IEMbase 0053: CNDP1-related carnosine dipeptidase 1 deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 53 |
| Nosology | 2.2.16.01 |
| Gene | CNDP1 |
| External IDs | OMIM:212200 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as autosomal recessive CNDP1-related carnosine dipeptidase 1 deficiency, also named carnosinemia and homocarnosinosis. The biochemical profile is increased urinary anserine, increased carnosine in plasma and urine, and increased CSF homocarnosine.
The clinical block records no clinical significance across all ages, and IEMbase lists no treatments.
DisMech phenotype coverage
There is no local DisMech entry for CNDP1 deficiency, carnosinemia, or homocarnosinosis. The local search did not identify a plausible disease-level target.
Concordance and completeness
Judgement: true unmapped record. The cached record is a benign or clinically minimal biochemical disorder, and no local DisMech entry currently models the CNDP1/carnosine dipeptidase defect.
Curation actions
- Keep the record unmapped.
- If curated later, keep the clinical scope narrow and centered on the carnosine/anserine/homocarnosine biochemical profile unless stronger clinical evidence is introduced.