PDHBD
MCID: PYR012
MIFTS: 40

Pyruvate Dehydrogenase E1-Beta Deficiency (PDHBD)

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

Aliases & Classifications for Pyruvate Dehydrogenase E1-Beta Deficiency

MalaCards integrated aliases for Pyruvate Dehydrogenase E1-Beta Deficiency:

Name: Pyruvate Dehydrogenase E1-Beta Deficiency 57 58 72 36 29 13 6 39 70
Pdhbd 57 58 72
Pyruvate Dehydrogenase Complex E1 Component Subunit Beta Deficiency 58
Pyruvate Dehydrogenase Complex Deficiency Disease 70
Pyruvate Dehydrogenase Deficiency 72
Pdh Deficiency 72

Characteristics:

Orphanet epidemiological data:

58
pyruvate dehydrogenase e1-beta deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
pyruvate dehydrogenase e1-beta deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Pyruvate Dehydrogenase E1-Beta Deficiency

UniProtKB/Swiss-Prot : 72 Pyruvate dehydrogenase E1-beta 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.

MalaCards based summary : Pyruvate Dehydrogenase E1-Beta Deficiency, also known as pdhbd, is related to pyruvate dehydrogenase e1-alpha deficiency and pyruvate dehydrogenase e3-binding protein deficiency. An important gene associated with Pyruvate Dehydrogenase E1-Beta Deficiency is PDHB (Pyruvate Dehydrogenase E1 Subunit Beta), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Pyruvate metabolism. The drugs Strawberry and pyruvate have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and skeletal muscle, and related phenotypes are agenesis of corpus callosum and abnormal facial shape

KEGG : 36 Defects in the pyruvate dehydrogenase (PDH) complex are an important cause of primary lactic acidosis. Recently, patients with PDH deficiency attributable to mutations in PDHB (E1 beta subunit) has been reported. Primary defects in the E1 beta subunit of the PDH complex appear to be extremely rare.

More information from OMIM: 614111 PS312170

Related Diseases for Pyruvate Dehydrogenase E1-Beta Deficiency

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 pyruvate dehydrogenase e1-alpha deficiency 11.6
2 pyruvate dehydrogenase e3-binding protein deficiency 11.2
3 pyruvate dehydrogenase e2 deficiency 11.2
4 alpha-ketoglutarate dehydrogenase deficiency 11.2
5 mitochondrial complex iv deficiency, nuclear type 5 11.2
6 pyruvate dehydrogenase phosphatase deficiency 11.1
7 hypotonia 10.4
8 dystonia 10.4
9 ataxia and polyneuropathy, adult-onset 10.3
10 leigh syndrome 10.3
11 microcephaly 10.3
12 neuropathy 10.2
13 metabolic acidosis 10.2
14 myopathy 10.2
15 hyper-beta-alaninemia 10.1
16 kearns-sayre syndrome 10.1
17 alacrima, achalasia, and mental retardation syndrome 10.1
18 alcohol-related neurodevelopmental disorder 10.1
19 periventricular leukomalacia 10.1
20 optic nerve disease 10.1
21 movement disease 10.1
22 peripheral nervous system disease 10.1
23 down syndrome 9.9
24 alexander disease 9.9
25 corpus callosum, agenesis of 9.9
26 friedreich ataxia 9.9
27 ocular motor apraxia 9.9
28 3-methylglutaconic aciduria, type iii 9.9
29 canavan disease 9.9
30 diabetes mellitus, ketosis-prone 9.9
31 carbonic anhydrase va deficiency, hyperammonemia due to 9.9
32 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
33 west syndrome 9.9
34 parkinsonism 9.9
35 spastic quadriplegia 9.9
36 quadriplegia 9.9
37 guillain-barre syndrome 9.9
38 epilepsy 9.9
39 cerebral palsy 9.9
40 inherited metabolic disorder 9.9
41 mitochondrial myopathy 9.9
42 chronic fatigue syndrome 9.9
43 primary cerebellar degeneration 9.9
44 episodic ataxia 9.9
45 mitochondrial dna-associated leigh syndrome and narp 9.9
46 mitochondrial disorders 9.9
47 nuclear gene-encoded leigh syndrome spectrum 9.9
48 polymicrogyria 9.9
49 pachygyria 9.9
50 cerebral atrophy 9.9

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



Diseases related to Pyruvate Dehydrogenase E1-Beta Deficiency

Symptoms & Phenotypes for Pyruvate Dehydrogenase E1-Beta Deficiency

Human phenotypes related to Pyruvate Dehydrogenase E1-Beta Deficiency:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 31 very rare (1%) Frequent (79-30%) HP:0001274
2 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
3 neurodevelopmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0012758
4 decreased body weight 58 31 frequent (33%) Frequent (79-30%) HP:0004325
5 abnormality of calvarial morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002648
6 lactic acidosis 58 31 very rare (1%) Frequent (79-30%) HP:0003128
7 decreased activity of the pyruvate dehydrogenase complex 58 31 frequent (33%) Frequent (79-30%) HP:0002928
8 hypotonia 31 frequent (33%) HP:0001252
9 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
10 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
11 reduced tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001315
12 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
13 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
14 pachygyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001302
15 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
16 corticospinal tract hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007016
17 periventricular leukomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006970
18 short corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0200012
19 periventricular heterotopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007165
20 hypoplasia of the brainstem 58 31 occasional (7.5%) Occasional (29-5%) HP:0002365
21 impaired smooth pursuit 58 31 occasional (7.5%) Occasional (29-5%) HP:0007772
22 periventricular cysts 58 31 occasional (7.5%) Occasional (29-5%) HP:0007109
23 seizure 31 occasional (7.5%) HP:0001250
24 hyporeflexia 31 very rare (1%) HP:0001265
25 generalized hypotonia 31 very rare (1%) HP:0001290
26 seizures 58 Occasional (29-5%)
27 muscular hypotonia 58 Frequent (79-30%)
28 global developmental delay 31 HP:0001263
29 hyperammonemia 31 HP:0001987

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
seizures
ataxia
encephalopathy
psychomotor retardation
more
Respiratory:
respiratory failure

Laboratory Abnormalities:
increased blood lactic acid
increased urinary lactate
increased plasma alanine

Head And Neck Eyes:
ptosis
strabismus
abnormal eye movements

Metabolic Features:
lactic acidosis
normal lactate/pyruvate ratio

Clinical features from OMIM®:

614111 (Updated 20-May-2021)

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Beta Deficiency

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


# 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

Interventional clinical trials:


# 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 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
4 Long-term Treatment With the Ketogenic Diet in Epilepsy and Epilepsy-related Rare Diseases Enrolling by invitation NCT04646850

Search NIH Clinical Center for Pyruvate Dehydrogenase E1-Beta Deficiency

Genetic Tests for Pyruvate Dehydrogenase E1-Beta Deficiency

Genetic tests related to Pyruvate Dehydrogenase E1-Beta Deficiency:

# Genetic test Affiliating Genes
1 Pyruvate Dehydrogenase E1-Beta Deficiency 29 PDHB

Anatomical Context for Pyruvate Dehydrogenase E1-Beta Deficiency

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

40
Eye, Brain, Skeletal Muscle, Skin

Publications for Pyruvate Dehydrogenase E1-Beta Deficiency

Articles related to Pyruvate Dehydrogenase E1-Beta Deficiency:

(show top 50) (show all 191)
# Title Authors PMID Year
1
Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency. 6 57 61
26865159 2016
2
Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. 61 57 6
18164639 2008
3
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. 6 57 61
15138885 2004
4
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome. 57 6
19924563 2009
5
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content. 6
26014431 2016
6
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. 6
25356417 2014
7
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. 6
21914562 2011
8
Potential role of stress-induced gluconeogenesis in disease aggravation and mortality in pyruvate dehydrogenase deficiency: A case-based hypothesis. 61
33303308 2021
9
Clinical Therapeutic Management of Human Mitochondrial Disorders. 61
33053453 2020
10
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa. 61
32742935 2020
11
Vitamin-Responsive Movement Disorders in Children. 61
32606520 2020
12
Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions. 61
31542992 2020
13
Considerations on the management of pyruvate dehydrogenase deficiency. 61
32329035 2020
14
Pyruvate dehydrogenase deficiency: morphological and metabolic effects, creation of animal model to search for curative treatment. 61
32073132 2020
15
Ketogenic Diet: A New Light Shining on Old but Gold Biochemistry. 61
31627352 2019
16
Pyruvate dehydrogenase deficiency. 61
31642628 2019
17
The Importance of Gender-Related Anticancer Research on Mitochondrial Regulator Sodium Dichloroacetate in Preclinical Studies In Vivo. 61
31434295 2019
18
Food and Food Products on the Italian Market for Ketogenic Dietary Treatment of Neurological Diseases. 61
31108981 2019
19
Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency. 61
30787166 2019
20
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy. 61
30304514 2019
21
Current Perspectives On The Role Of The Ketogenic Diet In Epilepsy Management. 61
31819454 2019
22
Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing. 61
29756269 2019
23
Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex. 61
29445841 2018
24
Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency. 61
29752808 2018
25
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. 61
29681092 2018
26
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency. 61
28510035 2018
27
Tenuous link between chronic fatigue syndrome and pyruvate dehydrogenase deficiency. 61
29231630 2017
28
Severe Brain Malformations in an Infant With Pyruvate Dehydrogenase Deficiency and Down Syndrome. 61
28784285 2017
29
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence. 61
28495245 2017
30
Ultrastructural examination of skin biopsies may assist in diagnosing mitochondrial cytopathy when muscle biopsies yield negative results. 61
28807341 2017
31
Renal manifestations of primary mitochondrial disorders. 61
28515908 2017
32
Ketogenic diet and childhood neurological disorders other than epilepsy: an overview. 61
27841033 2017
33
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival. 61
28584645 2017
34
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder. 61
27106218 2016
35
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency. 61
27306203 2016
36
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review. 61
26008863 2015
37
Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics. 61
26122601 2015
38
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening. 61
26163321 2015
39
Clinical and biochemical characterization of four patients with mutations in ECHS1. 61
26081110 2015
40
Mitochondria: The ketogenic diet--A metabolism-based therapy. 61
25666556 2015
41
Defects of thiamine transport and metabolism. 61
24789339 2014
42
Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency. 61
24462778 2014
43
Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography. 61
24592343 2014
44
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. 61
24299452 2013
45
Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites. 61
23920046 2013
46
[Inborn errors of metabolism in adult neurology]. 61
23452774 2013
47
Ataxia. 61
23622331 2013
48
Respiratory chain deficiencies. 61
23622386 2013
49
Metabolic neuropathies and myopathies. 61
23622366 2013
50
Ketogenic diet: an early option for epilepsy treatment, instead of a last choice only. 61
23515149 2013

Variations for Pyruvate Dehydrogenase E1-Beta Deficiency

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

6 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PDHB NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys) SNV Pathogenic 13188 rs28935769 GRCh37: 3:58416578-58416578
GRCh38: 3:58430851-58430851
2 PDHB NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser) SNV Pathogenic 13189 rs28933391 GRCh37: 3:58413811-58413811
GRCh38: 3:58428084-58428084
3 PDHB NM_000925.4(PDHB):c.106C>T (p.Arg36Cys) SNV Pathogenic 978588 GRCh37: 3:58417702-58417702
GRCh38: 3:58431975-58431975
4 PDHB NM_000925.4(PDHB):c.916T>C (p.Cys306Arg) SNV Pathogenic 978589 GRCh37: 3:58414218-58414218
GRCh38: 3:58428491-58428491
5 PDHB NM_000925.4(PDHB):c.956A>T (p.Asp319Val) SNV Pathogenic 978590 GRCh37: 3:58413885-58413885
GRCh38: 3:58428158-58428158
6 PDHB NM_000925.4(PDHB):c.426A>G (p.Ile142Met) SNV Pathogenic 978591 GRCh37: 3:58416547-58416547
GRCh38: 3:58430820-58430820
7 PDHB NM_000925.4(PDHB):c.494G>C (p.Trp165Ser) SNV Pathogenic 978592 GRCh37: 3:58416479-58416479
GRCh38: 3:58430752-58430752
8 PDHB NM_000925.4(PDHB):c.302T>C (p.Met101Thr) SNV Pathogenic 978593 GRCh37: 3:58417321-58417321
GRCh38: 3:58431594-58431594
9 PDHB NM_000925.4(PDHB):c.314G>A (p.Arg105Gln) SNV Pathogenic 978595 GRCh37: 3:58416659-58416659
GRCh38: 3:58430932-58430932
10 PDHB NM_000925.4(PDHB):c.310T>G (p.Leu104Val) SNV Pathogenic 978596 GRCh37: 3:58416663-58416663
GRCh38: 3:58430936-58430936
11 PDHB NM_000925.4(PDHB):c.301A>G (p.Met101Val) SNV Pathogenic 839569 GRCh37: 3:58417322-58417322
GRCh38: 3:58431595-58431595
12 PDHB NM_000925.4(PDHB):c.-12G>A SNV Uncertain significance 903643 GRCh37: 3:58419548-58419548
GRCh38: 3:58433821-58433821
13 PDHB NC_000003.12:g.58433858A>G SNV Uncertain significance 668481 rs373907802 GRCh37: 3:58419585-58419585
GRCh38: 3:58433858-58433858
14 PDHB NM_000925.4(PDHB):c.775G>A (p.Glu259Lys) SNV Uncertain significance 936606 GRCh37: 3:58415452-58415452
GRCh38: 3:58429725-58429725
15 PDHB NM_000925.4(PDHB):c.782T>C (p.Val261Ala) SNV Uncertain significance 947661 GRCh37: 3:58415445-58415445
GRCh38: 3:58429718-58429718
16 PDHB NM_000925.4(PDHB):c.1029A>G (p.Ile343Met) SNV Uncertain significance 970499 GRCh37: 3:58413812-58413812
GRCh38: 3:58428085-58428085
17 PDHB NM_000925.4(PDHB):c.38G>A (p.Arg13Gln) SNV Uncertain significance 1036385 GRCh37: 3:58419499-58419499
GRCh38: 3:58433772-58433772
18 PDHB NM_000925.4(PDHB):c.292G>A (p.Gly98Ser) SNV Uncertain significance 1037191 GRCh37: 3:58417331-58417331
GRCh38: 3:58431604-58431604
19 PDHB NM_000925.4(PDHB):c.1057A>G (p.Ile353Val) SNV Uncertain significance 1038845 GRCh37: 3:58413784-58413784
GRCh38: 3:58428057-58428057
20 PDHB NM_000925.4(PDHB):c.11T>C (p.Val4Ala) SNV Uncertain significance 346412 rs751921912 GRCh37: 3:58419526-58419526
GRCh38: 3:58433799-58433799
21 PDHB NM_000925.4(PDHB):c.249T>C (p.Ile83=) SNV Uncertain significance 346410 rs886058779 GRCh37: 3:58417476-58417476
GRCh38: 3:58431749-58431749
22 PDHB NM_000925.4(PDHB):c.641C>T (p.Pro214Leu) SNV Uncertain significance 346407 rs752056463 GRCh37: 3:58415914-58415914
GRCh38: 3:58430187-58430187
23 PDHB NM_000925.4(PDHB):c.93G>T (p.Leu31=) SNV Uncertain significance 346411 rs886058780 GRCh37: 3:58419361-58419361
GRCh38: 3:58433634-58433634
24 PDHB NM_000925.4(PDHB):c.*360A>G SNV Uncertain significance 346396 rs886058776 GRCh37: 3:58413401-58413401
GRCh38: 3:58427674-58427674
25 PDHB NM_000925.4(PDHB):c.640C>T (p.Pro214Ser) SNV Uncertain significance 346408 rs886058778 GRCh37: 3:58415915-58415915
GRCh38: 3:58430188-58430188
26 PDHB NM_000925.4(PDHB):c.710T>A (p.Ile237Lys) SNV Uncertain significance 346405 rs779577082 GRCh37: 3:58415517-58415517
GRCh38: 3:58429790-58429790
27 PDHB NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) SNV Uncertain significance 346409 rs139242990 GRCh37: 3:58416525-58416525
GRCh38: 3:58430798-58430798
28 PDHB NM_000925.4(PDHB):c.701-3C>T SNV Uncertain significance 346406 rs377063331 GRCh37: 3:58415529-58415529
GRCh38: 3:58429802-58429802
29 PDHB NM_000925.4(PDHB):c.962C>T (p.Pro321Leu) SNV Uncertain significance 638449 rs1576955015 GRCh37: 3:58413879-58413879
GRCh38: 3:58428152-58428152
30 PDHB NC_000003.12:g.(?_58428014)_(58431813_?)del Deletion Uncertain significance 653525 GRCh37: 3:58413741-58417540
GRCh38: 3:58428014-58431813
31 PDHB NM_000925.4(PDHB):c.*173C>T SNV Uncertain significance 899975 GRCh37: 3:58413588-58413588
GRCh38: 3:58427861-58427861
32 PDHB NM_000925.4(PDHB):c.*160A>G SNV Uncertain significance 899976 GRCh37: 3:58413601-58413601
GRCh38: 3:58427874-58427874
33 PDHB NM_000925.4(PDHB):c.*77C>T SNV Uncertain significance 899977 GRCh37: 3:58413684-58413684
GRCh38: 3:58427957-58427957
34 PDHB NM_000925.4(PDHB):c.1069T>C (p.Leu357=) SNV Uncertain significance 899978 GRCh37: 3:58413772-58413772
GRCh38: 3:58428045-58428045
35 PDHB NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) SNV Uncertain significance 214952 rs201105914 GRCh37: 3:58413904-58413904
GRCh38: 3:58428177-58428177
36 PDHB NM_000925.4(PDHB):c.212G>A (p.Arg71Gln) SNV Uncertain significance 901692 GRCh37: 3:58417513-58417513
GRCh38: 3:58431786-58431786
37 PDHB NM_000925.4(PDHB):c.96+12G>A SNV Uncertain significance 901693 GRCh37: 3:58419346-58419346
GRCh38: 3:58433619-58433619
38 PDHB NM_000925.4(PDHB):c.45C>G (p.Val15=) SNV Uncertain significance 901694 GRCh37: 3:58419409-58419409
GRCh38: 3:58433682-58433682
39 PDHB NM_000925.4(PDHB):c.*365T>A SNV Uncertain significance 902608 GRCh37: 3:58413396-58413396
GRCh38: 3:58427669-58427669
40 PDHB NM_000925.4(PDHB):c.*328A>G SNV Uncertain significance 903458 GRCh37: 3:58413433-58413433
GRCh38: 3:58427706-58427706
41 PDHB NM_000925.4(PDHB):c.*201T>C SNV Likely benign 903459 GRCh37: 3:58413560-58413560
GRCh38: 3:58427833-58427833
42 PDHB NM_000925.4(PDHB):c.417T>C (p.Pro139=) SNV Likely benign 721851 rs762644804 GRCh37: 3:58416556-58416556
GRCh38: 3:58430829-58430829
43 PDHB NM_000925.4(PDHB):c.501G>T (p.Gly167=) SNV Likely benign 722700 rs759053641 GRCh37: 3:58416472-58416472
GRCh38: 3:58430745-58430745
44 PDHB NM_000925.4(PDHB):c.564A>G (p.Lys188=) SNV Likely benign 513596 rs146996786 GRCh37: 3:58416409-58416409
GRCh38: 3:58430682-58430682
45 PDHB NM_000925.4(PDHB):c.97-5G>A SNV Likely benign 729967 rs200429396 GRCh37: 3:58417716-58417716
GRCh38: 3:58431989-58431989
46 PDHB NM_000925.4(PDHB):c.8C>T (p.Ala3Val) SNV Likely benign 214950 rs536872599 GRCh37: 3:58419529-58419529
GRCh38: 3:58433802-58433802
47 PDHB NM_000925.4(PDHB):c.150T>C (p.Asp50=) SNV Likely benign 785951 rs367846961 GRCh37: 3:58417658-58417658
GRCh38: 3:58431931-58431931
48 PDHB NM_000925.4(PDHB):c.498T>C (p.Tyr166=) SNV Likely benign 800099 rs757249455 GRCh37: 3:58416475-58416475
GRCh38: 3:58430748-58430748
49 PDHB NM_000925.4(PDHB):c.132T>C (p.Asp44=) SNV Benign/Likely benign 138648 rs11542399 GRCh37: 3:58417676-58417676
GRCh38: 3:58431949-58431949
50 PDHB NM_000925.4(PDHB):c.198A>G (p.Ala66=) SNV Benign/Likely benign 138649 rs138621975 GRCh37: 3:58417610-58417610
GRCh38: 3:58431883-58431883

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

72
# Symbol AA change Variation ID SNP ID
1 PDHB p.Pro344Ser VAR_021058 rs28933391
2 PDHB p.Tyr132Cys VAR_030954 rs28935769

Expression for Pyruvate Dehydrogenase E1-Beta Deficiency

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

Pathways for Pyruvate Dehydrogenase E1-Beta Deficiency

Pathways related to Pyruvate Dehydrogenase E1-Beta Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Pyruvate metabolism hsa00620

GO Terms for Pyruvate Dehydrogenase E1-Beta Deficiency

Sources for Pyruvate Dehydrogenase E1-Beta Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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