IEMbase 0079: GPHN-related molybdenum cofactor deficiency C
Scope
| Field | Value |
|---|---|
| IEMbase ID | 79 |
| Nosology | 21.10.03.01 |
| Gene | GPHN |
| External IDs | OMIM:603930 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as autosomal recessive GPHN-related molybdenum cofactor deficiency C, with alternate labels MoCo deficiency complementation group C, gephyrin deficiency, and MOCD-C. Treatability is marked unknown.
The characteristic biochemical signal includes plasma cystine, plasma homocysteine, plasma S-sulfocysteine, sulfite in plasma or urine, taurine in plasma or urine, plasma uric acid, and xanthine in plasma or urine. Additional rows include alpha-AASA, pipecolic acid, pyridoxal 5-phosphate, urinary S-sulfocysteine, urinary CPMP, and urinary urothione.
Characteristic clinical rows include cortical blindness, feeding difficulty, global developmental delay, extremity hypertonia, lens dislocation, microcephaly, nephrolithiasis, orobulbar dysfunction, tonic-clonic seizures, and exaggerated startle response.
No treatment rows are present in the cached IEMbase record.
DisMech phenotype coverage
No valid local DisMech target was found for GPHN-related molybdenum cofactor deficiency C.
The local KB does mention GPHN in Hereditary_Hyperekplexia.yaml, where it is a
gene associated with inhibitory-synapse scaffolding and hyperekplexia. That is a
gene-symbol collision for this IEMbase record, not a valid disease match.
MOCD-C is a molybdenum cofactor disorder with sulfite/xanthine/uric-acid
abnormalities, lens dislocation, nephrolithiasis, and severe neurologic disease.
Concordance and completeness
Judgement: true local gap.
This record belongs with future molybdenum cofactor deficiency coverage rather than with the existing hyperekplexia entry. It is the likely sibling of the MOCS1/MOCD-A and MOCS2/MOCD-B records in the same IEMbase block.
Curation actions
- Keep this IEMbase record unmapped for now.
- Add GPHN/MOCD-C to a future molybdenum cofactor deficiency entry or grouping.
- Guard against gene-only mapping to hereditary hyperekplexia; the mechanism and biochemical signature are distinct.