Hereditary neuropathy or pain disorder
Gene: DLDEnsemblGeneIds (GRCh38): ENSG00000091140
EnsemblGeneIds (GRCh37): ENSG00000091140
OMIM: 238331, Gene2Phenotype
DLD is in 11 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Several cases reported with Dihydrolipoamide dehydrogenase deficiency (OMIM:246900) but only a single report linking this to a reversible sensory neuropathy (PMID:40888368). It is worth noting that neuropathy occurred without lactic acidosis or secondary vitamin deficiencies, coupled with lipid deposition in peripheral nerve biopsies. This requires validation through additional corroborative cases and therefore rating as Red until such cases emerge.Created: 9 Oct 2025, 11:43 a.m. | Last Modified: 9 Oct 2025, 11:43 a.m.
Panel Version: 7.12
Alexander Rossor (UCL Institute of Neurology)
Single case reporting sensory axonal neuropathy therefore should be amber for now
Sources: OtherCreated: 14 Sep 2025, 3 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hepatic dysfunction; sensory axonal neuropathy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Dihydrolipoamide dehydrogenase deficiency, OMIM:246900
- hepatic dysfunction
- sensory axonal neuropathy
- OMIM
- 238331
- Clinvar variants
- Variants in DLD
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Pyruvate dehydrogenase (PDH) deficiency
- Likely inborn error of metabolism
- Hereditary neuropathy or pain disorder
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Hyperammonaemia
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DLD were changed from hepatic dysfunction; sensory axonal neuropathy to Dihydrolipoamide dehydrogenase deficiency, OMIM:246900; hepatic dysfunction; sensory axonal neuropathy
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: dld has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexander Rossor (UCL Institute of Neurology)gene: DLD was added gene: DLD was added to Hereditary neuropathy or pain disorder. Sources: Other Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLD were set to 40888368 Phenotypes for gene: DLD were set to hepatic dysfunction; sensory axonal neuropathy Penetrance for gene: DLD were set to Complete Review for gene: DLD was set to AMBER