ORPHA:308386
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Also known as: MOCOD type A · Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,099
Trials
0
Interventional, condition-specific
Researchers
1,089
Distinct authors in sample
Gene link
MOCS1
Definitive
Readiness
4/6
Stages with a signal
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009643
- MeSH:C565372
- OMIM:252150
- UMLS:C1854988
Additional Mondo synonyms (4)
MOCODA · combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A · molybdenum cofactor deficiency A · molybdenum cofactor deficiency, complementation group type a
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
4/6 stages with a signal
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — MOCS1
- LiteraturePresent
1,099 matched papers (672 in last 10 years) Source
- Phenotype characterisedPresent
42 HPO annotations (e.g. Long philtrum; Seizure; Decreased urinary urate) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (MOCS1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
42
Associated phenotypes · MONDO:0009643
- Long philtrum
- Seizure
- Decreased urinary urate
- Increased urinary hypoxanthine level
- Molybdenum cofactor deficiency
Showing 5 of 42 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Mocs1tm1Jre/Mocs1tm1Jre [background:] involves: 129S1/Sv * 129X1/SvJ * C57BL/6J·MGI:2659147·Mus musculus
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
2
Drugs / clinical candidates · MONDO_0009643
- FOSDENOPTERIN·phase 2 3
- FOSDENOPTERIN HYDROBROMIDE·approval
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,099
1,099 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,099 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
672 in the last 10 years · low confidence
Phrase hits: 599 · MeSH hits: 0
Who's working on it?
1,089
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Schwarz G12 papers · 2025
Colbourne Pharmaceuticals GmbH, Viktoriaweg 7, 53859 Niederkassel, Germany ; University of Cologne, Germany.
Papers in Europe PMC - 02Schwahn BC8 papers · 2025
Royal Hospital for Sick Children, NHS Greater Glasgow and Clyde, Glasgow, UK; Willink Biochemical Genetics Unit, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK. Electronic address: bernd.schwahn@cmft.nhs.uk.
Papers in Europe PMC - 03de Vries LS4 papers · 2026
Department of Neonatology, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.
Papers in Europe PMC - 04Ichida K4 papers · 2022
Department of Pathophysiology, Tokyo University of Pharmacy and Life Sciences, Japan.
Papers in Europe PMC - 05Santamaria-Araujo JA4 papers · 2024
Orphatec/Colbourne Pharmaceuticals, Niederkassel, Germany.
Papers in Europe PMC - 06
- 07van Karnebeek CDM4 papers · 2025
Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam University Medical Center, 1105 AZ Amsterdam, The Netherlands.
Papers in Europe PMC - 08Abdel-Hamid MS3 papers · 2025
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Papers in Europe PMC - 09Coughlin CR 2nd3 papers · 2025
Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Papers in Europe PMC - 10Hoffmann GF3 papers · 2026
Pediatric Neurology and Center for Rare Disorders, Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category sulfite oxidase deficiency due to molybdenum cofactor deficiency also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: sulfite oxidase deficiency due to molybdenum cofactor deficiency
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A" OR "MOCOD type A" OR "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" OR "Combined deficiency of the sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" OR "MOCODA" OR "molybdenum cofactor deficiency A" OR "molybdenum cofactor deficiency, complementation group type a") OR (MESH:"Molybdenum Cofactor Deficiency, Complementation Group A") OR ("MOCS1" OR "MOCS1 syndrome" OR "MOCS1-related")MeSH descriptor terms unioned into the query: Molybdenum Cofactor Deficiency, Complementation Group A
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A" OR "MOCOD type A" OR "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" OR "Combined deficiency of the sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" OR "MOCODA" OR "molybdenum cofactor deficiency A" OR "molybdenum cofactor deficiency, complementation group type a" OR "Molybdenum Cofactor Deficiency, Complementation Group A"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"sulfite oxidase deficiency due to molybdenum cofactor deficiency"
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (1099) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T12:51:36.124Z