IEMbase 0504: HOGA1-related primary hyperoxaluria type 3
Scope
| Field | Value |
|---|---|
| IEMbase ID | 504 |
| Nosology | 1.7.02.02 |
| Gene | HOGA1 |
| External IDs | OMIM:613616; ORPHA:93600 |
| Generated mapping | UNMAPPED; best scored candidate erythromelalgia.yaml (0.588) |
| Candidate DisMech targets | Primary_Hyperoxaluria_Type_3.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive HOGA1-related mitochondrial 4-hydroxy-2-oxoglutarate aldolase deficiency as primary hyperoxaluria type 3. No treatments are listed. Biochemical rows include variable plasma oxalic acid, markedly increased urinary oxalic acid, normal-to-increased urinary calcium, normal-to-increased plasma creatinine and urea, and increased urinary 4-hydroxy-2-oxoglutaric acid. Clinical rows include nephrolithiasis, renal colic, nephrocalcinosis, chronic renal failure, hematuria, urinary infections, bone pain, growth retardation, failure to thrive, calcinosis cutis, cardiac oxalate deposition, cardiomyopathy, trabecular-structure derangement, pathological fractures, radiolucent metaphyseal bands, optic atrophy, pigmentary retinopathy, pancytopenia, and livedo reticularis.
DisMech phenotype coverage
The generated unmapped status is a false negative. Local
Primary_Hyperoxaluria_Type_3.yaml is the exact disease target. It models
autosomal recessive HOGA1 loss of mitochondrial
4-hydroxy-2-oxoglutarate aldolase activity, hydroxyproline-pathway metabolite
accumulation, cytosolic glyoxylate-to-oxalate overproduction, urinary calcium
oxalate supersaturation, recurrent calcium oxalate nephrolithiasis, occasional
nephrocalcinosis, hyperoxaluria, urinary HOG-related metabolite elevation,
HOGA1 genetics, and supportive high-fluid/citrate-style management.
Concordance and completeness
Judgement: false negative; resolve to Primary_Hyperoxaluria_Type_3.yaml.
The two resources agree on HOGA1/PH3 identity, recessive inheritance, oxalate overproduction, urinary oxalate, 4-hydroxy-2-oxoglutarate/HOG metabolite elevation, nephrolithiasis, renal colic/stone presentation, and nephrocalcinosis. IEMbase is broader on possible systemic oxalosis or renal complication prompts, including skin, cardiac, skeletal, hematologic, ocular, and vascular-pattern findings. DisMech intentionally emphasizes PH3's generally milder kidney-stone phenotype, so those severe systemic rows need careful source review before import.
Curation actions
- Map this record to
Primary_Hyperoxaluria_Type_3.yaml. - Treat the erythromelalgia candidate as unrelated noise.
- Consider IEMbase's creatinine/urea, urinary calcium, hematuria, urinary infections, and systemic oxalosis prompts only after verifying that they are appropriate for PH3 rather than primary hyperoxaluria in general or more severe PH1/PH2 presentations.