IEMbase 0253: PDSS2-related Prenyl diphosphate synthase subunit 2 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 253 |
| Nosology | 8.1.02.01 |
| Gene | PDSS2 |
| External IDs | OMIM:614652; ORPHA:255249 |
| Generated mapping | MAPPED; Primary_Coenzyme_Q10_Deficiency.yaml#PDSS2 |
| Candidate DisMech targets | Primary_Coenzyme_Q10_Deficiency.yaml#PDSS2 |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as PDSS2-related prenyl diphosphate synthase subunit 2 deficiency, with alternate labels primary coenzyme Q10 deficiency type 3 and PDSS2. 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 cardiomyopathy, nephrotic syndrome, and stroke-like episodes. Characteristic rows include epilepsy, Leigh syndrome, and muscle weakness.
DisMech phenotype coverage
Primary_Coenzyme_Q10_Deficiency.yaml#PDSS2 is the correct local target. The
local subtype explicitly describes PDSS2-related CoQ10 deficiency as Leigh
syndrome with nephropathy, with severe Leigh syndrome, nephrotic syndrome, and
CoQ10 deficiency in muscle and fibroblasts. The umbrella entry also covers
seizures, cardiomyopathy, lactic acidosis, muscle/mitochondrial respiratory
chain involvement, and CoQ10-directed treatment.
Concordance and completeness
Judgement: correct subtype-level mapping with high concordance.
IEMbase and DisMech agree on PDSS2 primary CoQ10 deficiency, muscle and fibroblast CoQ10 deficiency, Leigh syndrome, nephrotic syndrome, epilepsy, muscle weakness, cardiomyopathy, and lactate elevation. IEMbase adds stroke-like episodes as a useful phenotype prompt.
Curation actions
- Keep this record mapped to
Primary_Coenzyme_Q10_Deficiency.yaml#PDSS2. - No mapping correction is needed.
- Consider IEMbase's stroke-like episode row during any future PDSS2 subtype expansion.