IEMbase 0077: MOCS1-related molybdenum cofactor deficiency A
Scope
| Field | Value |
|---|---|
| IEMbase ID | 77 |
| Nosology | 21.10.01.01 |
| Gene | MOCS1 |
| External IDs | OMIM:603707 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | Best fuzzy candidate Fanconi_Anemia.yaml#FA-A |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as autosomal recessive MOCS1-related molybdenum cofactor deficiency A, with alternate labels MoCo deficiency complementation group A and MOCD-A. Treatability is marked yes.
The characteristic biochemical signal includes urinary cyclic pyranopterin monophosphate, plasma and urinary S-sulfocysteine, sulfite in plasma or urine, taurine in plasma or urine, plasma cystine, plasma homocysteine, xanthine in plasma or urine, and plasma uric acid. Additional rows include alpha-AASA, pipecolic acid, pyridoxal 5-phosphate, and urinary urothione.
Characteristic clinical rows include cortical blindness, dysmorphic features, dystonic cerebral palsy, feeding difficulty, global developmental delay, extremity hypertonia, axial hypotonia, lens dislocation, microcephaly, myoclonus, orobulbar dysfunction, tonic-clonic seizures, and exaggerated startle response. Additional rows include apnea, disturbed consciousness, enophthalmos, facial dysmorphism, frontal bossing, long face, long palpebral fissures, long philtrum, nephrolithiasis, prominent cheeks, small nose, thick lips, and widely spaced eyes.
The treatment row is fosdenopterin.
DisMech phenotype coverage
No valid local DisMech target was found for MOCS1 or molybdenum cofactor deficiency type A.
The best fuzzy candidate, Fanconi_Anemia.yaml#FA-A, is a false positive from
the "A" complementation-group label. Fanconi anemia group A is a DNA-repair and
bone-marrow-failure disorder. MOCS1-related MoCo deficiency A is a molybdenum
cofactor biosynthesis disorder with sulfite/xanthine/uric-acid abnormalities
and a severe neonatal neurodevelopmental phenotype.
Concordance and completeness
Judgement: true local gap.
This record needs a molybdenum cofactor deficiency entry or grouping with MOCS1/MOCD-A subtype coverage. It should not map to Fanconi anemia despite the shared "complementation group A" wording.
Curation actions
- Keep this IEMbase record unmapped for now.
- Add a future molybdenum cofactor deficiency entry, likely with MOCD-A/MOCS1 as a subtype or gene-specific branch.
- Prioritize CPMP, S-sulfocysteine, sulfite, xanthine, uric-acid abnormalities, severe neonatal neurologic disease, lens dislocation, and fosdenopterin treatment.