IEMbase 0254: COQ2-related Coenzyme Q2 polyprenyltranferase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 254 |
| Nosology | 8.1.03.01 |
| Gene | COQ2 |
| External IDs | OMIM:609825; OMIM:607426; ORPHA:98933 |
| Generated mapping | MAPPED; Primary_Coenzyme_Q10_Deficiency.yaml#COQ2 |
| Candidate DisMech targets | Primary_Coenzyme_Q10_Deficiency.yaml#COQ2 |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as COQ2-related coenzyme Q2 polyprenyltranferase deficiency, with alternate labels primary coenzyme Q10 deficiency type 1, mitochondrial 4-hydroxybenzoate-polyprenyltransferase deficiency, and COQ2. The record is autosomal recessive and treatability is marked unknown, with no treatment rows in the cached JSON.
Biochemical rows include abnormal CoQ10 in fibroblasts and muscle and plasma lactate. Clinical rows include deafness, Leigh syndrome, muscle weakness, psychomotor regression, retinopathy, and stroke-like episodes. Characteristic rows include epilepsy, nephrotic syndrome, and severe multisystem disease.
DisMech phenotype coverage
Primary_Coenzyme_Q10_Deficiency.yaml#COQ2 is the correct local target. The
local subtype covers COQ2-related disease across infantile multisystem
encephalomyopathy with nephrotic syndrome through isolated nephropathy. The
umbrella entry captures reduced CoQ10, impaired respiratory-chain energy
metabolism, lactic acidosis, seizures, encephalopathy/Leigh-like disease,
muscle involvement, renal disease, cardiac and sensorineural manifestations,
and CoQ10 supplementation.
Concordance and completeness
Judgement: correct subtype-level mapping with high concordance.
IEMbase and DisMech agree on COQ2 primary CoQ10 deficiency, muscle and fibroblast CoQ10 deficiency, lactate elevation, Leigh/encephalopathic disease, epilepsy, muscle weakness, psychomotor regression, nephrotic syndrome, deafness, and multisystem severity. IEMbase adds retinopathy and stroke-like episodes as specific future review prompts.
Curation actions
- Keep this record mapped to
Primary_Coenzyme_Q10_Deficiency.yaml#COQ2. - No mapping correction is needed.
- Use IEMbase's retinopathy, stroke-like episode, and sensory phenotype rows during any future COQ2 subtype expansion.