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

Aliases & Descriptions for Pyruvate Dehydrogenase E1-Alpha Deficiency:

Name: Pyruvate Dehydrogenase E1-Alpha Deficiency 54 24 56 66 29 13
Pyruvate Dehydrogenase Complex Deficiency 50 24 25 56 29
Pyruvate Decarboxylase Deficiency 12 50 56 66 14
Pyruvate Dehydrogenase Deficiency 12 50 25 56 66
Pyruvate Dehydrogenase Complex Deficiency Disease 12 42 69
Pdh Deficiency 24 25 66
Pdhc Deficiency 24 25
Pdhad 56 66
Pdhc 50 56
Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency 50
Ataxia Intermittent with Pyruvate Dehydrogenase or Decarboxylase Deficiency 66
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency 56
Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency 25
Ataxia Intermittent with Abnormal Pyruvate Metabolism 66
Pyruvate Dehydrogenase E1 Alpha Deficiency 69
Pyruvate Dehydrogenase E1 a Deficiency 24
Deficiency of Pyruvic Dehydrogenase 12
Ataxia with Lactic Acidosis 1 50
Ataxia with Lactic Acidosis I 66
Ataxia with Lactic Acidosis 25
Pdh 56

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

32
pyruvate dehydrogenase e1-alpha deficiency:
Onset and clinical course phenotypic variability infantile onset
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 312170
Disease Ontology 12 DOID:3649
ICD10 33 E74.4 R27.0
MeSH 42 D015325
NCIt 47 C103968
MESH via Orphanet 43 C536257 D015325
UMLS via Orphanet 70 C0034345 C2936911
ICD10 via Orphanet 34 E74.4
UMLS 69 C0034345

Summaries for Pyruvate Dehydrogenase E1-Alpha Deficiency

NIH Rare Diseases : 50 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 ataxia, dyspnea and seizures. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (Pyruvate Dehydrogenase (Lipoamide) Alpha 1), and among its related pathways/superpathways are Metabolism and Glucose metabolism. The drugs Pyruvate and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and cortex, and related phenotype is Decreased shRNA abundance (Z-score < -2).

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

UniProtKB/Swiss-Prot : 66 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

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

(show all 11)
id Related Disease Score Top Affiliating Genes
1 pyruvate carboxylase deficiency 11.4
2 pyruvate dehydrogenase e1-beta deficiency 11.1
3 pyruvate dehydrogenase e2 deficiency 11.0
4 lactic acidosis 10.1
5 mucinous intrahepatic cholangiocarcinoma 10.0 HIBCH PDHA1
6 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 9.9 ECHS1 PDHA1
7 hyperammonemia 9.8
8 ataxia 9.8
9 mast cell neoplasm 9.8 PC PDHA1 PDHX
10 bjornstad syndrome 9.5 ECHS1 PDHA1 PDHB PDHX
11 glycogen storage disease, type ixa1 9.1 ECHS1 HIBCH PC PDHA1 PDHB PDHX

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



Diseases related to Pyruvate Dehydrogenase E1-Alpha Deficiency

Symptoms & Phenotypes for Pyruvate Dehydrogenase E1-Alpha Deficiency

Symptoms by clinical synopsis from OMIM:

312170

Clinical features from OMIM:

312170

Human phenotypes related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

56 32 (show top 50) (show all 51)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 dyspnea 56 32 Occasional (29-5%) HP:0002094
3 seizures 56 32 Frequent (79-30%) HP:0001250
4 tremor 56 32 Frequent (79-30%) HP:0001337
5 lethargy 56 32 Very frequent (99-80%) HP:0001254
6 dystonia 56 32 Occasional (29-5%) HP:0001332
7 abnormal pyramidal signs 56 32 Frequent (79-30%) HP:0007256
8 hypertelorism 56 32 Occasional (29-5%) HP:0000316
9 pectus excavatum 56 32 Occasional (29-5%) HP:0000767
10 frontal bossing 56 32 Occasional (29-5%) HP:0002007
11 high palate 56 32 Occasional (29-5%) HP:0000218
12 abnormality of eye movement 56 32 Frequent (79-30%) HP:0000496
13 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
14 spasticity 56 32 Frequent (79-30%) HP:0001257
15 dysarthria 56 32 Frequent (79-30%) HP:0001260
16 gait disturbance 56 32 Frequent (79-30%) HP:0001288
17 global developmental delay 56 32 Frequent (79-30%) HP:0001263
18 wide nasal bridge 56 32 Occasional (29-5%) HP:0000431
19 abnormal facial shape 56 32 Very frequent (99-80%) HP:0001999
20 microcephaly 56 32 Frequent (79-30%) HP:0000252
21 feeding difficulties in infancy 56 32 Very frequent (99-80%) HP:0008872
22 long philtrum 56 32 Occasional (29-5%) HP:0000343
23 epicanthus 56 32 Occasional (29-5%) HP:0000286
24 multiple lipomas 56 32 Occasional (29-5%) HP:0001012
25 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
26 intrauterine growth retardation 56 32 Frequent (79-30%) HP:0001511
27 narrow face 56 32 Occasional (29-5%) HP:0000275
28 upslanted palpebral fissure 56 32 Occasional (29-5%) HP:0000582
29 cerebral palsy 56 32 Occasional (29-5%) HP:0100021
30 aplasia/hypoplasia of the corpus callosum 56 32 Frequent (79-30%) HP:0007370
31 trigonocephaly 56 32 Occasional (29-5%) HP:0000243
32 choreoathetosis 56 32 Frequent (79-30%) HP:0001266
33 tachypnea 56 32 Frequent (79-30%) HP:0002789
34 osteolytic defects of the middle phalanx of the 4th toe 56 32 Frequent (79-30%) HP:0100453
35 agenesis of corpus callosum 32 HP:0001274
36 ptosis 32 HP:0000508
37 intellectual disability 32 HP:0001249
38 anteverted nares 32 HP:0000463
39 growth delay 56 Very frequent (99-80%)
40 increased serum lactate 32 HP:0002151
41 cerebral atrophy 32 HP:0002059
42 small for gestational age 32 HP:0001518
43 hyperalaninemia 32 HP:0003348
44 episodic ataxia 32 HP:0002131
45 increased csf lactate 32 HP:0002490
46 flared nostrils 32 HP:0000454
47 decreased activity of the pyruvate dehydrogenase complex 32 HP:0002928
48 apneic episodes precipitated by illness, fatigue, stress 32 HP:0002872
49 severe lactic acidosis 32 HP:0004900
50 chronic lactic acidosis 32 HP:0004925

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

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pyruvate Approved, Nutraceutical Phase 3
2 Pharmaceutical Solutions Phase 1
3
Thiamine Approved, Nutraceutical, Vet_approved 59-43-8 1130
4 Vitamins
5 ACIPIMOX
6 Hypolipidemic Agents
7 Lipid Regulating Agents
8 Antimetabolites
9 Thiamin Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency: Not yet recruiting NCT02616484 Phase 3
2 A Pilot Study of Rapid Haplotyping Procedure for Personalized Dosing of Dichloroacetate (DCA) in Healthy Volunteers Active, not recruiting NCT02690285 Phase 1
3 From Uncomplicated Alcoholism to Korsakoff's Syndrome Unknown status NCT01455207
4 Natural History and Advanced Genetic Study of Pyruvate Dehydrogenase Complex Deficiencies Recruiting NCT03056794
5 Lipolytic Effects of GH in Hypopituitary Patients in Vivo Recruiting NCT02782208
6 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304

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:

id Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E1-Alpha Deficiency 29 24 PDHA1
2 Pyruvate Dehydrogenase Complex Deficiency 29 24

Anatomical Context for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

39
Eye, Brain, Cortex

Publications for Pyruvate Dehydrogenase E1-Alpha Deficiency

Variations for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

66 (show all 20)
id Symbol AA change Variation ID SNP ID
1 PDHA1 p.Arg72Cys VAR_004949 rs863224148
2 PDHA1 p.His113Asp VAR_004950
3 PDHA1 p.Gly162Arg VAR_004951 rs866868610
4 PDHA1 p.Val167Met VAR_004952
5 PDHA1 p.Ala199Thr VAR_004953
6 PDHA1 p.Phe205Leu VAR_004954 rs137853254
7 PDHA1 p.Met210Val VAR_004955 rs794727843
8 PDHA1 p.Pro217Leu VAR_004956
9 PDHA1 p.Thr231Ala VAR_004957
10 PDHA1 p.Asp258Ala VAR_004958 rs137853253
11 PDHA1 p.Arg263Gly VAR_004959 rs28936081
12 PDHA1 p.Arg263Gln VAR_004960
13 PDHA1 p.His292Leu VAR_004961
14 PDHA1 p.Arg302Cys VAR_004962 rs137853252
15 PDHA1 p.Arg302His VAR_004963
16 PDHA1 p.Arg378His VAR_004966 rs137853250
17 PDHA1 p.Arg10Pro VAR_010238 rs137853257
18 PDHA1 p.Tyr243Asn VAR_021053 rs137853255
19 PDHA1 p.Arg288His VAR_021055 rs137853258
20 PDHA1 p.Asp315Asn VAR_021056 rs28935187

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

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 PDHA1 NM_000284.3(PDHA1): c.1167_1170delCAGT (p.Ser390Lysfs) deletion Pathogenic rs606231184 GRCh38 Chromosome X, 19359647: 19359650
2 PDHA1 NM_000284.3(PDHA1): c.934_940delAGTAAGA (p.Ser312Valfs) deletion Pathogenic rs606231185 GRCh38 Chromosome X, 19358950: 19358956
3 PDHA1 NM_000284.3(PDHA1): c.1133G> A (p.Arg378His) single nucleotide variant Pathogenic rs137853250 GRCh37 Chromosome X, 19377731: 19377731
4 PDHA1 NM_000284.3(PDHA1): c.937_939delAAG (p.Lys313del) deletion Pathogenic rs137853251 GRCh37 Chromosome X, 19377071: 19377073
5 PDHA1 NM_000284.3(PDHA1): c.1159_1160delAA (p.Lys387Valfs) deletion Pathogenic rs606231186 GRCh38 Chromosome X, 19359639: 19359640
6 PDHA1 NM_000284.3(PDHA1): c.1073_1092del20 (p.Glu358Glyfs) deletion Pathogenic rs606231187 GRCh38 Chromosome X, 19359553: 19359572
7 PDHA1 NM_000284.3(PDHA1) duplication Pathogenic rs606231188 GRCh38 Chromosome X, 19358913: 19358933
8 PDHA1 NM_000284.3(PDHA1): c.787C> G (p.Arg263Gly) single nucleotide variant Pathogenic rs137853259 GRCh37 Chromosome X, 19373831: 19373831
9 PDHA1 NM_000284.3(PDHA1): c.904C> T (p.Arg302Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853252 GRCh37 Chromosome X, 19377038: 19377038
10 PDHA1 NM_000284.3(PDHA1): c.1142_1145dupATCA (p.Trp383Serfs) duplication Pathogenic rs606231189 GRCh38 Chromosome X, 19359622: 19359625
11 PDHA1 NM_000284.3(PDHA1): c.773A> C (p.Asp258Ala) single nucleotide variant Pathogenic rs137853253 GRCh37 Chromosome X, 19373817: 19373817
12 PDHA1 NM_000284.3(PDHA1): c.615C> G (p.Phe205Leu) single nucleotide variant Pathogenic rs137853254 GRCh37 Chromosome X, 19373478: 19373478
13 PDHA1 NM_000284.3(PDHA1): c.727T> A (p.Tyr243Asn) single nucleotide variant Pathogenic rs137853255 GRCh37 Chromosome X, 19373590: 19373590
14 PDHA1 NM_000284.3(PDHA1): c.943G> A (p.Asp315Asn) single nucleotide variant Pathogenic rs137853256 GRCh37 Chromosome X, 19377077: 19377077
15 PDHA1 NM_000284.3(PDHA1): c.861_862insT (p.Arg288Serfs) insertion Pathogenic rs606231190 GRCh38 Chromosome X, 19357681: 19357682
16 PDHA1 NM_000284.3(PDHA1): c.29G> C (p.Arg10Pro) single nucleotide variant Pathogenic rs137853257 GRCh37 Chromosome X, 19362184: 19362184
17 PDHA1 PDHA1, 13-BP INS, EX10 insertion Pathogenic
18 PDHA1 NM_000284.3(PDHA1) duplication Pathogenic rs606231191 GRCh38 Chromosome X, 19359554: 19359589
19 PDHA1 NM_000284.3(PDHA1): c.863G> A (p.Arg288His) single nucleotide variant Pathogenic rs137853258 GRCh37 Chromosome X, 19375801: 19375801
20 PDHA1 NM_000284.3(PDHA1): c.*79_*90dupAGTCAATGAAAT duplication Pathogenic rs606231192 GRCh38 Chromosome X, 19359732: 19359743
21 PDHA1 NM_000284.3(PDHA1): c.648A> C (p.Leu216Phe) single nucleotide variant Pathogenic rs121917898 GRCh37 Chromosome X, 19373511: 19373511
22 PDHA1 NM_000284.3(PDHA1): c.422G> A (p.Arg141Gln) single nucleotide variant Pathogenic rs794729213 GRCh37 Chromosome X, 19371203: 19371203
23 PDHA1 NM_000284.3(PDHA1): c.640T> C (p.Trp214Arg) single nucleotide variant Likely pathogenic rs886042089 GRCh37 Chromosome X, 19373503: 19373503
24 PDHA1 NM_000284.3(PDHA1): c.292-23A> G single nucleotide variant Pathogenic rs1057518702 GRCh37 Chromosome X, 19369376: 19369376

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 GeneCards Suite gene sharing:

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 ECHS1 HIBCH PC PDHA1 PDHB PDHX
2
Show member pathways
12.25 PC PDHA1 PDHB PDHX
3
Show member pathways
11.73 PDHA1 PDHB PDHX
4
Show member pathways
11.63 ECHS1 HIBCH
5
Show member pathways
11.59 PC PDHA1 PDHB
6 11.56 PDHA1 PDHB
7 11.53 PDHA1 PDHB
8 11.34 PDHA1 PDHB
9
Show member pathways
11.34 ECHS1 HIBCH PC PDHA1 PDHB
10
Show member pathways
11.32 PDHA1 PDHB PDHX
11 11.22 HIBCH PC PDHA1 PDHX
12
Show member pathways
11.06 PC PDHA1 PDHB
13
Show member pathways
11.03 ECHS1 HIBCH
14 10.98 ECHS1 HIBCH
15
Show member pathways
10.94 PDHA1 PDHB PDHX
16 10.8 ECHS1 PC

GO Terms for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.63 ECHS1 HIBCH PC PDHA1 PDHB PDHX
2 pyruvate dehydrogenase complex GO:0045254 9.13 PDHA1 PDHB PDHX
3 mitochondrial matrix GO:0005759 9.1 ECHS1 HIBCH PC PDHA1 PDHB PDHX

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

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.72 ECHS1 PC PDHA1 PDHB PDHX
2 glyoxylate metabolic process GO:0046487 9.54 PDHA1 PDHB PDHX
3 glucose metabolic process GO:0006006 9.46 PDHA1 PDHB
4 tricarboxylic acid cycle GO:0006099 9.43 PDHA1 PDHB
5 cellular nitrogen compound metabolic process GO:0034641 9.43 PDHA1 PDHB PDHX
6 acetyl-CoA biosynthetic process from pyruvate GO:0006086 9.4 PDHA1 PDHB
7 regulation of acetyl-CoA biosynthetic process from pyruvate GO:0010510 9.33 PDHA1 PDHB PDHX
8 mitochondrial acetyl-CoA biosynthetic process from pyruvate GO:0061732 9.13 PDHA1 PDHB PDHX
9 pyruvate metabolic process GO:0006090 8.92 PC PDHA1 PDHB PDHX

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

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

Sources for Pyruvate Dehydrogenase E1-Alpha Deficiency

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