DLDD
MCID: DHY010
MIFTS: 35

Dihydrolipoamide Dehydrogenase Deficiency (DLDD)

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

Aliases & Classifications for Dihydrolipoamide Dehydrogenase Deficiency

MalaCards integrated aliases for Dihydrolipoamide Dehydrogenase Deficiency:

Name: Dihydrolipoamide Dehydrogenase Deficiency 58 25 54 26 60 76 38 13 41
Dld Deficiency 58 25 54 26 60 76
E3 Deficiency 58 25 54 26 76
Maple Syrup Urine Disease, Type Iii 58 54 26
Lipoamide Dehydrogenase Deficiency 25 26 30
Lactic Acidosis Due to Lipoamide Dehydrogenase Deficiency 26 76
E3-Deficient Maple Syrup Urine Disease 54 60
Pyruvate Dehydrogenase E3 Deficiency 54 60
Maple Syrup Urine Disease, Type 3 30 6
Dldd 58 76
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 74
Lipoamide Dehydrogenase Deficiency, Lactic Acidosis Due to 58
Nadh Cytochrome B5 Reductase Deficiency 74
Dihydrolipoyl Dehydrogenase Deficiency 26
Lactic Acidosis Due to Lad Deficiency 26
Maple Syrup Urine Disease Type Iii 76
Msud Type Iii 76

Characteristics:

Orphanet epidemiological data:

60
pyruvate dehydrogenase e3 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
onset usually in the neonatal period although later onset has been reported
some patients may have normal psychomotor development
high mortality in infancy and early childhood (in some patients)


HPO:

33
dihydrolipoamide dehydrogenase deficiency:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dihydrolipoamide Dehydrogenase Deficiency

NIH Rare Diseases : 54 Dihydrolipoamide dehydrogenase (DLD) deficiency is a very rare condition that can vary in age of onset, symptoms and severity. The condition may be characterized by early-onset lactic acidosis and delayed development (most commonly); later-onset neurological dysfunction; or adult-onset isolated liver disease. Signs and symptoms may include lactic acidosis shortly after birth; hypotonia and lethargy in infancy; feeding difficulties; seizures; and various other health issues. Liver problems can range from hepatomegaly to life-threatening liver failure. Symptoms often occur in episodes that may be triggered by illness or other stresses on the body. Many affected infants do not survive the first few years of life; those who survive through early childhood often have growth delay and intellectual disability. Some with onset later in childhood may have neurological dysfunction with normal cognitive development. DLD deficiency is caused by mutations in the DLD gene and is inherited in an autosomal recessive manner.

MalaCards based summary : Dihydrolipoamide Dehydrogenase Deficiency, also known as dld deficiency, is related to maple syrup urine disease and pyruvate dehydrogenase e3-binding protein deficiency, and has symptoms including seizures, ataxia and headache. An important gene associated with Dihydrolipoamide Dehydrogenase Deficiency is DLD (Dihydrolipoamide Dehydrogenase), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Citrate cycle (TCA cycle). Affiliated tissues include liver, and related phenotypes are vomiting and neurodevelopmental delay

Genetics Home Reference : 26 Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after birth, and they can vary widely among affected individuals.

OMIM : 58 DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). This is the result of E3 being a common component of all 3 mitochondrial multienzyme complexes. Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism. E3 deficiency is often associated with increased urinary excretion of alpha-keto acids, such as pyruvate (summary by Hong et al., 1996). E3 deficiency can also be associated with increased concentrations of branched-chain amino acids, as observed in maple syrup urine disease (MSUD; 248600), and is sometimes referred to as 'MSUD type III,' although patients with E3 deficiency have additional biochemical defects (Chuang and Shih, 2001; Robinson, 2001). (246900)

UniProtKB/Swiss-Prot : 76 Dihydrolipoamide dehydrogenase deficiency: An autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC). Clinically, affected individuals have lactic acidosis and neurologic deterioration due to sensitivity of the central nervous system to defects in oxidative metabolism.

Wikipedia : 77 Dihydrolipoamide dehydrogenase (DLD), also known as dihydrolipoyl dehydrogenase, mitochondrial, is an... more...

GeneReviews: NBK220444

Related Diseases for Dihydrolipoamide Dehydrogenase Deficiency

Diseases related to Dihydrolipoamide Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 maple syrup urine disease 11.4
2 pyruvate dehydrogenase e3-binding protein deficiency 11.2
3 lactic acidosis 10.3
4 myoglobinuria, recurrent 10.1
5 hepatitis 10.1
6 liver disease 10.1
7 myoglobinuria 10.1
8 infantile liver failure syndrome 1 10.1
9 acute liver failure 10.1
10 muscle disorders 10.1
11 myopathy 10.1
12 mitochondrial myopathy 10.1
13 hypercholesterolemia, familial 9.8
14 leigh syndrome 9.8
15 homozygous familial hypercholesterolemia 9.8

Graphical network of the top 20 diseases related to Dihydrolipoamide Dehydrogenase Deficiency:



Diseases related to Dihydrolipoamide Dehydrogenase Deficiency

Symptoms & Phenotypes for Dihydrolipoamide Dehydrogenase Deficiency

Human phenotypes related to Dihydrolipoamide Dehydrogenase Deficiency:

60 33 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002013
2 neurodevelopmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0012758
3 increased serum lactate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002151
4 lactic acidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003128
5 generalized hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001290
6 global developmental delay 33 hallmark (90%) HP:0001263
7 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
8 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
9 hepatomegaly 60 33 occasional (7.5%) Frequent (79-30%) HP:0002240
10 hypoglycemia 60 33 frequent (33%) Frequent (79-30%) HP:0001943
11 hypercoagulability 60 33 frequent (33%) Frequent (79-30%) HP:0100724
12 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
13 elevated hepatic transaminase 60 33 occasional (7.5%) Frequent (79-30%) HP:0002910
14 lethargy 60 33 frequent (33%) Frequent (79-30%) HP:0001254
15 elevated plasma branched chain amino acids 60 33 frequent (33%) Frequent (79-30%) HP:0008344
16 hepatic encephalopathy 60 33 frequent (33%) Frequent (79-30%) HP:0002480
17 increased urine alpha-ketoglutarate concentration 60 33 frequent (33%) Frequent (79-30%) HP:0012402
18 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
19 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%) HP:0001508
20 behavioral abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0000708
21 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
22 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
23 reduced visual acuity 60 33 occasional (7.5%) Occasional (29-5%) HP:0007663
24 hepatic failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001399
25 hyperammonemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001987
26 abnormal cardiac ventricular function 60 33 occasional (7.5%) Occasional (29-5%) HP:0030872
27 decreased plasma carnitine 60 33 occasional (7.5%) Occasional (29-5%) HP:0003234
28 hyperisoleucinemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0010913
29 decreased liver function 33 occasional (7.5%) HP:0001410
30 muscle spasm 33 occasional (7.5%) HP:0003394
31 hypertrophic cardiomyopathy 33 HP:0001639
32 dystonia 33 HP:0001332
33 muscle cramps 60 Occasional (29-5%)
34 metabolic acidosis 33 HP:0001942
35 encephalopathy 33 HP:0001298

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
dystonia
lethargy
hypotonia
more
Cardiovascular Heart:
hypertrophic cardiomyopathy

Metabolic Features:
lactic acidosis
metabolic acidosis
episodic decompensation

Abdomen Liver:
hepatomegaly (in some patients)
liver dysfunction (in some patients)

Head And Neck Head:
microcephaly

Laboratory Abnormalities:
hypoglycemia
elevated pyruvate (in most patients)
elevated branched-chain amino acids (in most patients)
elevated alpha-ketoglutarate (in most patients)
decreased activities of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acid dehydrogenase complex
more
Abdomen Gastrointestinal:
poor feeding
vomiting, recurrent, severe

Clinical features from OMIM:

246900

UMLS symptoms related to Dihydrolipoamide Dehydrogenase Deficiency:


seizures, ataxia, headache, lethargy, cyanosis, dyspnea on exertion

Drugs & Therapeutics for Dihydrolipoamide Dehydrogenase Deficiency

Search Clinical Trials , NIH Clinical Center for Dihydrolipoamide Dehydrogenase Deficiency

Genetic Tests for Dihydrolipoamide Dehydrogenase Deficiency

Genetic tests related to Dihydrolipoamide Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Maple Syrup Urine Disease, Type 3 30 DLD
2 Lipoamide Dehydrogenase Deficiency 30

Anatomical Context for Dihydrolipoamide Dehydrogenase Deficiency

MalaCards organs/tissues related to Dihydrolipoamide Dehydrogenase Deficiency:

42
Liver

Publications for Dihydrolipoamide Dehydrogenase Deficiency

Articles related to Dihydrolipoamide Dehydrogenase Deficiency:

(show all 21)
# Title Authors Year
1
An Updated View on the Molecular Pathomechanisms of Human Dihydrolipoamide Dehydrogenase Deficiency in Light of Novel Crystallographic Evidence. ( 30847858 )
2019
2
Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency. ( 23995961 )
2014
3
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2. ( 25251739 )
2014
4
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte. ( 27896107 )
2014
5
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome. ( 23478190 )
2013
6
Stimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase. ( 21558426 )
2011
7
Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain. ( 20652410 )
2010
8
Cryptic proteolytic activity of dihydrolipoamide dehydrogenase. ( 17404228 )
2007
9
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. ( 16770810 )
2006
10
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency. ( 15712224 )
2005
11
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation. ( 12925875 )
2003
12
Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy. ( 14765544 )
2003
13
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. ( 11687750 )
2001
14
Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain. ( 10448086 )
1999
15
Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. ( 9934985 )
1999
16
Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence. ( 9298831 )
1997
17
Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. ( 8968745 )
1996
18
Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. ( 8652022 )
1996
19
Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. ( 8506365 )
1993
20
Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis. ( 1640293 )
1992
21
Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction. ( 3769994 )
1986

Variations for Dihydrolipoamide Dehydrogenase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Dihydrolipoamide Dehydrogenase Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 DLD p.Lys72Glu VAR_006907 rs121964987
2 DLD p.Pro488Leu VAR_006908 rs121964988
3 DLD p.Gly229Cys VAR_015820 rs121964990
4 DLD p.Arg495Gly VAR_015821 rs121964989
5 DLD p.Ile47Thr VAR_076985 rs397514651
6 DLD p.Met361Val VAR_076987 rs121964993
7 DLD p.Glu375Lys VAR_076988 rs121964992
8 DLD p.Ile393Thr VAR_076989 rs121964991
9 DLD p.Asp479Val VAR_076990 rs397514649
10 DLD p.Arg482Gly VAR_076991 rs397514650

ClinVar genetic disease variations for Dihydrolipoamide Dehydrogenase Deficiency:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 DLD NM_000108.4(DLD): c.214A> G (p.Lys72Glu) single nucleotide variant Pathogenic rs121964987 GRCh37 Chromosome 7, 107542785: 107542785
2 DLD NM_000108.4(DLD): c.214A> G (p.Lys72Glu) single nucleotide variant Pathogenic rs121964987 GRCh38 Chromosome 7, 107902340: 107902340
3 DLD NM_000108.4(DLD): c.1463C> T (p.Pro488Leu) single nucleotide variant Pathogenic rs121964988 GRCh37 Chromosome 7, 107559543: 107559543
4 DLD NM_000108.4(DLD): c.1463C> T (p.Pro488Leu) single nucleotide variant Pathogenic rs121964988 GRCh38 Chromosome 7, 107919098: 107919098
5 DLD NM_000108.4(DLD): c.685G> T (p.Gly229Cys) single nucleotide variant Pathogenic rs121964990 GRCh37 Chromosome 7, 107555951: 107555951
6 DLD NM_000108.4(DLD): c.685G> T (p.Gly229Cys) single nucleotide variant Pathogenic rs121964990 GRCh38 Chromosome 7, 107915506: 107915506
7 DLD NM_000108.4(DLD): c.1483A> G (p.Arg495Gly) single nucleotide variant Pathogenic rs121964989 GRCh37 Chromosome 7, 107559657: 107559657
8 DLD NM_000108.4(DLD): c.1483A> G (p.Arg495Gly) single nucleotide variant Pathogenic rs121964989 GRCh38 Chromosome 7, 107919212: 107919212
9 DLD NM_000108.4(DLD): c.1178T> C (p.Ile393Thr) single nucleotide variant Pathogenic rs121964991 GRCh37 Chromosome 7, 107557849: 107557849
10 DLD NM_000108.4(DLD): c.1178T> C (p.Ile393Thr) single nucleotide variant Pathogenic rs121964991 GRCh38 Chromosome 7, 107917404: 107917404
11 DLD NM_000108.5(DLD): c.875+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 7, 107556142: 107556142
12 DLD NM_000108.5(DLD): c.875+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 7, 107915697: 107915697
13 DLD NM_000108.3(DLD): c.1123G> A (p.Glu375Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121964992 GRCh37 Chromosome 7, 107557794: 107557794
14 DLD NM_000108.3(DLD): c.1123G> A (p.Glu375Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121964992 GRCh38 Chromosome 7, 107917349: 107917349
15 DLD NM_000108.4(DLD): c.1081A> G (p.Met361Val) single nucleotide variant Pathogenic rs121964993 GRCh37 Chromosome 7, 107557752: 107557752
16 DLD NM_000108.4(DLD): c.1081A> G (p.Met361Val) single nucleotide variant Pathogenic rs121964993 GRCh38 Chromosome 7, 107917307: 107917307
17 DLD NM_000108.4(DLD): c.1436A> T (p.Asp479Val) single nucleotide variant Pathogenic rs397514649 GRCh37 Chromosome 7, 107559516: 107559516
18 DLD NM_000108.4(DLD): c.1436A> T (p.Asp479Val) single nucleotide variant Pathogenic rs397514649 GRCh38 Chromosome 7, 107919071: 107919071
19 DLD NM_000108.4(DLD): c.1444A> G (p.Arg482Gly) single nucleotide variant Pathogenic rs397514650 GRCh37 Chromosome 7, 107559524: 107559524
20 DLD NM_000108.4(DLD): c.1444A> G (p.Arg482Gly) single nucleotide variant Pathogenic rs397514650 GRCh38 Chromosome 7, 107919079: 107919079
21 DLD NM_000108.4(DLD): c.140T> C (p.Ile47Thr) single nucleotide variant Pathogenic rs397514651 GRCh37 Chromosome 7, 107542204: 107542204
22 DLD NM_000108.4(DLD): c.140T> C (p.Ile47Thr) single nucleotide variant Pathogenic rs397514651 GRCh38 Chromosome 7, 107901759: 107901759
23 DLD NM_000108.4(DLD): c.249T> C (p.Val83=) single nucleotide variant Conflicting interpretations of pathogenicity rs2228664 GRCh37 Chromosome 7, 107542820: 107542820
24 DLD NM_000108.4(DLD): c.249T> C (p.Val83=) single nucleotide variant Conflicting interpretations of pathogenicity rs2228664 GRCh38 Chromosome 7, 107902375: 107902375
25 DLD NM_000108.4(DLD): c.439-7T> C single nucleotide variant Benign/Likely benign rs10263341 GRCh37 Chromosome 7, 107545799: 107545799
26 DLD NM_000108.4(DLD): c.439-7T> C single nucleotide variant Benign/Likely benign rs10263341 GRCh38 Chromosome 7, 107905354: 107905354
27 DLD NM_000108.4(DLD): c.543A> T (p.Ile181=) single nucleotide variant Conflicting interpretations of pathogenicity rs61749952 GRCh37 Chromosome 7, 107545910: 107545910
28 DLD NM_000108.4(DLD): c.543A> T (p.Ile181=) single nucleotide variant Conflicting interpretations of pathogenicity rs61749952 GRCh38 Chromosome 7, 107905465: 107905465
29 DLD NM_000108.4(DLD): c.777A> G (p.Lys259=) single nucleotide variant Benign rs1065762 GRCh37 Chromosome 7, 107556043: 107556043
30 DLD NM_000108.4(DLD): c.777A> G (p.Lys259=) single nucleotide variant Benign rs1065762 GRCh38 Chromosome 7, 107915598: 107915598
31 DLD NM_000108.4(DLD): c.1422A> C (p.Gly474=) single nucleotide variant Benign rs34453495 GRCh37 Chromosome 7, 107559502: 107559502
32 DLD NM_000108.4(DLD): c.1422A> C (p.Gly474=) single nucleotide variant Benign rs34453495 GRCh38 Chromosome 7, 107919057: 107919057
33 DLD NM_000108.4(DLD): c.*18A> T single nucleotide variant Benign rs8721 GRCh37 Chromosome 7, 107559722: 107559722
34 DLD NM_000108.4(DLD): c.*18A> T single nucleotide variant Benign rs8721 GRCh38 Chromosome 7, 107919277: 107919277
35 DLD NM_000108.4(DLD): c.788G> A (p.Arg263His) single nucleotide variant Uncertain significance rs145670503 GRCh37 Chromosome 7, 107556054: 107556054
36 DLD NM_000108.4(DLD): c.788G> A (p.Arg263His) single nucleotide variant Uncertain significance rs145670503 GRCh38 Chromosome 7, 107915609: 107915609
37 DLD NM_000108.4(DLD): c.39+1G> A single nucleotide variant Likely pathogenic rs111257462 GRCh38 Chromosome 7, 107891290: 107891290
38 DLD NM_000108.4(DLD): c.39+1G> A single nucleotide variant Likely pathogenic rs111257462 GRCh37 Chromosome 7, 107531735: 107531735
39 DLD NM_000108.4(DLD): c.82delT (p.Ser28Leufs) deletion Likely pathogenic rs764704217 GRCh38 Chromosome 7, 107893242: 107893242
40 DLD NM_000108.4(DLD): c.82delT (p.Ser28Leufs) deletion Likely pathogenic rs764704217 GRCh37 Chromosome 7, 107533687: 107533687
41 DLD NM_000108.4(DLD): c.104dupA (p.Tyr35Terfs) duplication Likely pathogenic rs753234219 GRCh37 Chromosome 7, 107533709: 107533709
42 DLD NM_000108.4(DLD): c.104dupA (p.Tyr35Terfs) duplication Likely pathogenic rs753234219 GRCh38 Chromosome 7, 107893264: 107893264
43 DLD NM_000108.4(DLD): c.112C> T (p.Gln38Ter) single nucleotide variant Likely pathogenic rs1057516698 GRCh37 Chromosome 7, 107533717: 107533717
44 DLD NM_000108.4(DLD): c.112C> T (p.Gln38Ter) single nucleotide variant Likely pathogenic rs1057516698 GRCh38 Chromosome 7, 107893272: 107893272
45 DLD NM_000108.4(DLD): c.223dupA (p.Thr75Asnfs) duplication Likely pathogenic rs1057517214 GRCh37 Chromosome 7, 107542794: 107542794
46 DLD NM_000108.4(DLD): c.223dupA (p.Thr75Asnfs) duplication Likely pathogenic rs1057517214 GRCh38 Chromosome 7, 107902349: 107902349
47 DLD NM_000108.4(DLD): c.633dupA (p.Val212Serfs) duplication Likely pathogenic rs1040811473 GRCh37 Chromosome 7, 107546762: 107546762
48 DLD NM_000108.4(DLD): c.633dupA (p.Val212Serfs) duplication Likely pathogenic rs1040811473 GRCh38 Chromosome 7, 107906317: 107906317
49 DLD NM_000108.4(DLD): c.1520_1523delTCAA (p.Ile507Thrfs) deletion Likely pathogenic rs777884525 GRCh37 Chromosome 7, 107559694: 107559697
50 DLD NM_000108.4(DLD): c.1520_1523delTCAA (p.Ile507Thrfs) deletion Likely pathogenic rs777884525 GRCh38 Chromosome 7, 107919249: 107919252

Expression for Dihydrolipoamide Dehydrogenase Deficiency

Search GEO for disease gene expression data for Dihydrolipoamide Dehydrogenase Deficiency.

Pathways for Dihydrolipoamide Dehydrogenase Deficiency

Pathways related to Dihydrolipoamide Dehydrogenase Deficiency according to KEGG:

38
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Citrate cycle (TCA cycle) hsa00020
3 Pyruvate metabolism hsa00620

GO Terms for Dihydrolipoamide Dehydrogenase Deficiency

Sources for Dihydrolipoamide Dehydrogenase 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
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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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