MCID: DHY010
MIFTS: 32

Dihydrolipoamide Dehydrogenase Deficiency malady

Genetic diseases, Rare diseases, Nephrological diseases categories

Aliases & Classifications for Dihydrolipoamide Dehydrogenase Deficiency

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Dihydrolipoamide Dehydrogenase Deficiency, Aliases & Descriptions:

Name: Dihydrolipoamide Dehydrogenase Deficiency 45 10 19 41 21
Lipoamide Dehydrogenase Deficiency 19 41 21
Maple Syrup Urine Disease, Type Iii 21 22
Dld Deficiency 19 21
E3 Deficiency 19 21
Lactic Acidosis, Congenital Infantile, Due to Lad Deficiency 60
Lactic Acidosis Due to Lipoamide Dehydrogenase Deficiency 21
 
Nadh Cytochrome B5 Reductase Deficiency 60
Dihydrolipoyl Dehydrogenase Deficiency 21
Lactic Acidosis Due to Lad Deficiency 21
Encephalocraniocutaneous Lipomatosis 41
Maple Syrup Urine Disease Type 3 20
Haberland Syndrome 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases


External Ids:

OMIM45 246900

Summaries for Dihydrolipoamide Dehydrogenase Deficiency

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OMIM:45 DLD deficiency is an autosomal recessive metabolic disorder characterized biochemically by a combined deficiency of... (246900) more...

MalaCards based summary: Dihydrolipoamide Dehydrogenase Deficiency, also known as lipoamide dehydrogenase deficiency, is related to encephalocraniocutaneous lipomatosis and lipomatosis, and has symptoms including global developmental delay, decreased liver function and hepatomegaly. An important gene associated with Dihydrolipoamide Dehydrogenase Deficiency is DLD (dihydrolipoamide dehydrogenase). Affiliated tissues include liver.

Genetics Home Reference:21 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.

GeneReviews summary for dld-def

Related Diseases for Dihydrolipoamide Dehydrogenase Deficiency

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



Diseases related to dihydrolipoamide dehydrogenase deficiency

Symptoms for Dihydrolipoamide Dehydrogenase Deficiency

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Symptoms by clinical synopsis from OMIM:

246900

Clinical features from OMIM:

246900

HPO human phenotypes related to Dihydrolipoamide Dehydrogenase Deficiency:

(show all 17)
id Description Frequency HPO Source Accession
1 global developmental delay hallmark (90%) HP:0001263
2 decreased liver function rare (5%) HP:0001410
3 hepatomegaly rare (5%) HP:0002240
4 elevated hepatic transaminases rare (5%) HP:0002910
5 autosomal recessive inheritance HP:0000007
6 microcephaly HP:0000252
7 seizures HP:0001250
8 ataxia HP:0001251
9 lethargy HP:0001254
10 encephalopathy HP:0001298
11 dystonia HP:0001332
12 hypertrophic cardiomyopathy HP:0001639
13 metabolic acidosis HP:0001942
14 hypoglycemia HP:0001943
15 lactic acidosis HP:0003128
16 variable expressivity HP:0003828
17 feeding difficulties HP:0011968

Drugs & Therapeutics for Dihydrolipoamide Dehydrogenase Deficiency

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Drug clinical trials:

Search ClinicalTrials for Dihydrolipoamide Dehydrogenase Deficiency

Search NIH Clinical Center for Dihydrolipoamide Dehydrogenase Deficiency

Genetic Tests for Dihydrolipoamide Dehydrogenase Deficiency

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Genetic tests related to Dihydrolipoamide Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Maple Syrup Urine Disease Type 320 DLD
2 Maple Syrup Urine Disease, Type 322

Anatomical Context for Dihydrolipoamide Dehydrogenase Deficiency

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MalaCards organs/tissues related to Dihydrolipoamide Dehydrogenase Deficiency:

31
Liver

Animal Models for Dihydrolipoamide Dehydrogenase Deficiency or affiliated genes

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Publications for Dihydrolipoamide Dehydrogenase Deficiency

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Articles related to Dihydrolipoamide Dehydrogenase Deficiency:

idTitleAuthorsYear
1
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2. (25251739)
2014
2
Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency. (23995961)
2013
3
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome. (23478190)
2013
4
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. (16770810)
2006
5
Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency. (11687750)
2001
6
Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. (8968745)
1996
7
Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. (8506365)
1993
8
Dihydrolipoamide Dehydrogenase Deficiency (25032271)
1993

Variations for Dihydrolipoamide Dehydrogenase Deficiency

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

62
id Symbol AA change Variation ID SNP ID
1DLDp.Lys72GluVAR_006907
2DLDp.Pro488LeuVAR_006908
3DLDp.Gly229CysVAR_015820
4DLDp.Arg495GlyVAR_015821

Clinvar genetic disease variations for Dihydrolipoamide Dehydrogenase Deficiency:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1DLDNM_000108.4(DLD): c.214A> G (p.Lys72Glu)single nucleotide variantPathogenicrs121964987GRCh37Chr 7, 107542785: 107542785
2DLDNM_000108.4(DLD): c.1463C> T (p.Pro488Leu)single nucleotide variantPathogenicrs121964988GRCh37Chr 7, 107559543: 107559543
3DLDNM_000108.4(DLD): c.685G> T (p.Gly229Cys)single nucleotide variantPathogenicrs121964990GRCh37Chr 7, 107555951: 107555951
4DLDDLD, 1-BP INS, 105AinsertionPathogenic
5DLDNM_000108.4(DLD): c.1483A> G (p.Arg495Gly)single nucleotide variantPathogenicrs121964989GRCh37Chr 7, 107559657: 107559657
6DLDNM_000108.4(DLD): c.1178T> C (p.Ile393Thr)single nucleotide variantPathogenicrs121964991GRCh37Chr 7, 107557849: 107557849
7DLDDLD, IVS9, G-A, +1single nucleotide variantPathogenic
8DLDNM_000108.4(DLD): c.1123G> A (p.Glu375Lys)single nucleotide variantPathogenicrs121964992GRCh37Chr 7, 107557794: 107557794
9DLDNM_000108.4(DLD): c.1081A> G (p.Met361Val)single nucleotide variantPathogenicrs121964993GRCh37Chr 7, 107557752: 107557752
10DLDNM_000108.4(DLD): c.1436A> T (p.Asp479Val)single nucleotide variantPathogenicrs397514649GRCh37Chr 7, 107559516: 107559516
11DLDNM_000108.4(DLD): c.1444A> G (p.Arg482Gly)single nucleotide variantPathogenicrs397514650GRCh37Chr 7, 107559524: 107559524
12DLDNM_000108.4(DLD): c.140T> C (p.Ile47Thr)single nucleotide variantPathogenicrs397514651GRCh37Chr 7, 107542204: 107542204

Expression for genes affiliated with Dihydrolipoamide Dehydrogenase Deficiency

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

Pathways for genes affiliated with Dihydrolipoamide Dehydrogenase Deficiency

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Compounds for genes affiliated with Dihydrolipoamide Dehydrogenase Deficiency

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GO Terms for genes affiliated with Dihydrolipoamide Dehydrogenase Deficiency

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Products for genes affiliated with Dihydrolipoamide Dehydrogenase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Dihydrolipoamide Dehydrogenase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet