MCID: PYR022
MIFTS: 52

Pyruvate Dehydrogenase E1-Alpha Deficiency malady

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

Aliases & Classifications for Pyruvate Dehydrogenase E1-Alpha Deficiency

About this section
Sources:
49OMIM, 11diseasecard, 22GeneTests, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 65UMLS, 36MeSH, 23Genetics Home Reference, 29ICD9CM, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Pyruvate Dehydrogenase E1-Alpha Deficiency:

Name: Pyruvate Dehydrogenase E1-Alpha Deficiency 49 11 22 51 24 67
Pyruvate Dehydrogenase Deficiency 10 45 23 51 65 67
Pyruvate Decarboxylase Deficiency 10 45 12 51 65 67
Pyruvate Dehydrogenase Complex Deficiency 45 22 23 51 24
Pyruvate Dehydrogenase Complex Deficiency Disease 10 65 36
Pdh Deficiency 22 23 67
Pdhc 45 22 51
Pdhad 51 67
Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency 45
Ataxia Intermittent with Pyruvate Dehydrogenase or Decarboxylase Deficiency 67
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency 51
 
Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency 23
Ataxia Intermittent with Abnormal Pyruvate Metabolism 67
Pyruvate Dehydrogenase E1 Alpha Deficiency 65
Pyruvate Dehydrogenase E1 a Deficiency 22
Ataxia with Lactic Acidosis, Type I 65
Deficiency of Pyruvic Dehydrogenase 10
Ataxia with Lactic Acidosis 1 45
Ataxia with Lactic Acidosis I 67
Ataxia with Lactic Acidosis 23
Pdhc Deficiency 23
Pdh 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
pyruvate dehydrogenase deficiency:
Inheritance: Autosomal recessive,Not applicable,X-linked dominant; Age of onset: Childhood,Infancy,Neonatal; Age of death: adolescent,late childhood
pyruvate dehydrogenase e1-alpha deficiency:
Inheritance: X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood


External Ids:

OMIM49 312170
Disease Ontology10 DOID:3649
ICD9CM29 271.8
MeSH36 D015325
Orphanet51 765, 79243
ICD10 via Orphanet28 E74.4
MESH via Orphanet37 C536257, D015325
UMLS via Orphanet66 C0034345, C2936911
ICD1027 R27.0

Summaries for Pyruvate Dehydrogenase E1-Alpha Deficiency

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NIH Rare Diseases:45 Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake. childhood-onset forms of the condition are often associated with intermittent periods of illness but normal neurological development. prognosis is difficult to predict due to the many causes of the condition, but in most cases of neonatal and infantile onset, prognosis is described as poor. the most common form of pyruvate dehydrogenase deficiency is caused by mutations in the e1 alpha gene, and is inherited in an x-linked dominant manner; all other forms are caused by various genes and are inherited in an autosomal recessive manner. in addition to directly treating acidosis and providing alternative energy for the body, treatment typically includes dietary supplementation with thiamine, carnitine, and lipoic acids, although not all individuals respond to this therapy. last updated: 1/4/2011

MalaCards based summary: Pyruvate Dehydrogenase E1-Alpha Deficiency, also known as pyruvate dehydrogenase deficiency, is related to leigh syndrome and pyruvate carboxylase deficiency, and has symptoms including muscular hypotonia, reduced consciousness/confusion and feeding difficulties in infancy. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (Pyruvate Dehydrogenase (Lipoamide) Alpha 1), and among its related pathways are Propanoate metabolism and . Affiliated tissues include eye, cortex and brain, and related mouse phenotype liver/biliary system.

Disease Ontology:10 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:23 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:49 Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in... (312170) more...

UniProtKB/Swiss-Prot:67 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:68 Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD) is... more...

Related Diseases for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1leigh syndrome30.1ECHS1, PDHA1, PDHB, PDHX, PDP1, SLC19A3
2pyruvate carboxylase deficiency10.6
3lactic acidosis10.5
4west syndrome10.4
5encephalopathy10.4
6anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.3
7trichohepatoenteric syndrome 110.3
8trichohepatoenteric syndrome 210.3
9mitochondrial pyruvate carrier deficiency10.3
10autism susceptibility, x-linked 210.3
11mental retardation, x-linked 310.3
12metabolic syndrome x10.3
13metabolic acidosis10.3
14carbohydrate metabolic disorder10.3
15mitochondrial metabolism disease10.3
16nutritional deficiency disease10.3
17prion disease10.3
18x-linked disease10.3
19genetic brain disorders10.3
20neurologic diseases10.3
21mitochondrial disorders10.3
22lactate dehydrogenase b deficiency10.3
23lactate dehydrogenase deficiency10.3
24mitochondrial genetic disorders10.3
25intellectual disability10.3
26hyperammonemia10.2
27ataxia10.2
28pyruvate dehydrogenase phosphatase deficiency10.2
29ischemia10.2
30hypoxia10.2
31pyruvate dehydrogenase e1-beta deficiency10.2
32pyruvate dehydrogenase e2 deficiency10.2
33periventricular leukomalacia10.2
34cerebritis10.2
35dystonia10.2
36spinocerebellar degeneration10.2
37leukomalacia10.2
38tuberculum sellae meningioma10.1PC, SLC19A3
39breast cancer10.1
40dihydrolipoamide dehydrogenase deficiency10.1
41lacticacidemia due to pdx1 deficiency10.1
42primary biliary cirrhosis10.1
43oculodental syndrome, rutherfurd type10.0ECHS1, PDHA1, SLC19A3
44lagophthalmos10.0DLAT, PC, PDHA1, PDHX, PDP1
45neuroschistosomiasis10.0SLC19A2, SLC19A3, SLC25A19
46adult type testicular granulosa cell tumor9.9SLC19A2, SLC19A3
47thiamine metabolism dysfunction syndrome 29.9SLC19A2, SLC19A3, SLC25A19
48hypophosphatemic rickets, x-linked dominant7.6DLAT, ECHS1, FLNA, HIBCH, NFU1, NHS

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



Diseases related to pyruvate dehydrogenase e1-alpha deficiency

Symptoms for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Symptoms by clinical synopsis from OMIM:

312170

Clinical features from OMIM:

312170

Symptoms:

 51 (show all 38)
  • facial dysmorphism
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • motor deficit/trouble
  • hypotonia
  • obnubilation/coma/lethargia/desorientation
  • autosomal recessive inheritance
  • x-linked dominant inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • abnormal eye movements/oculomotor disorder
  • respiratory rhythm disorder
  • corpus callosum/septum pellucidum total/partial agenesis
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • tremor
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • pyramidal syndrome
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • elocution disorders/dysarthria/dysphonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • intrauterine growth retardation
  • trigonocephaly
  • frontal bossing/prominent forehead
  • narrow face
  • hypertelorism
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • epicanthic folds
  • broad nose/nasal bridge
  • long philtrum
  • high vaulted/narrow palate
  • pectus excavatum
  • xanthomas/lipomas
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • dilated cerebral ventricles without hydrocephaly
  • dystonia/torticollis/writer's cramp/blepharospasms
  • acute palsy
  • early death/lethality

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

(show all 63)
id Description Frequency HPO Source Accession
1 muscular hypotonia hallmark (90%) HP:0001252
2 reduced consciousness/confusion hallmark (90%) HP:0004372
3 feeding difficulties in infancy hallmark (90%) HP:0008872
4 microcephaly typical (50%) HP:0000252
5 abnormality of eye movement typical (50%) HP:0000496
6 seizures typical (50%) HP:0001250
7 hypertonia typical (50%) HP:0001276
8 gait disturbance typical (50%) HP:0001288
9 tremor typical (50%) HP:0001337
10 intrauterine growth retardation typical (50%) HP:0001511
11 chorea typical (50%) HP:0002072
12 neurological speech impairment typical (50%) HP:0002167
13 incoordination typical (50%) HP:0002311
14 abnormal pattern of respiration typical (50%) HP:0002793
15 abnormal pyramidal signs typical (50%) HP:0007256
16 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
17 cognitive impairment typical (50%) HP:0100543
18 abnormal facial shape 35% HP:0001999
19 abnormality of the palate occasional (7.5%) HP:0000174
20 trigonocephaly occasional (7.5%) HP:0000243
21 narrow face occasional (7.5%) HP:0000275
22 epicanthus occasional (7.5%) HP:0000286
23 hypertelorism occasional (7.5%) HP:0000316
24 long philtrum occasional (7.5%) HP:0000343
25 abnormality of the nose occasional (7.5%) HP:0000366
26 upslanted palpebral fissure occasional (7.5%) HP:0000582
27 pectus excavatum occasional (7.5%) HP:0000767
28 multiple lipomas occasional (7.5%) HP:0001012
29 frontal bossing occasional (7.5%) HP:0002007
30 respiratory insufficiency occasional (7.5%) HP:0002093
31 ventriculomegaly occasional (7.5%) HP:0002119
32 cerebral palsy occasional (7.5%) HP:0100021
33 microcephaly HP:0000252
34 long philtrum HP:0000343
35 wide nasal bridge HP:0000431
36 flared nostrils HP:0000454
37 anteverted nares HP:0000463
38 abnormality of eye movement HP:0000496
39 ptosis HP:0000508
40 intellectual disability HP:0001249
41 seizures HP:0001250
42 muscular hypotonia HP:0001252
43 lethargy HP:0001254
44 global developmental delay HP:0001263
45 choreoathetosis HP:0001266
46 agenesis of corpus callosum HP:0001274
47 dystonia HP:0001332
48 x-linked dominant inheritance HP:0001423
49 small for gestational age HP:0001518
50 frontal bossing HP:0002007
51 cerebral atrophy HP:0002059
52 ventriculomegaly HP:0002119
53 episodic ataxia HP:0002131
54 increased serum lactate HP:0002151
55 increased csf lactate HP:0002490
56 apneic episodes precipitated by illness, fatigue, stress HP:0002872
57 decreased activity of the pyruvate dehydrogenase (pdh) complex HP:0002928
58 hyperalaninemia HP:0003348
59 infantile onset HP:0003593
60 phenotypic variability HP:0003812
61 severe lactic acidosis HP:0004900
62 chronic lactic acidosis HP:0004925
63 basal ganglia cysts HP:0006799

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1pyruvateNutraceuticalPhase 327
2
Thiamineapproved, nutraceutical8259-43-81130
Synonyms:
100660-17-1
115461-66-0
1sbr
2-[3-[(4-amino-2-methylpyrimidin-5-yl)methyl]-4-methyl-1,3-thiazol-3-ium-5-yl]ethanol
2-[3-[(4-amino-2-methylpyrimidin-5-yl)methyl]-4-methyl-1,3-thiazol-3-ium-5-yl]ethanol chloride
3-((4-Amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydrox yethyl)-4-methylthiazolium chloride
3-((4-Amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-m- ethylthiazolium chloride, monohydrochloride
3-((4-Amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-methylthiazolium chloride
3-((4-Amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-methylthiazolium chloride monohydrochloride
3-(4-AMINO-2-METHYL-PYRIMIDIN-5-YLMETHYL)-5-(2-HYDROXY-ETHYL)-4-METHYL-THIAZOL-3-IUM
3-(4-AMINO-2-methyl-pyrimidin-5-ylmethyl)-5-(2-hydroxy-ethyl)-4-methyl-thiazol-3-ium
3-[(4-amino-2-methyl-5-pyrimidinyl)methyl]-5-(2-hydroxyethyl)-4-methylthiazolium chloride
3-[(4-amino-2-methylpyrimidin-5-yl)methyl]-5-(2-hydroxyethyl)-4-methyl-1,3-thiazol-3-ium
3-[(4-amino-2-methylpyrimidin-5-yl)methyl]-5-(2-hydroxyethyl)-4-methyl-1,3-thiazol-3-ium chloride
3-[(4-amino-2-methylpyrimidin-5-yl)methyl]-5-(2-hydroxyethyl)-4-methyl-1,3-thiazol-3-ium chloride hydrochloride
3[(4-Amino-2-methyl-5-pyrimidinyl)-methyl]-5-(2-hydroxyethyl)-4-methylthiazolium chloride
55463-15-5
57777-32-9
59-43-8
67-03-8
AC-11683
AC1L1ASK
AC1L1LOC
AC1LAODT
AC1Q4V9Q
AI3-18993
AKOS000668650
AR-1L8201
Aneurin
Aneurine
Antiberiberi factor
Apatate drape
Apate drops
B-Amin
BAS 00266240
BPBio1_000686
BSPBio_000622
Beatine
Bedome
Begiolan
Beivon
Benerva
Bequin
Berin
Betabion
Betalin S
Betaxin
Bethiamin
Bethiazine
Beuion
Bevitex
Bevitine
Bewon
Biamine
Bithiamin
Biuno
Bivatin
Bivita
C00378
C12H17N4OS
CCRIS 1906
CCRIS 5823
CHEBI:18385
CHEBI:33283
CHEBI:49105
CHEMBL1547
CHEMBL1588
CID1130
CID517305
CID6042
Cernevit-12
Chloride-hydrochloride salt of thiamine
Clotiamina
D08580
DB00152
EINECS 200-425-3
EINECS 200-641-8
Eskapen
Eskaphen
FEMA No. 3322
HSDB 220
 
Hybee
I14-14339
LS-3226
LT00233141
Lixa-beta
MLS001304099
Metabolin
MolPort-000-722-048
MolPort-001-920-086
MolPort-002-052-059
NChemBio.2007.13-comp10
NSC 36226
NSC36226
Oryzanin
Oryzanine
Prestwick0_000631
Prestwick1_000631
Prestwick2_000631
Prestwick3_000631
SBB058094
SMP1_000084
SMR000718788
SPBio_002841
ST095175
Slowten
THD
THIAMIN, VITAMIN B1
Thiadoxine
Thiamin
Thiamin dichloride
Thiaminal
Thiamine
Thiamine (INN)
Thiamine HCL
Thiamine Hydrochloride
Thiamine [INN:BAN]
Thiamine chloride
Thiamine chloride hydrochloride
Thiamine dichloride
Thiamine hydrochloride [JAN]
Thiamine monochloride
Thiamine monohydrochloride
Thiamine, chloride
Thiamine, chloride, hydrochloride
Thiamine, monohydrochloride
Thiaminium
Thiaminium chloride hydrochloride
Thiaminum
Thiaminum [INN-Latin]
Thiamol
Thiavit
Thiazolium, 3-((4-amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-m- ethyl, chloride, monohydrochloride
Thiazolium, 3-((4-amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-methyl- chloride
Thiazolium, 3-((4-amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-methyl- chloride (1:1)
Thiazolium, 3-((4-amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-methyl-, chloride, monohydrochloride
Thiazolium, 3-((4-amino-2-methyl-5-pyrimidinyl)methyl)-5-(2-hydroxyethyl)-4-methyl-chloride
Tiamidon
Tiamina
Tiamina [INN-Spanish]
Tiaminal
TimTec1_000613
Trophite
UNII-X66NSO3N35
VIB
Vetalin S
Vinothiam
Vitamin B1
Vitamin B1 (TN)
Vitamin B1 hydrochloride (VAN)
Vitaneurin
Vitaneuron
ZINC00049153
[5-[[5-(2-hydroxyethyl)-4-methyl-1,3-thiazol-3-ium-3-yl]methyl]-2-methylpyrimidin-4-yl]azanium dichloride
bmse000274
nchembio.121-comp5
thiamin
thiamine
thiamine(1+)
thiamine(1+) ion
thiaminium
vitamin B1
vitamin b1(thiamine)
3ThiaminNutraceutical82

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:Not yet recruitingNCT02616484Phase 3
2From Uncomplicated Alcoholism to Korsakoff's SyndromeRecruitingNCT01455207
3Compassionate Use of Triheptanoin (C7) for Fatty Acid Oxidation Disorders and Glycogen Storage DiseaseAvailableNCT01461304
4A Pilot Study of Rapid Haplotyping Procedure for Personalized Dosing of Dichloroacetate (DCA) in Healthy VolunteersNot yet recruitingNCT02690285

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

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Genetic tests related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase Complex Deficiency22 24
2 Pyruvate Dehydrogenase E1-Alpha Deficiency22 24 PDHA1

Anatomical Context for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

33
Eye, Cortex, Brain, Lung

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

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MGI Mouse Phenotypes related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.8FLNA, NR4A1, PANK2, PCK1, SCP2, SLC19A3

Publications for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Variations for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

67 (show all 20)
id Symbol AA change Variation ID SNP ID
1PDHA1p.Arg72CysVAR_004949
2PDHA1p.His113AspVAR_004950
3PDHA1p.Gly162ArgVAR_004951
4PDHA1p.Val167MetVAR_004952
5PDHA1p.Ala199ThrVAR_004953
6PDHA1p.Phe205LeuVAR_004954
7PDHA1p.Met210ValVAR_004955
8PDHA1p.Pro217LeuVAR_004956
9PDHA1p.Thr231AlaVAR_004957
10PDHA1p.Asp258AlaVAR_004958
11PDHA1p.Arg263GlyVAR_004959rs28936081
12PDHA1p.Arg263GlnVAR_004960
13PDHA1p.His292LeuVAR_004961
14PDHA1p.Arg302CysVAR_004962
15PDHA1p.Arg302HisVAR_004963
16PDHA1p.Arg378HisVAR_004966
17PDHA1p.Arg10ProVAR_010238
18PDHA1p.Tyr243AsnVAR_021053
19PDHA1p.Arg288HisVAR_021055
20PDHA1p.Asp315AsnVAR_021056rs28935187

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

5 (show all 35)
id Gene Variation Type Significance SNP ID Assembly Location
1PDHA1NM_000284.3(PDHA1): c.1167_1170delCAGT (p.Ser390Lysfs)deletionPathogenicrs606231184GRCh38Chr X, 19359647: 19359650
2PDHA1NM_000284.3(PDHA1): c.934_940delAGTAAGA (p.Ser312Valfs)deletionPathogenicrs606231185GRCh38Chr X, 19358950: 19358956
3PDHA1NM_000284.3(PDHA1): c.1133G> A (p.Arg378His)single nucleotide variantPathogenicrs137853250GRCh37Chr X, 19377731: 19377731
4PDHA1NM_000284.3(PDHA1): c.937_939delAAG (p.Lys313del)deletionPathogenicrs137853251GRCh37Chr X, 19377071: 19377073
5PDHA1NM_000284.3(PDHA1): c.1159_1160delAA (p.Lys387Valfs)deletionPathogenicrs606231186GRCh38Chr X, 19359639: 19359640
6PDHA1NM_000284.3(PDHA1): c.1073_1092del20 (p.Glu358Glyfs)deletionPathogenicrs606231187GRCh38Chr X, 19359553: 19359572
7PDHA1NM_000284.3(PDHA1)duplicationPathogenicrs606231188GRCh38Chr X, 19358913: 19358933
8PDHA1NM_000284.3(PDHA1): c.787C> G (p.Arg263Gly)single nucleotide variantPathogenicrs137853259GRCh37Chr X, 19373831: 19373831
9PDHA1NM_000284.3(PDHA1): c.904C> T (p.Arg302Cys)single nucleotide variantPathogenicrs137853252GRCh37Chr X, 19377038: 19377038
10PDHA1NM_000284.3(PDHA1): c.1142_1145dupATCA (p.Trp383Serfs)duplicationPathogenicrs606231189GRCh38Chr X, 19359622: 19359625
11PDHA1NM_000284.3(PDHA1): c.773A> C (p.Asp258Ala)single nucleotide variantPathogenicrs137853253GRCh37Chr X, 19373817: 19373817
12PDHA1NM_000284.3(PDHA1): c.615C> G (p.Phe205Leu)single nucleotide variantPathogenicrs137853254GRCh37Chr X, 19373478: 19373478
13PDHA1NM_000284.3(PDHA1): c.727T> A (p.Tyr243Asn)single nucleotide variantPathogenicrs137853255GRCh37Chr X, 19373590: 19373590
14PDHA1NM_000284.3(PDHA1): c.943G> A (p.Asp315Asn)single nucleotide variantPathogenicrs137853256GRCh37Chr X, 19377077: 19377077
15PDHA1NM_000284.3(PDHA1): c.844A> C (p.Met282Leu)single nucleotide variantPathogenicrs2229137GRCh37Chr X, 19375782: 19375782
16PDHA1NM_000284.3(PDHA1): c.861_862insT (p.Arg288Serfs)insertionPathogenicrs606231190GRCh38Chr X, 19357681: 19357682
17PDHA1NM_000284.3(PDHA1): c.29G> C (p.Arg10Pro)single nucleotide variantPathogenicrs137853257GRCh37Chr X, 19362184: 19362184
18PDHA1PDHA1, 13-BP INS, EX10insertionPathogenic
19PDHA1NM_000284.3(PDHA1)duplicationPathogenicrs606231191GRCh38Chr X, 19359554: 19359589
20PDHA1NM_000284.3(PDHA1): c.863G> A (p.Arg288His)single nucleotide variantPathogenicrs137853258GRCh37Chr X, 19375801: 19375801
21PDHA1NM_000284.3(PDHA1): c.*79_*90dupAGTCAATGAAATduplicationPathogenicrs606231192GRCh38Chr X, 19359732: 19359743
22PDHA1NM_000284.3(PDHA1): c.648A> C (p.Leu216Phe)single nucleotide variantPathogenicrs121917898GRCh37Chr X, 19373511: 19373511
23PDHXPDHX, ARG446TERsingle nucleotide variantPathogenic
24PDHA1NM_000284.3(PDHA1): c.422G> A (p.Arg141Gln)single nucleotide variantPathogenicrs794729213GRCh37Chr X, 19371203: 19371203
25PDHXPDHX, 85-BP DEL, NT78deletionPathogenic
26PDHXNM_003477.2(PDHX): c.965_1023del59 (p.Asp322Alafs)deletionPathogenicGRCh38Chr 11, 34978124: 34978182
27PDHXNM_003477.2(PDHX): c.87_90delGAAG (p.Lys30Glyfs)deletionPathogenicrs724159828GRCh38Chr 11, 34916742: 34916745
28PDHXNM_003477.2(PDHX): c.641+1G> Asingle nucleotide variantPathogenicrs724159829GRCh38Chr 11, 34960519: 34960519
29PDHXNM_003477.2(PDHX): c.1024-1G> Asingle nucleotide variantPathogenicrs724159830GRCh38Chr 11, 34984569: 34984569
30PDHXNM_003477.2(PDHX): c.620delC (p.Pro207Leufs)deletionPathogenicrs724159979GRCh38Chr 11, 34960497: 34960497
31PDHXAJ298105.1: g.61273_107768del46496ins6086deletionPathogenic
32PDHXNM_003477.2(PDHX): c.742C> T (p.Gln248Ter)single nucleotide variantPathogenicrs113309941GRCh37Chr 11, 34988287: 34988287
33PDHXNM_003477.2(PDHX): c.1183-3088_1247+760deldeletionPathogenicGRCh38Chr 11, 34989227: 34993139
34PDP1PDP1, 3-BP DEL, LEU213deletionPathogenic
35PDP1NM_018444.3(PDP1): c.277G> T (p.Glu93Ter)single nucleotide variantPathogenicrs267606938GRCh37Chr 8, 94934564: 94934564

Expression for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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

Pathways for genes affiliated with Pyruvate Dehydrogenase E1-Alpha Deficiency

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

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0ECHS1, HIBCH
2
Fatty Acid Biosynthesis (WikiPathways)
Show member pathways
10.0ECHS1, HIBCH
39.8PDHA1, PDHB, SLC2A1
49.8PDHA1, PDHB, SLC2A1
59.8SLC19A2, SLC19A3
6
Show member pathways
9.7DLAT, PDHA1, PDHB, PDHX
7
Show member pathways
9.5DLAT, PDHA1, PDHB, PDHX, PDP1
89.4PCK1, PDHA1, PDHB, SLC2A1
9
Show member pathways
9.2DLAT, PC, PCK1, PDHA1, PDHB
10
Show member pathways
9.2DLAT, PC, PCK1, PDHA1, PDHB
119.2DLAT, PCK1, PDHA1, PDHX, SLC2A1
12
Show member pathways
8.8DLAT, PC, PCK1, PDHA1, PDHB, PDHX
13
Show member pathways
8.8DLAT, ECHS1, HIBCH, PC, PCK1, PDHA1
14
Show member pathways
8.7PANK2, PC, SLC19A2, SLC19A3, SLC2A1
15
Show member pathways
6.5DLAT, ECHS1, HIBCH, PANK2, PC, PCK1

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

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

idNameGO IDScoreTop Affiliating Genes
1pyruvate dehydrogenase complexGO:004525410.3DLAT, PDHA1, PDHB, PDHX
2mitochondrial matrixGO:00057598.7DLAT, ECHS1, HIBCH, PC, PDHA1, PDHB
3mitochondrionGO:00057397.0DLAT, ECHS1, HIBCH, NFU1, PANK2, PC

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial acetyl-CoA biosynthetic process from pyruvateGO:006173210.7PDHB, PDHX
2acetyl-CoA biosynthetic process from pyruvateGO:000608610.5DLAT, PDHA1, PDHB
3tricarboxylic acid cycleGO:000609910.5DLAT, PDHA1, PDHB
4thiamine transportGO:001588810.4SLC19A2, SLC19A3
5thiamine-containing compound metabolic processGO:004272310.4SLC19A2, SLC19A3
6thiamine transmembrane transportGO:007193410.4SLC19A2, SLC19A3
7drug transmembrane transportGO:000685510.3SLC19A2, SLC19A3
8regulation of acetyl-CoA biosynthetic process from pyruvateGO:001051010.1DLAT, PDHA1, PDHB, PDHX, PDP1
9cellular metabolic processGO:00442379.9DLAT, PDHA1, PDHB, PDHX, PDP1
10pyruvate metabolic processGO:00060909.8DLAT, PC, PDHA1, PDHB, PDHX, PDP1
11glucose metabolic processGO:00060069.7DLAT, PC, PCK1, PDHA1, PDHB
12vitamin metabolic processGO:00067669.0PANK2, PC, SLC19A2, SLC19A3, SLC2A1
13water-soluble vitamin metabolic processGO:00067679.0PANK2, PC, SLC19A2, SLC19A3, SLC2A1
14metabolic processGO:00081528.6DLAT, ECHS1, HIBCH, PC, PDHA1, PDHB
15small molecule metabolic processGO:00442816.5DLAT, ECHS1, HIBCH, PANK2, PC, PCK1

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

idNameGO IDScoreTop Affiliating Genes
1pyruvate dehydrogenase activityGO:000473810.7PDHA1, PDHB
2pyruvate dehydrogenase (acetyl-transferring) activityGO:000473910.6PDHA1, PDHB
3pyruvate dehydrogenase (NAD+) activityGO:003460410.3DLAT, PDHB, PDHX
4thiamine uptake transmembrane transporter activityGO:001540310.2SLC19A2, SLC19A3
5catalytic activityGO:00038249.0ECHS1, HIBCH, PC, PDHB, PDP1, SCP2

Sources for Pyruvate Dehydrogenase E1-Alpha Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet