PDHAD
MCID: PYR022
MIFTS: 56

Pyruvate Dehydrogenase E1-Alpha Deficiency (PDHAD)

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

Aliases & Classifications for Pyruvate Dehydrogenase E1-Alpha Deficiency

MalaCards integrated aliases for Pyruvate Dehydrogenase E1-Alpha Deficiency:

Name: Pyruvate Dehydrogenase E1-Alpha Deficiency 57 59 75 37 29 13 6 40
Pyruvate Dehydrogenase Complex Deficiency 57 53 25 59 37 29 6
Pyruvate Decarboxylase Deficiency 57 12 53 59 75 15
Pyruvate Dehydrogenase Deficiency 12 76 53 25 59 75
Pdh Deficiency 57 53 25 75
Pyruvate Dehydrogenase Complex Deficiency Disease 12 44 73
Pdhad 57 59 75
Ataxia with Lactic Acidosis I 57 75
Pdhc 53 59
Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency 53
Ataxia Intermittent with Pyruvate Dehydrogenase or Decarboxylase Deficiency 75
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency 59
Ataxia, Intermittent, with Pyruvate Dehydrogenase Deficiency 57
Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency 25
Ataxia, Intermittent, with Abnormal Pyruvate Metabolism 57
Ataxia Intermittent with Abnormal Pyruvate Metabolism 75
Pyruvate Dehydrogenase E1 Alpha Deficiency 73
Deficiency of Pyruvic Dehydrogenase 12
Ataxia with Lactic Acidosis 1 53
Ataxia with Lactic Acidosis 25
Pdhc Deficiency 25
Pdc Deficiency 53
Pdh 59

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Miscellaneous:
highly variable phenotype
onset in infancy or early childhood
two main phenotypes, metabolic and neurologic
35% of patients have facial dysmorphism
a subset of patients improve with thiamine
severe infantile cases usually die by 6 months
females demonstrate lyonization with corresponding phenotypic variation

Inheritance:
x-linked dominant


HPO:

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


Classifications:



Summaries for Pyruvate Dehydrogenase E1-Alpha Deficiency

NIH Rare Diseases : 53 Pyruvate dehydrogenase complex (PDC) deficiency is a type of metabolic disease. This means that the body is not able to efficiently break down nutrients in food to be used for energy. Symptoms of PDC deficiency include signs of metabolic dysfunction such as extreme tiredness (lethargy), poor feeding, and rapid breathing (tachypnea). Other symptoms may include signs of neurological dysfunction such as developmental delay, periods of uncontrolled movements (ataxia), low muscle tone (hypotonia), abnormal eye movements, and seizures. Symptoms usually begin in infancy, but signs can first appear at birth or later in childhood. Symptoms may be especially apparent during times of illness, stress, or after meals with high amounts of carbohydrates. The most common form of PDC deficiency is caused by genetic changes (mutations or pathogenic variants) in the PDHA1 gene. These pathogenic variants are inherited in an X-linked manner. Pathogenic variants in other genes including PDHB, DLAT, PDHX, DLD, and PDP1 can also cause PDC deficiency. These pathogenic variants are inherited in an autosomal recessive manner. PDC deficiency is diagnosed based on laboratory tests including blood tests, analysis of the urine, and brain MRI. The diagnosis can be confirmed by analyzing the pyruvate dehydrogenase enzyme. Treatment for PDC deficiency includes dietary supplementation with carnitine, thiamine, and lipoic acid. 

MalaCards based summary : Pyruvate Dehydrogenase E1-Alpha Deficiency, also known as pyruvate dehydrogenase complex deficiency, is related to lactic acidosis and leigh syndrome, and has symptoms including seizures, lethargy and nasal flaring. An important gene associated with Pyruvate Dehydrogenase E1-Alpha Deficiency is PDHA1 (Pyruvate Dehydrogenase E1 Alpha 1 Subunit), and among its related pathways/superpathways are Pyruvate metabolism and Glycolysis / Gluconeogenesis. Affiliated tissues include brain, testes and eye, and related phenotypes are hypertelorism and pectus excavatum

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 : 57 Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). (312170)

UniProtKB/Swiss-Prot : 75 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 : 76 Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD) is... more...

Related Diseases for Pyruvate Dehydrogenase E1-Alpha Deficiency

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 via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
long philtrum

Head And Neck Nose:
wide nasal bridge
flared nostrils
upturned nose

Growth Weight:
low birth weight

Metabolic Features:
lactic acidosis, severe
lactic acidosis, chronic
a subset of patients may have subtle increases in blood lactate
a subset of patients may have normal levels of blood lactate

Neurologic Central Nervous System:
seizures
dystonia
choreoathetosis
lethargy
cerebral atrophy
more
Head And Neck Head:
microcephaly
narrow head

Head And Neck Eyes:
abnormal eye movements
episodic ptosis

Laboratory Abnormalities:
increased blood pyruvic acid
increased blood lactic acid
increased csf pyruvic acid
increased csf lactic acid
increased blood alanine
more

Clinical features from OMIM:

312170

Human phenotypes related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
3 frontal bossing 59 32 occasional (7.5%) Occasional (29-5%) HP:0002007
4 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
5 abnormality of eye movement 59 32 frequent (33%) Frequent (79-30%) HP:0000496
6 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
7 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
8 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
9 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
10 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
11 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
12 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
13 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
14 wide nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0000431
15 abnormal facial shape 59 32 very rare (1%) Very frequent (99-80%) HP:0001999
16 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
17 feeding difficulties in infancy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008872
18 dyspnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002094
19 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
20 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
21 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
22 dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001332
23 multiple lipomas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001012
24 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
25 narrow face 59 32 occasional (7.5%) Occasional (29-5%) HP:0000275
26 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
27 choreoathetosis 59 32 frequent (33%) Frequent (79-30%) HP:0001266
28 cerebral palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100021
29 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
30 aplasia/hypoplasia of the corpus callosum 59 32 frequent (33%) Frequent (79-30%) HP:0007370
31 trigonocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000243
32 tachypnea 59 32 frequent (33%) Frequent (79-30%) HP:0002789
33 osteolytic defects of the middle phalanx of the 4th toe 59 32 frequent (33%) Frequent (79-30%) HP:0100453
34 agenesis of corpus callosum 32 HP:0001274
35 ptosis 32 HP:0000508
36 intellectual disability 32 HP:0001249
37 abnormal pyramidal signs 59 Frequent (79-30%)
38 anteverted nares 32 HP:0000463
39 growth delay 59 Very frequent (99-80%)
40 increased serum lactate 32 HP:0002151
41 generalized hypotonia 32 HP:0001290
42 cerebral atrophy 32 HP:0002059
43 small for gestational age 32 HP:0001518
44 hyperalaninemia 32 HP:0003348
45 episodic ataxia 32 HP:0002131
46 increased csf lactate 32 HP:0002490
47 decreased activity of the pyruvate dehydrogenase complex 32 HP:0002928
48 flared nostrils 32 HP:0000454
49 apneic episodes precipitated by illness, fatigue, stress 32 HP:0002872
50 basal ganglia cysts 32 HP:0006799

UMLS symptoms related to Pyruvate Dehydrogenase E1-Alpha Deficiency:


seizures, lethargy, nasal flaring

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

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.72 HIBCH
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.72 PDHB
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.72 HIBCH
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.72 PDHB HIBCH PC
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.72 PC
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.72 PC
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.72 MAP3K15
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.72 HIBCH
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 9.72 MAP3K15 PDHB
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.72 HIBCH
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.72 MAP3K15
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.72 MAP3K15
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.72 PDHB
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.72 PC
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.72 MAP3K15
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.72 HIBCH
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.72 HIBCH
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.72 MAP3K15

Drugs & Therapeutics for Pyruvate Dehydrogenase E1-Alpha Deficiency

Search Clinical Trials , 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:

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

Anatomical Context for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

41
Brain, Testes, Eye, Cortex, Skin, Liver, Testis

Publications for Pyruvate Dehydrogenase E1-Alpha Deficiency

Articles related to Pyruvate Dehydrogenase E1-Alpha Deficiency:

(show all 38)
# Title Authors Year
1
Pyruvate dehydrogenase complex deficiency is linked to regulatory loop disorder in the αV138M variant of human pyruvate dehydrogenase. ( 29970614 )
2018
2
Efficacy of ketogenic diet for pyruvate dehydrogenase complex deficiency. ( 30407699 )
2018
3
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes. ( 28101805 )
2017
4
Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease. ( 29204204 )
2017
5
Prenatal presentation of pyruvate dehydrogenase complex deficiency. ( 27026023 )
2016
6
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing. ( 27144126 )
2016
7
Beneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency. ( 27331005 )
2016
8
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells. ( 27343776 )
2016
9
Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1). ( 23572181 )
2014
10
Energy substrate metabolism in pyruvate dehydrogenase complex deficiency. ( 24914713 )
2014
11
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency. ( 27896109 )
2014
12
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. ( 22079328 )
2012
13
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients. ( 22896851 )
2012
14
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency. ( 21723463 )
2011
15
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency. ( 20462777 )
2010
16
Liver-specific pyruvate dehydrogenase complex deficiency upregulates lipogenesis in adipose tissue and improves peripheral insulin sensitivity. ( 20835892 )
2010
17
Tissue-specific pyruvate dehydrogenase complex deficiency causes cardiac hypertrophy and sudden death of weaned male mice. ( 18586888 )
2008
18
Effect of pyruvate dehydrogenase complex deficiency on L-lysine production with Corynebacterium glutamicum. ( 17333167 )
2007
19
Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency. ( 16725381 )
2006
20
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene. ( 15558317 )
2005
21
Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency. ( 12163191 )
2002
22
Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency. ( 11241048 )
2001
23
Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency. ( 11102541 )
2000
24
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency. ( 10402601 )
1999
25
Pyruvate dehydrogenase E1 alpha deficiency in a family: different clinical presentation in two siblings. ( 9686362 )
1998
26
Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency. ( 9187674 )
1997
27
Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency. ( 9075024 )
1997
28
Pyruvate dehydrogenase complex deficiency with multiple minor anomalies. ( 9141261 )
1997
29
Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy. ( 8982956 )
1996
30
Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy. ( 8656986 )
1996
31
Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again. ( 7887408 )
1995
32
A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency. ( 8535453 )
1995
33
Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis. ( 8337946 )
1993
34
Pyruvate dehydrogenase E1 alpha deficiency. ( 1528021 )
1992
35
A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency. ( 1508605 )
1992
36
Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency. ( 1909401 )
1991
37
Pyruvate dehydrogenase complex deficiency: biochemical and immunoblot analysis of cultured skin fibroblasts. ( 2513771 )
1989
38
The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency. ( 2517465 )
1989

Variations for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

75 (show all 20)
# 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 rs113169179
9 PDHA1 p.Thr231Ala VAR_004957
10 PDHA1 p.Asp258Ala VAR_004958 rs137853253
11 PDHA1 p.Arg263Gly VAR_004959 rs137853259
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 rs106479414
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 rs137853256

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

6 (show top 50) (show all 449)
# 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.1167_1170delCAGT (p.Ser390Lysfs) deletion Pathogenic rs606231184 GRCh37 Chromosome X, 19377765: 19377768
3 PDHA1 NM_000284.3(PDHA1): c.934_940delAGTAAGA (p.Ser312Valfs) deletion Pathogenic rs606231185 GRCh38 Chromosome X, 19358950: 19358956
4 PDHA1 NM_000284.3(PDHA1): c.934_940delAGTAAGA (p.Ser312Valfs) deletion Pathogenic rs606231185 GRCh37 Chromosome X, 19377068: 19377074
5 PDHA1 NM_001173454.1(PDHA1): c.1247G> A (p.Arg416His) single nucleotide variant Pathogenic rs137853250 GRCh37 Chromosome X, 19377731: 19377731
6 PDHA1 NM_001173454.1(PDHA1): c.1247G> A (p.Arg416His) single nucleotide variant Pathogenic rs137853250 GRCh38 Chromosome X, 19359613: 19359613
7 PDHA1 NM_000284.3(PDHA1): c.937_939delAAG (p.Lys313del) deletion Pathogenic rs137853251 GRCh37 Chromosome X, 19377071: 19377073
8 PDHA1 NM_000284.3(PDHA1): c.937_939delAAG (p.Lys313del) deletion Pathogenic rs137853251 GRCh38 Chromosome X, 19358953: 19358955
9 PDHA1 NM_000284.3(PDHA1): c.1159_1160delAA (p.Lys387Valfs) deletion Pathogenic rs606231186 GRCh38 Chromosome X, 19359639: 19359640
10 PDHA1 NM_000284.3(PDHA1): c.1159_1160delAA (p.Lys387Valfs) deletion Pathogenic rs606231186 GRCh37 Chromosome X, 19377757: 19377758
11 PDHA1 NM_000284.3(PDHA1): c.1073_1092del20 (p.Glu358Glyfs) deletion Pathogenic rs606231187 GRCh38 Chromosome X, 19359553: 19359572
12 PDHA1 NM_000284.3(PDHA1): c.1073_1092del20 (p.Glu358Glyfs) deletion Pathogenic rs606231187 GRCh37 Chromosome X, 19377671: 19377690
13 PDHA1 NM_000284.3(PDHA1) insertion Pathogenic rs606231188 GRCh38 Chromosome X, 19358913: 19358933
14 PDHA1 NM_000284.3(PDHA1) insertion Pathogenic rs606231188 GRCh37 Chromosome X, 19377031: 19377051
15 PDHA1 NM_000284.3(PDHA1): c.787C> G (p.Arg263Gly) single nucleotide variant Pathogenic rs137853259 GRCh37 Chromosome X, 19373831: 19373831
16 PDHA1 NM_000284.3(PDHA1): c.787C> G (p.Arg263Gly) single nucleotide variant Pathogenic rs137853259 GRCh38 Chromosome X, 19355713: 19355713
17 PDHA1 NM_000284.3(PDHA1): c.904C> T (p.Arg302Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853252 GRCh37 Chromosome X, 19377038: 19377038
18 PDHA1 NM_000284.3(PDHA1): c.904C> T (p.Arg302Cys) single nucleotide variant Pathogenic/Likely pathogenic rs137853252 GRCh38 Chromosome X, 19358920: 19358920
19 PDHA1 NM_000284.3(PDHA1): c.1142_1145dupATCA (p.Trp383Serfs) duplication Pathogenic rs606231189 GRCh38 Chromosome X, 19359622: 19359625
20 PDHA1 NM_000284.3(PDHA1): c.1142_1145dupATCA (p.Trp383Serfs) duplication Pathogenic rs606231189 GRCh37 Chromosome X, 19377740: 19377743
21 PDHA1 NM_000284.3(PDHA1): c.773A> C (p.Asp258Ala) single nucleotide variant Pathogenic rs137853253 GRCh37 Chromosome X, 19373817: 19373817
22 PDHA1 NM_000284.3(PDHA1): c.773A> C (p.Asp258Ala) single nucleotide variant Pathogenic rs137853253 GRCh38 Chromosome X, 19355699: 19355699
23 PDHA1 NM_000284.3(PDHA1): c.615C> G (p.Phe205Leu) single nucleotide variant Pathogenic rs137853254 GRCh37 Chromosome X, 19373478: 19373478
24 PDHA1 NM_000284.3(PDHA1): c.615C> G (p.Phe205Leu) single nucleotide variant Pathogenic rs137853254 GRCh38 Chromosome X, 19355360: 19355360
25 PDHA1 NM_000284.3(PDHA1): c.727T> A (p.Tyr243Asn) single nucleotide variant Pathogenic rs137853255 GRCh37 Chromosome X, 19373590: 19373590
26 PDHA1 NM_000284.3(PDHA1): c.727T> A (p.Tyr243Asn) single nucleotide variant Pathogenic rs137853255 GRCh38 Chromosome X, 19355472: 19355472
27 PDHA1 NM_000284.3(PDHA1): c.943G> A (p.Asp315Asn) single nucleotide variant Pathogenic rs137853256 GRCh37 Chromosome X, 19377077: 19377077
28 PDHA1 NM_000284.3(PDHA1): c.943G> A (p.Asp315Asn) single nucleotide variant Pathogenic rs137853256 GRCh38 Chromosome X, 19358959: 19358959
29 PDHA1 NM_000284.3(PDHA1): c.844A> C (p.Met282Leu) single nucleotide variant Benign rs2229137 GRCh37 Chromosome X, 19375782: 19375782
30 PDHA1 NM_000284.3(PDHA1): c.844A> C (p.Met282Leu) single nucleotide variant Benign rs2229137 GRCh38 Chromosome X, 19357664: 19357664
31 PDHA1 NM_000284.3(PDHA1): c.861_862insT (p.Arg288Serfs) insertion Pathogenic rs606231190 GRCh38 Chromosome X, 19357681: 19357682
32 PDHA1 NM_000284.3(PDHA1): c.861_862insT (p.Arg288Serfs) insertion Pathogenic rs606231190 GRCh37 Chromosome X, 19375799: 19375800
33 PDHA1 NM_000284.3(PDHA1): c.29G> C (p.Arg10Pro) single nucleotide variant Pathogenic rs137853257 GRCh37 Chromosome X, 19362184: 19362184
34 PDHA1 NM_000284.3(PDHA1): c.29G> C (p.Arg10Pro) single nucleotide variant Pathogenic rs137853257 GRCh38 Chromosome X, 19344066: 19344066
35 PDHA1 PDHA1, 13-BP INS, EX10 insertion Pathogenic
36 PDHA1 NM_000284.3(PDHA1) duplication Pathogenic rs606231191 GRCh38 Chromosome X, 19359554: 19359589
37 PDHA1 NM_000284.3(PDHA1) duplication Pathogenic rs606231191 GRCh37 Chromosome X, 19377672: 19377707
38 PDHA1 NM_000284.3(PDHA1): c.863G> A (p.Arg288His) single nucleotide variant Pathogenic rs137853258 GRCh37 Chromosome X, 19375801: 19375801
39 PDHA1 NM_000284.3(PDHA1): c.863G> A (p.Arg288His) single nucleotide variant Pathogenic rs137853258 GRCh38 Chromosome X, 19357683: 19357683
40 PDHA1 NM_000284.3(PDHA1): c.*79_*90dupAGTCAATGAAAT duplication Pathogenic rs606231192 GRCh38 Chromosome X, 19359732: 19359743
41 PDHA1 NM_000284.3(PDHA1): c.*79_*90dupAGTCAATGAAAT duplication Pathogenic rs606231192 GRCh37 Chromosome X, 19377850: 19377861
42 PDHA1 NM_000284.3(PDHA1): c.648A> C (p.Leu216Phe) single nucleotide variant Pathogenic rs121917898 GRCh37 Chromosome X, 19373511: 19373511
43 PDHA1 NM_000284.3(PDHA1): c.648A> C (p.Leu216Phe) single nucleotide variant Pathogenic rs121917898 GRCh38 Chromosome X, 19355393: 19355393
44 DLAT NM_001931.4(DLAT): c.128C> T (p.Ala43Val) single nucleotide variant Benign rs2303436 GRCh37 Chromosome 11, 111896324: 111896324
45 DLAT NM_001931.4(DLAT): c.128C> T (p.Ala43Val) single nucleotide variant Benign rs2303436 GRCh38 Chromosome 11, 112025600: 112025600
46 DLAT NM_001931.4(DLAT): c.1351G> A (p.Asp451Asn) single nucleotide variant Benign rs10891314 GRCh37 Chromosome 11, 111916647: 111916647
47 DLAT NM_001931.4(DLAT): c.1351G> A (p.Asp451Asn) single nucleotide variant Benign rs10891314 GRCh38 Chromosome 11, 112045923: 112045923
48 DLAT NM_001931.4(DLAT): c.953T> C (p.Val318Ala) single nucleotide variant Benign rs627441 GRCh37 Chromosome 11, 111908162: 111908162
49 DLAT NM_001931.4(DLAT): c.953T> C (p.Val318Ala) single nucleotide variant Benign rs627441 GRCh38 Chromosome 11, 112037438: 112037438
50 PDHB NM_000925.3(PDHB): c.438G> A (p.Gly146=) single nucleotide variant Benign rs1126551 GRCh37 Chromosome 3, 58416535: 58416535

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 KEGG:

37
# Name Kegg Source Accession
1 Pyruvate metabolism hsa00620
2 Glycolysis / Gluconeogenesis hsa00010

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 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
11.59 PC PDHA1 PDHB
5
Show member pathways
11.58 HIBCH PC PDHA1 PDHB
6 11.51 PDHA1 PDHB
7 11.48 PDHA1 PDHB
8
Show member pathways
11.32 PDHA1 PDHB PDHX
9 11.27 PDHA1 PDHB
10
Show member pathways
11.06 PC PDHA1 PDHB
11
Show member pathways
10.94 PDHA1 PDHB PDHX
12 10.88 HIBCH PC PDHA1 PDHX

GO Terms for Pyruvate Dehydrogenase E1-Alpha Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.55 HIBCH PC PDHA1 PDHB PDHX
2 mitochondrial matrix GO:0005759 9.35 HIBCH PC PDHA1 PDHB PDHX
3 pyruvate dehydrogenase complex GO:0045254 8.8 PDHA1 PDHB PDHX

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

# Name GO ID Score Top Affiliating Genes
1 glucose metabolic process GO:0006006 9.26 PDHA1 PDHB
2 tricarboxylic acid cycle GO:0006099 9.16 PDHA1 PDHB
3 acetyl-CoA biosynthetic process from pyruvate GO:0006086 8.96 PDHA1 PDHB
4 mitochondrial acetyl-CoA biosynthetic process from pyruvate GO:0061732 8.8 PDHA1 PDHB PDHX

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

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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