NM_001931.4(DLAT):c.318C>A (p.Gly106=)SNV Conflicting interpretations of pathogenicity 302451 rs201070254 11:111896960-111896960 11:112026236-112026236
68 DLAT NM_001931.4(DLAT):c.1142A>G (p.Asp381Gly)SNV Conflicting interpretations of pathogenicity 302459 rs144235197 11:111914202-111914202 11:112043478-112043478
69 DLAT NM_001931.4(DLAT):c.1692G>A (p.Thr564=)SNV Conflicting interpretations of pathogenicity 302462 rs185907405 11:111931776-111931776 11:112061052-112061052
70 PDHX NM_003477.3(PDHX):c.532G>A (p.Gly178Arg)SNV Conflicting interpretations of pathogenicity 304466 rs765182974 11:34979120-34979120 11:34957573-34957573
71 PDHX NM_003477.3(PDHX):c.542+10T>CSNV Conflicting interpretations of pathogenicity 304467 rs368960575 11:34979140-34979140 11:34957593-34957593
72 PDHX NM_003477.3(PDHX):c.161-6T>CSNV Conflicting interpretations of pathogenicity 304462 rs200438675 11:34952945-34952945 11:34931398-34931398
73 PDHX NM_003477.3(PDHX):c.*114A>GSNV Uncertain significance 304475 rs76663700 11:35016833-35016833 11:34995286-34995286
74 PDHX NM_001166158.1(PDHX):c.-271G>TSNV Uncertain significance 304452 rs780153979 11:34937932-34937932 11:34916385-34916385
75 DLAT NM_001931.4(DLAT):c.*1375T>CSNV Uncertain significance 302478 rs144371275 11:111934634-111934634 11:112063910-112063910
76 DLAT NM_001082619.1(PIH1D2):c.*38C>TSNV Uncertain significance 302479 rs184244244 11:111934854-111934854 11:112064130-112064130
77 DLAT NM_001931.4(DLAT):c.-647C>ASNV Uncertain significance 302434 rs190887558 11:111895550-111895550 11:112024826-112024826
78 DLAT NM_001931.4(DLAT):c.-572G>ASNV Uncertain significance 302438 rs183456915 11:111895625-111895625 11:112024901-112024901
79 DLAT NM_001931.4(DLAT):c.-500C>TSNV Uncertain significance 302439 rs886047689 11:111895697-111895697 11:112024973-112024973
80 DLAT NM_001931.4(DLAT):c.-471C>TSNV Uncertain significance 302440 rs886047690 11:111895726-111895726 11:112025002-112025002
81 DLAT NM_001931.4(DLAT):c.-137G>ASNV Uncertain significance 302448 rs886047692 11:111896060-111896060 11:112025336-112025336
82 DLAT NM_001931.4(DLAT):c.-90G>CSNV Uncertain significance 302449 rs587665696 11:111896107-111896107 11:112025383-112025383
83 DLAT NM_001931.4(DLAT):c.991C>G (p.Pro331Ala)SNV Uncertain significance 302458 rs78320677 11:111909983-111909983 11:112039259-112039259
84 DLAT NM_001931.4(DLAT):c.*246A>GSNV Uncertain significance 302468 rs886047696 11:111933505-111933505 11:112062781-112062781
85 PDHX NM_003477.3(PDHX):c.577G>C (p.Glu193Gln)SNV Uncertain significance 304468 rs149337104 11:34982001-34982001 11:34960454-34960454
86 PDHX NM_003477.3(PDHX):c.585C>G (p.His195Gln)SNV Uncertain significance 304469 rs886048247 11:34982009-34982009 11:34960462-34960462
87 PDHX NM_003477.3(PDHX):c.841A>G (p.Ser281Gly)SNV Uncertain significance 304472 rs886048248 11:34991710-34991710 11:34970163-34970163
88 PDHX NM_015957.4(APIP):c.-1C>TSNV Uncertain significance 304446 rs774565620 11:34937832-34937832 11:34916285-34916285
89 PDHX NM_001166158.1(PDHX):c.-208C>TSNV Uncertain significance 304453 rs555380381 11:34937995-34937995 11:34916448-34916448
90 PDHX NM_003477.3(PDHX):c.511G>A (p.Val171Ile)SNV Uncertain significance 304465 rs142256229 11:34979099-34979099 11:34957552-34957552
91 DLAT NM_001931.4(DLAT):c.*168G>ASNV Uncertain significance 302465 rs77304693 11:111933427-111933427 11:112062703-112062703
92 DLAT NM_001931.4(DLAT):c.-222C>TSNV Uncertain significance 302443 rs587750751 11:111895975-111895975 11:112025251-112025251
93 DLAT NM_001931.4(DLAT):c.*920A>GSNV Uncertain significance 302472 rs116895022 11:111934179-111934179 11:112063455-112063455
94 DLAT NM_001931.4(DLAT):c.*1318A>GSNV Uncertain significance 302477 rs757760280 11:111934577-111934577 11:112063853-112063853
95 DLAT NM_001931.4(DLAT):c.1290+5G>ASNV Uncertain significance 302460 rs886047694 11:111915959-111915959 11:112045235-112045235
96 DLAT NM_001931.4(DLAT):c.1399-13C>TSNV Uncertain significance 302461 rs374698306 11:111921945-111921945 11:112051221-112051221
97 DLD NM_000108.5(DLD):c.*470G>ASNV Uncertain significance 358578 rs111619940 7:107560174-107560174 7:107919729-107919729
98 DLD NM_000108.5(DLD):c.-8G>TSNV Uncertain significance 358563 rs372155330 7:107531688-107531688 7:107891243-107891243
99 DLD NM_000108.5(DLD):c.1465-7C>GSNV Uncertain significance 358571 rs886061908 7:107559632-107559632 7:107919187-107919187
100 DLD NM_000108.5(DLD):c.*167T>CSNV Uncertain significance 358574 rs886061909 7:107559871-107559871 7:107919426-107919426
101 DLD NM_000108.5(DLD):c.*355A>GSNV Uncertain significance 358577 rs886061910 7:107560059-107560059 7:107919614-107919614
102 DLD NM_000108.5(DLD):c.*225C>TSNV Uncertain significance 358576 rs553824101 7:107559929-107559929 7:107919484-107919484
103 DLD NM_000108.5(DLD):c.*498T>GSNV Uncertain significance 358580 rs886061911 7:107560202-107560202 7:107919757-107919757
104 DLD NM_000108.5(DLD):c.*648G>ASNV Uncertain significance 358581 rs57801571 7:107560352-107560352 7:107919907-107919907
105 DLD NM_000108.5(DLD):c.*1307C>TSNV Uncertain significance 358587 rs568807016 7:107561011-107561011 7:107920566-107920566
106 DLD NM_000108.5(DLD):c.*1724C>GSNV Uncertain significance 358590 rs886061913 7:107561428-107561428 7:107920983-107920983
107 DLD NM_000108.5(DLD):c.*1791_*1794deldeletion Uncertain significance 358592 rs760145994 7:107561495-107561498 7:107921050-107921053
108 DLD NM_000108.5(DLD):c.*1857A>CSNV Uncertain significance 358593 rs774099916 7:107561561-107561561 7:107921116-107921116
109 DLD NM_000108.5(DLD):c.74A>C (p.Gln25Pro)SNV Uncertain significance 358564 rs61749951 7:107533679-107533679 7:107893234-107893234
110 DLD NM_000108.5(DLD):c.860G>A (p.Gly287Glu)SNV Uncertain significance 358569 rs202125745 7:107556126-107556126 7:107915681-107915681
111 PDHB NM_000925.4(PDHB):c.*360A>GSNV Uncertain significance 346396 rs886058776 3:58413401-58413401 3:58427674-58427674
112 PDHB NM_000925.4(PDHB):c.793-19_793-14deldeletion Uncertain significance 346404 rs759146810 3:58414355-58414360 3:58428628-58428633
113 PDHB NM_000925.4(PDHB):c.641C>T (p.Pro214Leu)SNV Uncertain significance 346407 rs752056463 3:58415914-58415914 3:58430187-58430187
114 PDHB NM_000925.4(PDHB):c.448G>T (p.Ala150Ser)SNV Uncertain significance 346409 rs139242990 3:58416525-58416525 3:58430798-58430798
115 PDHB NM_000925.4(PDHB):c.93G>T (p.Leu31=)SNV Uncertain significance 346411 rs886058780 3:58419361-58419361 3:58433634-58433634
116 PDHB NM_000925.4(PDHB):c.*199T>GSNV Uncertain significance 346401 rs886058777 3:58413562-58413562 3:58427835-58427835
117 DLD NM_000108.5(DLD):c.267+15deldeletion Uncertain significance 358567 rs886061906 7:107542850-107542850 7:107902405-107902405
118 DLD NM_000108.5(DLD):c.1228A>C (p.Lys410Gln)SNV Uncertain significance 358570 rs886061907 7:107557899-107557899 7:107917454-107917454
119 DLD NM_000108.5(DLD):c.*1088A>GSNV Uncertain significance 358585 rs886061912 7:107560792-107560792 7:107920347-107920347
120 DLD NM_000108.5(DLD):c.*1092C>TSNV Uncertain significance 358586 rs546777301 7:107560796-107560796 7:107920351-107920351
121 DLD NM_000108.5(DLD):c.*1736T>CSNV Uncertain significance 358591 rs190655078 7:107561440-107561440 7:107920995-107920995
122 DLD NM_000108.5(DLD):c.*1877A>GSNV Uncertain significance 358594 rs182010485 7:107561581-107561581 7:107921136-107921136
123 DLD NM_000108.5(DLD):c.116C>T (p.Pro39Leu)SNV Uncertain significance 358565 rs766396602 7:107533721-107533721 7:107893276-107893276
124 DLD NM_000108.5(DLD):c.117G>A (p.Pro39=)SNV Uncertain significance 358566 rs751621846 7:107533722-107533722 7:107893277-107893277
125 DLD NM_000108.5(DLD):c.677T>C (p.Val226Ala)SNV Uncertain significance 358568 rs750449027 7:107546806-107546806 7:107906361-107906361
126 DLD NM_000108.5(DLD):c.1503G>A (p.Ala501=)SNV Uncertain significance 358572 rs766286119 7:107559677-107559677 7:107919232-107919232
127 PDHB NM_000925.4(PDHB):c.*366_*367insAAinsertion Uncertain significance 346395 rs886058775 3:58413394-58413395 3:58427667-58427668
128 PDHB NM_000925.4(PDHB):c.710T>A (p.Ile237Lys)SNV Uncertain significance 346405 rs779577082 3:58415517-58415517 3:58429790-58429790
129 PDHB NM_000925.4(PDHB):c.701-3C>TSNV Uncertain significance 346406 rs377063331 3:58415529-58415529 3:58429802-58429802
130 PDHB NM_000925.4(PDHB):c.640C>T (p.Pro214Ser)SNV Uncertain significance 346408 rs886058778 3:58415915-58415915 3:58430188-58430188
131 PDHB NM_000925.4(PDHB):c.249T>C (p.Ile83=)SNV Uncertain significance 346410 rs886058779 3:58417476-58417476 3:58431749-58431749
132 PDHB NM_000925.4(PDHB):c.11T>C (p.Val4Ala)SNV Uncertain significance 346412 rs751921912 3:58419526-58419526 3:58433799-58433799
133 PDHX NM_003477.3(PDHX):c.317A>G (p.Asp106Gly)SNV Uncertain significance 282337 rs146456454 11:34969128-34969128 11:34947581-34947581
134 DLD NM_000108.5(DLD):c.100A>G (p.Thr34Ala)SNV Uncertain significance 203672 rs138002793 7:107533705-107533705 7:107893260-107893260
135 PDHX NM_003477.3(PDHX):c.1129A>G (p.Ile377Val)SNV Uncertain significance 214958 rs75430333 11:35006222-35006222 11:34984675-34984675
136 DLAT NM_001931.4(DLAT):c.-590G>ASNV Uncertain significance 302437 rs587721916 11:111895607-111895607 11:112024883-112024883
137 DLAT NM_001931.4(DLAT):c.-338T>CSNV Uncertain significance 302442 rs587698124 11:111895859-111895859 11:112025135-112025135
138 DLAT NM_001931.4(DLAT):c.-203C>TSNV Uncertain significance 302445 rs781987834 11:111895994-111895994 11:112025270-112025270
139 PDHX NM_003477.3(PDHX):c.*259G>TSNV Uncertain significance 304479 rs771515806 11:35016978-35016978 11:34995431-34995431
140 PDHX NM_003477.3(PDHX):c.*331G>CSNV Uncertain significance 304480 rs555691861 11:35017050-35017050 11:34995503-34995503
141 PDHX NM_003477.3(PDHX):c.*650G>ASNV Uncertain significance 304483 rs886048249 11:35017369-35017369 11:34995822-34995822
142 PDHX NM_003477.3(PDHX):c.*763G>ASNV Uncertain significance 304485 rs886048250 11:35017482-35017482 11:34995935-34995935
143 DLAT NM_001931.4(DLAT):c.-383T>ASNV Uncertain significance 302441 rs886047691 11:111895814-111895814 11:112025090-112025090
144 DLAT NM_001931.4(DLAT):c.-212C>GSNV Uncertain significance 302444 rs587656558 11:111895985-111895985 11:112025261-112025261
145 DLAT NM_001931.4(DLAT):c.*243T>CSNV Uncertain significance 302467 rs189254124 11:111933502-111933502 11:112062778-112062778
146 DLAT NM_001931.4(DLAT):c.210G>C (p.Arg70=)SNV Uncertain significance 302450 rs782739576 11:111896406-111896406 11:112025682-112025682
147 DLAT NM_001931.4(DLAT):c.402T>C (p.Thr134=)SNV Uncertain significance 302452 rs886047693 11:111899259-111899259 11:112028535-112028535
148 DLAT NM_001931.4(DLAT):c.606G>A (p.Ser202=)SNV Uncertain significance 302454 rs148153443 11:111899615-111899615 11:112028891-112028891
149 DLAT NM_001931.4(DLAT):c.974C>T (p.Pro325Leu)SNV Uncertain significance 302457 rs782527135 11:111908183-111908183 11:112037459-112037459
150 DLAT NM_001931.4(DLAT):c.1735A>G (p.Ile579Val)SNV Uncertain significance 302463 rs371341957 11:111931819-111931819 11:112061095-112061095
151 DLAT NM_001931.4(DLAT):c.*220T>CSNV Uncertain significance 302466 rs886047695 11:111933479-111933479 11:112062755-112062755
152 DLAT NM_001931.4(DLAT):c.*622C>ASNV Uncertain significance 302470 rs139429714 11:111933881-111933881 11:112063157-112063157
153 DLAT NM_001931.4(DLAT):c.*981G>ASNV Uncertain significance 302473 rs886047697 11:111934240-111934240 11:112063516-112063516
154 DLAT NM_001082619.1(PIH1D2):c.814-18T>CSNV Uncertain significance 302480 rs886047698 11:111934963-111934963 11:112064239-112064239
155 PDHX NM_015957.4(APIP):c.-14C>TSNV Uncertain significance 304447 rs886048245 11:34937845-34937845 11:34916298-34916298
156 PDHX NM_015957.4(APIP):c.-18G>ASNV Uncertain significance 304448 rs761199870 11:34937849-34937849 11:34916302-34916302
157 PDHX NM_003477.3(PDHX):c.*743G>ASNV Uncertain significance 304484 rs577162977 11:35017462-35017462 11:34995915-34995915
158 PDHX NM_003477.3(PDHX):c.-7C>TSNV Uncertain significance 304460 rs751680964 11:34938196-34938196 11:34916649-34916649
159 PDHX NM_001135024.1(PDHX):c.115+15G>ASNV Uncertain significance 304455 rs886048246 11:34938048-34938048 11:34916501-34916501
160 PDHX NM_003477.3(PDHX):c.702T>C (p.Thr234=)SNV Uncertain significance 304471 rs772231144 11:34988247-34988247 11:34966700-34966700
161 PDHX NM_003477.3(PDHX):c.*27A>CSNV Uncertain significance 304474 rs74524673 11:35016746-35016746 11:34995199-34995199
162 PDHA1 NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg)SNV Uncertain significance 374322 rs1057518695 X:19371208-19371208 X:19353090-19353090
163 PDHA1 NM_000284.4(PDHA1):c.707C>T (p.Ala236Val)SNV Uncertain significance 664466 X:19373570-19373570 X:19355452-19355452
164 PDHA1 NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)SNV Uncertain significance 655703 X:19375777-19375777 X:19357659-19357659
165 PDHA1 NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del)deletion Uncertain significance 659103 X:19377715-19377726 X:19359597-19359608
166 PDHA1 NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala)SNV Uncertain significance 689626 X:19377041-19377041 X:19358923-19358923
167 PDHA1 NM_000284.4(PDHA1):c.759+26G>ASNV Uncertain significance 533401 rs1555934413 X:19373648-19373648 X:19355530-19355530
168 PDHA1 NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr)SNV Uncertain significance 533402 rs1555933946 X:19371215-19371215 X:19353097-19353097
169 PDHA1 NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser)SNV Uncertain significance 561077 rs1569190092 X:19368202-19368202 X:19350084-19350084
170 PDHA1 NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)SNV Uncertain significance 665997 X:19369426-19369426 X:19351308-19351308
171 PDHA1 NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)SNV Likely benign 803731 X:19362171-19362171 X:19344053-19344053
172 PDHX NM_003477.3(PDHX):c.*123A>GSNV Likely benign 304476 rs59918794 11:35016842-35016842 11:34995295-34995295
173 PDHB NM_000925.3(PDHB):c.*407_*408delAAdeletion Likely benign 369422 rs35161513 3:58413353-58413354 3:58427626-58427627
174 DLAT NM_001931.4(DLAT):c.*1109C>TSNV Likely benign 302474 rs75608010 11:111934368-111934368 11:112063644-112063644
175 PDHX NM_003477.3(PDHX):c.*173G>ASNV Likely benign 304477 rs75863418 11:35016892-35016892 11:34995345-34995345
176 DLAT NM_001931.4(DLAT):c.-157G>ASNV Likely benign 302446 rs587688778 11:111896040-111896040 11:112025316-112025316
177 DLAT NM_001931.4(DLAT):c.-156C>GSNV Likely benign 302447 rs115067052 11:111896041-111896041 11:112025317-112025317
178 DLAT NM_001931.4(DLAT):c.-598C>TSNV Likely benign 302436 rs78298568 11:111895599-111895599 11:112024875-112024875
179 DLAT NM_001931.4(DLAT):c.*96C>ASNV Likely benign 302464 rs534753 11:111933355-111933355 11:112062631-112062631
180 DLD NM_000108.5(DLD):c.*947G>TSNV Likely benign 358583 rs7777259 7:107560651-107560651 7:107920206-107920206
181 DLD NM_000108.5(DLD):c.*855C>TSNV Likely benign 358582 rs116055514 7:107560559-107560559 7:107920114-107920114
182 DLAT NM_001931.4(DLAT):c.-637G>ASNV Likely benign 302435 rs114863504 11:111895560-111895560 11:112024836-112024836
183 DLD NM_000108.5(DLD):c.*1688G>ASNV Likely benign 358589 rs8440 7:107561392-107561392 7:107920947-107920947
184 DLAT NM_001931.4(DLAT):c.*873T>CSNV Likely benign 302471 rs73568056 11:111934132-111934132 11:112063408-112063408
185 PDHX NM_003477.3(PDHX):c.*890T>CSNV Likely benign 304486 rs1049333 11:35017609-35017609 11:34996062-34996062
186 PDHX NM_003477.3(PDHX):c.*200T>CSNV Likely benign 304478 rs16926653 11:35016919-35016919 11:34995372-34995372
187 DLAT NM_001931.4(DLAT):c.46G>A (p.Ala16Thr)SNV Benign/Likely benign 137085 rs150145390 11:111896242-111896242 11:112025518-112025518
188 PDHX NM_003477.3(PDHX):c.-23C>ASNV Benign/Likely benign 214953 rs201033364 11:34938180-34938180 11:34916633-34916633
189 DLD NM_000108.5(DLD):c.439-7T>CSNV Benign/Likely benign 137094 rs10263341 7:107545799-107545799 7:107905354-107905354
190 PDHX NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)SNV Benign/Likely benign 138654 rs11539201 11:34938272-34938272 11:34916725-34916725
191 PDHX NM_003477.3(PDHX):c.241+3G>ASNV Benign/Likely benign 138656 rs78878052 11:34953034-34953034 11:34931487-34931487
192 PDHX NM_003477.3(PDHX):c.339C>T (p.Ile113=)SNV Benign/Likely benign 138657 rs34582941 11:34969150-34969150 11:34947603-34947603
193 PDHX NM_003477.3(PDHX):c.438C>T (p.Asp146=)SNV Benign/Likely benign 138658 rs75182779 11:34979026-34979026 11:34957479-34957479
194 PDHX NM_003477.3(PDHX):c.507C>T (p.Ile169=)SNV Benign/Likely benign 138659 rs79170416 11:34979095-34979095 11:34957548-34957548
195 PDHX NM_003477.3(PDHX):c.531C>T (p.Pro177=)SNV Benign/Likely benign 138660 rs76486106 11:34979119-34979119 11:34957572-34957572
196 DLD NM_000108.5(DLD):c.684+7G>ASNV Benign/Likely benign 137096 rs75123588 7:107546820-107546820 7:107906375-107906375
197 DLD NM_000108.5(DLD):c.685-14T>ASNV Benign/Likely benign 137097 rs80111449 7:107555937-107555937 7:107915492-107915492
198 DLD NM_000108.5(DLD):c.1351C>T (p.Leu451=)SNV Benign/Likely benign 137100 rs1803921 7:107558483-107558483 7:107918038-107918038
199 DLAT NM_001931.4(DLAT):c.626A>G (p.Gln209Arg)SNV Benign/Likely benign 137090 rs11553595 11:111899635-111899635 11:112028911-112028911
200 DLAT NM_001931.4(DLAT):c.693C>T (p.Thr231=)SNV Benign/Likely benign 137091 rs34680691 11:111904160-111904160 11:112033436-112033436
201 DLD NM_000108.5(DLD):c.*18A>TSNV Benign 137102 rs8721 7:107559722-107559722 7:107919277-107919277
202 PDHX NM_003477.3(PDHX):c.798T>C (p.Pro266=)SNV Benign 138662 rs61760973 11:34988343-34988343 11:34966796-34966796
203 PDHB NM_000925.4(PDHB):c.*296C>GSNV Benign 346399 rs7231 3:58413465-58413465 3:58427738-58427738
204 PDHB NM_000925.4(PDHB):c.*243A>CSNV Benign 346400 rs1126722 3:58413518-58413518 3:58427791-58427791
205 PDHB NM_000925.4(PDHB):c.*356A>GSNV Benign 346397 rs1126737 3:58413405-58413405 3:58427678-58427678
206 PDHX NM_003477.3(PDHX):c.63C>T (p.Pro21=)SNV Benign 286137 rs2956109 11:34938265-34938265 11:34916718-34916718
207 PDHX NM_003477.3(PDHX):c.-4C>GSNV Benign 286346 rs3818401 11:34938199-34938199 11:34916652-34916652
208 PDHX NM_003477.3(PDHX):c.67C>T (p.Arg23Cys)SNV Benign 286347 rs1049306 11:34938269-34938269 11:34916722-34916722
209 PDHX NM_003477.3(PDHX):c.108T>C (p.Ser36=)SNV Benign 286348 rs1049307 11:34938310-34938310 11:34916763-34916763
210 PDHB NM_000925.4(PDHB):c.*99C>TSNV Benign 346402 rs7230 3:58413662-58413662 3:58427935-58427935
211 DLAT NM_001931.4(DLAT):c.128C>T (p.Ala43Val)SNV Benign 128897 rs2303436 11:111896324-111896324 11:112025600-112025600
212 DLAT NM_001931.4(DLAT):c.1351G>A (p.Asp451Asn)SNV Benign 128898 rs10891314 11:111916647-111916647 11:112045923-112045923
213 DLAT NM_001931.4(DLAT):c.953T>C (p.Val318Ala)SNV Benign 128899 rs627441 11:111908162-111908162 11:112037438-112037438
214 PDHB NM_000925.4(PDHB):c.438G>A (p.Gly146=)SNV Benign 129880 rs1126551 3:58416535-58416535 3:58430808-58430808
215 PDHA1 NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)SNV Benign 10885 rs2229137 X:19375782-19375782 X:19357664-19357664
216 DLD NM_000108.5(DLD):c.*1451T>CSNV Benign 358588 rs2108223 7:107561155-107561155 7:107920710-107920710
217 DLD NM_000108.5(DLD):c.*28G>TSNV Benign 358573 rs17154615 7:107559732-107559732 7:107919287-107919287
218 DLD NM_000108.5(DLD):c.*487C>TSNV Benign 358579 rs4518 7:107560191-107560191 7:107919746-107919746
219 PDHB NM_000925.4(PDHB):c.*92C>ASNV Benign 346403 rs4228 3:58413669-58413669 3:58427942-58427942
220 PDHB NM_000925.4(PDHB):c.*353T>CSNV Benign 346398 rs1126735 3:58413408-58413408 3:58427681-58427681
221 DLD NM_000108.5(DLD):c.*207G>ASNV Benign 358575 rs4564 7:107559911-107559911 7:107919466-107919466
222 DLD NM_000108.5(DLD):c.*978T>CSNV Benign 358584 rs2158835 7:107560682-107560682 7:107920237-107920237
223 PDHX NM_001135024.1(PDHX):c.115+41C>TSNV Benign 304457 rs112032820 11:34938074-34938074 11:34916527-34916527
224 PDHX NM_001135024.1(PDHX):c.115+82C>ASNV Benign 304459 rs2956110 11:34938115-34938115 11:34916568-34916568
225 PDHX NM_015957.4(APIP):c.57+78A>GSNV Benign 304443 rs2016814 11:34937697-34937697 11:34916150-34916150
226 PDHX NM_015957.4(APIP):c.57+77C>TSNV Benign 304444 rs16926448 11:34937698-34937698 11:34916151-34916151
227 DLAT NM_001931.4(DLAT):c.*419A>GSNV Benign 302469 rs9371 11:111933678-111933678 11:112062954-112062954
228 PDHX NM_003477.3(PDHX):c.301A>G (p.Thr101Ala)SNV Benign 304463 rs11539202 11:34969112-34969112 11:34947565-34947565
229 PDHX NM_003477.3(PDHX):c.858T>C (p.Val286=)SNV Benign 304473 rs497582 11:34991727-34991727 11:34970180-34970180
230 PDHX NM_003477.3(PDHX):c.*644C>ASNV Benign 304482 rs7808 11:35017363-35017363 11:34995816-34995816
231 PDHX NM_015957.4(APIP):c.19C>T (p.Arg7Trp)SNV Benign 304445 rs2956114 11:34937813-34937813 11:34916266-34916266
232 DLAT NM_001931.4(DLAT):c.*1232_*1235dupAGGAshort repeat Benign 302475 rs368743837 11:111934483-111934484 11:112063759-112063760
233 PDHX NM_003477.3(PDHX):c.*486G>TSNV Benign 304481 rs9326 11:35017205-35017205 11:34995658-34995658
234 DLAT NM_001931.4(DLAT):c.*1248G>CSNV Benign 302476 rs9822 11:111934507-111934507 11:112063783-112063783
235 PDHX NM_001135024.1(PDHX):c.115+46G>CSNV Benign 304458 rs375130125 11:34938079-34938079 11:34916532-34916532
236 PDHX NM_003477.3(PDHX):c.641+4T>CSNV Benign 304470 rs2767035 11:34982069-34982069 11:34960522-34960522
237 PDHX NM_001135024.1(PDHX):c.115+41_115+43deldeletion Benign 304456 rs371074122 11:34938072-34938074 11:34916525-34916527
238 PDHX NM_015957.4(APIP):c.-53C>TSNV Benign 304449 rs2956113 11:34937884-34937884 11:34916337-34916337
239 PDHX NM_015957.4(APIP):c.-70T>CSNV Benign 304450 rs2956112 11:34937901-34937901 11:34916354-34916354
240 PDHX NM_001166158.1(PDHX):c.-272G>ASNV Benign 304451 rs2956111 11:34937931-34937931 11:34916384-34916384
241 PDHX NM_001166158.1(PDHX):c.-202A>GSNV Benign 304454 rs113073242 11:34938001-34938001 11:34916454-34916454
242 DLD , LAMB1 NM_002291.3(LAMB1):c.5225-7C>TSNV Benign 369575 rs3213673 7:107564539-107564539 7:107924094-107924094

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

73 (showing 20, show less)
# 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 rs113169179
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 rs106479414
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

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 (showing 2, show less)
# 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:

(showing 14, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 SUOX SLC2A1 SLC19A3 PDHX PDHB PDHA1
2
Show member pathways
12.38 SLC2A1 PDHX PDHB PDHA1 PC DLAT
3 12.31 SLC2A1 PDHA1 LONP1 DLAT
4
Show member pathways
11.85 PDHX PDHB PDHA1 DLAT
5
Show member pathways
11.76 PDHB PDHA1 PC HIBCH ECHS1 DLAT
6 11.72 SLC2A1 PDHB PDHA1
7
Show member pathways
11.72 PDHB PDHA1 PC DLAT
8 11.7 SLC2A1 PDHB PDHA1
9 11.63 PDHX PDHA1 PC HIBCH
10 11.47 SLC2A1 PDHB PDHA1
11
Show member pathways
11.38 PDHX PDHB PDHA1 DLAT
12
Show member pathways
11.08 PDHB PDHA1 PC DLAT
13 10.88 PC ECHS1
14
Show member pathways
10.57 PDHX PDHB PDHA1 LIPT1 DLAT

GO Terms for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.77 SUOX POLG PDHX PDHB PDHA1 PC
2 pyruvate dehydrogenase complex GO:0045254 9.46 PDHX PDHB PDHA1 DLAT
3 mitochondrial matrix GO:0005759 9.36 SUOX PDHX PDHB PDHA1 PC LONP1

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

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 glucose metabolic process GO:0006006 9.5 PDHB PDHA1 DLAT
2 tricarboxylic acid cycle GO:0006099 9.43 PDHB PDHA1 DLAT
3 mitochondrial acetyl-CoA biosynthetic process from pyruvate GO:0061732 9.33 PDHX PDHB PDHA1
4 acetyl-CoA biosynthetic process from pyruvate GO:0006086 9.13 PDHB PDHA1 DLAT
5 pyruvate metabolic process GO:0006090 9.02 PDHX PDHB PDHA1 PC DLAT

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 pyruvate dehydrogenase (acetyl-transferring) activity GO:0004739 8.96 PDHB PDHA1
2 pyruvate dehydrogenase (NAD+) activity GO:0034604 8.92 PDHX PDHB PDHA1 DLAT

Sources for Pyruvate Dehydrogenase E1-Alpha Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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