IEMbase 0363: IMPDH1-related retinopathy
Scope
| Field | Value |
|---|---|
| IEMbase ID | 363 |
| Nosology | 16.2.15.01 |
| Gene | IMPDH1 |
| External IDs | OMIM:146690; ORPHA:65 |
| Generated mapping | CANDIDATE/MEDIUM to GUCY2D-Related_Retinopathy.yaml |
| Candidate DisMech targets | No exact local target identified |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents IMPDH1-related inosine-5'-monophosphate dehydrogenase deficiency, with abbreviations PR10 and LCA11 and alternate names retinitis pigmentosa type 10 and Leber congenital amaurosis type 11. It is listed as an autosomal dominant disorder.
Characteristic rows include constricted visual fields, a Leber amaurosis-like presentation, pigmentary retinopathy, retinal bone-corpuscle pigmentation, retinal dysfunction, retinal dystrophy, retinitis pigmentosa, and vision loss/optic atrophy. Additional clinical rows include night blindness and nystagmus. IEMbase lists no biochemical or treatment rows.
DisMech phenotype coverage
The generated GUCY2D retinopathy candidate should be rejected. GUCY2D-related retinopathy is a phototransduction/cGMP retinal guanylate cyclase disorder, not an IMPDH1 inosine monophosphate dehydrogenase disease. The shared inherited retinal dystrophy phenotype is not enough for a gene-level or disease-level mapping.
No exact IMPDH1 retinopathy DisMech disease file was identified. Local inherited retinal degeneration or GUCY2D/RHO context may be phenotype-family context only.
Concordance and completeness
Judgement: true local gap; reject the generated GUCY2D candidate.
IEMbase supplies a coherent IMPDH1 retinal disease signal: IMPDH1 identity, autosomal dominant inheritance, retinitis pigmentosa type 10, Leber congenital amaurosis type 11, constricted visual fields, night blindness, nystagmus, pigmentary/bone-spicule retinopathy, retinal dysfunction/dystrophy, and vision loss.
Curation actions
- Do not map this record to
GUCY2D-Related_Retinopathy.yaml. - Create or prioritize a future IMPDH1 retinopathy target if this disease enters active DisMech curation.
- If a future entry reuses shared retinal-degeneration module context, keep the disease-specific proximal mechanism separate from GUCY2D phototransduction biology.