lactic aciduria due to D-lactic acid

disease

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Also known as D-lactic aciduria with susceptibility to gout

Summary

lactic aciduria due to D-lactic acid (MONDO:0009505) is a disease with 1 cohort gene.

At a glance

Cohort genes: 1
ClinVar variants: 12

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	lactic aciduria due to D-lactic acid
Mondo ID	MONDO:0009505
MeSH	C565446
OMIM	245450
UMLS	C5193006
MedGen	1679270
GARD	0024675
Is cancer (heuristic)	no

Also known as: D-lactic aciduria with susceptibility to gout · lactic aciduria due to D-lactic acid

Data availability: 12 ClinVar variants.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn disorder of amino acid and other organic acid metabolism › pyruvate metabolism disorder › disorder of glycolysis › lactic aciduria due to D-lactic acid

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

12 retrieved; paginated sample, class counts are floors:

5 pathogenic, 4 uncertain significance, 3 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
3381191	NM_194436.3(LDHD):c.206T>C (p.Val69Ala)	LDHD	Pathogenic	no assertion criteria provided
3381192	NM_194436.3(LDHD):c.683C>T (p.Thr228Met)	LDHD	Pathogenic	no assertion criteria provided
3381193	NM_194436.3(LDHD):c.469+1dup	LDHD	Pathogenic	no assertion criteria provided
3381194	NM_194436.3(LDHD):c.1294dup (p.Ala432fs)	LDHD	Pathogenic	no assertion criteria provided
872931	NM_194436.3(LDHD):c.1039C>T (p.Arg347Trp)	LDHD	Pathogenic	no assertion criteria provided
3376153	NM_194436.3(LDHD):c.561_562del (p.Leu188fs)	LDHD	Likely pathogenic	criteria provided, single submitter
586968	NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys)	LDHD	Likely pathogenic	criteria provided, single submitter
586969	NM_194436.3(LDHD):c.1319C>T (p.Thr440Met)	LDHD	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3603277	NM_194436.3(LDHD):c.7C>T (p.Arg3Ter)	LDHD	Uncertain significance	criteria provided, single submitter
3891568	NM_194436.3(LDHD):c.1012G>A (p.Glu338Lys)	LDHD	Uncertain significance	criteria provided, single submitter
3891569	NM_194436.3(LDHD):c.1032G>C (p.Trp344Cys)	LDHD	Uncertain significance	criteria provided, single submitter
3891570	NM_194436.3(LDHD):c.1394T>C (p.Met465Thr)	LDHD	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 0 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
LDHD	HGNC:19708	ENSG00000166816	Q86WU2	D-lactate dehydrogenase, mitochondrial	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
LDHD	D-lactate dehydrogenase, mitochondrial	The mitochondrial D-lactate dehydrogenase is a stereoselective dehydrogenase that targets a wide variety of D-2-hydroxyacids, particularly those with small to moderately sized hydrophobic groups attached to the C2 atom.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Enzyme (other)	1	12.0×	0.083

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
LDHD	Enzyme (other)	yes	1.1.2.4	FAD-bd_oxidored_4_C, Oxid_FAD_bind_N, FAD-linked_Oxase-like_C

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
apex of heart	1
mucosa of transverse colon	1
right lobe of liver	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
LDHD	164	broad	marker	apex of heart, right lobe of liver, mucosa of transverse colon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
LDHD	1,870

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
LDHD	Q86WU2	89.11

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 4. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Protein localization	1	190.3×	0.012	LDHD
Mitochondrial protein import	1	167.9×	0.012	LDHD
Mitochondrial protein degradation	1	114.2×	0.012	LDHD
Metabolism of proteins	1	12.4×	0.081	LDHD

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
lactate catabolic process	1	16852.0×	6e-05	LDHD

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
LDHD	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
LDHD	1.1.2.4	D-lactate dehydrogenase (cytochrome)

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	1	LDHD
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
LDHD	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: LDHD