PDHBD
MCID: PYR012
MIFTS: 26

Pyruvate Dehydrogenase E1-Beta Deficiency (PDHBD)

Categories: Fetal diseases, 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 58 60 76 38 30 13 6 41 74
Pdhbd 58 60 76
Pyruvate Dehydrogenase Complex E1 Component Subunit Beta Deficiency 60
Pyruvate Dehydrogenase Complex Deficiency Disease 74
Pyruvate Dehydrogenase Deficiency 76
Pdh Deficiency 76

Characteristics:

Orphanet epidemiological data:

60
pyruvate dehydrogenase e1-beta deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adolescent,late childhood;

HPO:

33
pyruvate dehydrogenase e1-beta deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 614111
KEGG 38 H01998
MeSH 45 D015325
ICD10 via Orphanet 35 E74.4
UMLS via Orphanet 75 C3279841
Orphanet 60 ORPHA255138
SNOMED-CT via HPO 70 190882007 258211005 91273001

Summaries for Pyruvate Dehydrogenase E1-Beta Deficiency

UniProtKB/Swiss-Prot : 76 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 e2 deficiency. An important gene associated with Pyruvate Dehydrogenase E1-Beta Deficiency is PDHB (Pyruvate Dehydrogenase E1 Beta Subunit), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Pyruvate metabolism. Affiliated tissues include brain, and related phenotypes are lactic acidosis and generalized hypotonia

Description from OMIM: 614111

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 all 17)
# Related Disease Score Top Affiliating Genes
1 pyruvate dehydrogenase e1-alpha deficiency 12.0
2 pyruvate dehydrogenase e2 deficiency 11.4
3 leigh syndrome, french canadian type 11.3
4 pyruvate dehydrogenase phosphatase deficiency 11.3
5 lactic acidosis 10.1
6 neuropathy 10.1
7 optic nerve disease 10.1
8 dystonia 10.1
9 down syndrome 9.9
10 leigh syndrome 9.9
11 periventricular leukomalacia 9.9
12 myopathy 9.9
13 peripheral nervous system disease 9.9
14 chronic fatigue syndrome 9.9
15 bowenoid papulosis 9.9
16 leukomalacia 9.9
17 spinocerebellar degeneration 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:

33
# Description HPO Frequency HPO Source Accession
1 lactic acidosis 33 HP:0003128
2 generalized hypotonia 33 HP:0001290

Clinical features from OMIM:

614111

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Beta Deficiency

Search Clinical Trials , 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 30 PDHB

Anatomical Context for Pyruvate Dehydrogenase E1-Beta Deficiency

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

42
Brain

Publications for Pyruvate Dehydrogenase E1-Beta Deficiency

Articles related to Pyruvate Dehydrogenase E1-Beta Deficiency:

(show all 46)
# Title Authors Year
1
Tenuous link between chronic fatigue syndrome and pyruvate dehydrogenase deficiency. ( 29231630 )
2017
2
Severe Brain Malformations in an Infant With Pyruvate Dehydrogenase Deficiency and Down Syndrome. ( 28784285 )
2017
3
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review. ( 26008863 )
2015
4
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients. ( 22766002 )
2012
5
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency. ( 21895644 )
2012
6
Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene. ( 21470495 )
2011
7
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency. ( 19517265 )
2009
8
Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation. ( 18398624 )
2009
9
Optic neuropathy in a patient with pyruvate dehydrogenase deficiency. ( 19588132 )
2009
10
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia. ( 18504677 )
2008
11
A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate. ( 18206410 )
2008
12
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency. ( 18709504 )
2008
13
Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency. ( 18164639 )
2008
14
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings. ( 18197404 )
2008
15
Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy. ( 18559466 )
2008
16
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency. ( 16843025 )
2006
17
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. ( 16049940 )
2005
18
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. ( 15138885 )
2004
19
A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet. ( 15070761 )
2004
20
Pyruvate dehydrogenase deficiency presenting as dystonia in childhood. ( 15473177 )
2004
21
Biochemical and structural brain alterations in female mice with cerebral pyruvate dehydrogenase deficiency. ( 15569252 )
2004
22
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene. ( 12557299 )
2003
23
Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene. ( 12208141 )
2002
24
Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region. ( 12379317 )
2002
25
Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency. ( 10872106 )
2000
26
Dichloroacetate stabilizes the mutant E1alpha subunit in pyruvate dehydrogenase deficiency. ( 10449128 )
1999
27
Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation. ( 9818854 )
1998
28
Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency. ( 9266390 )
1997
29
[Pyruvate dehydrogenase deficiency and cerebral malformations]. ( 8983728 )
1996
30
Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency. ( 8962591 )
1996
31
Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells. ( 8598635 )
1995
32
Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit. ( 8199595 )
1994
33
Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit. ( 7545958 )
1994
34
Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency. ( 7880337 )
1994
35
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients. ( 8032855 )
1994
36
Pyruvate dehydrogenase deficiency. ( 7853374 )
1994
37
Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. ( 8352855 )
1993
38
E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy. ( 8460066 )
1993
39
Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein. ( 1338114 )
1992
40
Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis. ( 1405466 )
1992
41
Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene. ( 1907799 )
1991
42
Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene. ( 2378353 )
1990
43
In utero central nervous system damage in pyruvate dehydrogenase deficiency. ( 3137916 )
1988
44
Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency. ( 3126355 )
1987
45
Glutamate and pyruvate dehydrogenase deficiency in spinocerebellar degeneration. ( 6437168 )
1984
46
Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency. ( 821033 )
1976

Variations for Pyruvate Dehydrogenase E1-Beta Deficiency

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

76
# Symbol AA change Variation ID SNP ID
1 PDHB p.Pro344Ser VAR_021058 rs28933391
2 PDHB p.Tyr132Cys VAR_030954 rs28935769

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PDHB NM_000925.3(PDHB): c.395A> G (p.Tyr132Cys) single nucleotide variant Pathogenic rs28935769 GRCh37 Chromosome 3, 58416578: 58416578
2 PDHB NM_000925.3(PDHB): c.395A> G (p.Tyr132Cys) single nucleotide variant Pathogenic rs28935769 GRCh38 Chromosome 3, 58430851: 58430851
3 PDHB NM_000925.3(PDHB): c.1030C> T (p.Pro344Ser) single nucleotide variant Pathogenic rs28933391 GRCh37 Chromosome 3, 58413811: 58413811
4 PDHB NM_000925.3(PDHB): c.1030C> T (p.Pro344Ser) single nucleotide variant Pathogenic rs28933391 GRCh38 Chromosome 3, 58428084: 58428084
5 PDHB NM_000925.3(PDHB): c.435G> A (p.Arg145=) single nucleotide variant Benign rs4264746 GRCh38 Chromosome 3, 58430811: 58430811
6 PDHB NM_000925.3(PDHB): c.435G> A (p.Arg145=) single nucleotide variant Benign rs4264746 GRCh37 Chromosome 3, 58416538: 58416538
7 PDHB NM_000925.3(PDHB): c.701-3C> T single nucleotide variant Uncertain significance rs377063331 GRCh38 Chromosome 3, 58429802: 58429802
8 PDHB NM_000925.3(PDHB): c.701-3C> T single nucleotide variant Uncertain significance rs377063331 GRCh37 Chromosome 3, 58415529: 58415529
9 PDHB NM_000925.3(PDHB): c.448G> T (p.Ala150Ser) single nucleotide variant Uncertain significance rs139242990 GRCh38 Chromosome 3, 58430798: 58430798
10 PDHB NM_000925.3(PDHB): c.448G> T (p.Ala150Ser) single nucleotide variant Uncertain significance rs139242990 GRCh37 Chromosome 3, 58416525: 58416525

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:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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