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DLD

Synonyms
DLDD, DLDH, E3, GCSL, LAD, OGDC-E3, PHE3
External resources
Summary
This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
11
Likely pathogenic
4
VUS
1,340
Likely benign
2,503
Benign
191

Patient phenotypes

Proportions of phenotypes among 14 patients carrying pathogenic or likely pathogenic variants on DLD gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
35.7%
Abnormality of the cardiovascular system
28.6%
Abnormality of the eye
28.6%
Abnormality of the ear
21.4%
Abnormality of the genitourinary system
21.4%
Abnormality of the endocrine system
14.3%
Abnormality of the musculoskeletal system
14.3%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of head or neck
7.1%
Abnormality of limbs
7.1%
Abnormality of prenatal development or birth
7.1%
Abnormality of the digestive system
7.1%
Abnormality of the integument
7.1%
Growth abnormality
7.1%
Neoplasm
7.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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