Likely inborn error of metabolism - targeted testing not possible
Gene: LDHD
LDHD variants have been associated with D-lactic aciduria with susceptibility to gout (OMIM:245450), but not with a phenotype in Gen2Phen. At least seven LDHD variants have been reported in seven unrelated cases (PMID: 30931947;31638601;34258137;37021930).Created: 2 Jan 2024, 4:15 p.m. | Last Modified: 2 Jan 2024, 4:15 p.m.
Panel Version: 4.88
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 2 Jan 2024, 4:05 p.m. | Last Modified: 2 Jan 2024, 4:05 p.m.
Panel Version: 4.87
PMID: 30931947 (2019) reported two unrelated patients with homozygous missense variants in LDHD (p.Thr463Met and p.Trp374Cys)
PMID: 31638601 (2019) reported a 4-generation consanguineous Bedouin-Israeli family with autosomal recessive hyperuricemia. A homozygous missense variant in LDHD was identified (p.R370W)
Sources: LiteratureCreated: 4 Dec 2023, 4:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-lactic aciduria with susceptibility to gout
Publications
Phenotypes for gene: LDHD were changed from D-lactic aciduria with susceptibility to gout, OMIM:245450 to D-lactic aciduria with susceptibility to gout, OMIM:245450; lactic aciduria due to D-lactic acid, MONDO:0009505
Gene: ldhd has been classified as Amber List (Moderate Evidence).
Publications for gene: LDHD were set to 30931947; 31638601
Phenotypes for gene: LDHD were changed from D-lactic aciduria with susceptibility to gout to D-lactic aciduria with susceptibility to gout, OMIM:245450
Gene: ldhd has been classified as Amber List (Moderate Evidence).
Gene: ldhd has been classified as Amber List (Moderate Evidence).
gene: LDHD was added gene: LDHD was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature Mode of inheritance for gene: LDHD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDHD were set to 30931947; 31638601 Phenotypes for gene: LDHD were set to D-lactic aciduria with susceptibility to gout Review for gene: LDHD was set to AMBER