PDHAD
MCID: PYR022
MIFTS: 50

Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHAD) malady

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

Aliases & Classifications for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pyruvate Dehydrogenase E1-Alpha Deficiency:

Name: Pyruvate Dehydrogenase E1-Alpha Deficiency 52 24 54 70 27 12
Pyruvate Dehydrogenase Complex Deficiency 48 24 25 54 27
Pyruvate Dehydrogenase Deficiency 11 48 25 54 70
Pyruvate Decarboxylase Deficiency 11 48 54 70 13
Pyruvate Dehydrogenase Complex Deficiency Disease 11 39 68
Pdh Deficiency 24 25 70
Pdhc Deficiency 24 25
Pdhad 54 70
Pdhc 48 54
Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency 48
Ataxia Intermittent with Pyruvate Dehydrogenase or Decarboxylase Deficiency 70
 
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency 54
Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency 25
Ataxia Intermittent with Abnormal Pyruvate Metabolism 70
Pyruvate Dehydrogenase E1 Alpha Deficiency 68
Pyruvate Dehydrogenase E1 a Deficiency 24
Deficiency of Pyruvic Dehydrogenase 11
Ataxia with Lactic Acidosis 1 48
Ataxia with Lactic Acidosis I 70
Ataxia with Lactic Acidosis 25
Pdh 54

Characteristics:

Orphanet epidemiological data:

54
pyruvate dehydrogenase complex 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
pyruvate dehydrogenase e1-alpha deficiency:
Inheritance: X-linked dominant; Age of onset: Infancy,Neonatal; Age of death: adolescent,late childhood

HPO:

64
pyruvate dehydrogenase e1-alpha deficiency:
Inheritance: x-linked dominant inheritance
Onset and clinical course: infantile onset, phenotypic variability

Classifications:



External Ids:

OMIM52 312170
Disease Ontology11 DOID:3649
ICD1030 E74.4, R27.0
MeSH39 D015325
NCIt45 C103968
MESH via Orphanet40 C536257, D015325
UMLS via Orphanet69 C0034345, C2936911
ICD10 via Orphanet31 E74.4

Summaries for Pyruvate Dehydrogenase E1-Alpha Deficiency

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NIH Rare Diseases:48 Pyruvate dehydrogenase deficiency is metabolic disorder associated with abnormal function of the mitochondria in cells, thus depriving the body of energy. progressive neurological symptoms usually start in infancy but may be evident at birth, or in later childhood; these symptoms may include developmental delay, intermittent ataxia, poor muscle tone (hypotonia), abnormal eye movements, or seizures. severe lethargy, poor feeding, and tachypnea (rapid breathing) commonly occur, especially during times of illness, stress, or high carbohydrate intake. childhood-onset forms of the condition are often associated with intermittent periods of illness but normal neurological development. prognosis is difficult to predict due to the many causes of the condition, but in most cases of neonatal and infantile onset, prognosis is described as poor. the most common form of pyruvate dehydrogenase deficiency is caused by mutations in the e1 alpha gene, and is inherited in an x-linked dominant manner; all other forms are caused by various genes and are inherited in an autosomal recessive manner. in addition to directly treating acidosis and providing alternative energy for the body, treatment typically includes dietary supplementation with thiamine, carnitine, and lipoic acids, although not all individuals respond to this therapy. last updated: 1/4/2011

MalaCards based summary: Pyruvate Dehydrogenase E1-Alpha Deficiency, also known as pyruvate dehydrogenase complex deficiency, is related to pyruvate carboxylase deficiency and pyruvate dehydrogenase e1-beta deficiency, and has symptoms including lethargy, seizures and nasal flaring. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (Pyruvate Dehydrogenase (Lipoamide) Alpha 1), and among its related pathways are Fatty Acid Biosynthesis (WikiPathways) and Propanoate metabolism. Affiliated tissues include eye, cortex and brain, and related mouse phenotype Decreased shRNA abundance (Z-score < -2).

Disease Ontology:11 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:52 Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in... (312170) more...

UniProtKB/Swiss-Prot:70 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.

Related Diseases for Pyruvate Dehydrogenase E1-Alpha Deficiency

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



Diseases related to pyruvate dehydrogenase e1-alpha deficiency

Symptoms & Phenotypes for Pyruvate Dehydrogenase E1-Alpha Deficiency

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Symptoms by clinical synopsis from OMIM:

312170

Clinical features from OMIM:

312170

Human phenotypes related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

 54 64 (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate64 54 Occasional (29-5%) HP:0000218
2 trigonocephaly64 54 Occasional (29-5%) HP:0000243
3 microcephaly64 54 Frequent (79-30%) HP:0000252
4 narrow face64 54 Occasional (29-5%) HP:0000275
5 epicanthus64 54 Occasional (29-5%) HP:0000286
6 hypertelorism64 54 Occasional (29-5%) HP:0000316
7 long philtrum64 54 Occasional (29-5%) HP:0000343
8 wide nasal bridge64 54 Occasional (29-5%) HP:0000431
9 abnormality of eye movement64 54 Frequent (79-30%) HP:0000496
10 upslanted palpebral fissure64 54 Occasional (29-5%) HP:0000582
11 pectus excavatum64 54 Occasional (29-5%) HP:0000767
12 multiple lipomas64 54 Occasional (29-5%) HP:0001012
13 seizures64 54 Frequent (79-30%) HP:0001250
14 ataxia64 54 Frequent (79-30%) HP:0001251
15 muscular hypotonia64 54 Very frequent (99-80%) HP:0001252
16 lethargy64 54 Very frequent (99-80%) HP:0001254
17 spasticity64 54 Frequent (79-30%) HP:0001257
18 dysarthria64 54 Frequent (79-30%) HP:0001260
19 global developmental delay64 54 Frequent (79-30%) HP:0001263
20 choreoathetosis64 54 Frequent (79-30%) HP:0001266
21 gait disturbance64 54 Frequent (79-30%) HP:0001288
22 dystonia64 54 Occasional (29-5%) HP:0001332
23 tremor64 54 Frequent (79-30%) HP:0001337
24 growth delay54 Very frequent (99-80%)
25 intrauterine growth retardation64 54 Frequent (79-30%) HP:0001511
26 abnormal facial shape64 54 Very frequent (99-80%) HP:0001999
27 frontal bossing64 54 Occasional (29-5%) HP:0002007
28 dyspnea64 54 Occasional (29-5%) HP:0002094
29 ventriculomegaly64 54 Occasional (29-5%) HP:0002119
30 tachypnea64 54 Frequent (79-30%) HP:0002789
31 abnormal pyramidal signs64 54 Frequent (79-30%) HP:0007256
32 aplasia/hypoplasia of the corpus callosum64 54 Frequent (79-30%) HP:0007370
33 feeding difficulties in infancy64 54 Very frequent (99-80%) HP:0008872
34 cerebral palsy64 54 Occasional (29-5%) HP:0100021
35 osteolytic defects of the middle phalanx of the 4th toe64 54 Frequent (79-30%) HP:0100453
36 flared nostrils64 HP:0000454
37 anteverted nares64 HP:0000463
38 ptosis64 HP:0000508
39 intellectual disability64 HP:0001249
40 agenesis of corpus callosum64 HP:0001274
41 small for gestational age64 HP:0001518
42 cerebral atrophy64 HP:0002059
43 episodic ataxia64 HP:0002131
44 increased serum lactate64 HP:0002151
45 increased csf lactate64 HP:0002490
46 apneic episodes precipitated by illness, fatigue, stress64 HP:0002872
47 decreased activity of the pyruvate dehydrogenase complex64 HP:0002928
48 hyperalaninemia64 HP:0003348
49 severe lactic acidosis64 HP:0004900
50 chronic lactic acidosis64 HP:0004925
51 basal ganglia cysts64 HP:0006799

UMLS symptoms related to Pyruvate Dehydrogenase E1-Alpha Deficiency:


lethargy, seizures, nasal flaring

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-848.5HIBCH, PC, PDHB

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):

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pyruvateapproved, NutraceuticalPhase 344
Synonyms:
 
2-oxopropanoate
2Pharmaceutical SolutionsPhase 18192
3
Thiamineapproved, nutraceutical, vet_approved10159-43-81130
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 [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)
4Vitamins5282
5Lipid Regulating Agents2766
6Hypolipidemic Agents2785
7Antimetabolites12054
8ACIPIMOX19
9ThiaminNutraceutical101

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:Not yet recruitingNCT02616484Phase 3
2A Pilot Study of Rapid Haplotyping Procedure for Personalized Dosing of Dichloroacetate (DCA) in Healthy VolunteersActive, not recruitingNCT02690285Phase 1
3From Uncomplicated Alcoholism to Korsakoff's SyndromeUnknown statusNCT01455207
4Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex DeficienciesRecruitingNCT03056794
5Lipolytic Effects of GH in Hypopituitary Patients in VivoRecruitingNCT02782208
6Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy MetabolismAvailableNCT01461304

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 E1-Alpha Deficiency27 24 PDHA1
2 Pyruvate Dehydrogenase Complex Deficiency27 24

Anatomical Context for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

36
Eye, Cortex, Brain

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:

70 (show all 20)
id Symbol AA change Variation ID SNP ID
1PDHA1p.Arg72CysVAR_004949rs863224148
2PDHA1p.His113AspVAR_004950
3PDHA1p.Gly162ArgVAR_004951rs866868610
4PDHA1p.Val167MetVAR_004952
5PDHA1p.Ala199ThrVAR_004953
6PDHA1p.Phe205LeuVAR_004954rs137853254
7PDHA1p.Met210ValVAR_004955rs794727843
8PDHA1p.Pro217LeuVAR_004956
9PDHA1p.Thr231AlaVAR_004957
10PDHA1p.Asp258AlaVAR_004958rs137853253
11PDHA1p.Arg263GlyVAR_004959rs28936081
12PDHA1p.Arg263GlnVAR_004960
13PDHA1p.His292LeuVAR_004961
14PDHA1p.Arg302CysVAR_004962rs137853252
15PDHA1p.Arg302HisVAR_004963
16PDHA1p.Arg378HisVAR_004966rs137853250
17PDHA1p.Arg10ProVAR_010238rs137853257
18PDHA1p.Tyr243AsnVAR_021053rs137853255
19PDHA1p.Arg288HisVAR_021055rs137853258
20PDHA1p.Asp315AsnVAR_021056rs28935187

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

5 (show all 24)
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)SNVPathogenicrs137853250GRCh37Chr 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): c.900-3_ 917dup21 (p.Glu305_ Glu306insAspSerTyrArgThrArgGlu)duplicationPathogenicrs606231188GRCh38Chr X, 19358913: 19358933
8PDHA1NM_ 000284.3(PDHA1): c.787C> G (p.Arg263Gly)SNVPathogenicrs137853259GRCh37Chr X, 19373831: 19373831
9PDHA1NM_ 000284.3(PDHA1): c.904C> T (p.Arg302Cys)SNVPathogenic/ Likely pathogenicrs137853252GRCh37Chr 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)SNVPathogenicrs137853253GRCh37Chr X, 19373817: 19373817
12PDHA1NM_ 000284.3(PDHA1): c.615C> G (p.Phe205Leu)SNVPathogenicrs137853254GRCh37Chr X, 19373478: 19373478
13PDHA1NM_ 000284.3(PDHA1): c.727T> A (p.Tyr243Asn)SNVPathogenicrs137853255GRCh37Chr X, 19373590: 19373590
14PDHA1NM_ 000284.3(PDHA1): c.943G> A (p.Asp315Asn)SNVPathogenicrs137853256GRCh37Chr X, 19377077: 19377077
15PDHA1NM_ 000284.3(PDHA1): c.861_ 862insT (p.Arg288Serfs)insertionPathogenicrs606231190GRCh38Chr X, 19357681: 19357682
16PDHA1NM_ 000284.3(PDHA1): c.29G> C (p.Arg10Pro)SNVPathogenicrs137853257GRCh37Chr X, 19362184: 19362184
17PDHA1PDHA1, 13-BP INS, EX10insertionPathogenic
18PDHA1NM_ 000284.3(PDHA1)duplicationPathogenicrs606231191GRCh38Chr X, 19359554: 19359589
19PDHA1NM_ 000284.3(PDHA1): c.863G> A (p.Arg288His)SNVPathogenicrs137853258GRCh37Chr X, 19375801: 19375801
20PDHA1NM_ 000284.3(PDHA1): c.*79_ *90dupAGTCAATGAAATduplicationPathogenicrs606231192GRCh38Chr X, 19359732: 19359743
21PDHA1NM_ 000284.3(PDHA1): c.648A> C (p.Leu216Phe)SNVPathogenicrs121917898GRCh37Chr X, 19373511: 19373511
22PDHA1NM_ 000284.3(PDHA1): c.422G> A (p.Arg141Gln)SNVPathogenicrs794729213GRCh37Chr X, 19371203: 19371203
23PDHA1NM_ 000284.3(PDHA1): c.640T> C (p.Trp214Arg)SNVLikely pathogenicrs886042089GRCh37Chr X, 19373503: 19373503
24PDHA1NM_ 000284.3(PDHA1): c.292-23A> GSNVPathogenicrs1057518702GRCh37Chr X, 19369376: 19369376

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 16)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.4ECHS1, PC
29.3ECHS1, HIBCH
3
Show member pathways
9.3ECHS1, HIBCH
4
Show member pathways
9.3ECHS1, HIBCH
59.2PDHA1, PDHB
69.2PDHA1, PDHB
79.2PDHA1, PDHB
8
Show member pathways
8.8PDHA1, PDHB, PDHX
9
Show member pathways
8.8PDHA1, PDHB, PDHX
10
Show member pathways
8.8PDHA1, PDHB, PDHX
11
Show member pathways
8.7PC, PDHA1, PDHB
12
Show member pathways
8.7PC, PDHA1, PDHB
138.5HIBCH, PC, PDHA1, PDHX
14
Show member pathways
8.3PC, PDHA1, PDHB, PDHX
15
Show member pathways
7.6ECHS1, HIBCH, PC, PDHA1, PDHB
16
Show member pathways
7.1ECHS1, HIBCH, PC, PDHA1, PDHB, PDHX

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:00452548.8PDHA1, PDHB, PDHX
2mitochondrial matrixGO:00057597.8ECHS1, HIBCH, PC, PDHA1, PDHB, PDHX
3mitochondrionGO:00057397.3ECHS1, HIBCH, PC, PDHA1, PDHB, PDHX

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1acetyl-CoA biosynthetic process from pyruvateGO:00060869.9PDHA1, PDHB
2glucose metabolic processGO:00060069.9PDHA1, PDHB
3cellular nitrogen compound metabolic processGO:00346419.5PDHA1, PDHB, PDHX
4glyoxylate metabolic processGO:00464879.5PDHA1, PDHB, PDHX
5mitochondrial acetyl-CoA biosynthetic process from pyruvateGO:00617329.3PDHA1, PDHB, PDHX
6tricarboxylic acid cycleGO:00060999.2PDHA1, PDHB
7regulation of acetyl-CoA biosynthetic process from pyruvateGO:00105109.2PDHA1, PDHB, PDHX
8pyruvate metabolic processGO:00060908.7PC, PDHA1, PDHB, PDHX
9metabolic processGO:00081528.2ECHS1, PC, PDHA1, PDHB, PDHX

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

idNameGO IDScoreTop Affiliating Genes
1pyruvate dehydrogenase (acetyl-transferring) activityGO:00047399.4PDHA1, PDHB
2pyruvate dehydrogenase activityGO:00047389.2PDHA1, PDHB
3pyruvate dehydrogenase (NAD+) activityGO:00346048.7PDHA1, PDHB, PDHX

Sources for Pyruvate Dehydrogenase E1-Alpha Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet